VAMP1 (vesicle associated membrane protein 1)

2008-12-01  

Identity

HGNC
VAMP1
LOCATION
12p13.31
LOCUSID
6843
ALIAS
CMS25,SPAX1,SYB1,VAMP-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6843
MIM: 185880
HGNC: 12642
Ensembl: ENSG00000139190

Variants:

dbSNP: 6843
ClinVar: 6843
TCGA: ENSG00000139190
COSMIC: VAMP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139190ENST00000361716P23763
ENSG00000139190ENST00000396308P23763
ENSG00000139190ENST00000400911P23763
ENSG00000139190ENST00000535180F5GZV7

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SNARE interactions in vesicular transportKEGGko04130
SNARE interactions in vesicular transportKEGGhsa04130
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Uptake and actions of bacterial toxinsREACTOMER-HSA-5339562
Neurotoxicity of clostridium toxinsREACTOMER-HSA-168799
Toxicity of botulinum toxin type D (BoNT/D)REACTOMER-HSA-5250955
Toxicity of botulinum toxin type F (BoNT/F)REACTOMER-HSA-5250981
Toxicity of botulinum toxin type G (BoNT/G)REACTOMER-HSA-5250989

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383559572024Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.0
383559572024Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.0
336317082021Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.5
344541002021Prefrontal cortex VAMP1 gene network moderates the effect of the early environment on cognitive flexibility in children.4
336317082021Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.5
344541002021Prefrontal cortex VAMP1 gene network moderates the effect of the early environment on cognitive flexibility in children.4
282535352017Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.24
282535352017Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.24
258812912015Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.7
258812912015Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.7
250107692014Widespread sequence variations in VAMP1 across vertebrates suggest a potential selective pressure from botulinum neurotoxins.22
250107692014Widespread sequence variations in VAMP1 across vertebrates suggest a potential selective pressure from botulinum neurotoxins.22
229589042012VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.16
229589042012VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.16
213303752011Structural 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