Hap1
entrez
29430
canonical
uniprot
P54256
canonical
ensembl
ENSRNOG00000014819
resolver
ensp
ENSRNOP00000020603
resolver
ensp
ENSRNOP00000072494
resolver
enst
ENSRNOT00000020603
resolver
enst
ENSRNOT00000090702
resolver
genesymbol
Hap1
resolver
uniprot
A0A0G2K342
resolver
uniprot
F1LQG0
resolver
uniprot_entry
A0A0G2K342_RAT
resolver
uniprot_entry
F1LQG0_RAT
resolver
uniprot_entry
HAP1_RAT
resolver
amino_acid_sequence
MRPKDQVQSSAGDGTGSGDPATGTPTTQPAADPAPEPSAEPKPAPAQGTGSGQKSGSRTKTGGSFCRSRIRGDSDAPWTRYIFQGPYGPRATGLGTGRAEGIWKTPAAYIGRRPGVSGPERAAFIRELQEALCPNPLPRKKITEDDIKVMLYLLEEKERDLNTAARIGQSLVKQNSVLMEENNKLETMLGSAREEILHLRKQVNLRDDLLQLYSDSDDDEEDEEDEEEEEGEEEEREGQRDQDQQHDHPYGAPKPPPKAETLHHCPQLEALKQKLKLLEEENDHLREEASHLDNLEDKEQMLILECVEQFSEASQQMAELSEVLVLRLEGYERQQKEITQLQAEITKLQQRCQSYGAQTEKLQQQLASEKGVHPESLRAGSHMQDYGSRPRERQEDGKSHRQRSSMPAGSVTHYGYSVPLDALPSFPETLAEELRTSLRKFITDPAYFMERCDTRCREERKKEQGTMPPPPVQDLKPPEDFEAPEELVPEEELGAIEEVGTAEDGPAEETEQASEETEAWEEVEPEVDEATRMNVVVSALEASGLGPSHLDMKYVLQQLSNWQDAHSKRQQKQKVVPKDSPAPQQQTNMGGGIVEQQPIVPTQDSQRLEEDRATHSPSAREEEGPSGAT
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. Isoform A but not isoform B 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. {ECO:0000269|PubMed:10924259, ECO:0000269|PubMed:12021262, ECO:0000269|PubMed:12873381, ECO:0000269|PubMed:12890790, ECO:0000269|PubMed:15242649, ECO:0000269|PubMed:16339760, ECO:0000269|PubMed:16738245, ECO:0000269|PubMed:17166838, ECO:0000269|PubMed:19996106, ECO:0000269|PubMed:20152113, ECO:0000269|PubMed:21357693, ECO:0000269|PubMed:22731248, ECO:0000269|PubMed:23532844}.
uniprot
proteins
mass_dalton
70213
uniprot
proteins
post_translational_modification
PTM: Isoform A is phosphorylated on Thr-598. {ECO:0000269|PubMed:16738245}.
uniprot
proteins
pubmed
10924259
uniprot
proteins
pubmed
12021262
uniprot
proteins
pubmed
12873381
uniprot
proteins
pubmed
12890790
uniprot
proteins
pubmed
15242649
uniprot
proteins
pubmed
16339760
uniprot
proteins
pubmed
16738245
uniprot
proteins
pubmed
16782802
uniprot
proteins
pubmed
17166838
uniprot
proteins
pubmed
19996106
uniprot
proteins
pubmed
20152113
uniprot
proteins
pubmed
21357693
uniprot
proteins
pubmed
22673903
uniprot
proteins
pubmed
22731248
uniprot
proteins
pubmed
23532844
uniprot
proteins
pubmed
7477378
uniprot
proteins
pubmed
9285789
uniprot
proteins
pubmed
9361024
uniprot
proteins
pubmed
9454836
uniprot
proteins
pubmed
9742138
uniprot
proteins
pubmed
9798945
uniprot
proteins
sequence_length
629
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9742138, ECO:0000269|PubMed:9798945}. Presynapse {ECO:0000269|PubMed:9742138}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9454836, ECO:0000269|PubMed:9742138}. Cell projection, dendritic spine {ECO:0000269|PubMed:9742138}. Cell projection, dendrite {ECO:0000269|PubMed:9742138}. Cell projection, axon {ECO:0000269|PubMed:9742138}. Lysosome. Endoplasmic reticulum {ECO:0000269|PubMed:9742138}. Mitochondrion {ECO:0000269|PubMed:9742138}. Nucleus {ECO:0000269|PubMed:9742138}. Cytoplasmic vesicle, autophagosome {ECO:0000250|UniProtKB:O35668}. Early endosome {ECO:0000269|PubMed:12021262}. Cell projection, growth cone {ECO:0000269|PubMed:16339760}. Note=Localizes to large nonmembrane-bound cytoplasmic bodies found in various types of neurons, called stigmoid bodies (STBs); STB formation is regulated by the ratio of isoform A to isoform B (PubMed:9798945). In the nucleus localizes to nuclear rods. {ECO:0000269|PubMed:9798945}.; SUBCELLULAR LOCATION: [Isoform B]: Cytoplasm {ECO:0000269|PubMed:10924259}. Note=In NGF-stimulated PC2 cells isoform A can move anterogradely fom neurite cell body to neurite terminal and is localized to growth cone tips whereas isoform B stays in the cell body. {ECO:0000269|PubMed:10924259}.; SUBCELLULAR LOCATION: [Isoform A]: Cell projection, growth cone {ECO:0000269|PubMed:10924259}. Cell projection, neuron projection {ECO:0000269|PubMed:10924259, ECO:0000269|PubMed:17166838}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000269|PubMed:10924259}. Presynapse {ECO:0000269|PubMed:10924259}. Note=In NGF-stimulated PC2 cells isoform A can move anterogradely fom neurite cell body to neurite terminal and is localized to growth cone tips whereas isoform B stays in the cell body (PubMed:10924259). Localization to neuronal processes and neurite tips is decreased by YWHAZ (PubMed:17166838). {ECO:0000269|PubMed:10924259, ECO:0000269|PubMed:17166838}.
uniprot
proteins