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

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; AllianceGenome:HGNC:29216
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: AOS; 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: mouse all
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Genomic context

Location:: 3q13.32-q13.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (119294383..119420714)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (122014089..122140425)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (119013230..119139561)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study demonstrate that CdGAP acts as a novel co-transcriptional repressor with Zeb2 to suppress E-cadherin expression in breast cancer cells.
Title: The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer.
a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31 underscores the relevance of sequencing ARHGAP31 in cases of isolated limb defects, irrespective of presence of a complete Adams-Oliver syndrome phenotype
Title: Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis.
Title: The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis.
Data demonstrate that cdGAP negatively regulates directed and random migration by controlling adhesion maturation and dynamics through the regulation of both adhesion assembly and disassembly.
Title: CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments.
specific interaction between negatively charged phospholipid PI(3,4,5)P3 and the stretch of polybasic residues preceding the RhoGAP domain regulates CdGAP activity in vivo and is required for its cellular functions.
Title: A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity.
Rho GTPase activating protein 31
Title: Genetic cause of rare disease may be involved in more common birth defects.
Our findings demonstrate that heterozygous gain-of-function mutations in ARHGAP31 cause an autosomal-dominant form of ACC-TTLD through introduction of premature termination codons in the terminal exon of the gene.
Title: Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.
Results suggest that CdGAP may play an unexpected role in apoptosis.
Title: The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.
CdGAP is a novel glycogen synthase kinase 3alpha (GSK-3alpha) substrate.
Title: Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site.

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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

Associated conditions

Description	Tests
Adams-Oliver syndrome 1 MedGen: C4551482 OMIM: 100300 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2023-06-13) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2023-06-13) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85123 (e-PCR)
- UniSTS:103493

SHGC-132468 (e-PCR)
- UniSTS:173913

RH99056 (e-PCR)
- UniSTS:89458

SHGC-7110 (e-PCR)
- UniSTS:39291

SHGC-144836 (e-PCR)
- UniSTS:172450

CDGAP_4536 (e-PCR)
- UniSTS:462798

SHGC-32480 (e-PCR)
- UniSTS:55806

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 SH3 domain binding	IEA Inferred from Electronic Annotation 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 cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: rho GTPase-activating protein 31

Names: Cdc42 GTPase-activating protein

NCBI Reference Sequences (RefSeq)

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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

NG_007665.2 RefSeqGene

Range

5011..131342

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020754.4 → NP_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, Q9ULL6

UniProtKB/TrEMBL

A0A8S0M5T0, A0A8S0MHV1

Related

ENSP00000264245.4, ENST00000264245.9

Conserved Domains (1) summary

cd04384
Location:17 → 211

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

119294383..119420714

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006713714.4 → XP_006713777.1 rho GTPase-activating protein 31 isoform X1

UniProtKB/TrEMBL

A0A8S0M5T0

Conserved Domains (1) summary

cd04384
Location:17 → 211

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 ...