U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    ARHGAP30 Rho GTPase activating protein 30 [ Homo sapiens (human) ]

    Gene ID: 257106, updated on 9-Dec-2024

    Summary

    Official Symbol
    ARHGAP30provided by HGNC
    Official Full Name
    Rho GTPase activating protein 30provided by HGNC
    Primary source
    HGNC:HGNC:27414
    See related
    Ensembl:ENSG00000186517 MIM:614264; AllianceGenome:HGNC:27414
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in small GTPase-mediated signal transduction. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lymph node (RPKM 43.4), spleen (RPKM 39.2) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGAP30 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161046946..161069891, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160184453..160207382, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161016736..161039681, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1971 Neighboring gene thiosulfate sulfurtransferase like domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1972 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:161015335-161016534 Neighboring gene upstream transcription factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161038974-161039520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161044543-161045219 Neighboring gene nectin cell adhesion molecule 4 Neighboring gene NECTIN4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1467 Neighboring gene kelch domain containing 9

    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

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ00267, FLJ44128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in small GTPase-mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    rho GTPase-activating protein 30
    Names
    rho-type GTPase-activating protein 30

    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.

    mRNA and Protein(s)

    1. NM_001025598.2NP_001020769.1  rho GTPase-activating protein 30 isoform 1

      See identical proteins and their annotated locations for NP_001020769.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK160366, AL591806
      Consensus CDS
      CCDS30918.1
      UniProtKB/Swiss-Prot
      Q5SY52, Q5SY53, Q5SY54, Q6ZML6, Q7Z3J8, Q7Z6I6, Q86XI7
      Related
      ENSP00000356992.3, ENST00000368013.8
      Conserved Domains (3) summary
      PRK07003
      Location:332413
      PRK07003; DNA polymerase III subunit gamma/tau
      cd04384
      Location:16210
      RhoGAP_CdGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP is recruited to ...
      TIGR00927
      Location:673887
      2A1904; K+-dependent Na+/Ca+ exchanger
    2. NM_001287600.2NP_001274529.1  rho GTPase-activating protein 30 isoform 3

      See identical proteins and their annotated locations for NP_001274529.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and uses a downstream translation initiation codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA835836, AK126163, AK160366, BC043387, DA814767
      UniProtKB/Swiss-Prot
      Q7Z6I6
      Conserved Domains (1) summary
      cl02570
      Location:162
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    3. NM_001287602.2NP_001274531.1  rho GTPase-activating protein 30 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 4.
      Source sequence(s)
      AA835836, AK126163, AK160366, DA814767
      Consensus CDS
      CCDS72958.1
      UniProtKB/TrEMBL
      A0A0A0MRJ8
      Related
      ENSP00000356994.1, ENST00000368015.1
      Conserved Domains (1) summary
      cl02570
      Location:133
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    4. NM_181720.3NP_859071.2  rho GTPase-activating protein 30 isoform 2

      See identical proteins and their annotated locations for NP_859071.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK160366, AL832852, AL833477, BC025732, BC053688
      Consensus CDS
      CCDS1215.1
      UniProtKB/TrEMBL
      A0A0A0MRJ9
      Related
      ENSP00000356995.3, ENST00000368016.7
      Conserved Domains (2) summary
      cd04384
      Location:16210
      RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...
      cl26386
      Location:332413
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161046946..161069891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245073.4XP_005245130.1  rho GTPase-activating protein 30 isoform X2

      See identical proteins and their annotated locations for XP_005245130.1

      UniProtKB/Swiss-Prot
      Q7Z6I6
      Conserved Domains (1) summary
      cl02570
      Location:162
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    2. XM_047417140.1XP_047273096.1  rho GTPase-activating protein 30 isoform X3

    3. XM_011509391.3XP_011507693.1  rho GTPase-activating protein 30 isoform X2

      See identical proteins and their annotated locations for XP_011507693.1

      UniProtKB/Swiss-Prot
      Q7Z6I6
      Conserved Domains (1) summary
      cl02570
      Location:162
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    4. XM_005245070.3XP_005245127.1  rho GTPase-activating protein 30 isoform X1

      Conserved Domains (1) summary
      cd04384
      Location:16210
      RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160184453..160207382 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335845.1XP_054191820.1  rho GTPase-activating protein 30 isoform X2

    2. XM_054335846.1XP_054191821.1  rho GTPase-activating protein 30 isoform X3

    3. XM_054335844.1XP_054191819.1  rho GTPase-activating protein 30 isoform X2

    4. XM_054335843.1XP_054191818.1  rho GTPase-activating protein 30 isoform X1