Arhgap6 Rho GTPase activating protein 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Arhgap6provided by MGI
Official Full Name: Rho GTPase activating protein 6provided by MGI
Primary source: MGI:MGI:1196332
See related: Ensembl:ENSMUSG00000031355 AllianceGenome:MGI:1196332
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: RhoGAPX-1
Summary: Enables GTPase activator activity. Involved in positive regulation of GTPase activity. Acts upstream of or within actin filament organization and focal adhesion assembly. Located in actin cytoskeleton. Is expressed in lower leg bone. Used to study microphthalmia. Orthologous to human ARHGAP6 (Rho GTPase activating protein 6). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 2.0), lung adult (RPKM 1.8) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F5; X 78.77 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (167578091..168087436)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (168795094..169304440)

Chromosome X - NC_000086.8 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice
Title: Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Amel (e-PCR), detects polymorphism
- UniSTS:141072

px-44e9 (e-PCR)
- UniSTS:257819

AI504284 (e-PCR)
- UniSTS:166197

px-50h_7f1 (e-PCR)
- UniSTS:257895

px-56a2 (e-PCR)
- UniSTS:257925

DXMit100 (e-PCR), detects polymorphism
- UniSTS:131989

Results_ER_9_6_95_87.seq (e-PCR)
- UniSTS:125622

px-58h8 (e-PCR)
- UniSTS:257975

px-26d8 (e-PCR)
- UniSTS:257486

px-28h2 (e-PCR)
- UniSTS:257523

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables phospholipase activator activity	ISO Inferred from Sequence Orthology more info
enables phospholipase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in focal adhesion assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within focal adhesion assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of focal adhesion assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: rho GTPase-activating protein 6

Names: rho-type GTPase-activating protein 6; rho-type GTPase-activating protein RhoGAPX-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_001287530.1 → NP_001274459.1 rho GTPase-activating protein 6 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the use of an alternate promoter, differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AL663026, AL805974, AL831750

Consensus CDS

CCDS72472.1

UniProtKB/Swiss-Prot

O54834

Related

ENSMUSP00000107755.2, ENSMUST00000112127.2

Conserved Domains (1) summary

cd04376
Location:212 → 418

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_009707.4 → NP_033837.2 rho GTPase-activating protein 6 isoform a

See identical proteins and their annotated locations for NP_033837.2

Status: VALIDATED

Description

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

Source sequence(s)

AL663056, AL805974, AL831750

Consensus CDS

CCDS30534.1

UniProtKB/Swiss-Prot

A2ABW4, A2AC55, O54834, Q3TMC2, Q8BG83, Q8C842, Q9QZL8

Related

ENSMUSP00000033721.7, ENSMUST00000033721.13

Conserved Domains (1) summary

cd04376
Location:404 → 610

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 defects syndrome (MLS) ...
NM_178754.3 → NP_848869.1 rho GTPase-activating protein 6 isoform b

See identical proteins and their annotated locations for NP_848869.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the use of an alternate promoter, differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AK047827, AK048162, AL831750

Consensus CDS

CCDS41212.1

UniProtKB/Swiss-Prot

O54834

UniProtKB/TrEMBL

Q8C8B2

Related

ENSMUSP00000107759.3, ENSMUST00000112131.9

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 ...

RNA

NR_109847.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents the use of an alternate promoter, contains an alternate 5' terminal exon and contains 2 alternate exons in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK047827, AK048162, AK079651, AL831750

Related

ENSMUST00000139146.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

167578091..168087436

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528694.2 → XP_006528757.1 rho GTPase-activating protein 6 isoform X1

See identical proteins and their annotated locations for XP_006528757.1

UniProtKB/Swiss-Prot

A2ABW4, A2AC55, O54834, Q3TMC2, Q8BG83, Q8C842, Q9QZL8

Conserved Domains (1) summary

cd04376
Location:404 → 610

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 defects syndrome (MLS) ...