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    ARHGEF7 Rho guanine nucleotide exchange factor 7 [ Homo sapiens (human) ]

    Gene ID: 8874, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARHGEF7provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 7provided by HGNC
    Primary source
    HGNC:HGNC:15607
    See related
    Ensembl:ENSG00000102606 MIM:605477; AllianceGenome:HGNC:15607
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P50; P85; PAK3; PIXB; COOL1; P50BP; COOL-1; P85SPR; BETA-PIX; P85COOL1; Nbla10314
    Summary
    This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in brain (RPKM 14.7), fat (RPKM 11.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGEF7 in Genome Data Viewer
    Location:
    13q34
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (111114619..111305734)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (110344517..110535326)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (111766966..111958081)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903213 Neighboring gene long intergenic non-protein coding RNA 431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8020 Neighboring gene Sharpr-MPRA regulatory region 12287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111704289-111704788 Neighboring gene NANOG hESC enhancer GRCh37_chr13:111716396-111716926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5526 Neighboring gene long intergenic non-protein coding RNA 368 Neighboring gene ARHGEF7 antisense RNA 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:111772850-111772988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5527 Neighboring gene uncharacterized LOC101060553 Neighboring gene ARHGEF7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8026 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:111850373-111850578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111858211-111858712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111858713-111859212 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:111864035-111864562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:111866216-111866751 Neighboring gene spalt like transcription factor 4 pseudogene 4 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:111867287-111867821 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:111932258-111933457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111948473-111948972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:111967966-111968521 Neighboring gene uncharacterized LOC105370365 Neighboring gene testis expressed 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112041571-112042071 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112055149-112055694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112055695-112056240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112056241-112056784 Neighboring gene uncharacterized LOC107984618

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Protein kinase A-dependent phosphorylation modulates beta1Pix guanine nucleotide exchange factor activity through 14-3-3beta binding. Chahdi A, et al. Mol Cell Biol, 2008 Mar. PMID 18160719, Free PMC Article
    2. β-PIX is critical for transplanted mesenchymal stromal cell migration. Koh SH, et al. Stem Cells Dev, 2012 Jul 20. PMID 22087847
    3. Structure and mutagenesis of the Dbl homology domain. Aghazadeh B, et al. Nat Struct Biol, 1998 Dec. PMID 9846881
    4. AMPK phosphorylation of the β(1)Pix exchange factor regulates the assembly and function of an ENaC inhibitory complex in kidney epithelial cells. Ho PY, et al. Am J Physiol Renal Physiol, 2019 Dec 1. PMID 31566435, Free PMC Article
    5. ARHGEF7 promotes metastasis of colorectal adenocarcinoma by regulating the motility of cancer cells. Lei X, et al. Int J Oncol, 2018 Nov. PMID 30132516, Free PMC Article

