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Aliases for SNAPIN Gene

Aliases for SNAPIN Gene

  • SNAP Associated Protein 2 3 5
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 7 3 4
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 7 2 3
  • Synaptosomal-Associated Protein 25-Binding Protein 3 4
  • SNAP-25-Binding Protein 2 3
  • SNAP-Associated Protein 2 4
  • BLOC-1 Subunit 7 3 4
  • BLOC1S7 3 4
  • SNAPAP 3 4
  • SNARE Associated Protein Snapin 3
  • SNARE-Associated Protein Snapin 3
  • SNAP25BP 4
  • Snapin 2
  • BORCS3 3
  • BLOS7 3

External Ids for SNAPIN Gene

Previous HGNC Symbols for SNAPIN Gene

  • SNAPAP

Previous GeneCards Identifiers for SNAPIN Gene

  • GC01P151898
  • GC01P153631
  • GC01P124994

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. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. 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 (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).

Gene Wiki entry for SNAPIN Gene

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

Genomics for SNAPIN Gene

Regulatory Elements for SNAPIN Gene

Enhancers for SNAPIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G153606 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -46.2 -46195 11.6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 S100A1 SNAPIN ILF2 ENSG00000243613 ENSG00000233222 INTS3 S100A16 S100A13 ENSG00000272030 S100A14
GH01G153561 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -93.1 -93093 8.8 CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 MEF2D GLIS1 NBN NR2C1 S100A6 S100A3 S100A5 ENSG00000238279 S100A16 S100A13 S100A14 SNAPIN S100A1 CHTOP
GH01G153727 1.3 ENCODE dbSUPER 10.6 +70.8 70826 4.2 HDGF PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 S100A1 SLC27A3 ILF2 NPR1 ENSG00000233222 ENSG00000243613 CHTOP SNAPIN DENND4B C1orf189
GH01G153733 1.3 Ensembl ENCODE dbSUPER 10.6 +76.2 76220 2.2 HDGF GTF2F1 PKNOX1 SIN3A BMI1 MTA3 GATA3 ZNF366 RELB IKZF2 S100A1 ILF2 NPR1 SNAPIN S100A13 CHTOP C1orf189 INTS3 ENSG00000243613
GH01G153577 1 Ensembl ENCODE 10.5 -79.9 -79935 2.0 KLF1 JUN CEBPB EP300 ZNF83 ZNF664 ZNF121 ZFHX2 JUND GATA3 S100A16 S100A14 S100A1 CHTOP S100A13 S100A3 SNAPIN ILF2 NPR1 ENSG00000233222
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNAPIN on UCSC Golden Path with GeneCards custom track

Promoters for SNAPIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013824 346 1201 PKNOX1 FOXA2 ARNT CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 YY1

Genomic Location for SNAPIN Gene

Chromosome:
1
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

Genes around SNAPIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNAPIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNAPIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    • 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).
    • (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL70.

neXtProt entry for SNAPIN Gene

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:
REFSEQ proteins:

No data available for DME Specific Peptides for SNAPIN Gene

Domains & Families for SNAPIN Gene

Protein Domains for SNAPIN Gene

Suggested Antigen Peptide Sequences for SNAPIN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95295

UniProtKB/Swiss-Prot:

SNAPN_HUMAN :
  • Belongs to the SNAPIN family.
Family:
  • Belongs to the SNAPIN family.
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 (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).

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

Animal Models for SNAPIN Gene

MGI Knock Outs for SNAPIN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNAPIN Gene

Localization for SNAPIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNAPIN Gene

Membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytosol. Cytoplasm, perinuclear region. Golgi apparatus membrane. Lysosome membrane. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Note=Colocalizes with NANOS1 and PUM2 in the perinuclear region of germ cells. {ECO:0000269 PubMed:19168546}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNAPIN gene
Compartment Confidence
cytosol 5
lysosome 4
golgi apparatus 4
nucleus 3
endosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SNAPIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with SNAPIN: view

Pathways & Interactions for SNAPIN Gene

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

SIGNOR curated interactions for SNAPIN Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SNAPIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport TAS,IEA --
GO:0006887 exocytosis IEA --
GO:0007040 lysosome organization IEA --
GO:0007042 lysosomal lumen acidification IEA --
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with SNAPIN: view

Drugs & Compounds for SNAPIN Gene

(1) Drugs for SNAPIN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SNAPIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNAPIN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNAPIN Gene



Protein tissue co-expression partners for SNAPIN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNAPIN Gene:

SNAPIN

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).

Evidence on tissue expression from TISSUES for SNAPIN Gene

  • Nervous system(4.7)
  • Lung(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with SNAPIN: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNAPIN Gene

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 34 35
  • 99.51 (n)
oppossum
(Monodelphis domestica)
Mammalia SNAPIN 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snapin 34 16 35
  • 89.95 (n)
rat
(Rattus norvegicus)
Mammalia Snapin 34
  • 89.95 (n)
cow
(Bos Taurus)
Mammalia SNAPIN 34 35
  • 89.46 (n)
dog
(Canis familiaris)
Mammalia SNAPIN 34 35
  • 86.45 (n)
chicken
(Gallus gallus)
Aves SNAPIN 34 35
  • 75.63 (n)
lizard
(Anolis carolinensis)
Reptilia SNAPIN 35
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii snapin 34 35
  • 69.97 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12535 34
fruit fly
(Drosophila melanogaster)
Insecta snapin 35
  • 31 (a)
OneToOne
Species where no ortholog for SNAPIN was found in the sources mined by GeneCards:
  • 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
rs1000044810 -- 153,660,446(+) GAGTT(C/G)GAGAC intron-variant
rs1000402483 -- 153,656,934(+) CGAGA(C/T)CATCC upstream-variant-2KB
rs1001074206 -- 153,661,400(+) ACCTT(-/CA)GACAT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1001203403 -- 153,661,358(+) TTTCA(A/G)CAGAC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1001265820 -- 153,660,391(+) TGCCT(A/G)TAATC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv582n54 CNV gain 21841781
nsv464028 CNV gain 19166990

Variation tolerance for SNAPIN Gene

Residual Variation Intolerance Score: 37.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 9.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNAPIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNAPIN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNAPIN Gene

Disorders for SNAPIN Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNAPIN Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tricuspid valve stenosis
  • tricuspid stenosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SNAPIN

Human Genome Epidemiology (HuGE) Navigator
SNAPIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNAPIN
genes like me logo Genes that share disorders with SNAPIN: view

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

Publications for SNAPIN Gene

  1. 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 22 64
  2. Snapin: a SNARE-associated protein implicated in synaptic transmission. (PMID: 10195194) Ilardi J.M. … Sheng Z.-H. (Nat. Neurosci. 1999) 2 3 4 22 64
  3. 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 22 64
  4. The dystonia-associated protein torsinA modulates synaptic vesicle recycling. (PMID: 18167355) Granata A. … Warner T.T. (J. Biol. Chem. 2008) 3 4 22 64
  5. 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 22 64

Products for SNAPIN Gene

Sources for SNAPIN Gene

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