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    ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 [ Homo sapiens (human) ]

    Gene ID: 9459, updated on 3-Dec-2024

    Summary

    Official Symbol
    ARHGEF6provided by HGNC
    Official Full Name
    Rac/Cdc42 guanine nucleotide exchange factor 6provided by HGNC
    Primary source
    HGNC:HGNC:685
    See related
    Ensembl:ENSG00000129675 MIM:300267; AllianceGenome:HGNC:685
    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
    PIXA; COOL2; MRX46; Cool-2; alphaPIX; alpha-PIX
    Summary
    Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in fat (RPKM 22.0), lymph node (RPKM 16.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGEF6 in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (136665550..136780932, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (134974276..135089655, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (135747709..135863091, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21028 Neighboring gene CD40 ligand Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21030 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:135849488-135849656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29996 Neighboring gene RNA, U6 small nuclear 972, pseudogene Neighboring gene solute carrier family 25 member 6 pseudogene Neighboring gene ribosomal protein L7 pseudogene 56

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-04-25)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-04-25)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef binding and activation of p62 PAK induces the interaction and phosphorylation of PIX with the Nef-PAK complex PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0006

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in JNK cascade NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic process NAS
    Non-traceable Author Statement
    more info
    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
     
    Component Evidence Code Pubs
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    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
     

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 6
    Names
    PAK-interacting exchange factor, alpha
    Rac/Cdc42 guanine exchange factor (GEF) 6
    Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008873.1 RefSeqGene

      Range
      5413..120795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001306177.2NP_001293106.1  rho guanine nucleotide exchange factor 6 isoform 2

      See identical proteins and their annotated locations for NP_001293106.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two 5' exons and contains an alternate 5' terminal exon, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK294929, AK295709, AL135783, BC033768
      Consensus CDS
      CCDS78509.1
      UniProtKB/TrEMBL
      B7Z3C7
      Related
      ENSP00000359654.1, ENST00000370620.5
      Conserved Domains (6) summary
      cd12060
      Location:865
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:88265
      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:296393
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:313394
      PH; PH domain
      pfam16523
      Location:527613
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:419524
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    2. NM_004840.3NP_004831.1  rho guanine nucleotide exchange factor 6 isoform 1

      See identical proteins and their annotated locations for NP_004831.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC033768, BC039856
      Consensus CDS
      CCDS14660.1
      UniProtKB/Swiss-Prot
      A6NMW9, A8K6S7, B1AL37, Q15052, Q15396, Q5JQ66, Q7Z3W1, Q86XH0
      UniProtKB/TrEMBL
      A0A2X0SSH0
      Related
      ENSP00000250617.6, ENST00000250617.7
      Conserved Domains (8) summary
      cd12060
      Location:162219
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:242419
      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:450547
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:467548
      PH; PH domain
      pfam00307
      Location:3105
      CH; Calponin homology (CH) domain
      pfam16523
      Location:681767
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:573678
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:115160
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      136665550..136780932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262499.4XP_005262556.1  rho guanine nucleotide exchange factor 6 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SSH0
      Conserved Domains (8) summary
      cd12060
      Location:162219
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:242419
      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:450547
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:467548
      PH; PH domain
      pfam00307
      Location:3105
      CH; Calponin homology (CH) domain
      pfam16523
      Location:632718
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:572629
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:115160
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    2. XM_047442672.1XP_047298628.1  rho guanine nucleotide exchange factor 6 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SSH0
    3. XM_011531413.3XP_011529715.1  rho guanine nucleotide exchange factor 6 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SSH0
      Conserved Domains (8) summary
      cd12060
      Location:162219
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:242419
      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:450547
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:467548
      PH; PH domain
      pfam00307
      Location:3105
      CH; Calponin homology (CH) domain
      pfam16523
      Location:685771
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:578682
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:115160
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    4. XM_011531412.4XP_011529714.1  rho guanine nucleotide exchange factor 6 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SSH0
      Conserved Domains (8) summary
      cd12060
      Location:162219
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:269446
      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:477574
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:494575
      PH; PH domain
      pfam00307
      Location:3105
      CH; Calponin homology (CH) domain
      pfam16523
      Location:708794
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:600705
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:115160
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    5. XM_017029975.3XP_016885464.1  rho guanine nucleotide exchange factor 6 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SSH0
    6. XM_047442675.1XP_047298631.1  rho guanine nucleotide exchange factor 6 isoform X9

      UniProtKB/TrEMBL
      B7Z3C7
    7. XM_047442674.1XP_047298630.1  rho guanine nucleotide exchange factor 6 isoform X8

      UniProtKB/TrEMBL
      A0A2X0SSH0
    8. XM_047442673.1XP_047298629.1  rho guanine nucleotide exchange factor 6 isoform X7

      UniProtKB/TrEMBL
      A0A2X0SSH0
    9. XM_011531415.3XP_011529717.1  rho guanine nucleotide exchange factor 6 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SSH0
      Conserved Domains (7) summary
      cd12060
      Location:105162
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:212389
      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:420517
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:437518
      PH; PH domain
      pfam16523
      Location:651737
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:543648
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:58103
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      134974276..135089655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328173.1XP_054184148.1  rho guanine nucleotide exchange factor 6 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SSH0
    2. XM_054328171.1XP_054184146.1  rho guanine nucleotide exchange factor 6 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SSH0
    3. XM_054328170.1XP_054184145.1  rho guanine nucleotide exchange factor 6 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SSH0
    4. XM_054328169.1XP_054184144.1  rho guanine nucleotide exchange factor 6 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SSH0
    5. XM_054328168.1XP_054184143.1  rho guanine nucleotide exchange factor 6 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SSH0
    6. XM_054328176.1XP_054184151.1  rho guanine nucleotide exchange factor 6 isoform X9

      UniProtKB/TrEMBL
      B7Z3C7
    7. XM_054328175.1XP_054184150.1  rho guanine nucleotide exchange factor 6 isoform X8

      UniProtKB/TrEMBL
      A0A2X0SSH0
    8. XM_054328174.1XP_054184149.1  rho guanine nucleotide exchange factor 6 isoform X7

      UniProtKB/TrEMBL
      A0A2X0SSH0
    9. XM_054328172.1XP_054184147.1  rho guanine nucleotide exchange factor 6 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SSH0