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 ... See more...

Aliases for VAMP1 Gene

Aliases for VAMP1 Gene

  • Vesicle Associated Membrane Protein 1 2 3 5
  • VAMP-1 2 3 4
  • Vesicle-Associated Membrane Protein 1 3 4
  • SYB1 3 4
  • Vesicle-Associated Membrane Protein 1 (Synaptobrevin 1) 3
  • Synaptobrevin 1 2
  • Synaptobrevin-1 4
  • CMS25 3
  • SPAX1 3
  • VAMP1 5

External Ids for VAMP1 Gene

Previous HGNC Symbols for VAMP1 Gene

  • SYB1

Previous GeneCards Identifiers for VAMP1 Gene

  • GC12M006426
  • GC12M006546
  • GC12M006441
  • GC12M006425
  • GC12M006571

Summaries for VAMP1 Gene

Entrez Gene Summary for VAMP1 Gene

  • 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]

GeneCards Summary for VAMP1 Gene

VAMP1 (Vesicle Associated Membrane Protein 1) is a Protein Coding gene. Diseases associated with VAMP1 include Spastic Ataxia 1, Autosomal Dominant and Myasthenic Syndrome, Congenital, 25, Presynaptic. Among its related pathways are Neuroscience and Uptake and actions of bacterial toxins. Gene Ontology (GO) annotations related to this gene include SNARE binding and SNAP receptor activity. An important paralog of this gene is VAMP2.

UniProtKB/Swiss-Prot Summary for VAMP1 Gene

  • Involved in the targeting and/or fusion of transport vesicles to their target membrane.

Gene Wiki entry for VAMP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VAMP1 Gene

Genomics for VAMP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VAMP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VAMP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VAMP1

Top Transcription factor binding sites by QIAGEN in the VAMP1 gene promoter:
  • AP-1
  • c-Myc
  • ITF-2
  • Max
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta
  • XBP-1
  • Zic1

Genomic Locations for VAMP1 Gene

Genomic Locations for VAMP1 Gene
chr12:6,462,237-6,470,987
(GRCh38/hg38)
Size:
8,751 bases
Orientation:
Minus strand
chr12:6,571,403-6,580,153
(GRCh37/hg19)
Size:
8,751 bases
Orientation:
Minus strand

Genomic View for VAMP1 Gene

Genes around VAMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VAMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VAMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VAMP1 Gene

Proteins for VAMP1 Gene

  • Protein details for VAMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23763-VAMP1_HUMAN
    Recommended name:
    Vesicle-associated membrane protein 1
    Protein Accession:
    P23763
    Secondary Accessions:
    • A8MVP3
    • D3DUR3
    • O75468
    • Q15857
    • Q6FG94
    • Q8IVC9

    Protein attributes for VAMP1 Gene

    Size:
    118 amino acids
    Molecular mass:
    12902 Da
    Quaternary structure:
    • Interacts with VAPA and VAPB.

    Alternative splice isoforms for VAMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAMP1 Gene

Post-translational modifications for VAMP1 Gene

  • (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which probably hydrolyzes the 78-Gln- -Phe-79 bond and inhibits neurotransmitter release (PubMed:22289120).
  • (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which probably hydrolyzes the 61-Arg- -Leu-62 bond and inhibits neurotransmitter release (PubMed:22289120). BoNT/D has low catalytic activity on this protein due to its sequence (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D.
  • (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which probably hydrolyzes the 60-Gln- -Lys-61 bond and inhibits neurotransmitter release (PubMed:22289120).
  • (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type X (BoNT/X) which probably hydrolyzes the 68-Arg- -Ala-69 bond and inhibits neurotransmitter release (PubMed:29540745). It remains unknown whether BoNT/X is ever produced, or what organisms it targets.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VAMP1 Gene

No data available for DME Specific Peptides for VAMP1 Gene

Domains & Families for VAMP1 Gene

Gene Families for VAMP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for VAMP1 Gene

InterPro:
Blocks:
  • Synaptobrevin
ProtoNet:

