Tbio SNAPIN SNARE-associated protein Snapin

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• O95295
• D3DV56
• Q5SXU8

Gene Name

• SNAPIN

Ensembl ID

• ENST00000368685
• ENSP00000357674
• ENSG00000143553

Symbol

• BLOC1S7
• SNAP25BP
• SNAPAP
• BLOS7
• BORCS3
• SNAPAP
• BLOC1S7

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.93
drug perturbation	0.87
interacting protein	0.86
cellular component	0.84
disease perturbation	0.83

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 55.19   (req: < 5)

Gene RIFs: 18   (req: <= 3)

Antibodies: 115   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 55.19   (req: >= 5)

Gene RIFs: 18   (req: > 3)

Antibodies: 115   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 25

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (128)

Explore Interacting Targets

1 – 10 of 128

• See Interactions on String-DB

DTNBP1

Tbio

Novelty:  0.00341619

p_int:  0.999997757

p_ni:  0.000002243

Score:  0.994

Data Source:  BioPlex,STRINGDB

BORCS7

Tbio

Novelty:  0.14135922

p_int:  0.999995481

p_ni:  0.000004518

Score:  0.956

Data Source:  BioPlex,STRINGDB

CEP170

Tbio

Novelty:  0.05342931

p_int:  0.999977011

p_ni:  0.00002298

p_wrong:  8e-9

Data Source:  BioPlex

TRIM69

Tbio

Family:  Enzyme

Novelty:  0.18807436

p_int:  0.999973496

p_ni:  0.000026504

Score:  0.542

Data Source:  BioPlex,STRINGDB

BORCS6

Tdark

Novelty:  0.83789033

p_int:  0.999961964

p_ni:  0.000036525

p_wrong:  0.000001511

Score:  0.952

Data Source:  BioPlex,STRINGDB

BCAS4

Tbio

Novelty:  0.11759439

p_int:  0.999955816

p_ni:  0.000044184

Score:  0.794

Data Source:  BioPlex,STRINGDB

BLOC1S6

Tbio

Novelty:  0.01845286

p_int:  0.999844505

p_ni:  0.000155474

p_wrong:  2.1e-8

Score:  0.99

Data Source:  BioPlex,STRINGDB

ENTHD1

Tdark

Novelty:  5.29427978

p_int:  0.997814232

p_ni:  0.001826658

p_wrong:  0.000359109

Data Source:  BioPlex

EXOC1

Tbio

Novelty:  0.01073858

p_int:  0.997449308

p_ni:  0.002550674

p_wrong:  1.8e-8

Score:  0.248

Data Source:  BioPlex,STRINGDB

LAMTOR1

Tbio

Novelty:  0.04952213

p_int:  0.996371667

p_ni:  0.003628163

p_wrong:  1.7e-7

Score:  0.302

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (4)

Reactome (4)

Golgi Associated Vesicle Biogenesis (R-HSA-432722)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Golgi Associated Vesicle Biogenesis	56 targets	R-HSA-432722
Reactome	Membrane Trafficking	612 targets	R-HSA-199991
Reactome	Vesicle-mediated transport	725 targets	R-HSA-5653656
Reactome	trans-Golgi Network Vesicle Budding	72 targets	R-HSA-199992

Name	Explore in Pharos	Explore in Source
Golgi Associated Vesicle Biogenesis	56 targets	R-HSA-432722
Membrane Trafficking	612 targets	R-HSA-199991
Vesicle-mediated transport	725 targets	R-HSA-5653656
trans-Golgi Network Vesicle Budding	72 targets	R-HSA-199992

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (36)

Functions (1)

Components (11)

Processes (24)

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GO Term	Evidence	Assigned by
SNARE binding	Inferred from Direct Assay (IDA)	MGI

Disease Associations ()

No disease associations found

GWAS Traits (2)

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1 – 2 of 2

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet crit	EFO_0007985	1	1	1		24.4
monocyte count	EFO_0005091	1	1	1		9

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 2 of 2

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet crit	EFO_0007985	1		24.4
monocyte count	EFO_0005091	1		9

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Acetylation
Cell junction
Coiled coil
Complete proteome
Cytoplasm
Cytoplasmic vesicle
Exocytosis
Golgi apparatus
Host-virus interaction
Lysosome

GWAS Trait Find Similar Targets

No Header	No Header
monocyte count
platelet crit

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
endocrine/exocrine gland phenotype
mortality/aging
nervous system phenotype

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	SNAP associated protein	VGNC:6996	738328
Mouse	SNAP-associated protein	MGI:1333745	20615
Rat	SNAP-associated protein	RGD:1560377	295217
Dog	SNAP associated protein	VGNC:46595	490456
Horse	SNAP associated protein	VGNC:23381	100056434

Species	Name	OMA	EggNOG	Inparanoid
Chimp	SNAP associated protein
Mouse	SNAP-associated protein
Rat	SNAP-associated protein
Dog	SNAP associated protein
Horse	SNAP associated protein

Publication Statistics

PubMed Score 55.19

PubMed score by year

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PubTator Score 30.22

PubTator score by year

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Related Publications

Text Mined References (43)

GeneRif Annotations (18)

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PMID	Year	Title