VAMP1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Vesicle-associated membrane protein 1 is a protein that in humans is encoded by the VAMP1 gene.[1][2]

Function[edit | edit source]

Synaptobrevins/VAMPs, syntaxins, and the 25-kD 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. VAMP1 is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Multiple alternative splice variants that encode proteins with alternative carboxy ends have been described, but the full-length nature of some variants has not been defined.[2]

Clinical significance[edit | edit source]

Homozygous mutations in VAMP1 have been identified in a series of children affected with a form of congenital myasthenic syndrome and similar presynaptic features in these patients and the knock-out VAMP1 mouse have been demonstrated.[3]

Interactive pathway map[edit | edit source]

Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

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<imagemap> Image:NicotineDopaminergic_WP1602.png
|{{{bSize}}}px|alt=Nicotine Activity on Dopaminergic Neurons edit]]
Nicotine Activity on Dopaminergic Neurons edit
  1. The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".

References[edit | edit source]

  1. Archer BT, Ozçelik T, Jahn R, Francke U, Südhof TC (October 1990). "Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2". The Journal of Biological Chemistry. 265 (28): 17267–73. PMID 1976629.
  2. 2.0 2.1 "Entrez Gene: VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)".
  3. Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS, Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H (April 2017). "Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome". Annals of Neurology. 81 (4): 597–603. doi:10.1002/ana.24905. PMC 5413866. PMID 28253535.

Further reading[edit | edit source]


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