ARHGAP17 Rho GTPase activating protein 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP17provided by HGNC
Official Full Name: Rho GTPase activating protein 17provided by HGNC
Primary source: HGNC:HGNC:18239
See related: Ensembl:ENSG00000140750 MIM:608293; AllianceGenome:HGNC:18239
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
Also known as: PP367; RICH1; WBP15; MST066; MST110; NADRIN; PP4534; RICH-1; MSTP038; MSTP066; MSTP110
Summary: RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
Expression: Ubiquitous expression in spleen (RPKM 24.3), lymph node (RPKM 19.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (24919389..25015369, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (25199011..25294991, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (24930710..25026690, complement)

Chromosome 16 - NC_000016.10 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 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?

ARHGAP17 regulates the spatiotemporal activity of Cdc42 at invadopodia.
Title: ARHGAP17 regulates the spatiotemporal activity of Cdc42 at invadopodia.
ARHGAP17 enhances 5-Fluorouracil-induced apoptosis in colon cancer cells by suppressing Rac1.
Title: ARHGAP17 enhances 5-Fluorouracil-induced apoptosis in colon cancer cells by suppressing Rac1.
ARHGAP17 inhibits pathological cyclic strain-induced apoptosis in human periodontal ligament fibroblasts via Rac1/Cdc42.
Title: ARHGAP17 inhibits pathological cyclic strain-induced apoptosis in human periodontal ligament fibroblasts via Rac1/Cdc42.
ARHGAP17 functions as a tumor suppressor in cervical cancer that suppresses tumor growth, at least partly, through inhibition of PI3K/AKT signaling and up-regulation of P21 and P27 expression.
Title: ARHGAP17 suppresses tumor progression and up-regulates P21 and P27 expression via inhibiting PI3K/AKT signaling pathway in cervical cancer.
The bevacizumab-independent VEGF/NRP1/ARHGAP17/Cdc42 regulatory network plays important roles in malignant behavior of breast cancer.
Title: Long isoform of VEGF stimulates cell migration of breast cancer by filopodia formation via NRP1/ARHGAP17/Cdc42 regulatory network.
In vitro analysis demonstrated that ARHGAP17 overexpression inhibited cell growth and invasion of HCT-8 and HCT-116 cells.
Title: Tumor Suppressive Role of ARHGAP17 in Colon Cancer Through Wnt/β-Catenin Signaling.
show that ARHGAP17 binds to the actin-regulating CIP4 protein in platelets and that Ser-702 phosphorylation interferes with this interaction
Title: Cyclic Nucleotide-dependent Protein Kinases Target ARHGAP17 and ARHGEF6 Complexes in Platelets.
Rich1 negatively regulates the epithelial cell cycle, proliferation and adhesion by CDC42/RAC1-PAK1-Erk1/2 pathway.
Title: Rich1 negatively regulates the epithelial cell cycle, proliferation and adhesion by CDC42/RAC1-PAK1-Erk1/2 pathway.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
We propose that Rich1 and Amot maintain TJ integrity by the coordinate regulation of Cdc42 and by linking specific components of the TJ to intracellular protein trafficking.
Title: A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells.

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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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. 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

D11S2921 (e-PCR)
- UniSTS:152074

STS-W92992 (e-PCR)
- UniSTS:75794

RH70317 (e-PCR)
- UniSTS:11560

D7S2067E (e-PCR)
- UniSTS:151120

RH64964 (e-PCR)
- UniSTS:92899

Clone Names

FLJ37567, FLJ43368, MGC87805, DKFZp564A1363

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor 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 actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in calcium-ion regulated exocytosis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of small GTPase mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Rac protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: rho GTPase-activating protein 17

Names: RhoGAP interacting with CIP4 homologs 1; neuron-associated developmentally regulated protein; rho-type GTPase-activating protein 17

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_001006634.3 → NP_001006635.1 rho GTPase-activating protein 17 isoform 1

See identical proteins and their annotated locations for NP_001006635.1

Status: VALIDATED

Description

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

Source sequence(s)

BC080195, BU187683

Consensus CDS

CCDS32409.1

UniProtKB/Swiss-Prot

A8K6M6, Q68EM7, Q6ZUS4, Q7Z2F2, Q8NDG2, Q96KS2, Q96KS3, Q96SS8, Q9BVF6, Q9H8U5, Q9NW54

UniProtKB/TrEMBL

A0A2X0SF71

Related

ENSP00000289968.6, ENST00000289968.11

Conserved Domains (4) summary

cd07618
Location:13 → 257

BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1

PRK14951
Location:522 → 631

PRK14951; DNA polymerase III subunits gamma and tau; Provisional

cd04386
Location:246 → 446

RhoGAP_nadrin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been implicated in ...

pfam09770
Location:536 → 739

PAT1; Topoisomerase II-associated protein PAT1
NM_018054.6 → NP_060524.4 rho GTPase-activating protein 17 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

BC080195, BU187683

Consensus CDS

CCDS32408.1

UniProtKB/TrEMBL

A0A2X0SF71

Related

ENSP00000303130.5, ENST00000303665.9

Conserved Domains (2) summary

cd07618
Location:13 → 257

BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1

cd04386
Location:246 → 446

RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

24919389..25015369 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434318.1 → XP_047290274.1 rho GTPase-activating protein 17 isoform X12
XM_047434314.1 → XP_047290270.1 rho GTPase-activating protein 17 isoform X7
XM_047434313.1 → XP_047290269.1 rho GTPase-activating protein 17 isoform X6
XM_011545878.4 → XP_011544180.1 rho GTPase-activating protein 17 isoform X9

UniProtKB/TrEMBL

A0A2X0SF71

Conserved Domains (2) summary

cd07618
Location:13 → 289

BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1

cd04386
Location:278 → 478

RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
XM_047434316.1 → XP_047290272.1 rho GTPase-activating protein 17 isoform X10
XM_011545873.4 → XP_011544175.1 rho GTPase-activating protein 17 isoform X1

UniProtKB/TrEMBL

A0A2X0SF71

Conserved Domains (2) summary

cd07618
Location:13 → 289

BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1

cd04386
Location:278 → 478

RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
XM_011545876.3 → XP_011544178.1 rho GTPase-activating protein 17 isoform X5

UniProtKB/TrEMBL

A0A2X0SF71

Conserved Domains (2) summary

cd07618
Location:13 → 289

BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1

cd04386
Location:278 → 478

RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
XM_011545875.3 → XP_011544177.1 rho GTPase-activating protein 17 isoform X3

UniProtKB/TrEMBL

A0A2X0SF71

Conserved Domains (2) summary

cd07618
Location:13 → 289

BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1

cd04386
Location:278 → 478

RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
XM_047434315.1 → XP_047290271.1 rho GTPase-activating protein 17 isoform X8
XM_047434311.1 → XP_047290267.1 rho GTPase-activating protein 17 isoform X2
XM_047434312.1 → XP_047290268.1 rho GTPase-activating protein 17 isoform X4
XM_047434317.1 → XP_047290273.1 rho GTPase-activating protein 17 isoform X11
XM_047434319.1 → XP_047290275.1 rho GTPase-activating protein 17 isoform X13
XM_047434320.1 → XP_047290276.1 rho GTPase-activating protein 17 isoform X14
XM_047434322.1 → XP_047290278.1 rho GTPase-activating protein 17 isoform X16
XM_047434321.1 → XP_047290277.1 rho GTPase-activating protein 17 isoform X15