Aliases for HIP1 Gene
External Ids for HIP1 Gene
Previous GeneCards Identifiers for HIP1 Gene
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for HIP1 Gene
HIP1 (Huntingtin Interacting Protein 1) is a Protein Coding gene. Diseases associated with HIP1 include huntington disease and chronic myelomonocytic leukemia. Among its related pathways are EGFR1 Signaling Pathway and Normal wtCFTR traffic / ER-to-Golgi. GO annotations related to this gene include binding and structural constituent of cytoskeleton. An important paralog of this gene is TLN1.
UniProtKB/Swiss-Prot for HIP1 Gene
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.