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Protein

SNARE-associated protein Snapin

Gene

SNAPIN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).3 Publications

GO - Molecular functioni

  • SNARE binding Source: MGI

GO - Biological processi

  • anterograde axonal transport Source: UniProtKB
  • anterograde synaptic vesicle transport Source: UniProtKB
  • autophagosome maturation Source: Ensembl
  • cellular protein complex localization Source: Ensembl
  • endosome to lysosome transport Source: MGI
  • intracellular protein transport Source: ProtInc
  • late endosome to lysosome transport Source: Ensembl
  • lysosomal lumen acidification Source: Ensembl
  • lysosome localization Source: UniProtKB
  • melanosome organization Source: UniProtKB
  • negative regulation of neuron projection development Source: Ensembl
  • neuron projection development Source: UniProtKB
  • neurotransmitter secretion Source: ProtInc
  • positive regulation of late endosome to lysosome transport Source: ParkinsonsUK-UCL
  • protein maturation Source: Ensembl
  • regulation of protein binding Source: ParkinsonsUK-UCL
  • retrograde axonal transport Source: Ensembl
  • synaptic vesicle exocytosis Source: MGI
  • synaptic vesicle fusion to presynaptic active zone membrane Source: Ensembl
  • synaptic vesicle maturation Source: Ensembl
  • synaptic vesicle transport Source: UniProtKB
  • terminal button organization Source: Ensembl
  • viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Exocytosis, Host-virus interaction

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143553-MONOMER.
ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.
SIGNORiO95295.

Protein family/group databases

TCDBi1.F.1.1.1. the synaptosomal vesicle fusion pore (svf-pore) family.

Names & Taxonomyi

Protein namesi
Recommended name:
SNARE-associated protein Snapin
Alternative name(s):
Biogenesis of lysosome-related organelles complex 1 subunit 7
Short name:
BLOC-1 subunit 7
Synaptosomal-associated protein 25-binding protein
Short name:
SNAP-associated protein
Gene namesi
Name:SNAPIN
Synonyms:BLOC1S7, SNAP25BP, SNAPAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:17145. SNAPIN.

Subcellular locationi

GO - Cellular componenti

  • axon cytoplasm Source: GOC
  • BLOC-1 complex Source: UniProtKB
  • BORC complex Source: UniProtKB
  • cell junction Source: UniProtKB-KW
  • Golgi apparatus Source: HPA
  • Golgi membrane Source: UniProtKB-SubCell
  • lysosomal membrane Source: UniProtKB-SubCell
  • nucleolus Source: HPA
  • perinuclear region of cytoplasm Source: UniProtKB
  • secretory granule Source: UniProtKB
  • synapse Source: MGI
  • synaptic vesicle Source: UniProtKB
  • synaptic vesicle membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Lysosome, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000143553.
PharmGKBiPA162404012.

Polymorphism and mutation databases

BioMutaiSNAPIN.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000975562 – 136SNARE-associated protein SnapinAdd BLAST135

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei10PhosphoserineCombined sources1
Modified residuei14PhosphothreonineCombined sources1
Modified residuei50Phosphoserine; by PKABy similarity1
Modified residuei126PhosphoserineCombined sources1
Modified residuei129PhosphotyrosineCombined sources1
Modified residuei133PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by CSNK1D/CK1 (By similarity). Phosphorylated by PKD, phosphorylation controls SNAPIN protein stability.By similarity2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO95295.
MaxQBiO95295.
PaxDbiO95295.
PeptideAtlasiO95295.
PRIDEiO95295.

PTM databases

iPTMnetiO95295.
PhosphoSitePlusiO95295.

Expressioni

Tissue specificityi

Expressed in male germ cells of adult testis (at protein level).1 Publication

Developmental stagei

Expressed in germ cells of 22-week prenatal testis.1 Publication

Gene expression databases

BgeeiENSG00000143553.
CleanExiHS_SNAPIN.
GenevisibleiO95295. HS.

Organism-specific databases

HPAiHPA046974.

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos (PubMed:15102850, PubMed:22203680). Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167). Associates with the SNARE complex. Interacts with CSNK1D, SNAP23 and STX4A but not with STX1A, VAMP2 and SYT1. Interacts with SNAP25; the interaction with SNAP25 is increased by its phosphorylation. Interacts with CNTRL, NANOS1, PUM2 and RGS7 (PubMed:12659861, PubMed:16213214, PubMed:19168546). Interacts with TOR1A; the interaction is direct and associates SNAPIN with the CSN complex (PubMed:18167355, PubMed:21102408).8 Publications
(Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL70.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BLOC1S2Q6QNY17EBI-296723,EBI-465872
BLOC1S6Q9UL452EBI-296723,EBI-465781
CEP170P1Q96L144EBI-296723,EBI-743488
DTNBP1Q96EV84EBI-296723,EBI-465804
DYSFO759233EBI-296723,EBI-2799016
LRRK2Q5S0075EBI-296723,EBI-5323863
SLC14A2Q15849-15EBI-296723,EBI-1633392
Slc14a2Q62668-16EBI-296723,EBI-1635608From a different organism.
SPTBP112773EBI-296723,EBI-514908

GO - Molecular functioni

  • SNARE binding Source: MGI

Protein-protein interaction databases

BioGridi117101. 50 interactors.
IntActiO95295. 76 interactors.
MINTiMINT-5002303.
STRINGi9606.ENSP00000357674.

