Sequence Detail

ID/Version

O35668 O35636 (UniProt | EBI)

Last sequence update: 1998-01-01
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Huntingtin-associated protein 1; Short=HAP-1;

Provider

SWISS-PROT

Sequence

Polypeptide 628 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Hap1	huntingtin-associated protein 1	99	107	3	13

Sequence references in MGI

J:47245 Bertaux F, et al., HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice. FEBS Lett. 1998 Apr 17;426(2):229-32
J:48702 Nasir J, et al., Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1. Mamm Genome. 1998 Jul;9(7):565-70
J:84682 Li SH, et al., Lack of huntingtin-associated protein-1 causes neuronal death resembling hypothalamic degeneration in Huntington's disease. J Neurosci. 2003 Jul 30;23(17):6956-64
J:101292 Tang TS, et al., HAP1 facilitates effects of mutant huntingtin on inositol 1,4,5-trisphosphate-induced Ca release in primary culture of striatal medium spiny neurons. Eur J Neurosci. 2004 Oct;20(7):1779-87
J:140869 Sheng G, et al., Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J Clin Invest. 2008 Aug;118(8):2785-95
J:178446 Keryer G, et al., Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. J Clin Invest. 2011 Nov 1;121(11):4372-82
J:197136 Weng L, et al., Loss of Ahi1 Affects Early Development by Impairing BM88/Cend1-Mediated Neuronal Differentiation. J Neurosci. 2013 May 8;33(19):8172-8184
J:198594 Tuz K, et al., The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J Biol Chem. 2013 May 10;288(19):13676-94
J:206857 Wong YC, et al., The regulation of autophagosome dynamics by huntingtin and HAP1 is disrupted by expression of mutant huntingtin, leading to defective cargo degradation. J Neurosci. 2014 Jan 22;34(4):1293-305
J:208015 Xiang J, et al., Huntingtin-associated protein 1 regulates postnatal neurogenesis and neurotrophin receptor sorting. J Clin Invest. 2014 Jan 2;124(1):85-98
J:213185 Mackenzie KD, et al., Huntingtin-associated protein 1 regulates exocytosis, vesicle docking, readily releasable pool size and fusion pore stability in mouse chromaffin cells. J Physiol. 2014 Apr 1;592(Pt 7):1505-18