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
213303752011Structural and functional analysis of tomosyn identifies domains important in exocytotic regulation.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
250107692014Widespread sequence variations in VAMP1 across vertebrates suggest a potential selective pressure from botulinum neurotoxins.15
229589042012VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.12
282535352017Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.12
258812912015Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.4
184579122008Heterogeneous expression of SNARE proteins SNAP-23, SNAP-25, Syntaxin1 and VAMP in human parathyroid tissue.3

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