Structurei

3D structure databases

ProteinModelPortaliO95295.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni83 – 136Interaction with TOR1AAdd BLAST54

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili37 – 126Sequence analysisAdd BLAST90

Sequence similaritiesi

Belongs to the SNAPIN family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410J16C. Eukaryota.
ENOG4111JM9. LUCA.
GeneTreeiENSGT00390000008274.
HOGENOMiHOG000253926.
HOVERGENiHBG056744.
InParanoidiO95295.
KOiK20002.
OMAiINEHQKV.
OrthoDBiEOG091G0WH1.
PhylomeDBiO95295.
TreeFamiTF319577.

Family and domain databases

InterProiIPR017246. Snapin.
IPR028119. Snapin/Pallidin/Snn1.
[Graphical view]
PANTHERiPTHR31305. PTHR31305. 1 hit.
PfamiPF14712. Snapin_Pallidin. 1 hit.
[Graphical view]
PIRSFiPIRSF037631. Snapin. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O95295-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAGAGSAAVS GAGTPVAGPT GRDLFAEGLL EFLRPAVQQL DSHVHAVRES
60 70 80 90 100
QVELREQIDN LATELCRINE DQKVALDLDP YVKKLLNARR RVVLVNNILQ
110 120 130
NAQERLRRLN HSVAKETARR RAMLDSGIYP PGSPGK
Length:136
Mass (Da):14,874
Last modified:May 1, 1999 - v1
Checksum:i3EA402AC53C81FFF
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017423112S → C.Corresponds to variant rs1802461dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF086837 mRNA. Translation: AAD11417.1.
AK024555 mRNA. Translation: BAB14927.1.
BT006753 mRNA. Translation: AAP35399.1.
AL592150 Genomic DNA. Translation: CAI18797.1.
CH471121 Genomic DNA. Translation: EAW53288.1.
CH471121 Genomic DNA. Translation: EAW53289.1.
BC000761 mRNA. Translation: AAH00761.1.
BC004494 mRNA. Translation: AAH04494.1.
CCDSiCCDS1049.1.
RefSeqiNP_036569.1. NM_012437.5.
UniGeneiHs.32018.

Genome annotation databases

EnsembliENST00000368685; ENSP00000357674; ENSG00000143553.
GeneIDi23557.
KEGGihsa:23557.
UCSCiuc001fcq.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF086837 mRNA. Translation: AAD11417.1.
AK024555 mRNA. Translation: BAB14927.1.
BT006753 mRNA. Translation: AAP35399.1.
AL592150 Genomic DNA. Translation: CAI18797.1.
CH471121 Genomic DNA. Translation: EAW53288.1.
CH471121 Genomic DNA. Translation: EAW53289.1.
BC000761 mRNA. Translation: AAH00761.1.
BC004494 mRNA. Translation: AAH04494.1.
CCDSiCCDS1049.1.
RefSeqiNP_036569.1. NM_012437.5.
UniGeneiHs.32018.

3D structure databases

ProteinModelPortaliO95295.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117101. 50 interactors.
IntActiO95295. 76 interactors.
MINTiMINT-5002303.
STRINGi9606.ENSP00000357674.

Protein family/group databases

TCDBi1.F.1.1.1. the synaptosomal vesicle fusion pore (svf-pore) family.

PTM databases

iPTMnetiO95295.
PhosphoSitePlusiO95295.

Polymorphism and mutation databases

BioMutaiSNAPIN.

Proteomic databases

EPDiO95295.
MaxQBiO95295.
PaxDbiO95295.
PeptideAtlasiO95295.
PRIDEiO95295.

Protocols and materials databases

DNASUi23557.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368685; ENSP00000357674; ENSG00000143553.
GeneIDi23557.
KEGGihsa:23557.
UCSCiuc001fcq.5. human.

Organism-specific databases

CTDi23557.
GeneCardsiSNAPIN.
HGNCiHGNC:17145. SNAPIN.
HPAiHPA046974.
MIMi607007. gene.
neXtProtiNX_O95295.
OpenTargetsiENSG00000143553.
PharmGKBiPA162404012.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J16C. Eukaryota.
ENOG4111JM9. LUCA.
GeneTreeiENSGT00390000008274.
HOGENOMiHOG000253926.
HOVERGENiHBG056744.
InParanoidiO95295.
KOiK20002.
OMAiINEHQKV.
OrthoDBiEOG091G0WH1.
PhylomeDBiO95295.
TreeFamiTF319577.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143553-MONOMER.
ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.
SIGNORiO95295.

Miscellaneous databases

GeneWikiiSNAPAP.
GenomeRNAii23557.
PROiO95295.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143553.
CleanExiHS_SNAPIN.
GenevisibleiO95295. HS.

Family and domain databases

InterProiIPR017246. Snapin.
IPR028119. Snapin/Pallidin/Snn1.
[Graphical view]
PANTHERiPTHR31305. PTHR31305. 1 hit.
PfamiPF14712. Snapin_Pallidin. 1 hit.
[Graphical view]
PIRSFiPIRSF037631. Snapin. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSNAPN_HUMAN
AccessioniPrimary (citable) accession number: O95295
Secondary accession number(s): D3DV56, Q5SXU8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 1999
Last modified: November 30, 2016
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.