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

    Gene ID: 9824, updated on 10-Dec-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ARHGAP11A in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (32615144..32639941)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (30411628..30436433)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (32907345..32932142)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2256 Neighboring gene ARHGAP11A divergent transcript Neighboring gene 15q13 distal microdeletion recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32892481-32893030 Neighboring gene golgin A8 family member N Neighboring gene RNA, 7SL, cytoplasmic 286, pseudogene Neighboring gene ARHGAP11A-SCG5 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:32933404-32934044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:32934045-32934683 Neighboring gene secretogranin V Neighboring gene uncharacterized LOC124903458 Neighboring gene NANOG hESC enhancer GRCh37_chr15:32962383-32962915 Neighboring gene SCG5 antisense RNA 1 Neighboring gene uncharacterized LOC105370756

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough ARHGAP11A-SCG5

    Readthrough gene: ARHGAP11A-SCG5, Included gene: SCG5

    Clone Names

    • KIAA0013, MGC70740

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001286479.3NP_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: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/TrEMBL
      A0A2X0SFK9
      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
      B4DZN9, Q6P4F7, Q6PI96, Q9Y3S6
      UniProtKB/TrEMBL
      A0A2X0SFK9
      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_199357.3NP_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: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: 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

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_012132920.1 Reference GRCh38.p14 PATCHES

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

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      30411628..30436433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)