ARHGAP6 Rho GTPase activating protein 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP6provided by HGNC
Official Full Name: Rho GTPase activating protein 6provided by HGNC
Primary source: HGNC:HGNC:676
See related: Ensembl:ENSG00000047648 MIM:300118; AllianceGenome:HGNC:676
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: RHOGAP6; RHOGAPX-1
Summary: This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in prostate (RPKM 12.6), thyroid (RPKM 10.2) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (11137544..11665920, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (10720022..11248464, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (11155664..11684040, complement)

Chromosome X - NC_000023.11 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 Functions

What's a GeneRIF?

ARHGAP6 Suppresses Breast Cancer Tumor Growth by Promoting Ferroptosis via RhoA-ROCK1-p38 MAPK Signaling.
Title: ARHGAP6 Suppresses Breast Cancer Tumor Growth by Promoting Ferroptosis via RhoA-ROCK1-p38 MAPK Signaling.
RhoGAP6 interacts with COPI to regulate protein transport.
Title: RhoGAP6 interacts with COPI to regulate protein transport.
ARHGAP6 inhibits bladder cancer cell viability, migration, and invasion via beta-catenin signaling and enhances mitomycin C sensitivity.
Title: ARHGAP6 inhibits bladder cancer cell viability, migration, and invasion via β-catenin signaling and enhances mitomycin C sensitivity.
MiR-96-5p is an oncogene in lung adenocarcinoma and facilitates tumor progression through ARHGAP6 downregulation.
Title: MiR-96-5p is an oncogene in lung adenocarcinoma and facilitates tumor progression through ARHGAP6 downregulation.
ARHGAP6 was found to have low expression in tumor tissues from patients with lung cancer, accompanied by high expression of MMP9 and VEGF. In A549 and H1299 cells, upregulation of ARHGAP6 inhibited tumor growth and metastasis and reduced the levels of MMP9, VEGF and pSTAT3, while the levels STAT3 were unchanged.
Title: ARHGAP6 regulates the proliferation, migration and invasion of lung cancer cells.
Failed ARHGAP6 expression did not appreciably alter the severity of enamel defects when AMELX was absent.
Title: Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.
the RhoGAP6 isoform 1 variant might serve as a biomarker for the development and progression of colorectal cancer
Title: Identification of Rho GTPase activating protein 6 isoform 1 variant as a new molecular marker in human colorectal tumors.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Human ARHGAP6 protein possessing GTPase stimulating activity for RhoA on the catalytic properties of PLC-delta1, was studied.
Title: Regulation of phospholipase C-delta1 by ARGHAP6, a GTPase-activating protein for RhoA: possible role for enhanced activity of phospholipase C in hypertension.

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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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-108012 (e-PCR)
- UniSTS:170496

