HCLS1 binding protein 3 also known as HS1BP3 is a protein which in humans is encoded by the HS1BP3 gene.[1][2]
| HCLS1 binding protein 3 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | HS1BP3 | ||||||
| NCBI gene | 64342 | ||||||
| HGNC | 24979 | ||||||
| OMIM | 609359 | ||||||
| RefSeq | NM_022460 | ||||||
| UniProt | Q53T59 | ||||||
| Other data | |||||||
| Locus | Chr. 2 p24.1 | ||||||
| |||||||
Function
editThe protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1-interacting protein that may be involved in lymphocyte activation.[3]
HS1BP3 binds members of the 14-3-3 protein family, which are highly expressed in motor neurons and Purkinje cells and regulate the Ca2+ / calmodulin-dependent protein kinase activation of tyrosine and tryptophan hydroxylase.[2]
References
edit- ^ Takemoto Y, Furuta M, Sato M, Kubo M, Hashimoto Y (December 1999). "Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3". Int. Immunol. 11 (12): 1957–64. doi:10.1093/intimm/11.12.1957. PMID 10590261.
- ^ a b Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Tan EK, Rooney JP (February 2005). "A variant in the HS1-BP3 gene is associated with familial essential tremor". Neurology. 64 (3): 417–21. doi:10.1212/01.WNL.0000153481.30222.38. PMC 1201396. PMID 15699368.
- ^ "Entrez Gene: HCLS1 binding protein 3".
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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