ARHGAP5 Rho GTPase activating protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP5provided by HGNC
Official Full Name: Rho GTPase activating protein 5provided by HGNC
Primary source: HGNC:HGNC:675
See related: Ensembl:ENSG00000100852 MIM:602680; AllianceGenome:HGNC:675
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: GFI2; p190-B; RhoGAP5; p190BRhoGAP
Summary: Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 21.1), brain (RPKM 17.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (32077304..32159728)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (26274927..26357362)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (32546510..32628934)

Chromosome 14 - NC_000014.9 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?

Circular RNA ARHGAP5 inhibits cisplatin resistance in cervical squamous cell carcinoma by interacting with AUF1.
Title: Circular RNA ARHGAP5 inhibits cisplatin resistance in cervical squamous cell carcinoma by interacting with AUF1.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Title: The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Investigation of the role and mechanism of ARHGAP5-mediated colorectal cancer metastasis.
Title: Investigation of the role and mechanism of ARHGAP5-mediated colorectal cancer metastasis.
These results indicate that SIRT1 suppresses migration and invasion of gastric cancer by downregulating ARHGAP5 through an interaction with c-JUN, and these phenomena represent a novel mechanism of the antitumor action of SIRT1.
Title: SIRT1 suppresses the migration and invasion of gastric cancer by regulating ARHGAP5 expression.
only collagen-IV elicits the formation of proteolytically active podosomes through a mechanism involving increased Src phosphorylation, p190RhoGAP-B (also known as ARHGAP5) relocalisation and MT1-MMP (also known as MMP14) cell surface exposure at podosome sites.
Title: VEGF-A stimulates podosome-mediated collagen-IV proteolysis in microvascular endothelial cells.
Brazilian Amerindian ancestry compared to Asian, European, and African Genomes.SNPs within or proximal to CIITA (rs6498115), SMC6 (rs1834619), and KLHL29 (rs2288697) were most differentiated in the Amerindian-specific branch. SNPs in ADAMTS9 (rs7631391), DOCK2 (rs77594147), SLC28A1 (rs28649017), ARHGAP5 (rs7151991), and CIITA (rs45601437) in the Asian comparison.
Title: Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions.
This newly identified miR-744/ARHGAP5 pathway provides further insight into the progression and metastasis of NPC and indicates potential novel therapeutic targets for NPC.
Title: MiR-744 functions as a proto-oncogene in nasopharyngeal carcinoma progression and metastasis via transcriptional control of ARHGAP5.
Ectopic expression of p190B suppressed the miR-494-induced EGFR upregulation.
Title: Ionizing radiation-inducible miR-494 promotes glioma cell invasion through EGFR stabilization by targeting p190B rhoGAP.
The expression level of miR-486-5p was inversely correlated with that of ARHGAP5.
Title: Downregulation of miR-486-5p contributes to tumor progression and metastasis by targeting protumorigenic ARHGAP5 in lung cancer.
RhoA is down-regulated at cell-cell contacts via p190RhoGAP-B in response to tensional homeostasis.
Title: RhoA is down-regulated at cell-cell contacts via p190RhoGAP-B in response to tensional homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

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

Arhgap5 (e-PCR), detects polymorphism
- UniSTS:526932

SHGC-36390 (e-PCR)
- UniSTS:80987

RH104330 (e-PCR)
- UniSTS:98655

RH45106 (e-PCR)
- UniSTS:10594

G36303 (e-PCR)
- UniSTS:78179

Arhgap5 (e-PCR), detects polymorphism
- UniSTS:506738

RH68433 (e-PCR)
- UniSTS:28547

G35570 (e-PCR)
- UniSTS:24490

RH18005 (e-PCR)
- UniSTS:32239

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 GTPase activity	TAS Traceable Author Statement more info	PubMed
enables SH2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in mammary gland development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell size	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rho GTPase-activating protein 5

Names: growth factor independent 2; p100 RasGAP-associated p105 protein; p105 RhoGAP; rho-type GTPase-activating protein 5

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_001030055.2 → NP_001025226.1 rho GTPase-activating protein 5 isoform a

See identical proteins and their annotated locations for NP_001025226.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AL045112, AL161665, BC050059

Consensus CDS

CCDS32062.1

UniProtKB/Swiss-Prot

A1L375, A1L376, A8KAA1, D3DS89, D3DS90, Q05BE8, Q05BU8, Q13017, Q59ER0, Q6DHZ3

UniProtKB/TrEMBL

A0A2X0SYS0

Related

ENSP00000371897.1, ENST00000345122.8

Conserved Domains (5) summary

smart00441
Location:429 → 481

FF; Contains two conserved F residues

cd04373
Location:1260 → 1444

RhoGAP_p190; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p190-like proteins. p190, also named RhoGAP5, plays a role in neuritogenesis and axon branch stability. p190 shows a preference for Rho, over Rac and Cdc42, and consists of an ...

pfam16512
Location:260 → 338

RhoGAP-FF1; p190-A and -B Rho GAPs FF domain

cd22220
Location:592 → 762

pseudoGTPaseD_p190RhoGAP-B; pseudoGTPase domain found in p190RhoGAP-B and similar proteins

cl38936
Location:31 → 246

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001173.3 → NP_001164.2 rho GTPase-activating protein 5 isoform b

See identical proteins and their annotated locations for NP_001164.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is one aa shorter compared to isoform a.

Source sequence(s)

AL045112, AL161665, CA945100

Consensus CDS

CCDS45095.1

UniProtKB/TrEMBL

A0A2X0SYS0

Related

ENSP00000452222.1, ENST00000556611.5

Conserved Domains (4) summary

smart00441
Location:429 → 481

FF; Contains two conserved F residues

cd04373
Location:1259 → 1443

RhoGAP_p190; RhoGAP_p190: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p190-like proteins. p190, also named RhoGAP5, plays a role in neuritogenesis and axon branch stability. p190 shows a preference for Rho, over Rac and Cdc42, and ...

pfam16512
Location:260 → 338

RhoGAP-FF1; p190-A and -B Rho GAPs FF domain

cl21455
Location:31 → 246

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases