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SNAPIN SNAP associated protein [ Homo sapiens (human) ]

Gene ID: 23557, updated on 21-Dec-2019

Summary

Official Symbol
SNAPINprovided by HGNC
Official Full Name
SNAP associated proteinprovided by HGNC
Primary source
HGNC:HGNC:17145
See related
Ensembl:ENSG00000143553 MIM:607007
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BLOS7; BORCS3; SNAPAP; BLOC1S7
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]
Expression
Ubiquitous expression in fat (RPKM 19.5), heart (RPKM 18.9) and 25 other tissues See more
Orthologs

Genomic context

See SNAPIN in Genome Data Viewer
Location:
1q21.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (153658654..153661852)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153631130..153634328)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene S100 calcium binding protein A13 Neighboring gene S100 calcium binding protein A1 Neighboring gene chromatin target of PRMT1 Neighboring gene interleukin enhancer binding factor 2 Neighboring gene tRNA-iMet (anticodon CAT) 1-1 Neighboring gene natriuretic peptide receptor 1 Neighboring gene microRNA 8083

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
autophagosome maturation IEA
Inferred from Electronic Annotation
more info
 
cellular protein-containing complex localization IEA
Inferred from Electronic Annotation
more info
 
endosome to lysosome transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome to lysosome transport IGI
Inferred from Genetic Interaction
more info
PubMed 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
late endosome to lysosome transport IEA
Inferred from Electronic Annotation
more info
 
lysosomal lumen acidification IEA
Inferred from Electronic Annotation
more info
 
lysosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome organization NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
PubMed 
positive regulation of late endosome to lysosome transport TAS
Traceable Author Statement
more info
PubMed 
protein maturation IEA
Inferred from Electronic Annotation
more info
 
regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of synaptic vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde axonal transport IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle exocytosis IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle fusion to presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle maturation IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
terminal button organization IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BLOC-1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
BORC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BORC complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
SNARE-associated protein Snapin
Names
BLOC-1 related complex subunit 3
BLOC-1 subunit 7
SNAP-25-binding protein
SNARE associated protein snapin
biogenesis of lysosomal organelles complex-1, subunit 7
biogenesis of lysosome-related organelles complex 1 subunit 7
synaptosomal-associated protein 25-binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012437.6NP_036569.1  SNARE-associated protein Snapin

    See identical proteins and their annotated locations for NP_036569.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein.
    Source sequence(s)
    AI018675, BC000761, BI117540
    Consensus CDS
    CCDS1049.1
    UniProtKB/Swiss-Prot
    O95295
    Related
    ENSP00000357674.5, ENST00000368685.6
    Conserved Domains (1) summary
    pfam14712
    Location:24110
    Snapin_Pallidin; Snapin/Pallidin

RNA

  1. NR_052019.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI018675, BC000761, BI117540, CD671119
    Related
    ENST00000462880.1
  2. NR_052020.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI018675, BC000761, BE278772, BI117540

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    153658654..153661852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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