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Details on Person UniProt:P54257 HAP1

Class:Id	ReferenceGeneProduct:56289
_chainChangeLog	chain:1-671 added on Fri February 6 2015
_displayName	UniProt:P54257 HAP1
_timestamp	2024-11-03 19:46:05
chain	chain:1-671
checksum	10971B807941B4EE
comment	FUNCTION Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17).SUBUNIT Self-associates. Interacts with HTT/huntingtin; enhanced by an expanded polyglutamine repeat within HTT. Interacts with DCTN1; decreased in presence of HTT with expanded polyglutamine repeat. Interacts with KLC2. Interacts with ITPR1 and APP. Interacts with AR; decreased by an expanded polyglutamine repeat within AR. Interacts with YWHAZ. Interacts with BDNF and SORT1; probably forming a complex involved in proBDNF trafficking, degradation and processing. Interacts with TBP, AHI1, HGS and KALRN. Interacts with KIF5A, KIF5B, KIF5C and GABRB3; indicative for an HAP1:KIF5 complex transporting a GABA(A) receptor as cargo. Interacts with ATXN3; in STBs with ATXN3 poly-Gln region with 27 repeats (normal population) and 79 repeats (spinocerebellar ataxia 3 (SCA3) patients) associating in the same strength. Interacts with NTRK2; HAP1 stabilizes association of NTRK2 with SORT1 preventing NTRK2 degradation. Interacts with CFAP263.INTERACTION Localizes to large nonmembrane-bound cytoplasmic bodies found in various types of neurons, called stigmoid bodies (STBs). Localization to neuronal processes and neurite tips is decreased by YWHAZ. In the nucleus localizes to nuclear rods.ALTERNATIVE PRODUCTS Additional isoforms seem to exist.TISSUE SPECIFICITY Predominantly expressed in brain. Selectively expressed in neurons.MISCELLANEOUS Was not found in huntingtin-containing aggregates in huntigton disease (HD) tissue.
description	recommendedName: Huntingtin-associated protein 1 shortName: HAP-1 alternativeName: Neuroan 1
geneName	HAP1 HAP2 HLP1
identifier	P54257
isSequenceChanged	FALSE
keyword	Alternative splicing Autophagy Cell projection Cilium biogenesis/degradation Coiled coil Cytoplasm Cytoplasmic vesicle Cytoskeleton Endoplasmic reticulum Endosome Exocytosis Lysosome Mitochondrion Nucleus Protein transport Proteomics identification Reference proteome Synapse Transport
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	HAP1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8992489] ENSEMBL:ENSG00000173805 HAP1 [Homo sapiens]
secondaryIdentifier	HAP1_HUMAN A8MQB5 O75358 Q59GK4 Q9H4G3 Q9HA98 Q9NY90
sequenceLength	671
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:148304] UniProt:P54257-2 HAP1 [Homo sapiens] [ReferenceIsoform:148305] UniProt:P54257-3 HAP1 [Homo sapiens] [ReferenceIsoform:404383] UniProt:P54257-1 HAP1 [Homo sapiens] [ReferenceIsoform:8969675] UniProt:P54257-4 HAP1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:375981] HAP1 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:P54257 HAP1 (56289)