Gene: [00.0/HAP1] huntingtin-associated protein 1;
FUN | HAP1 binds to huntingtin (GEM:04p163/HD) in a glutamine-repeat length-dependent manner and reacts with cytoskeleton proteins, namely the p150(Glued) subunit of dynactin (GEM:02p13/DCTN1) and the pericentriolar protein PCM1 (GEM:08p2/PCM1). Various observations suggested that HAP1 may function as an adaptor protein using coiled coils to mediate interactions among cytoskeletal, vascular, and motor proteins. Thus, HAP1 and huntingtin may play a role in vesicle trafficking within the cell, and disruption of this function could contribute to the neuronal dysfunction and death seen in Huntington disease (Engelender-1997)." |
REF | EXP,MEB,FUN
"Engelender S &: Hum Mol Genet, 6, 2205-2217, 1997 CLO,SEQ "Li X-J &: Nature, 378, 398-402, 1995 |
SWI | SWISSPROT: P54255 |
KEY | neu, cysk |
CLA | coding, basic |
LOC | RS |
MIM | MIM: 600947 |
Смотрите также:
