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Merck

HAP1

huntingtin-associated protein 1

Synonyms:
HAP2, HIP5, HLP, hHLP1
Species:
Human HAP1 (9001), Mouse Hap1 (15114), Rat Hap1 (29430), dog HAP1 (607751), cow HAP1 (618422), sheep HAP1 (101108406), domestic cat HAP1 (101088631)
UniProtKB ID:
P54257, A8MQB5, O75358, Q59GK4, Q9H4G3, Q9HA98, Q9NY90
Gene ID:
  • Human(9001) Summary: 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. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
  • Mouse(15114) huntingtin-associated protein 1
  • Rat(29430) huntingtin-associated protein 1
  • dog(607751) huntingtin-associated protein 1
  • cow(618422) huntingtin-associated protein 1
  • sheep(101108406) huntingtin-associated protein 1
  • domestic cat(101088631) huntingtin-associated protein 1

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