SNAPIN
entrez
23557
canonical
uniprot
O95295
canonical
ensembl
ENSG00000143553
resolver
ensp
ENSP00000357674
resolver
ensp
ENSP00000582022
resolver
enst
ENST00000368685
resolver
enst
ENST00000911963
resolver
genesymbol
SNAPIN
resolver
genesymbol_syn
BLOC1S7
resolver
genesymbol_syn
SNAP25BP
resolver
genesymbol_syn
SNAPAP
resolver
hgnc
HGNC:17145
resolver
uniprot
D3DV56
resolver
uniprot
Q5SXU8
resolver
uniprot_entry
SNAPN_HUMAN
resolver
uniprot_sec
D3DV56
resolver
uniprot_sec
Q5SXU8
resolver
amino_acid_sequence
MAGAGSAAVSGAGTPVAGPTGRDLFAEGLLEFLRPAVQQLDSHVHAVRESQVELREQIDNLATELCRINEDQKVALDLDPYVKKLLNARRRVVLVNNILQNAQERLRRLNHSVAKETARRRAMLDSGIYPPGSPGK
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities (NEDBAC) [MIM:621393]: An autosomal recessive disorder characterized by impaired intellectual development, ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet. {ECO:0000269|PubMed:40930097}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling. May modulate a step between vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the interaction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis. May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells (PubMed:17182842, PubMed:18167355). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). {ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:25898167}.
uniprot
proteins
mass_dalton
14874
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by CSNK1D/CK1 (By similarity). Phosphorylated by PKD, phosphorylation controls SNAPIN protein stability. {ECO:0000250, ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:21102408}.
uniprot
proteins
protein_family
SNAPIN family
uniprot
proteins
pubmed
10195194
uniprot
proteins
pubmed
12659861
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15102850
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16213214
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17182842
uniprot
proteins
pubmed
18167355
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19168546
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21102408
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21917956
uniprot
proteins
pubmed
22203680
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25898167
uniprot
proteins
pubmed
40930097
uniprot
proteins
sequence_length
136
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9Z266}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9Z266}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9Z266}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9Z266}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:19168546, ECO:0000269|PubMed:21102408}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9Z266}. Lysosome membrane {ECO:0000305|PubMed:25898167}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000305|PubMed:21102408}. Note=Colocalizes with NANOS1 and PUM2 in the perinuclear region of germ cells. {ECO:0000269|PubMed:19168546}.
uniprot
proteins