ARHGAP1 Rho GTPase activating protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP1provided by HGNC
Official Full Name: Rho GTPase activating protein 1provided by HGNC
Primary source: HGNC:HGNC:673
See related: Ensembl:ENSG00000175220 MIM:602732
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: RHOGAP; RHOGAP1; CDC42GAP; p50rhoGAP
Summary: This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
Expression: Ubiquitous expression in urinary bladder (RPKM 39.6), heart (RPKM 37.9) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 11p11.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	11	NC_000011.10 (46677075..46700665, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (46698625..46722215, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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 FunctionsWhat's a GeneRIF?

identified ARHGAP1, which is a negative regulator of CDC42, as a novel, direct target of miR-130b
Title: miR-130b directly targets ARHGAP1 to drive activation of a metastatic CDC42-PAK1-AP1 positive feedback loop in Ewing sarcoma.
to complete invasion of the endothelium, staphylococci reorient recycling endocytic vesicles to recruit Cdc42GAP.
Title: Staphylococcus aureus recruits Cdc42GAP through recycling endosomes and the exocyst to invade human endothelial cells.
we identified novel associations in WLS , ARHGAP1 , and 5' of MEF2C ( P- values < 8x10 - 5 ; false discovery rate (FDR) q-values < 0.01) that were much more strongly associated with BMD compared to the GWAS SNPs.
Title: Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.
study shows that HMHA1 acts as a RhoGAP to regulate GTPase activity, cytoskeletal remodeling and cell spreading, which are crucial functions in normal hematopoietic and cancer cells
Title: The human minor histocompatibility antigen 1 is a RhoGAP.
The interaction of RhoGap protein stabilizes the tetrameric conformation of p53 and enhances its DNA-binding activity, thereby inducing cell-cycle arrest and apoptosis.
Title: RhoGAPs attenuate cell proliferation by direct interaction with p53 tetramerization domain.
In PC3 cells, ARHGAP21 presented GAP activity for RhoA and RhoC and induced changes in cell morphology. Moreover, its silencing altered the expression of genes involved in cell proliferation and cytoskeleton organization
Title: ARHGAP21 is a RhoGAP for RhoA and RhoC with a role in proliferation and migration of prostate adenocarcinoma cells.
RhoGAP Stard13 temporally and spatially regulates Rho activity in the developing pancreas to ensure that morphogenesis and establishment of tissue architecture are coordinated with organ growth.
Title: Rho signalling restriction by the RhoGAP Stard13 integrates growth and morphogenesis in the pancreas.
Rho proteins and ROK play a pivotal role in this signaling cascade
Title: Inhibition of Rho-kinase abrogates migration of human transitional cell carcinoma cells: results of an in vitro study.
PA and Rap1 cooperatively regulate RA-RhoGAP activity for promoting neurite outgrowth.
Title: Dual regulation of RA-RhoGAP activity by phosphatidic acid and Rap1 during neurite outgrowth.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation of ARHGAP9 in patients with coronary spastic angina.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. NHGRI GWA Catalog NHGRI GWA 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)

Pathways from BioSystems

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Regulation of CDC42 activity, organism-specific biosystem (from Pathway Interaction Database)
Regulation of CDC42 activity, organism-specific biosystem
Regulation of CDC42 activity
Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
Regulation of RAC1 activity, organism-specific biosystem
Regulation of RAC1 activity
Rho GTPase cycle, organism-specific biosystem (from REACTOME)
Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79109 (e-PCR)
- UniSTS:5171

D8S2279 (e-PCR)
- UniSTS:473907

RH36905 (e-PCR)
- UniSTS:87932

Homology

Homologs of the ARHGAP1 gene: The ARHGAP1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, C.elegans, S.pombe, and frog.
Orthologs from Annotation Pipeline: 247 organisms have orthologs with human gene ARHGAP1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
Rab GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
SH3 domain binding	IEA Inferred from Electronic Annotation more info
SH3/SH2 adaptor activity	TAS Traceable Author Statement more info	PubMed
cadherin binding	HDA more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Rho protein signal transduction	TAS Traceable Author Statement more info	PubMed
endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
positive regulation of signal transduction	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	IDA Inferred from Direct Assay more info	PubMed
transferrin transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
endosome membrane	IDA Inferred from Direct Assay more info	PubMed
extracellular exosome	HDA more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with sorting endosome	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: rho GTPase-activating protein 1

Names: CDC42 GTPase-activating protein; GTPase-activating protein rhoGAP; GTPase-activating protein rhoOGAP; GTPase-activating protein, Rho, 1; rho-related small GTPase protein activator; rho-type GTPase-activating protein 1

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.

mRNA and Protein(s)

NM_004308.5 → NP_004299.1 rho GTPase-activating protein 1

See identical proteins and their annotated locations for NP_004299.1

Status: REVIEWED

Source sequence(s)

AC115088

Consensus CDS

CCDS7922.1

UniProtKB/Swiss-Prot

Q07960

Related

ENSP00000310491.4, ENST00000311956.8

Conserved Domains (2) summary

cd04404
Location:239 → 431

RhoGAP-p50rhoGAP; RhoGAP-p50rhoGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol ...

pfam13716
Location:82 → 206

CRAL_TRIO_2; Divergent CRAL/TRIO domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p12 Primary Assembly

Range

46677075..46700665 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448520.1 → XP_024304288.1 rho GTPase-activating protein 1 isoform X1

Related

ENSP00000434883.1, ENST00000528837.5

Conserved Domains (2) summary

cd00170
Location:77 → 160

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

cd04404
Location:195 → 387

RhoGAP-p50rhoGAP; RhoGAP-p50rhoGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol ...
XM_011520095.2 → XP_011518397.1 rho GTPase-activating protein 1 isoform X2

See identical proteins and their annotated locations for XP_011518397.1

UniProtKB/Swiss-Prot

Q07960

Conserved Domains (2) summary

cd04404
Location:239 → 431

RhoGAP-p50rhoGAP; RhoGAP-p50rhoGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol ...

pfam13716
Location:82 → 206

CRAL_TRIO_2; Divergent CRAL/TRIO domain