| Gene Symbol |
HAP1
|
| Entrez Gene |
9001
|
| Alt Symbol |
HAP2, HIP5, HLP, hHLP1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
huntingtin-associated protein 1
|
| Other Description |
HAP-1|huntingtin-associated protein 2|neuroan 1
|
| Swissprots |
Q9H4G3 Q9HA98 A8MQB5 P54257 Q59GK4 Q9NY90 O75358
|
| Accessions |
CAB82785 CAC09418 EAW60757 EAW60758 EAW60759 EAW60760 EAW60761 P54257 AB209105 BAD92342 AF040723 AAC39861 AK022007 BAB13952 BC156728 AAI56729 CB128405 DA203084 DA231862 U38371 AAC50297 NM_001079870 NP_001073339 NM_001079871 NP_001073340 NM_177977 NP_817084 NM_003949
|
| 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 faciltate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma- aminobutyric ac
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:9742138}. Cell projection, axon {ECO:0000269|PubMed:9742138}. Cytoplasm, cytoskeleton {ECO:0000250}. Lysosome {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250}. Mitochondrion {ECO:0000305|PubMed:9742138}. Nucleus {ECO:0000250}. Cytoplasmic vesicle, autophagosome {ECO:0000250}. 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 (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Predominantly expressed in brain. Selectively expressed in neurons.
|
| Top Pathways |
Huntington's disease, GABAergic synapse
|