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 |
|---|---|---|---|---|---|
OMIM IDMIM:607007 Ensembl IDEnsembl:ENSG00000143553 HGNC IDHGNC:HGNC:17145 PHARMGKB IDPA162404012 Map Location1q21.3 | |||||
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 |
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-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD409 | Saracatinib | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SNAPIN
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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