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Protein: HIP1_MOUSE

Huntingtin-interacting protein 1

FUNCTION: 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. more...

SUBUNIT: Homodimer. Binds actin. Binds HTT (via N-terminus). This interaction is restricted to the brain. Binds to IFT57. In normal conditions, it poorly interacts with IFT57, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57. Interacts with CLTB (via N-terminus). Interacts (via coiled coil domain) with AR. Interacts with AP2A1, AP2A2, CLTC and HIP1R (By similarity). Interacts with GRIA1, GRIN2A AND GRIN2B.

SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). Endomembrane system (By similarity). Cytoplasmic vesicle, clathrin-coated vesicle membrane (By similarity). Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR (By similarity).

TISSUE SPECIFICITY: Most abundantly expressed in brain. In brain, expressed in cortical tissue, hippocampus, the molecular layer of the cerebellum and olfactory bulb. Also expressed in spinal cord and bone marrow (at protein level). Expressed in reproductive tissues.

DOMAIN: The pseudo DED region (pDED) mediates the interaction with IFT57 (By similarity).

DOMAIN: Binds F-actin via the talin-like I/LWEQ domain (By similarity). DISRUPTION PHENOTYPE: Mice develop a neurological phenotype by 3 months of age, characterized by wasting, tremor and a gait ataxia secondary to a rigid thoracolumbar kyphosis. They also display micro-ophthalmia with nuclear cataracts. Mutant male mice are mostly infertile and exhibit testicular degeneration with increased apoptosis of postmeiotic spermatids. In comparison, Hip1-Hip1r double-knockout mice are dwarfed, afflicted with severe vertebral defects and die in early adulthood.

SIMILARITY: Belongs to the SLA2 family.

SIMILARITY: Contains 1 ENTH (epsin N-terminal homology) domain.

SIMILARITY: Contains 1 I/LWEQ domain.

SEQUENCE CAUTION: Sequence=AAH17516.1; Type=Erroneous initiation;

GENE SYNONYMS: Kiaa4113.

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

No pathway or interaction information available for this record.

 

Organism:

  • Mus musculus

Gene Symbol:

  • Hip1

Synonyms:

  • Huntingtin-interacting protein I
  • HIP-I
  • HIP-1

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