DXS1043 (e-PCR), detects polymorphism
- UniSTS:18199

DXS1129 (e-PCR)
- UniSTS:99615

DXS1135 (e-PCR)
- UniSTS:99621

G62689 (e-PCR)
- UniSTS:139814

DXS1043 (e-PCR), detects polymorphism
- UniSTS:3112

RH123869 (e-PCR)
- UniSTS:136244

DXS7090 (e-PCR)
- UniSTS:72249

GDB:677393 (e-PCR)
- UniSTS:99653

DXS1380 (e-PCR)
- UniSTS:99149

G42692 (e-PCR)
- UniSTS:140879

RH46956 (e-PCR)
- UniSTS:9061

GDB:574117 (e-PCR)
- UniSTS:157803

GDB:574121 (e-PCR)
- UniSTS:157804

AFMa052zc1 (e-PCR)
- UniSTS:40302

GDB:574132 (e-PCR)
- UniSTS:157807

GDB:574144 (e-PCR)
- UniSTS:157810

GDB:574146 (e-PCR)
- UniSTS:157811

AF003642 (e-PCR)
- UniSTS:94581

AF003643 (e-PCR)
- UniSTS:94582

AF003645 (e-PCR)
- UniSTS:94584

AF003646 (e-PCR)
- UniSTS:94585

AF003647 (e-PCR)
- UniSTS:94586

AF003648 (e-PCR)
- UniSTS:94587

D11S1905 (e-PCR)
- UniSTS:149121

AF003655 (e-PCR)
- UniSTS:94594

SHGC-34710 (e-PCR)
- UniSTS:64397

DXS1445 (e-PCR)
- UniSTS:99218

AF003672 (e-PCR)
- UniSTS:94611

ARHGAP6_4363 (e-PCR)
- UniSTS:462745

AF003685 (e-PCR)
- UniSTS:94624

SHGC-80932 (e-PCR)
- UniSTS:102567

RH79902 (e-PCR)
- UniSTS:86189

GDB:371402 (e-PCR)
- UniSTS:156848

DXS7800 (e-PCR)
- UniSTS:43197

SHGC-105133 (e-PCR)
- UniSTS:185030

AMELX (e-PCR)
- UniSTS:277964

DXS7519 (e-PCR)
- UniSTS:22990

RH98500 (e-PCR)
- UniSTS:87016

DXS7928 (e-PCR)
- UniSTS:154345

SHGC-84186 (e-PCR)
- UniSTS:104682

DXS8202 (e-PCR)
- UniSTS:69868

DXF22S5 (e-PCR)
- UniSTS:99055

DXS7543 (e-PCR)
- UniSTS:153844

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	TAS Traceable Author Statement more info
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables phospholipase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	NAS Non-traceable Author Statement more info	PubMed
involved_in focal adhesion assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phospholipase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in actin filament	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rho GTPase-activating protein 6

Names: Rho-type GTPase-activating protein RhoGAPX-1; rho-type GTPase-activating protein 6

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_012494.2 RefSeqGene

Range

4782..533158

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001287242.2 → NP_001274171.1 rho GTPase-activating protein 6 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and CDS, and uses an alternate downstream translation start, compared to variant 1. The resulting protein (isoform 6) has a shorter N-terminus, compared to isoform 11.

Source sequence(s)

AB208792, AC002366, BC035785, BC150635, HY018118

UniProtKB/TrEMBL

A8KAL3

Conserved Domains (1) summary

cd04376
Location:222 → 428

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
NM_006125.3 → NP_006116.2 rho GTPase-activating protein 6 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks the last two exons but has an alternate 3' segment at the 3' end, as compared to variant 1. The encoded isoform 3 has a distinct and shorter C-terminus, as compared to isoform 1.

Source sequence(s)

AB208792, AC004554, AF012272

Consensus CDS

CCDS14142.1

UniProtKB/TrEMBL

Q59HG6

Related

ENSP00000370094.1, ENST00000380718.1

Conserved Domains (2) summary

cd04376
Location:402 → 608

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...

pfam17093
Location:67 → 137

PBP_N; Penicillin-binding protein N-terminus
NM_013423.3 → NP_038267.1 rho GTPase-activating protein 6 isoform 4

See identical proteins and their annotated locations for NP_038267.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate 5' exon and the translation starts with a downstream AUG codon, as compared to variant 1. The encoded isoform 4 has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AC002366, AC003657, AF177663

Consensus CDS

CCDS14141.1

UniProtKB/Swiss-Prot

O43182

Related

ENSP00000302312.6, ENST00000303025.10

Conserved Domains (1) summary

cd04376
Location:199 → 405

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
NM_013427.3 → NP_038286.2 rho GTPase-activating protein 6 isoform 1

See identical proteins and their annotated locations for NP_038286.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC003657, AC004554, AF117067, AF177663

Consensus CDS

CCDS14140.1

UniProtKB/Swiss-Prot

B2RWQ0, O43182, O43437, Q9P1B3, Q9UK81, Q9UK82

UniProtKB/TrEMBL

A8KAL3

Related

ENSP00000338967.4, ENST00000337414.9

Conserved Domains (2) summary

cd04376
Location:402 → 608

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...

pfam17093
Location:67 → 121

PBP_N; Penicillin-binding protein N-terminus

RNA

NR_109776.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB208792, AC004554, AF022212

Related

ENST00000495242.5

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_000023.11 Reference GRCh38.p14 Primary Assembly

Range

11137544..11665920 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

10720022..11248464 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001174.3: Suppressed sequence

Description

NM_001174.3: This RefSeq was permanently suppressed because currently there is insufficient support for the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_013422.2: Suppressed sequence

Description

NM_013422.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.