HAP1 (huntingtin-associated protein 1)

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Keyword

Gene: HAP1 (huntingtin-associated protein 1) Homo sapiens

Symbol:

HAP1

Name:

huntingtin-associated protein 1

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

HAP-1; HAP2; hHLP1; HIP5; HLP; huntingtin-associated protein 1; huntingtin-associated protein 2; neuroan 1; OTTHUMP00000164746; OTTHUMP00000164747; OTTHUMP00000232821; OTTHUMP00000232822

Orthologs:

Mus musculus : Hap1 (huntingtin-associated protein 1) MGI
Rattus norvegicus : Hap1 (huntingtin-associated protein 1)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	17	40,667,634 - 40,679,719	-	NCBI
Human Genome Assembly HuRef	17	35,641,052 - 35,653,084	-	NCBI
Human Genome Assembly GRCh37	17	39,878,891 - 39,890,898	-	NCBI
Human Genome Assembly Build 36	17	37,132,417 - 37,144,424	-	NCBI
Human Cytogenetic Map	17	q21.2-q21.3		NCBI
Human Genome Assembly	17	37,132,417 - 37,144,422		NCBI