    See all (174) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SRC kinase activator CDCP1 promotes hepatocyte growth factor-induced cell migration/invasion of a subset of breast cancer cells.
      Title: SRC kinase activator CDCP1 promotes hepatocyte growth factor-induced cell migration/invasion of a subset of breast cancer cells.
    2. Beta-Pix-dynamin 2 complex promotes colorectal cancer progression by facilitating membrane dynamics.
      Title: Beta-Pix-dynamin 2 complex promotes colorectal cancer progression by facilitating membrane dynamics.
    3. ARHGEF7 (beta-PIX) Is Required for the Maintenance of Podocyte Architecture and Glomerular Function.
      Title: ARHGEF7 (β-PIX) Is Required for the Maintenance of Podocyte Architecture and Glomerular Function.
    4. Indispensable role of STIL in the regulation of cancer cell motility through the lamellipodial accumulation of ARHGEF7-PAK1 complex.
      Title: Indispensable role of STIL in the regulation of cancer cell motility through the lamellipodial accumulation of ARHGEF7-PAK1 complex.
    5. our results demonstrate the importance of AMPK-mediated phosphorylation of beta1Pix at Ser(71), which promotes 14-3-3 interactions with beta1Pix and Nedd4-2 to form a tripartite ENaC inhibitory complex, in the mechanism of ENaC regulation by AMPK
      Title: AMPK phosphorylation of the β(1)Pix exchange factor regulates the assembly and function of an ENaC inhibitory complex in kidney epithelial cells.
    6. Expression of ARHGEF7 is significantly increased and associated with metastasis in colorectal adenocarcinoma.
      Title: ARHGEF7 promotes metastasis of colorectal adenocarcinoma by regulating the motility of cancer cells.
    7. Induced association of beta-PIX with GIT1 is essential for the stimulation of intestinal epithelial restitution by activating Rac1, and this signaling pathway is tightly regulated by cellular polyamines.
      Title: β-PIX plays an important role in regulation of intestinal epithelial restitution by interacting with GIT1 and Rac1 after wounding.
    8. Traction forces generated by beta-PIX knockdown cells are increased relative to those in control cells, a result consistent with an unexpected enhancement in the migration of single beta-PIX knockdown cells and monolayers of such cells. Authors propose that targeting beta-PIX might be a means of promoting epithelialization of wounds in vivo.
      Title: Loss of β-PIX inhibits focal adhesion disassembly and promotes keratinocyte motility via myosin light chain activation.
    9. S340E mutation enhances Nox1 activation (Kaito et al., 2014), the present study suggests that betaPix can also play an inhibitory role in O2(-) production, depending on the sites of phosphorylation.
      Title: Phosphorylation of Ser-525 in βPix impairs Nox1-activating ability in Caco-2 cells.
    10. Data suggest that Scribble PDZ-domain-1 and PDZ-domain-3 are major domains that interact with beta-PIX and exhibit distinct binding hierarchy in interactions between individual Scribble PDZ domains and beta-PIX. (Scribble = scribbled planar cell polarity protein; beta-PIX = Rho guanine nucleotide exchange factor 7)
      Title: Structural basis for the differential interaction of Scribble PDZ domains with the guanine nucleotide exchange factor β-PIX.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association meta-analysis for total serum bilirubin levels.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    EBI GWAS Catalog
    Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef In the presence of Nef, lipid raft Cdc42 is activated and forms a ternary complex between the c-Cbl-interacting protein p85Cool-1/betaPix and c-Cbl, displacing UbcH7 from rafts PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0142, KIAA0412, DKFZp761K1021, DKFZp686C12170

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in focal adhesion assembly HDA PubMed 
    involved_in lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of microtubule nucleation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of GTPase activity HMP PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of fibroblast migration HDA PubMed 
    involved_in positive regulation of lamellipodium morphogenesis HMP PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading HMP PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in focal adhesion HDA PubMed 
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 7
    Names
    PAK-interacting exchange factor beta
    Rho guanine nucleotide exchange factor (GEF) 7
    SH3 domain-containing proline-rich protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001113511.2 → NP_001106983.1  rho guanine nucleotide exchange factor 7 isoform c

      See identical proteins and their annotated locations for NP_001106983.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes isoform c.
      Source sequence(s)
      AB177848, AK093326, AL353704, BC060776, BM677392, DB180957
      Consensus CDS
      CCDS45068.1
      UniProtKB/Swiss-Prot
      B1ALK6, B1ALK8, Q14155, Q3LIA4, Q5W9H0, Q6P9G3, Q6PII2, Q86W63, Q8N3M1
      UniProtKB/TrEMBL
      A0A2X0SF98
      Related
      ENSP00000364893.2, ENST00000375741.6
      Conserved Domains (7) summary
      cd12061
      Location:188 → 241
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:272 → 449
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:480 → 578
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:634 → 732
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:138 → 184
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
      cl00030
      Location:21 → 128
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cl26464
      Location:583 → 664
      Atrophin-1; Atrophin-1 family

