ARHGAP11A Rho GTPase activating protein 11A [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP11Aprovided by HGNC
Official Full Name: Rho GTPase activating protein 11Aprovided by HGNC
Primary source: HGNC:HGNC:15783
See related: Ensembl:ENSG00000198826 MIM:610589; AllianceGenome:HGNC:15783
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: GAP (1-12)
Summary: This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]
Expression: Broad expression in bone marrow (RPKM 5.9), lymph node (RPKM 5.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (32615144..32639941)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (30411628..30436433)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (32907345..32932142)

Chromosome 15 - NC_000015.10 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?

Protooncogenic Role of ARHGAP11A and ARHGAP11B in Invasive Ductal Carcinoma: Two Promising Breast Cancer Biomarkers.
Title: Protooncogenic Role of ARHGAP11A and ARHGAP11B in Invasive Ductal Carcinoma: Two Promising Breast Cancer Biomarkers.
ARHGAP11A Is a Novel Prognostic and Predictive Biomarker Correlated with Immunosuppressive Microenvironment in Clear Cell Renal Cell Carcinoma.
Title: ARHGAP11A Is a Novel Prognostic and Predictive Biomarker Correlated with Immunosuppressive Microenvironment in Clear Cell Renal Cell Carcinoma.
Subcellular mRNA localization and local translation of Arhgap11a in radial glial progenitors regulates cortical development.
Title: Subcellular mRNA localization and local translation of Arhgap11a in radial glial progenitors regulates cortical development.
MicroRNA-30c-2-3p represses malignant progression of gastric adenocarcinoma cells via targeting ARHGAP11A.
Title: MicroRNA-30c-2-3p represses malignant progression of gastric adenocarcinoma cells via targeting ARHGAP11A.
[Rho GTPase-activating protein 11A (ARHGAP11A) is up-regulated in lung adenocarcinoma and positively associated with poor prognosis].
Title: [Rho GTPase-activating protein 11A (ARHGAP11A) is up-regulated in lung adenocarcinoma and positively associated with poor prognosis].
High ARHGAP11A expression is associated with Basal-like Breast Cancers.
Title: Rho GTPase Transcriptome Analysis Reveals Oncogenic Roles for Rho GTPase-Activating Proteins in Basal-like Breast Cancers.

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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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-35411 (e-PCR)
- UniSTS:56638

RH78987 (e-PCR)
- UniSTS:55103

RH17370 (e-PCR)
- UniSTS:67413

SHGC-37549 (e-PCR)
- UniSTS:6045

STS-N90222 (e-PCR)
- UniSTS:54686

RH25252 (e-PCR)
- UniSTS:90544

Readthrough ARHGAP11A-SCG5

Readthrough gene: ARHGAP11A-SCG5, Included gene: SCG5

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	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rho GTPase-activating protein 11A

Names: rho-type GTPase-activating protein 11A

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_051557.1 RefSeqGene

Range

6772..31209

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286479.3 → NP_001273408.1 rho GTPase-activating protein 11A isoform 3

See identical proteins and their annotated locations for NP_001273408.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform (3).

Source sequence(s)

AC123768, AK316437, D87717

Consensus CDS

CCDS66730.1

UniProtKB/TrEMBL

A0A2X0SFK9

Related

ENSP00000455754.1, ENST00000565905.5

Conserved Domains (1) summary

cl02570
Location:1 → 57

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
NM_001286480.3 → NP_001273409.1 rho GTPase-activating protein 11A isoform 3

See identical proteins and their annotated locations for NP_001273409.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform (3).

Source sequence(s)

AC123768, AK303025, D87717

Consensus CDS

CCDS66730.1

UniProtKB/TrEMBL

A0A2X0SFK9

Related

ENSP00000440073.1, ENST00000543522.5

Conserved Domains (1) summary

cl02570
Location:1 → 57

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
NM_014783.6 → NP_055598.1 rho GTPase-activating protein 11A isoform 1

See identical proteins and their annotated locations for NP_055598.1

Status: REVIEWED

Description

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

Source sequence(s)

AC123768, D87717

Consensus CDS

CCDS10028.1

UniProtKB/Swiss-Prot

B4DZN9, Q6P4F7, Q6PI96, Q9Y3S6

UniProtKB/TrEMBL

A0A2X0SFK9

Related

ENSP00000355090.3, ENST00000361627.8

Conserved Domains (1) summary

cd04394
Location:46 → 246

RhoGAP-ARHGAP11A; RhoGAP-ARHGAP11A: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP11A-like proteins. The mouse homolog of human ArhGAP11A has been detected as a gene exclusively expressed in immature ganglion cells, potentially playing ...
NM_199357.3 → NP_955389.1 rho GTPase-activating protein 11A isoform 2

See identical proteins and their annotated locations for NP_955389.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a coding exon and its 3' terminal exon extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

BC050545, BC063444, D87717

Consensus CDS

CCDS58349.1

UniProtKB/TrEMBL

H3BR51

Related

ENSP00000454575.1, ENST00000567348.5

Conserved Domains (1) summary

cd04394
Location:46 → 246

RhoGAP-ARHGAP11A; RhoGAP-ARHGAP11A: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP11A-like proteins. The mouse homolog of human ArhGAP11A has been detected as a gene exclusively expressed in immature ganglion cells, potentially playing ...