Suggested Antigen Peptide Sequences for VAMP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57686, highly similar to Vesicle-associated membrane protein 1 (B4DZX9_HUMAN)
  • Synaptobrevin-1 (VAMP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23763

UniProtKB/Swiss-Prot:

VAMP1_HUMAN :
  • Belongs to the synaptobrevin family.
Family:
  • Belongs to the synaptobrevin family.
genes like me logo Genes that share domains with VAMP1: view

Function for VAMP1 Gene

Molecular function for VAMP1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the targeting and/or fusion of transport vesicles to their target membrane.
GENATLAS Biochemistry:
vesicule associated membrane protein 1,synaptobrevin 1,expressed in neurons,forming a synaptic core complex with syntaxin and synaptosome associated proteins,playing a central role in neural exocytosis,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein

Phenotypes From GWAS Catalog for VAMP1 Gene

Gene Ontology (GO) - Molecular Function for VAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IBA 21873635
GO:0005515 protein binding IPI 9920726
GO:0019905 syntaxin binding IBA 21873635
genes like me logo Genes that share ontologies with VAMP1: view
genes like me logo Genes that share phenotypes with VAMP1: view

Human Phenotype Ontology for VAMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VAMP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for VAMP1 Gene

Localization for VAMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VAMP1 Gene

[Isoform 1]: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Single-pass type IV membrane protein. Cell junction, synapse, synaptosome.
[Isoform 2]: Cytoplasmic vesicle membrane. Single-pass type IV membrane protein. Cell junction, synapse, synaptosome.
[Isoform 3]: Mitochondrion outer membrane. Single-pass type IV membrane protein.

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 VAMP1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 4
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for VAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA 21873635
GO:0005887 integral component of plasma membrane TAS 1976629
genes like me logo Genes that share ontologies with VAMP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VAMP1 Gene

Pathways & Interactions for VAMP1 Gene

genes like me logo Genes that share pathways with VAMP1: view

Pathways by source for VAMP1 Gene

1 Qiagen pathway for VAMP1 Gene
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for VAMP1 Gene

Gene Ontology (GO) - Biological Process for VAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006906 vesicle fusion IBA 21873635
GO:0016082 synaptic vesicle priming IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0031630 regulation of synaptic vesicle fusion to presynaptic active zone membrane IEA --
GO:0035493 SNARE complex assembly IEA,IBA 21873635
genes like me logo Genes that share ontologies with VAMP1: view

No data available for SIGNOR curated interactions for VAMP1 Gene

Drugs & Compounds for VAMP1 Gene

(1) Drugs for VAMP1 Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Botulinum Toxin Type B Approved, Investigational Pharma Target, binder 0

(1) Additional Compounds for VAMP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with VAMP1: view

Transcripts for VAMP1 Gene

mRNA/cDNA for VAMP1 Gene

4 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VAMP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VAMP1 Gene

No ASD Table

Relevant External Links for VAMP1 Gene

GeneLoc Exon Structure for
VAMP1

Expression for VAMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VAMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VAMP1 Gene

This gene is overexpressed in Nasal epithelium (26.6), Frontal cortex (21.8), and Brain (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VAMP1 Gene



Protein tissue co-expression partners for VAMP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VAMP1

SOURCE GeneReport for Unigene cluster for VAMP1 Gene:

Hs.20021

mRNA Expression by UniProt/SwissProt for VAMP1 Gene:

P23763-VAMP1_HUMAN
Tissue specificity: Nervous system, skeletal muscle and adipose tissue.