    2. NM_001113512.2 → NP_001106984.1  rho guanine nucleotide exchange factor 7 isoform d

      See identical proteins and their annotated locations for NP_001106984.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 3. The resulting protein (isoform d) is shorter than isoform c.
      Source sequence(s)
      AB177848, AK093326, AL353704, BC033905, BC060776, BM677392, DB180957
      Consensus CDS
      CCDS45069.1
      UniProtKB/TrEMBL
      A0A2X0SF98
      Related
      ENSP00000364891.2, ENST00000375739.6
      Conserved Domains (7) summary
      cd12061
      Location:138 → 191
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      smart00033
      Location:21 → 75
      CH; Calponin homology domain
      cd00160
      Location:222 → 399
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:430 → 528
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:448 → 528
      PH; PH domain
      pfam16614
      Location:584 → 682
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:88 → 134
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    3. NM_001113513.2 → NP_001106985.1  rho guanine nucleotide exchange factor 7 isoform a

      See identical proteins and their annotated locations for NP_001106985.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains a different 3' coding region and 3' UTR, compared to variant 1. It initiates translation at a downstream start codon. Variants 1, 5, 6, 18, and 19 all encode isoform a (also known as p85Cool-1), which has a shorter N-terminus and a longer and distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AL390754, BC050521, CF121796, CF144155, D63476, DA216264
      Consensus CDS
      CCDS9521.1
      Related
      ENSP00000397068.2, ENST00000426073.6
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:557 → 643
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    4. NM_001320851.2 → NP_001307780.1  rho guanine nucleotide exchange factor 7 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains a different 3' coding region and 3' UTR, compared to variant 1. It initiates translation at a downstream start codon. Variants 1, 5, 6, 18, and 19 all encode isoform a (also known as p85Cool-1), which has a shorter N-terminus and a longer and distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AB177849, AL390754, BC050521, CF121796, CF144155, D63476, DA404477
      Consensus CDS
      CCDS9521.1
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:557 → 643
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    5. NM_001320852.1 → NP_001307781.1  rho guanine nucleotide exchange factor 7 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an in-frame exon in the 5' coding region and differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (e) lacks a portion of the N-terminus and has a longer, distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS91837.1
      UniProtKB/TrEMBL
      A0A2X0SF98, A0A8V8TQ72
      Related
      ENSP00000514984.1, ENST00000700426.1
      Conserved Domains (8) summary
      cd12061
      Location:167 → 220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:21 → 107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251 → 428
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:459 → 557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:477 → 557
      PH; PH domain
      pfam16523
      Location:714 → 800
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:613 → 711
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117 → 163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    6. NM_001320853.2 → NP_001307782.1  rho guanine nucleotide exchange factor 7 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains a different 3' coding region and 3' UTR, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (f) has a shorter N-terminus and a longer and distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AK300272, BC050521, CF121796, CF144155
      UniProtKB/TrEMBL
      B7Z6G2, Q5W9H1
      Conserved Domains (7) summary
      cd12061
      Location:85 → 138
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:169 → 346
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:377 → 475
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:395 → 475
      PH; PH domain
      pfam16523
      Location:632 → 718
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:531 → 629
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:35 → 81
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    7. NM_001320854.2 → NP_001307783.1  rho guanine nucleotide exchange factor 7 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (g) has a distinct, shorter N-terminus, compared to isoform c.
      Source sequence(s)
      AK093326, AK295472, AK308897, BC060776, BM677392, DB180957
      Consensus CDS
      CCDS81781.1
      UniProtKB/TrEMBL
      B7Z344, E9PDQ5
      Related
      ENSP00000417596.1, ENST00000478679.5
      Conserved Domains (4) summary
      cd00160
      Location:16 → 193
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:224 → 322
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:242 → 322
      PH; PH domain
      pfam16614
      Location:378 → 476
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7

