HAP1, Official Symbol HAP1provided by HGNC Official Full Name huntingtin associated protein 1provided by HGNC Primary source HGNC:HGNC:4812 See related Ensembl:ENSG00000173805 MIM:600947; AllianceGenome:HGNC:4812 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HLP; HAP2; HIP5; hHLP1 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] Expression Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues See more Orthologs mouse all