Evidence on tissue expression from TISSUES for VAMP1 Gene

  • Nervous system(5)
  • Muscle(4.4)
  • Kidney(2.6)
  • Blood(2.5)
  • Adrenal gland(2.2)
  • Intestine(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VAMP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with VAMP1: view

No data available for mRNA differential expression in normal tissues for VAMP1 Gene

Orthologs for VAMP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VAMP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VAMP1 30 31
  • 99.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VAMP1 31
  • 96 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Vamp1 30 17 31
  • 93.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VAMP1 30 31
  • 92.37 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia VAMP1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VAMP1 30 31
  • 79.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VAMP1 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vamp1 30
  • 75.19 (n)
Zebrafish
(Danio rerio)
Actinopterygii vamp1 30 31
  • 75.85 (n)
OneToMany
VAMP1 (2 of 2) 31
  • 73 (a)
OneToMany
Dr.19773 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10406 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007721 30
  • 64.13 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Syb 30 31
  • 59.22 (n)
ManyToMany
n-syb 31
  • 33 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea snb-1 30 31
  • 72.37 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNC1 31
  • 30 (a)
ManyToMany
SNC2 31
  • 27 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14705 30
Species where no ortholog for VAMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for VAMP1 Gene

ENSEMBL:
Gene Tree for VAMP1 (if available)
TreeFam:
Gene Tree for VAMP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VAMP1: view image

Paralogs for VAMP1 Gene

(5) SIMAP similar genes for VAMP1 Gene using alignment to 2 proteins:

  • VAMP1_HUMAN
  • F5GZV7_HUMAN
genes like me logo Genes that share paralogs with VAMP1: view

Variants for VAMP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VAMP1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
696949 Likely Benign: Spastic paraplegia 6,466,240(-) C/T SYNONYMOUS_VARIANT
698325 Likely Benign: not provided 6,466,357(-) G/A INTRON_VARIANT
763491 Likely Benign: not provided 6,465,980(-) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
849848 Uncertain Significance: Spastic paraplegia 6,464,905(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1555130465 Likely Pathogenic: not provided 6,465,900(-) G/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for VAMP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for VAMP1 Gene

Variant ID Type Subtype PubMed ID
esv2745471 CNV deletion 23290073
esv2759876 CNV gain 17122850
esv34325 CNV gain 17911159
esv34390 CNV gain 17911159
esv3628406 CNV gain 21293372
nsv1070506 CNV deletion 25765185
nsv442252 CNV gain 18776908
nsv525022 CNV gain 19592680
nsv818881 CNV gain 17921354
nsv8894 CNV gain 18304495

Variation tolerance for VAMP1 Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VAMP1 Gene

Human Gene Mutation Database (HGMD)
VAMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VAMP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VAMP1 Gene

Disorders for VAMP1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for VAMP1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search VAMP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VAMP1_HUMAN
  • Spastic ataxia 1, autosomal dominant (SPAX1) [MIM:108600]: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. {ECO:0000269 PubMed:22958904}. Note=The disease is caused by mutations affecting the gene represented in this entry. A mutation affecting a critical donor site for the splicing of VAMP1 isoforms leads to the loss of neuron-specific isoform 1 and subsequently results in haploinsufficiency (PubMed:22958904). Therefore, there would be less neurotransmitter exocytosis in specific regions of the brain, causing the symptoms of SPAX1. {ECO:0000303 PubMed:22958904}.
  • Myasthenic syndrome, congenital, 25, presynaptic (CMS25) [MIM:618323]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS25 is an autosomal recessive form characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. {ECO:0000269 PubMed:28168212, ECO:0000269 PubMed:28253535, ECO:0000269 PubMed:28600779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for VAMP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with VAMP1: view

No data available for Genatlas for VAMP1 Gene

Publications for VAMP1 Gene

  1. Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2. (PMID: 1976629) Archer BT … Südhof TC (The Journal of biological chemistry 1990) 2 3 4 23
  2. A splice-isoform of vesicle-associated membrane protein-1 (VAMP-1) contains a mitochondrial targeting signal. (PMID: 9658161) Isenmann S … Wattenberg BW (Molecular biology of the cell 1998) 3 4 23
  3. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. (PMID: 28253535) Salpietro V … Houlden H (Annals of neurology 2017) 3 4
  4. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. (PMID: 22958904) Bourassa CV … Rouleau GA (American journal of human genetics 2012) 3 4
  5. Specificity of botulinum protease for human VAMP family proteins. (PMID: 22289120) Yamamoto H … Ihara H (Microbiology and immunology 2012) 3 4

Products for VAMP1 Gene

Sources for VAMP1 Gene