    8. NM_001330597.2 → NP_001317526.1  rho guanine nucleotide exchange factor 7 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. It initiates translation at a downstream start codon. The resulting protein (isoform h) has a shorter N-terminus than isoform c. Variants 10, 11, and 22-26 all encode the same isoform (h).
      Source sequence(s)
      AB075521, AL139086, AL390754, AW872844, BC060776, D63476, DA404477
      Consensus CDS
      CCDS86362.1
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (5) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    9. NM_001330598.2 → NP_001317527.1  rho guanine nucleotide exchange factor 7 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. It initiates translation at a downstream start codon. The resulting protein (isoform h) has a shorter N-terminus than isoform c. Variants 10, 11, and 22-26 all encode the same isoform (h).
      Source sequence(s)
      AB075521, AB177849, AL139086, AL390754, AW872844, BC060776, D63476, DA404477
      Consensus CDS
      CCDS86362.1
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (5) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    10. NM_001354046.2 → NP_001340975.1  rho guanine nucleotide exchange factor 7 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) encodes the longest isoform (i).
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86360.1
      UniProtKB/TrEMBL
      A0A2R8YG42, A0A2X0SF98
      Related
      ENSP00000495631.1, ENST00000646102.2
      Conserved Domains (8) summary
      cd12061
      Location:167 → 220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:21 → 107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251 → 428
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:459 → 557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:773 → 859
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:613 → 711
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117 → 163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
      cl26464
      Location:562 → 643
      Atrophin-1; Atrophin-1 family

    11. NM_001354047.1 → NP_001340976.1  rho guanine nucleotide exchange factor 7 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL139086, AL353704, AL390754
      UniProtKB/TrEMBL
      A0A2X0SF98
      Conserved Domains (6) summary
      cd12061
      Location:95 → 148
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      smart00033
      Location:21 → 96
      CH; Calponin homology domain
      cd00160
      Location:179 → 356
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:387 → 485
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:541 → 639
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:490 → 571
      Atrophin-1; Atrophin-1 family

    12. NM_001354048.1 → NP_001340977.1  rho guanine nucleotide exchange factor 7 isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 15-17, encodes isoform k.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86361.1
      UniProtKB/TrEMBL
      B1ALK7
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:616 → 702
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    13. NM_001354049.2 → NP_001340978.1  rho guanine nucleotide exchange factor 7 isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 14, 16, and 17, encodes isoform k.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86361.1
      UniProtKB/TrEMBL
      B1ALK7
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:616 → 702
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    14. NM_001354050.2 → NP_001340979.1  rho guanine nucleotide exchange factor 7 isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 14, 15, and 17, encodes isoform k.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86361.1
      UniProtKB/TrEMBL
      B1ALK7
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:616 → 702
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    15. NM_001354051.2 → NP_001340980.1  rho guanine nucleotide exchange factor 7 isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 14-16, encodes isoform k.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86361.1
      UniProtKB/TrEMBL
      B1ALK7
      Related
      ENSP00000218789.5, ENST00000218789.9
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:616 → 702
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    16. NM_001354052.2 → NP_001340981.1  rho guanine nucleotide exchange factor 7 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 1, 5, 6, and 19, encodes isoform a.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS9521.1
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:557 → 643
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    17. NM_001354053.2 → NP_001340982.1  rho guanine nucleotide exchange factor 7 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 1, 5, 6, and 18, encodes isoform a.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS9521.1
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:557 → 643
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    18. NM_001354054.2 → NP_001340983.1  rho guanine nucleotide exchange factor 7 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL139086, AL353704, AL390754
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:569 → 655
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 566
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:407 → 490
      Atrophin-1; Atrophin-1 family

    19. NM_001354055.2 → NP_001340984.1  rho guanine nucleotide exchange factor 7 isoform m

      Status: REVIEWED

      Source sequence(s)
      AL139086
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (5) summary
      cd00160
      Location:16 → 193
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:224 → 322
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:538 → 624
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:378 → 476
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:327 → 408
      Atrophin-1; Atrophin-1 family

