DISEASES

Disease-gene associations mined from literature

Literature associating HIP1 and Huntington's disease

HIP1 [ENSP00000336747]

Huntingtin interacting protein 1; 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 (By similarity). Regulates presynaptic nerve terminal activity (By similarity). 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; Belongs to the SLA2 family.

Synonyms:  HIP1,  HIP1p,  hHIP1,  B4DK46,  B4DYD7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM