Huntingtin Associated Protein 1 (HAP1)

HLP; hHLP1; HIP5; Neuroan 1

SPN	O825
HGNC	4812
MGI	1261831
PubMed	21985783
RGD	68327
UniProt	P54257
Wiki	HAP1

HAP1) was found to bind to the mutant huntingtin protein (mHtt) in proportion to the number of glutamines present in the glutamine repeat region.

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 (HGS). The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport.

Reference

"A human HAP1 homologue. Cloning, expression, and interaction with huntingtin."
J. Biol. Chem. 273:19220-19227(1998) [PubMed] [Europe PMC] [Abstract]

"Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism."
Gene 254:181-187(2000) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

"A huntingtin-associated protein enriched in brain with implications for pathology."
Nature 378:398-402(1995) [PubMed] [Europe PMC] [Abstract]

"The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human."
J. Neurosci. 18:7674-7686(1998) [PubMed] [Europe PMC] [Abstract]

"Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued."
J. Biol. Chem. 283:34880-34886(2008) [PubMed] [Europe PMC] [Abstract]

"Huntingtin-associated protein-1 interacts with pro-brain-derived neurotrophic factor and mediates its transport and release."
J. Biol. Chem. 285:5614-5623(2010) [PubMed] [Europe PMC] [Abstract]

"Interaction of ataxin-3 with huntingtin-associated protein 1 through Josephin domain."
NeuroReport 22:232-238(2011) [PubMed] [Europe PMC] [Abstract]

"Huntingtin associated protein 1 regulates trafficking of the amyloid precursor protein and modulates amyloid beta levels in neurons."
J. Neurochem. 122:1010-1022(2012) [PubMed] [Europe PMC] [Abstract]

"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. 288:13676-13694(2013) [PubMed] [Europe PMC] [Abstract]

"Proteomic analysis of mammalian sperm cells identifies new components of the centrosome."
J. Cell Sci. 127:4128-4133(2014) [PubMed] [Europe PMC] [Abstract]

"Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease."
Hum. Mol. Genet. 17:1137-1146(2008) [PubMed] [Europe PMC] [Abstract]