    20. NM_001354056.1 → NP_001340985.1  rho guanine nucleotide exchange factor 7 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 10, 11, and 23-26, encodes isoform h.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86362.1
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (5) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    21. NM_001354057.2 → NP_001340986.1  rho guanine nucleotide exchange factor 7 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23), as well as variants 10, 11, 22, and 24-26, encodes isoform h.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86362.1
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (5) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    22. NM_001354058.2 → NP_001340987.1  rho guanine nucleotide exchange factor 7 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 10, 11, 22, 23, 25, and 26, encodes isoform h.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86362.1
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (5) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    23. NM_001354059.2 → NP_001340988.1  rho guanine nucleotide exchange factor 7 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 10, 11, 22-24, and 26, encodes isoform h.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86362.1
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (5) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    24. NM_001354060.2 → NP_001340989.1  rho guanine nucleotide exchange factor 7 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26), as well as variants 10, 11, and 22-25, encodes isoform h.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS86362.1
      UniProtKB/TrEMBL
      B7Z344
      Related
      ENSP00000364875.1, ENST00000375723.5
      Conserved Domains (5) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    25. NM_001354061.2 → NP_001340990.1  rho guanine nucleotide exchange factor 7 isoform n

      Status: REVIEWED

      Source sequence(s)
      AL139086
      UniProtKB/TrEMBL
      B7Z344
      Conserved Domains (4) summary
      cd00160
      Location:20 → 147
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:178 → 276
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:332 → 430
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:283 → 366
      Atrophin-1; Atrophin-1 family

    26. NM_003899.5 → NP_003890.1  rho guanine nucleotide exchange factor 7 isoform a

      See identical proteins and their annotated locations for NP_003890.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains a different 3' coding region and 3' UTR, compared to variant 1. It initiates translation at a downstream start codon. Variants 1, 5, 6, 18, and 19 all encode isoform a (also known as p85Cool-1), which has a shorter N-terminus and a longer and distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AL139086, AL353704, AL390754
      Consensus CDS
      CCDS9521.1
      Related
      ENSP00000364888.4, ENST00000375736.8
      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:557 → 643
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:405 → 486
      Atrophin-1; Atrophin-1 family

    27. NM_145735.3 → NP_663788.1  rho guanine nucleotide exchange factor 7 isoform b

      See identical proteins and their annotated locations for NP_663788.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 3. The resulting protein (isoform b) is shorter than isoform c.
      Source sequence(s)
      AB177848, AK093326, AL353704, AL834228, BC060776, BM677392, DB180957
      Consensus CDS
      CCDS32009.1
      UniProtKB/TrEMBL
      A0A2X0SF98
      Related
      ENSP00000325994.5, ENST00000317133.9
      Conserved Domains (7) summary
      cd12061
      Location:167 → 220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:21 → 107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251 → 428
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:459 → 557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:477 → 557
      PH; PH domain
      pfam16614
      Location:613 → 711
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117 → 163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      111114619..111305734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430722.1 → XP_047286678.1  rho guanine nucleotide exchange factor 7 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SF98

    2. XM_006719956.4 → XP_006720019.1  rho guanine nucleotide exchange factor 7 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SF98
      Conserved Domains (8) summary
      cd12061
      Location:167 → 220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:21 → 107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251 → 428
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:459 → 557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:477 → 557
      PH; PH domain
      pfam16523
      Location:726 → 812
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:613 → 723
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117 → 163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    3. XM_047430726.1 → XP_047286682.1  rho guanine nucleotide exchange factor 7 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SF98

    4. XM_017020815.2 → XP_016876304.1  rho guanine nucleotide exchange factor 7 isoform X10

    5. XM_047430728.1 → XP_047286684.1  rho guanine nucleotide exchange factor 7 isoform X8

      UniProtKB/TrEMBL
      A0A2X0SF98

    6. XM_047430732.1 → XP_047286688.1  rho guanine nucleotide exchange factor 7 isoform X12

    7. XM_047430723.1 → XP_047286679.1  rho guanine nucleotide exchange factor 7 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SF98

