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VAMP1 vesicle associated membrane protein 1 [ Homo sapiens (human) ]

Gene ID: 6843, updated on 12-Aug-2018

Summary

Official Symbol
VAMP1provided by HGNC
Official Full Name
vesicle associated membrane protein 1provided by HGNC
Primary source
HGNC:HGNC:12642
See related
Ensembl:ENSG00000139190 MIM:185880; Vega:OTTHUMG00000168269
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
SYB1; SPAX1; VAMP-1
Summary
Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]
Expression
Broad expression in bone marrow (RPKM 21.7), lymph node (RPKM 20.9) and 23 other tissues See more
Orthologs

Genomic context

See VAMP1 in Genome Data Viewer
Location:
12p13.31
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (6462237..6470899, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6571403..6579843, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CD27 antisense RNA 1 Neighboring gene signal recognition particle 14 pseudogene 1 Neighboring gene CD27 molecule Neighboring gene TAP binding protein like Neighboring gene plakophilin 2 pseudogene 1 Neighboring gene mitochondrial ribosomal protein L51

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Ataxia, spastic, 1, autosomal dominant
MedGen: C1970107 OMIM: 108600 GeneReviews: Hereditary Ataxia Overview
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NHGRI GWAS Catalog

Description
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686H12131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
SNARE complex assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic vesicle fusion to presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NOT azurophil granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
NOT cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
specific granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
vesicle-associated membrane protein 1
Names
vesicle-associated membrane protein 1 (synaptobrevin 1)

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.

Genomic

  1. NG_042188.1 RefSeqGene

    Range
    5001..13663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297438.1NP_001284367.1  vesicle-associated membrane protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001284367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1. Isoforms 3 and 4 are the same length but differ in their C-termini.
    Source sequence(s)
    AC005840, BC023286, CR749485, CR989458
    Consensus CDS
    CCDS73422.1
    UniProtKB/Swiss-Prot
    P23763
    UniProtKB/TrEMBL
    F5GZV7
    Related
    ENSP00000444181.1, OTTHUMP00000238560, ENST00000535180.5, OTTHUMT00000399269
    Conserved Domains (1) summary
    cd15870
    Location:3294
    R-SNARE_VAMP2; SNARE motif of VAMP2
  2. NM_014231.4NP_055046.1  vesicle-associated membrane protein 1 isoform 1

    See identical proteins and their annotated locations for NP_055046.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as VAMP-1A, encodes the longest isoform (1).
    Source sequence(s)
    AC005840, AF060538, BC023286, BF338798, BF341451, BQ717992, CR749485, R83084
    Consensus CDS
    CCDS41740.1
    UniProtKB/Swiss-Prot
    P23763
    Related
    ENSP00000379602.3, OTTHUMP00000238455, ENST00000396308.3, OTTHUMT00000399078
    Conserved Domains (1) summary
    cd15870
    Location:3294
    R-SNARE_VAMP2; SNARE motif of VAMP2
  3. NM_016830.3NP_058439.1  vesicle-associated membrane protein 1 isoform 3

    See identical proteins and their annotated locations for NP_058439.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as VAMP-1B, contains an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Isoforms 3 and 4 are the same length but differ in their C-termini.
    Source sequence(s)
    AF060538, BC023286, BM837373, CR749485
    Consensus CDS
    CCDS44809.1
    UniProtKB/Swiss-Prot
    P23763
    Related
    ENSP00000383702.3, OTTHUMP00000238454, ENST00000400911.7, OTTHUMT00000399077
    Conserved Domains (1) summary
    cd15870
    Location:3294
    R-SNARE_VAMP2; SNARE motif of VAMP2
  4. NM_199245.2NP_954740.1  vesicle-associated membrane protein 1 isoform 2

    See identical proteins and their annotated locations for NP_954740.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as VAMP-1D, has a different 3' structure, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC005840, AF060538, AU279974, BC023286, BF338798, BF341451, BI838752, CB215628, CR749485, R83084
    Consensus CDS
    CCDS31731.1
    UniProtKB/Swiss-Prot
    P23763
    Related
    ENSP00000355122.3, OTTHUMP00000238453, ENST00000361716.7, OTTHUMT00000399076
    Conserved Domains (1) summary
    cd15870
    Location:3294
    R-SNARE_VAMP2; SNARE motif of VAMP2

RNA

  1. NR_123717.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate internal exon and contains an alternate 3' terminal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC005840, BC023286, BE797045, CR749485

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    6462237..6470899 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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