Identity
HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
CMS25,SPAX1,SYB1,VAMP-1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6843
MIM: 185880
HGNC: 12642
Ensembl: ENSG00000139190
Variants:
dbSNP: 6843
ClinVar: 6843
TCGA: ENSG00000139190
COSMIC: VAMP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139190 | ENST00000361716 | P23763 |
| ENSG00000139190 | ENST00000396308 | P23763 |
| ENSG00000139190 | ENST00000400911 | P23763 |
| ENSG00000139190 | ENST00000535180 | F5GZV7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38355957 | 2024 | Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. | 0 |
| 38355957 | 2024 | Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. | 0 |
| 33631708 | 2021 | Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype. | 5 |
| 34454100 | 2021 | Prefrontal cortex VAMP1 gene network moderates the effect of the early environment on cognitive flexibility in children. | 4 |
| 33631708 | 2021 | Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype. | 5 |
| 34454100 | 2021 | Prefrontal cortex VAMP1 gene network moderates the effect of the early environment on cognitive flexibility in children. | 4 |
| 28253535 | 2017 | Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. | 24 |
| 28253535 | 2017 | Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. | 24 |
| 25881291 | 2015 | Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility. | 7 |
| 25881291 | 2015 | Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility. | 7 |
| 25010769 | 2014 | Widespread sequence variations in VAMP1 across vertebrates suggest a potential selective pressure from botulinum neurotoxins. | 22 |
| 25010769 | 2014 | Widespread sequence variations in VAMP1 across vertebrates suggest a potential selective pressure from botulinum neurotoxins. | 22 |
| 22958904 | 2012 | VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. | 16 |
| 22958904 | 2012 | VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. | 16 |
| 21330375 | 2011 | Structural and functional analysis of tomosyn identifies domains important in exocytotic regulation. | 26 |
Citation
Dessen P
VAMP1 (vesicle associated membrane protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/50566/vamp1
