1. Gene
  2. ARHGAP11A - Rho GTPase activating protein 11A Gene

ARHGAP11A - Rho GTPase activating protein 11A Gene

Homo sapiens

Also known as GAP (1-12)

Gene ID: 9824 | Gene type: protein coding

About ARHGAP11A

Cytogenetic location: 15q13.3 Genomic coordinates (GRCh38): 15:32,615,144-32,639,941 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 260 orthologues and 1 paralogue. Broad expression in bone marrow (RPKM 5.9), lymph node (RPKM 5.7) and 19 other tissues.

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]

ARHGAP11A Products(4)

mRNA Protein Name
NM_001286479.3 NP_001273408.1 rho GTPase-activating protein 11A isoform 3
NM_001286480.3 NP_001273409.1 rho GTPase-activating protein 11A isoform 3
NM_014783.6 NP_055598.1 rho GTPase-activating protein 11A isoform 1
NM_199357.3 NP_955389.1 rho GTPase-activating protein 11A isoform 2

ARHGAP11A Protein Structure

RhoGAP

RhoGAP: RhoGAP domain (66 - 209)

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  • 800
  • 1023 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 11A

rho-type GTPase-activating protein 11A

Related Diseases

Diseases Alias
Benign Pleural Mesothelioma

Mesothelioma Of Pleura

Benign Neoplasm Of Mesothelial Tissue Of Pleura

Pleural Malignant Mesothelioma

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion

Microdeletion 15q13.3 Syndrome

Del(15)(Q13.3)

Monosomy 15q13.3

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ARHGAP11A VGNC VGNC:84307
Mus musculus ARHGAP11A MGD MGI:2444300
Rattus norvegicus ARHGAP11A RGD RGD:1309107