HAP1 Antibody – Rabbit Polyclonal

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]

HAP1: Associates specifically with huntingtin. This binding is enhanced by an expanded polyglutamine repeat. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 17q21.2-q21.3

Cellular Component: synaptic vesicle; cytoskeleton; mitochondrion; endoplasmic reticulum; lysosome; axon; autophagic vacuole; inclusion body; cell junction; nucleus; actin cytoskeleton

Molecular Function: protein binding; brain-derived neurotrophic factor binding

Biological Process: positive regulation of inositol-1,4,5-triphosphate receptor activity; positive regulation of neurogenesis; exocytosis; nerve growth factor receptor signaling pathway; positive regulation of synaptic transmission, GABAergic; hypothalamus cell differentiation; retrograde axon cargo transport; regulation of exocytosis; synaptic transmission; protein localization; protein transport; cell projection organization and biogenesis; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of neurotrophin production; vesicle transport along microtubule; cerebellum development; autophagy; brain development; anterograde axon cargo transport