HAP1
entrez
9001
canonical
uniprot
P54257
canonical
ensembl
ENSG00000173805
resolver
ensp
ENSP00000334002
resolver
ensp
ENSP00000343170
resolver
ensp
ENSP00000377513
resolver
genesymbol
HAP1
resolver
genesymbol_syn
HAP2
resolver
genesymbol_syn
HLP1
resolver
hgnc
HGNC:4812
resolver
uniprot
A8MQB5
resolver
uniprot
O75358
resolver
uniprot
Q59GK4
resolver
uniprot
Q9H4G3
resolver
uniprot
Q9HA98
resolver
uniprot
Q9NY90
resolver
uniprot_entry
HAP1_HUMAN
resolver
uniprot_sec
A8MQB5
resolver
uniprot_sec
O75358
resolver
uniprot_sec
Q59GK4
resolver
uniprot_sec
Q9H4G3
resolver
uniprot_sec
Q9HA98
resolver
uniprot_sec
Q9NY90
resolver
amino_acid_sequence
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR
uniprot
proteins
function
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). {ECO:0000269|PubMed:18922795}.
uniprot
proteins
mass_dalton
75506
uniprot
proteins
pubmed
10974549
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18192679
uniprot
proteins
pubmed
18922795
uniprot
proteins
pubmed
19996106
uniprot
proteins
pubmed
21386698
uniprot
proteins
pubmed
22731248
uniprot
proteins
pubmed
23532844
uniprot
proteins
pubmed
25074808
uniprot
proteins
pubmed
7477378
uniprot
proteins
pubmed
9668110
uniprot
proteins
pubmed
9742138
uniprot
proteins
sequence_length
671
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9742138}. Cell projection, axon {ECO:0000269|PubMed:9742138}. Presynapse {ECO:0000250|UniProtKB:P54256}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P54256}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P54256}. Cell projection, dendrite {ECO:0000250|UniProtKB:P54256}. Lysosome {ECO:0000250|UniProtKB:P54256}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P54256}. Mitochondrion {ECO:0000305|PubMed:9742138}. Nucleus {ECO:0000250|UniProtKB:P54256}. Cytoplasmic vesicle, autophagosome {ECO:0000250|UniProtKB:O35668}. Early endosome {ECO:0000250|UniProtKB:P54256}. Cell projection, growth cone {ECO:0000250|UniProtKB:P54256}. Cell projection, neuron projection {ECO:0000250|UniProtKB:P54256}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250|UniProtKB:P54256}. Note=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. {ECO:0000250|UniProtKB:P54256}.
uniprot
proteins