SNAPIN - SNAP associated protein Gene

Homo sapiens

Also known as BLOS7; BORCS3; SNAPAP; BLOC1S7

Gene ID: 23557 | Gene type: protein coding

About SNAPIN

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,658,654-153,661,852 (from NCBI)

This gene has 4 transcripts (splice variants) and 193 orthologues. Ubiquitous expression in fat (RPKM 19.5), heart (RPKM 18.9) and 25 other tissues.

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]

SNAPIN Products(1)

mRNA	Protein	Name
NM_012437.6	NP_036569.1	SNARE-associated protein Snapin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SNARE binding	IDA IDA: Inferred from direct assay	10195194	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12809483	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within endosome to lysosome transport	IGI IGI: Inferred from genetic interaction	22797916	GOA
involved in lysosome localization	IMP IMP: Inferred from mutant phenotype	25898167	GOA
involved in regulation of protein binding	IMP IMP: Inferred from mutant phenotype	23949442	GOA
acts upstream of or within synaptic vesicle exocytosis	IDA IDA: Inferred from direct assay	10195194	GOA
involved in synaptic vesicle transport	IMP IMP: Inferred from mutant phenotype	18167355	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BLOC-1 complex	IDA IDA: Inferred from direct assay	15102850	GOA
part of BLOC-1 complex	IPI IPI: Inferred from physical interaction	22203680	GOA
part of BORC complex	IDA IDA: Inferred from direct assay	25898167	GOA
part of BORC complex	IPI IPI: Inferred from physical interaction	25898167	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	19168546	GOA
located in synapse	IDA IDA: Inferred from direct assay	10195194	GOA
located in synaptic vesicle	IDA IDA: Inferred from direct assay	21102408	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNAPIN Protein Structure

Snapin_Pallidin

0
100
136 a.a.

Protein Preferred Names

Protein Names

SNARE-associated protein Snapin

BLOC-1 related complex subunit 3

Related Diseases

Diseases

Alias

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Tricuspid Valve Stenosis

Tricuspid Stenosis	Tricuspid Stricture
Tricuspid Valve Stricture	Tricuspid Insufficiency With Obstruction
Tricuspid Insufficiency With Stenosis

Hermansky-Pudlak Syndrome 9

HPS9	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 9
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Ornithosis

Psittacosis	Chlamydial Pneumonia
Chlamydia Psittaci Infection	Chlamydia Psittaci

Storage Pool Platelet Disease

Platelet Storage Pool Deficiency	Storage Pool Disease Of Platelets
Dense Body Defect	Platelet Dense Granule Deficiency
Platelet Storage Pool Defect	Platelet Storage Pool Diseases
Alpha Delta Granule Deficiency	Alpha Dense Granule Deficiency
Combined Alpha-Delta Platelet Storage Pool Deficiency

Developmental And Epileptic Encephalopathy 4

DEE4	Epileptic Encephalopathy, Early Infantile, 4
Eiee4	Early Infantile Epileptic Encephalopathy 4
Stxbp1-Related Early-Onset Encephalopathy	Early Myoclonic Encephalopathy
Developmental And Epileptic Encephalopathy, 4	Stxbp1 Disorders
Stxbp1 Encephalopathy	Developmental And Epileptic Encephalopathy, Type 4
Early-Infantile Epileptic Encephalopathy 4	Stxbp1 Encephalopathy With Epilepsy
Stxbp1 Epileptic Encephalopathy	Stxbp1-Related Developmental And Epileptic Encephalopathy
Stxbp1-Related Epileptic Encephalopathy	Eme
Neonatal Epilepsy With Suppression-Burst Pattern	Encephalopathy, Epileptic, Early Infantile, Type 4

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13481	SNAPIN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SNAPIN	RGD	RGD:1560377
Bos taurus	SNAPIN	VGNC	VGNC:35058
Canis familiaris	SNAPIN	VGNC	VGNC:46595
Mus musculus	SNAPIN	MGD	MGI:1333745
Felis catus	SNAPIN	VGNC	VGNC:65524
Macaca mulatta	SNAPIN	VGNC	VGNC:106498

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