    8. XM_047430724.1 → XP_047286680.1  rho guanine nucleotide exchange factor 7 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SF98

    9. XM_047430729.1 → XP_047286685.1  rho guanine nucleotide exchange factor 7 isoform X9

      UniProtKB/TrEMBL
      A0A2X0SF98

    10. XM_011521133.3 → XP_011519435.1  rho guanine nucleotide exchange factor 7 isoform X18

      Conserved Domains (5) summary
      cd12061
      Location:167 → 220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:21 → 107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251 → 428
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      pfam16615
      Location:117 → 163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
      cl17171
      Location:459 → 503
      PH-like; Pleckstrin homology-like domain

    11. XM_047430738.1 → XP_047286694.1  rho guanine nucleotide exchange factor 7 isoform X13

    12. XM_047430742.1 → XP_047286698.1  rho guanine nucleotide exchange factor 7 isoform X15

    13. XM_047430745.1 → XP_047286701.1  rho guanine nucleotide exchange factor 7 isoform X16

    14. XM_047430733.1 → XP_047286689.1  rho guanine nucleotide exchange factor 7 isoform X13

    15. XM_047430735.1 → XP_047286691.1  rho guanine nucleotide exchange factor 7 isoform X13

    16. XM_047430744.1 → XP_047286700.1  rho guanine nucleotide exchange factor 7 isoform X16

    17. XM_047430736.1 → XP_047286692.1  rho guanine nucleotide exchange factor 7 isoform X13

    18. XM_017020822.2 → XP_016876311.1  rho guanine nucleotide exchange factor 7 isoform X15

      Conserved Domains (6) summary
      cd12061
      Location:10 → 63
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94 → 271
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:302 → 400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16523
      Location:569 → 655
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456 → 566
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      cl26464
      Location:407 → 490
      Atrophin-1; Atrophin-1 family

    19. XM_047430741.1 → XP_047286697.1  rho guanine nucleotide exchange factor 7 isoform X14

      UniProtKB/TrEMBL
      B1ALK7

    20. XM_047430747.1 → XP_047286703.1  rho guanine nucleotide exchange factor 7 isoform X19

      UniProtKB/TrEMBL
      E7EUY6
      Related
      ENSP00000418067.1, ENST00000466143.5

    21. XM_047430748.1 → XP_047286704.1  rho guanine nucleotide exchange factor 7 isoform X20

    22. XM_047430750.1 → XP_047286706.1  rho guanine nucleotide exchange factor 7 isoform X20

    23. XM_047430751.1 → XP_047286707.1  rho guanine nucleotide exchange factor 7 isoform X20

    24. XM_047430739.1 → XP_047286695.1  rho guanine nucleotide exchange factor 7 isoform X13

    25. XM_047430740.1 → XP_047286696.1  rho guanine nucleotide exchange factor 7 isoform X13

    26. XM_047430737.1 → XP_047286693.1  rho guanine nucleotide exchange factor 7 isoform X13

    27. XM_047430743.1 → XP_047286699.1  rho guanine nucleotide exchange factor 7 isoform X16

    28. XM_047430734.1 → XP_047286690.1  rho guanine nucleotide exchange factor 7 isoform X13

    29. XM_047430725.1 → XP_047286681.1  rho guanine nucleotide exchange factor 7 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SF98

    30. XM_047430730.1 → XP_047286686.1  rho guanine nucleotide exchange factor 7 isoform X11

      UniProtKB/TrEMBL
      A0A2X0SF98

    31. XM_047430727.1 → XP_047286683.1  rho guanine nucleotide exchange factor 7 isoform X7

      UniProtKB/TrEMBL
      A0A2X0SF98

    32. XM_047430746.1 → XP_047286702.1  rho guanine nucleotide exchange factor 7 isoform X17

    RNA

    1. XR_007063704.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      110344517..110535326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375112.1 → XP_054231087.1  rho guanine nucleotide exchange factor 7 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SF98

