SNAPIN - SNAP associated protein Gene

Also Known as BLOS7; BORCS3; SNAPAP; BLOC1S7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23557

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 Références 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 Références 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 Références 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

Snapin_Pallidin: Snapin/Pallidin (23 - 110)

  • 0
  • 100
  • 136 a.a.
Protein Preferred Names Protein Names

SNARE-associated protein Snapin

  • BLOC-1 related complex subunit 3

SNAPIN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
SNAPIN O95295 CCDC102B Homo sapiens Q68D86
Validated Y2H
32296183
Intra
SNAPIN O95295 NECAB2 Homo sapiens Q7Z6G3-2
Validated Y2H
32296183
Intra
SNAPIN O95295 BFSP2 Homo sapiens Q13515
Validated Y2H
32296183
Intra
SNAPIN O95295 EXOC1 Homo sapiens Q9NV70
Y2H Fragment Pooling
23414517
Intra
SNAPIN O95295 TPM2 Homo sapiens P07951-2
Validated Y2H
32296183
Intra
SNAPIN O95295 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
Intra
SNAPIN O95295 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
Intra
SNAPIN O95295 ABI2 Homo sapiens Q9NYB9-2
Validated Y2H
32296183
Intra
SNAPIN O95295 BANP Homo sapiens Q8N9N5-2
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT26 Homo sapiens Q7Z3Y9
Validated Y2H
32296183
Intra
SNAPIN O95295 BFSP1 Homo sapiens Q12934-2
Validated Y2H
32296183
Intra
SNAPIN O95295 IKBIP Homo sapiens Q70UQ0-4
Validated Y2H
32296183
Intra
SNAPIN O95295 RABGEF1 Homo sapiens Q9UJ41-4
Validated Y2H
32296183
Intra
SNAPIN O95295 SLC14A2 Homo sapiens Q15849-1
Anti Tag CoIP
17702749
Intra
SNAPIN O95295 SLC14A2 Homo sapiens Q15849-1
Pull Down
17702749
Intra
SNAPIN O95295 SLC14A2 Homo sapiens Q15849-1
Y2H
17702749
Intra
SNAPIN O95295 TPM4 Homo sapiens P67936
Validated Y2H
32296183
Intra
SNAPIN O95295 C20orf202 Homo sapiens A1L168
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 C20orf202 Homo sapiens A1L168
Y2H Array
32296183
Intra
SNAPIN O95295 ENTHD1 Homo sapiens Q8IYW4
Validated Y2H
32296183
Intra
SNAPIN O95295 KANK2 Homo sapiens Q63ZY3
Validated Y2H
32296183
Intra
SNAPIN O95295 PCYT1A Homo sapiens P49585
Validated Y2H
32296183
Intra
SNAPIN O95295 DENND1C Homo sapiens Q8IV53
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT24 Homo sapiens Q2M2I5
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT24 Homo sapiens Q2M2I5
Y2H Array
32296183
Intra
SNAPIN O95295 KRT24 Homo sapiens Q2M2I5
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 KRT24 Homo sapiens Q2M2I5
MAPPIT
32296183
Intra
SNAPIN O95295 KRT27 Homo sapiens Q7Z3Y8
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra
SNAPIN O95295 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 TSG101 Homo sapiens Q99816
Validated Y2H
32296183
Intra
SNAPIN O95295 BLOC1S1 Homo sapiens P78537
Validated Y2H
32296183
Intra
SNAPIN O95295 BLOC1S1 Homo sapiens P78537
MAPPIT
32296183
Intra
SNAPIN O95295 BLOC1S1 Homo sapiens P78537
Y2H
15102850
Intra
SNAPIN O95295 TPM3 Homo sapiens P06753
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT16 Homo sapiens P08779
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra
SNAPIN O95295 PLAC9 Homo sapiens Q5JTB6
Validated Y2H
32296183
Intra
SNAPIN O95295 INSYN1 Homo sapiens Q2T9L4
Y2H Array
32296183
Intra
SNAPIN O95295 INSYN1 Homo sapiens Q2T9L4
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 INSYN1 Homo sapiens Q2T9L4
Validated Y2H
32296183
Intra
SNAPIN O95295 DTNBP1 Homo sapiens Q96EV8
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 DTNBP1 Homo sapiens Q96EV8
Validated Y2H
32296183
Intra
SNAPIN O95295 DTNBP1 Homo sapiens Q96EV8
Y2H Array
32296183
Intra
SNAPIN O95295 BLOC1S2 Homo sapiens Q6QNY1
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 BLOC1S2 Homo sapiens Q6QNY1
Validated Y2H
32296183
Intra
SNAPIN O95295 BLOC1S2 Homo sapiens Q6QNY1
Y2H Array
32296183
Intra
SNAPIN O95295 SPTB Homo sapiens P11277
Y2H Fragment Pooling
23414517
Intra
SNAPIN O95295 LRRK2 Homo sapiens Q5S007
Anti Tag CoIP
23949442
Intra
SNAPIN O95295 LRRK2 Homo sapiens Q5S007
Pull Down
23949442
Intra
SNAPIN O95295 LRRK2 Homo sapiens Q5S007
Y2H
23949442
Intra
SNAPIN O95295 FSD2 Homo sapiens A1L4K1
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 FSD2 Homo sapiens A1L4K1
Y2H Array
32296183
Intra
SNAPIN O95295 EXOC7 Homo sapiens Q9UPT5-1
Validated Y2H
32296183
Intra
SNAPIN O95295 WASHC3 Homo sapiens Q9Y3C0
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT15 Homo sapiens P19012
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT15 Homo sapiens P19012
Y2H Array
32296183
Intra
SNAPIN O95295 KRT15 Homo sapiens P19012
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 CCNH Homo sapiens P51946
Validated Y2H
32296183
Intra
SNAPIN O95295 SKA1 Homo sapiens Q96BD8
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT20 Homo sapiens P35900
Validated Y2H
32296183
Intra
SNAPIN O95295 KRT19 Homo sapiens P08727
Y2H Prey Pooling
32296183
Intra
SNAPIN O95295 KRT19 Homo sapiens P08727
Y2H Array
32296183
Intra
SNAPIN O95295 KRT19 Homo sapiens P08727
Validated Y2H
32296183
Intra
SNAPIN O95295 NME7 Homo sapiens Q9Y5B8
Validated Y2H
32296183
Intra
SNAPIN O95295 NUP62CL Homo sapiens Q9H1M0
Validated Y2H
32296183
Intra
SNAPIN O95295 LMNB1 Homo sapiens P20700
Validated Y2H
32296183
Cross
SNAPIN O95295 Slc14a2 Rattus norvegicus Q62668-1
Pull Down
17702749
Cross
SNAPIN O95295 Slc14a2 Rattus norvegicus Q62668-1
Anti Bait CoIP
17702749
Cross
SNAPIN O95295 Slc14a2 Rattus norvegicus Q62668-1
Confocal
17702749
Cross: Cross-species interaction Intra: Intraspecies interaction

SNAPIN Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P89961 Snapin Antibody (YA9305) WB, ICC/IF, IF-Tissue, IP, ELISA human, mouse, rat

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS13481 SNAPIN Human Pre-designed siRNA Set A Pre-designed Set / 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
Others SNAPIN NCBI