Full name: huntingtin-associated protein 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HAP-1

Summary: The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

Expression: Biased expression in CNS E18 (RPKM 65.1), whole brain E14.5 (RPKM 47.4) and 11 other tissues

Gene size: 9656bp

Exon count: 14