Huntingtin-associated protein 1

huntingtin-associated protein 1 (neuroan 1)
Identifiers
SymbolHAP1
Alt. symbolsHAP2
NCBI gene9001
HGNC4812
OMIM600947
RefSeqNM_003949
UniProtP54257
Other data
LocusChr. 17 q21.2-21.3
Search for
StructuresSwiss-model
DomainsInterPro

Huntingtin-associated protein 1 (HAP1) is a protein which in humans is encoded by the HAP1 gene.[1][2] This protein was found to bind to the mutant huntingtin protein (mHtt) in proportion to the number of glutamines present in the glutamine repeat region.

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate (HGS). The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport.[3]

  1. ^ Li XJ, Li SH, Sharp AH, Nucifora FC, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA (November 1995). "A huntingtin-associated protein enriched in brain with implications for pathology". Nature. 378 (6555): 398–402. Bibcode:1995Natur.378..398L. doi:10.1038/378398a0. PMID 7477378. S2CID 4339298.
  2. ^ Li SH, Hosseini SH, Gutekunst CA, Hersch SM, Ferrante RJ, Li XJ (July 1998). "A human HAP1 homologue. Cloning, expression, and interaction with huntingtin". J. Biol. Chem. 273 (30): 19220–7. doi:10.1074/jbc.273.30.19220. PMID 9668110.
  3. ^ "Entrez Gene: HAP1 huntingtin-associated protein 1".