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ARHGAP31 Rho GTPase activating protein 31 [ Homo sapiens (human) ]

Gene ID: 57514, updated on 24-Nov-2020

Summary

Official Symbol
ARHGAP31provided by HGNC
Official Full Name
Rho GTPase activating protein 31provided by HGNC
Primary source
HGNC:HGNC:29216
See related
Ensembl:ENSG00000031081 MIM:610911
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
AOS1; CDGAP
Summary
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lung (RPKM 13.9), fat (RPKM 10.8) and 22 other tissues See more
Orthologs

Genomic context

See ARHGAP31 in Genome Data Viewer
Location:
3q13.32-q13.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (119294289..119420714)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119013220..119138323)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uroplakin 1B Neighboring gene B4GALT4 antisense RNA 1 Neighboring gene beta-1,4-galactosyltransferase 4 Neighboring gene ARHGAP31 antisense RNA 1 Neighboring gene ribosomal protein S26 pseudogene 21 Neighboring gene RNA, U6 small nuclear 1127, pseudogene Neighboring gene transmembrane protein 39A Neighboring gene protein O-glucosyltransferase 1

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

Associated conditions

Description Tests
A comprehensive family-based replication study of schizophrenia genes.
GeneReviews: Not available
Adams-Oliver syndrome 1
MedGen: C4551482 OMIM: 100300 GeneReviews: Adams-Oliver Syndrome
Compare labs
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1204, MGC138368, MGC138370

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
small GTPase mediated signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
rho GTPase-activating protein 31
Names
Cdc42 GTPase-activating protein

NCBI Reference Sequences (RefSeq)

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_007665.2 RefSeqGene

    Range
    5011..131342
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020754.4NP_065805.2  rho GTPase-activating protein 31

    See identical proteins and their annotated locations for NP_065805.2

    Status: REVIEWED

    Source sequence(s)
    AB033030, AC092981, BC112163, BM970175, KF457672
    Consensus CDS
    CCDS43135.1
    UniProtKB/Swiss-Prot
    Q2M1Z3
    Related
    ENSP00000264245.4, ENST00000264245.9
    Conserved Domains (1) summary
    cd04384
    Location:17211
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    119294289..119420714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713714.3XP_006713777.1  rho GTPase-activating protein 31 isoform X1

    Conserved Domains (1) summary
    cd04384
    Location:17211
    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 ...
  2. XM_017006955.1XP_016862444.1  rho GTPase-activating protein 31 isoform X2

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