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Aliases for SNAPIN Gene

Aliases for SNAPIN Gene

  • SNAP-Associated Protein 2 3 4
  • BLOC1S7 3 4 6
  • SNAPAP 3 4 6
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 7 3 4
  • Synaptosomal-Associated Protein 25-Binding Protein 3 4
  • SNAP-25-Binding Protein 2 3
  • BLOC-1 Subunit 7 3 4
  • BLOS7 3 6
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 7 3
  • Biogenesis Of Lysosomal Organelles Complex-1 2
  • SNARE Associated Protein Snapin 3
  • SNARE-Associated Protein Snapin 3
  • Subunit 7 2
  • SNAP25BP 4
  • Snapin 2

External Ids for SNAPIN Gene

Previous Symbols for SNAPIN Gene

  • SNAPAP

Summaries for SNAPIN Gene

Entrez Gene Summary for SNAPIN Gene

  • 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]

GeneCards Summary for SNAPIN Gene

SNAPIN (SNAP-Associated Protein) is a Protein Coding gene. Diseases associated with SNAPIN include tricuspid valve stenosis and platelet storage pool deficiency. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. GO annotations related to this gene include SNARE binding.

UniProtKB/Swiss-Prot for SNAPIN Gene

  • 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.

Gene Wiki entry for SNAPIN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNAPIN Gene

Genomics for SNAPIN Gene

Genomic Location for SNAPIN Gene

Start:
153,658,654 bp from pter
End:
153,661,852 bp from pter
Size:
3,199 bases
Orientation:
Plus strand

Genomic View for SNAPIN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNAPIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNAPIN Gene

Regulatory Elements for SNAPIN Gene

Proteins for SNAPIN Gene

  • Protein details for SNAPIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95295-SNAPN_HUMAN
    Recommended name:
    SNARE-associated protein Snapin
    Protein Accession:
    O95295
    Secondary Accessions:
    • D3DV56
    • Q5SXU8

    Protein attributes for SNAPIN Gene

    Size:
    136 amino acids
    Molecular mass:
    14874 Da
    Quaternary structure:
    • 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. 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. Associates with the SNARE complex. Interacts with CNTRL, NANOS1, PUM2 and RGS7. Interacts with TOR1A; the interaction is direct and associates SNAPIN with the CSN complex. Interacts with human cytomegalovirus/HHV-5 protein UL70.

neXtProt entry for SNAPIN Gene

Proteomics data for SNAPIN Gene at MOPED

Post-translational modifications for SNAPIN Gene

  • Phosphorylated by CSNK1D/CK1 (By similarity). Phosphorylated by PKD, phosphorylation controls SNAPIN protein stability.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNAPIN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SNAPIN Gene

Domains for SNAPIN Gene

Gene Families for SNAPIN Gene

HGNC:
  • BLOC1S :Biogenesis of lysosomal organelles complex-1 subunits

Protein Domains for SNAPIN Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SNAPN_HUMAN
Family:
  • Belongs to the SNAPIN family.:
    • O95295
genes like me logo Genes that share domains with SNAPIN: view

Function for SNAPIN Gene

Molecular function for SNAPIN Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SNAPIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IDA 10195194
GO:0005515 protein binding IPI 12809483
genes like me logo Genes that share ontologies with SNAPIN: view

Phenotypes for SNAPIN Gene

genes like me logo Genes that share phenotypes with SNAPIN: view

Animal Models for SNAPIN Gene

MGI Knock Outs for SNAPIN:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SNAPIN Gene

Localization for SNAPIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNAPIN Gene

Cytoplasm. Membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, perinuclear region. Golgi apparatus membrane. Cytoplasmic vesicle, secretory vesicle. Note=May be cytoplasmic and peripheral membrane bound or anchored to the vesicular membrane through an N-terminal signal anchor (By similarity). Colocalizes with NANOS1 and PUM2 in the perinuclear region of germ cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNAPIN Gene COMPARTMENTS Subcellular localization image for SNAPIN gene
Compartment Confidence
cytosol 5
golgi apparatus 4
nucleus 4
endosome 2
lysosome 2
vacuole 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SNAPIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005730 nucleolus IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol --
GO:0008021 synaptic vesicle IDA 21102408
genes like me logo Genes that share ontologies with SNAPIN: view

Pathways for SNAPIN Gene

genes like me logo Genes that share pathways with SNAPIN: view

Gene Ontology (GO) - Biological Process for SNAPIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0007268 synaptic transmission --
GO:0007269 neurotransmitter secretion TAS 10195194
GO:0008089 anterograde axon cargo transport ISS --
GO:0008333 endosome to lysosome transport IGI 22797916
genes like me logo Genes that share ontologies with SNAPIN: view

