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

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Summary

Official Symbol: ARHGAP6provided by HGNC
Official Full Name: Rho GTPase activating protein 6provided by HGNC
Primary source: HGNC:676
See related: Ensembl:ENSG00000047648; HPRD:02124; MIM:300118; Vega:OTTHUMG00000021134
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]

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Genomic context

Location :: Xp22.3

Sequence :: Chromosome: X; NC_000023.10 (11155663..11683821, complement)

See ARHGAP6 in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
GTPase activator activity	IEA Inferred from Electronic Annotation more info
Rho GTPase activator activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
SH3 domain binding	IEA Inferred from Electronic Annotation more info
SH3/SH2 adaptor activity	TAS Traceable Author Statement more info	PubMed
phospholipase activator activity	IDA Inferred from Direct Assay more info	PubMed
phospholipase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Rho protein signal transduction	NAS Non-traceable Author Statement more info	PubMed
actin filament organization	IEA Inferred from Electronic Annotation more info
actin filament polymerization	NAS Non-traceable Author Statement more info	PubMed
activation of phospholipase C activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of Rho GTPase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of phospholipase activity	IDA Inferred from Direct Assay more info	PubMed
regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
signal transduction	IEA Inferred from Electronic Annotation more info
small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info	PubMed
actin filament	NAS Non-traceable Author Statement more info	PubMed
cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
cytosol	TAS Traceable Author Statement more info
intracellular	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: rho GTPase-activating protein 6

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

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NCBI Reference Sequences (RefSeq)

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_012494.1 RefSeqGene

Range

5001..533159

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006125.2 → 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/Swiss-Prot

O43182

UniProtKB/TrEMBL

Q59HG6

Related

ENSP00000370094, OTTHUMP00000022915, ENST00000380718, OTTHUMT00000055762

Conserved Domains (2) summary

cd04376
Location:402 – 608
Blast Score: 868

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 ...

smart00324
Location:408 – 598
Blast Score: 437

RhoGAP; GTPase-activator protein for Rho-like GTPases
NM_013423.2 → NP_038267.1 rho GTPase-activating protein 6 isoform 4

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)

AC003657, AF177663

Consensus CDS

CCDS14141.1

UniProtKB/Swiss-Prot

O43182

Related

ENSP00000302312, OTTHUMP00000022916, ENST00000303025, OTTHUMT00000055763

Conserved Domains (2) summary

cd04376
Location:199 – 405
Blast Score: 860

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 ...

smart00324
Location:205 – 395
Blast Score: 445

RhoGAP; GTPase-activator protein for Rho-like GTPases
NM_013427.2 → NP_038286.2 rho GTPase-activating protein 6 isoform 1

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

O43182

Related

ENSP00000338967, OTTHUMP00000022913, ENST00000337414, OTTHUMT00000055760

Conserved Domains (2) summary

cd04376
Location:402 – 608
Blast Score: 874

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 ...

smart00324
Location:408 – 598
Blast Score: 451

RhoGAP; GTPase-activator protein for Rho-like GTPases

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p5 Primary Assembly

Range

11155663..11683821, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

8936119..9462624, complement

Download

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.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC002366.1 (147..259201)	None
genomic	AC003657.1 (51434..65715)	None
genomic	AC004467.1	None
genomic	AC004554.1 (2005..31454)	None
genomic	AC130886.3 (2004..79336)	None
genomic	AC130890.4	None
genomic	CH471074.1	EAW98786.1
		EAW98787.1
		EAW98788.1
		EAW98789.1
		EAW98790.1
		EAW98791.1
mRNA	AB208792.1	BAD92029.1
mRNA	AF012272.2	AAC98539.2
mRNA	AF022212.2	AAC98540.2
mRNA	AF117067.1	AAF43261.1
mRNA	AF177663.1	AAD53166.1
mRNA	AF177665.1	AAD55087.1
mRNA	AK293078.1	BAF85767.1
mRNA	AK297713.1	BAG60069.1
mRNA	AK297747.1	BAG60097.1
mRNA	AK303444.1	BAH13963.1
mRNA	BC035785.1	None
mRNA	BC150635.1	AAI50636.1