|Other Names||Huntingtin-interacting protein 1, HIP-1, Huntingtin-interacting protein I, HIP-I, HIP1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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).|
|Cellular Location||Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR|
|Tissue Location||Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer|
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The product of this gene is a membrane-associated proteinthat colocalizes with huntingtin. This protein has similarities tocytoskeleton proteins and its interaction with huntingtin isthought to play a functional role in the cell filament network.Loss of normal huntingtin-HIP1 interaction in Huntington diseasemay contribute to a defect in membrane-cytoskeletal integrity inthe brain. This gene could help in the understanding of the normalfunction of huntingtin and also the pathogenesis of Huntingtondisease. It also has been implicated in the pathogenesis ofhematopoietic malignancies. An alternative splice variant of thisgene has been described but its full length sequence has not beendetermined.
Wilbur, J.D., et al. Acta Crystallogr. D Biol. Crystallogr. 66 (PT 3), 314-318 (2010) :Han, J.W., et al. Nat. Genet. 41(11):1234-1237(2009)Gottfried, I., et al. Cell. Mol. Life Sci. 66(17):2897-2911(2009)Wilbur, J.D., et al. J. Biol. Chem. 283(47):32870-32879(2008)Niu, Q., et al. J. Mol. Biol. 375(5):1197-1205(2008)
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