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

Gene ID: 9824, updated on 1-Jun-2020

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
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

Genomic context

See ARHGAP11A in Genome Data Viewer
Location:
15q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (32615144..32639941)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (32906720..32931868)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2256 Neighboring gene uncharacterized LOC101928042 Neighboring gene 15q13 distal microdeletion recombination region Neighboring gene golgin A8 family member N Neighboring gene RNA, 7SL, cytoplasmic 286, pseudogene Neighboring gene ARHGAP11A-SCG5 readthrough Neighboring gene secretogranin V Neighboring gene SCG5 antisense RNA 1 Neighboring gene uncharacterized LOC105370756

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough ARHGAP11A-SCG5

Readthrough gene: ARHGAP11A-SCG5, Included gene: SCG5

Homology

Clone Names

  • KIAA0013, MGC70740

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 11A
Names
rho-type GTPase-activating protein 11A

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

  1. NG_051557.1 RefSeqGene

    Range
    6772..31209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286479.2NP_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/Swiss-Prot
    Q6P4F7
    Related
    ENSP00000455754.1, ENST00000565905.5
    Conserved Domains (1) summary
    cl02570
    Location:157
    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 ...
  2. NM_001286480.3NP_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/Swiss-Prot
    Q6P4F7
    Related
    ENSP00000440073.1, ENST00000543522.5
    Conserved Domains (1) summary
    cl02570
    Location:157
    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 ...
  3. NM_014783.6NP_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
    Q6P4F7
    Related
    ENSP00000355090.3, ENST00000361627.8
    Conserved Domains (1) summary
    cd04394
    Location:46246
    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 ...
  4. NM_199357.2NP_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, DB226878
    Consensus CDS
    CCDS58349.1
    UniProtKB/Swiss-Prot
    Q6P4F7
    Related
    ENSP00000454575.1, ENST00000567348.5
    Conserved Domains (1) summary
    cd04394
    Location:46246
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    32615144..32639941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p13 PATCHES

    Range
    4667272..4692073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_012132920.1 Reference GRCh38.p13 PATCHES

    Range
    2133504..2158306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    4829724..4854525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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