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HIP1

Domain

The pseudo DED region (pDED) mediates the interaction with IFT57.

Binds F-actin via the talin-like I/LWEQ domain.

Function

Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). 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 (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454).

Involvement in disease

A chromosomal aberration involving HIP1 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;7)(q33;q11.2) with PDGFRB (PubMed:9616134). The chimeric HIP1-PDGFRB transcript results from an in-frame fusion of the two genes (PubMed:9616134). The reciprocal PDGFRB-HIP1 transcript is not expressed (PubMed:9616134).

Sequence Similarities

Belongs to the SLA2 family.

Tissue Specificity

Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer.

Cellular localization

Alternative names

Huntingtin-interacting protein 1, HIP-1, Huntingtin-interacting protein I, HIP-I, HIP1

swissprot:O00291 omim:601767 entrezGene:3092