SNAPIN
Summary: The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SNAP associated protein | MIM:607007 | Ensembl:ENSG00000143553 | HGNC:HGNC:17145 | PA162404012 | 1q21.3 |
GO terms in SNAPIN
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006886 | intracellular protein transport |
| BP | IEA | GO:0007042 | lysosomal lumen acidification |
| BP | TAS | GO:0007269 | neurotransmitter secretion |
| BP | ISS | GO:0008089 | anterograde axonal transport |
| BP | IEA | GO:0008090 | retrograde axonal transport |
| BP | IGI | GO:0008333 | endosome to lysosome transport |
| BP | IEA | GO:0010977 | negative regulation of neuron projection development |
| BP | IEA | GO:0016032 | viral process |
| BP | IDA | GO:0016079 | synaptic vesicle exocytosis |
| BP | IEA | GO:0016188 | synaptic vesicle maturation |
| BP | ISS | GO:0031175 | neuron projection development |
| BP | IEA | GO:0031629 | synaptic vesicle fusion to presynaptic active zone membrane |
| BP | IMP | GO:0032418 | lysosome localization |
| BP | NAS | GO:0032438 | melanosome organization |
| BP | IEA | GO:0034629 | cellular protein-containing complex localization |
| BP | IMP | GO:0043393 | regulation of protein binding |
| BP | IMP | GO:0048489 | synaptic vesicle transport |
| BP | ISS | GO:0048490 | anterograde synaptic vesicle transport |
| BP | IEA | GO:0051604 | protein maturation |
| BP | IEA | GO:0072553 | terminal button organization |
| BP | IEA | GO:0097352 | autophagosome maturation |
| BP | IEA | GO:1902774 | late endosome to lysosome transport |
| BP | TAS | GO:1902824 | positive regulation of late endosome to lysosome transport |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IEA | GO:0005765 | lysosomal membrane |
| CC | IDA | GO:0008021 | synaptic vesicle |
| CC | IEA | GO:0030054 | cell junction |
| CC | ISS | GO:0030141 | secretory granule |
| CC | IEA | GO:0030672 | synaptic vesicle membrane |
| CC | IDA | GO:0031083 | BLOC-1 complex |
| CC | IDA | GO:0045202 | synapse |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | IDA | GO:0099078 | BORC complex |
| CC | IEA | GO:1904115 | axon cytoplasm |
| MF | IDA | GO:0000149 | SNARE binding |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: SNAPIN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SNAPIN
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-199992 | trans-Golgi Network Vesicle Budding |
| reactome | R-HSA-421837 | Clathrin derived vesicle budding |
| reactome | R-HSA-432722 | Golgi Associated Vesicle Biogenesis |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SNAPIN
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