Compounds for SNAPIN Gene

(1) HMDB Compounds for SNAPIN Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with SNAPIN: view

Transcripts for SNAPIN Gene

Unigene Clusters for SNAPIN Gene

SNAP-associated protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNAPIN Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d · 4e
SP1:
SP2: - -
SP3:
SP4: - - -
SP5:

Relevant External Links for SNAPIN Gene

GeneLoc Exon Structure for
SNAPIN
ECgene alternative splicing isoforms for
SNAPIN

Expression for SNAPIN Gene

mRNA expression in normal human tissues for SNAPIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNAPIN Gene

SOURCE GeneReport for Unigene cluster for SNAPIN Gene Hs.32018

mRNA Expression by UniProt/SwissProt for SNAPIN Gene

O95295-SNAPN_HUMAN
Tissue specificity: Expressed in male germ cells of adult testis (at protein level).
genes like me logo Genes that share expressions with SNAPIN: view

Orthologs for SNAPIN Gene

This gene was present in the common ancestor of animals.

Orthologs for SNAPIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNAPIN 36
  • 99.51 (n)
  • 100 (a)
SNAPIN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNAPIN 36
  • 89.46 (n)
  • 97.06 (a)
SNAPIN 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNAPIN 36
  • 86.45 (n)
  • 97.56 (a)
SNAPIN 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snapin 36
  • 89.95 (n)
  • 97.79 (a)
Snapin 16
Snapin 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNAPIN 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snapin 36
  • 89.95 (n)
  • 97.79 (a)
chicken
(Gallus gallus)
Aves SNAPIN 36
  • 75.63 (n)
  • 87.39 (a)
SNAPIN 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNAPIN 37
  • 70 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12535 36
zebrafish
(Danio rerio)
Actinopterygii snapin 36
  • 69.97 (n)
  • 81.82 (a)
snapin 37
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta snapin 37
  • 31 (a)
OneToOne
Species with no ortholog for SNAPIN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SNAPIN Gene

ENSEMBL:
Gene Tree for SNAPIN (if available)
TreeFam:
Gene Tree for SNAPIN (if available)

Paralogs for SNAPIN Gene

No data available for Paralogs for SNAPIN Gene

Variants for SNAPIN Gene

Sequence variations from dbSNP and Humsavar for SNAPIN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs8532 -- 153,659,467(+) AATGA(A/G)GATCA synonymous-codon, reference, nc-transcript-variant
rs1802461 - 153,661,224(+) ACCAC(A/T)GTGTT reference, missense, nc-transcript-variant
rs3806234 -- 153,658,595(+) CGCCC(A/G)GTTCG upstream-variant-2KB
rs4515829 -- 153,657,191(+) ccagg(A/C)tgaag upstream-variant-2KB
rs6427640 -- 153,660,376(+) gggcg(A/C)ggtgg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNAPIN Gene

Variant ID Type Subtype PubMed ID
nsv464028 CNV Gain 19166990

Relevant External Links for SNAPIN Gene

HapMap Linkage Disequilibrium report
SNAPIN

Disorders for SNAPIN Gene

Relevant External Links for SNAPIN

Human Genome Epidemiology (HuGE) Navigator
SNAPIN
genes like me logo Genes that share disorders with SNAPIN: view

No data available for UniProtKB/Swiss-Prot for SNAPIN Gene

Publications for SNAPIN Gene

  1. Snapin: a SNARE-associated protein implicated in synaptic transmission. (PMID: 10195194) Ilardi J.M. … Sheng Z.-H. (Nat. Neurosci. 1999) 2 3 4 23
  2. Snapin interacts with the N-terminus of regulator of G protein signaling 7. (PMID: 12659861) Hunt R.A. … Young K.H. (Biochem. Biophys. Res. Commun. 2003) 2 3 4 23
  3. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome- related organelles complex-1 (BLOC-1). (PMID: 15102850) Starcevic M. … Dell'Angelica E.C. (J. Biol. Chem. 2004) 3 4 23
  4. The dystonia-associated protein torsinA modulates synaptic vesicle recycling. (PMID: 18167355) Granata A. … Warner T.T. (J. Biol. Chem. 2008) 3 4 23
  5. The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells. (PMID: 19168546) Ginter-Matuszewska B. … Jaruzelska J. (Mol. Hum. Reprod. 2009) 3 4 23

Products for SNAPIN Gene

  • antibodies-online proteins for SNAPIN
  • antibodies-online antibodies for SNAPIN
  • antibodies-online kits for SNAPIN

Sources for SNAPIN Gene

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