    2. XM_054375115.1 → XP_054231090.1  rho guanine nucleotide exchange factor 7 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SF98

    3. XM_054375116.1 → XP_054231091.1  rho guanine nucleotide exchange factor 7 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SF98

    4. XM_054375120.1 → XP_054231095.1  rho guanine nucleotide exchange factor 7 isoform X10

    5. XM_054375118.1 → XP_054231093.1  rho guanine nucleotide exchange factor 7 isoform X8

      UniProtKB/TrEMBL
      A0A2X0SF98

    6. XM_054375122.1 → XP_054231097.1  rho guanine nucleotide exchange factor 7 isoform X12

    7. XM_054375113.1 → XP_054231088.1  rho guanine nucleotide exchange factor 7 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SF98

    8. XM_054375114.1 → XP_054231089.1  rho guanine nucleotide exchange factor 7 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SF98

    9. XM_054375119.1 → XP_054231094.1  rho guanine nucleotide exchange factor 7 isoform X9

      UniProtKB/TrEMBL
      A0A2X0SF98

    10. XM_054375138.1 → XP_054231113.1  rho guanine nucleotide exchange factor 7 isoform X18

    11. XM_054375128.1 → XP_054231103.1  rho guanine nucleotide exchange factor 7 isoform X13

    12. XM_054375132.1 → XP_054231107.1  rho guanine nucleotide exchange factor 7 isoform X15

    13. XM_054375136.1 → XP_054231111.1  rho guanine nucleotide exchange factor 7 isoform X16

    14. XM_054375123.1 → XP_054231098.1  rho guanine nucleotide exchange factor 7 isoform X13

    15. XM_054375125.1 → XP_054231100.1  rho guanine nucleotide exchange factor 7 isoform X13

    16. XM_054375135.1 → XP_054231110.1  rho guanine nucleotide exchange factor 7 isoform X16

    17. XM_054375126.1 → XP_054231101.1  rho guanine nucleotide exchange factor 7 isoform X13

    18. XM_054375133.1 → XP_054231108.1  rho guanine nucleotide exchange factor 7 isoform X15

    19. XM_054375131.1 → XP_054231106.1  rho guanine nucleotide exchange factor 7 isoform X14

      UniProtKB/TrEMBL
      B1ALK7

    20. XM_054375139.1 → XP_054231114.1  rho guanine nucleotide exchange factor 7 isoform X19

      UniProtKB/TrEMBL
      E7EUY6

    21. XM_054375140.1 → XP_054231115.1  rho guanine nucleotide exchange factor 7 isoform X20

    22. XM_054375141.1 → XP_054231116.1  rho guanine nucleotide exchange factor 7 isoform X20

    23. XM_054375142.1 → XP_054231117.1  rho guanine nucleotide exchange factor 7 isoform X20

    24. XM_054375127.1 → XP_054231102.1  rho guanine nucleotide exchange factor 7 isoform X13

    25. XM_054375134.1 → XP_054231109.1  rho guanine nucleotide exchange factor 7 isoform X16

    26. XM_054375130.1 → XP_054231105.1  rho guanine nucleotide exchange factor 7 isoform X13

    27. XM_054375129.1 → XP_054231104.1  rho guanine nucleotide exchange factor 7 isoform X13

    28. XM_054375124.1 → XP_054231099.1  rho guanine nucleotide exchange factor 7 isoform X13

    29. XM_054375121.1 → XP_054231096.1  rho guanine nucleotide exchange factor 7 isoform X11

      UniProtKB/TrEMBL
      A0A2X0SF98

    30. XM_054375117.1 → XP_054231092.1  rho guanine nucleotide exchange factor 7 isoform X7

      UniProtKB/TrEMBL
      A0A2X0SF98

    31. XM_054375137.1 → XP_054231112.1  rho guanine nucleotide exchange factor 7 isoform X17

    RNA

    1. XR_008488792.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14155.2 GenPept UniProtKB/Swiss-Prot:Q14155

    Gene LinkOut

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