Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | HIP1 |
Gene Name: | HIP1 |
Protein Full Name: | Huntingtin-interacting protein 1 |
Alias: | Huntingtin-interacting protein I |
Mass (Da): | 116203 |
Number AA: | 1037 |
UniProt ID: | O00291 |
Locus ID: | 3092 |
COSMIC ID: | HIP1 |
Gene location on chromosome: | 7q11.2 |
Cancer protein type: | UNCLEAR |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | UNCLEAR |
Number of cancer specimens: | 20420 |
Percent of cancer specimens with mutations: | 0.75 |
Normal role description: | HIP1 is a memebrane associated protein that co-localizes with huntingtin. HIP1 plays a role in endocytosis and vessicular trafficking. Its role in oncogenesis -- if any -- is unclear. |
Commentary on involvement of protein in cancer: | Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner. Enhances androgen receptor (AR)-mediated transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis. May play a functional role in the cell filament networks. May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors. |