DISEASES

Disease-gene associations mined from literature

Literature on HIP1

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 . ECO:0000269|PubMed:11532990, ECO:0000269|PubMed:11577110, ECO:0000269|PubMed:11889126, ECO:0000269|PubMed:12163454, ECO:0000269|PubMed:14732715, ECO:0000269|PubMed:16027218,; Belongs to the SLA2 family.

Synonyms:  HIP1,  HIP1p,  hHIP1,  C9JMG5,  O00291 ...

Linkouts:  STRING  Pharos  UniProt  OMIM