VAMP1

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
VAMP1
Protein VAMP1 PDB 1kil.png
Identifiers
AliasesVAMP1, SPAX1, SYB1, VAMP-1, vesicle associated membrane protein 1, CMS25
External IDsOMIM: 185880 MGI: 1313276 HomoloGene: 40678 GeneCards: VAMP1
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for VAMP1
Genomic location for VAMP1
Band12p13.31Start6,462,237 bp[1]
End6,470,987 bp[1]
RNA expression pattern
PBB GE VAMP1 207101 at fs.png

PBB GE VAMP1 207100 s at fs.png

PBB GE VAMP1 213326 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001297438
NM_014231
NM_016830
NM_199245

NM_001080557
NM_009496

RefSeq (protein)

NP_001284367
NP_055046
NP_058439
NP_954740

NP_001074026
NP_033522

Location (UCSC)Chr 12: 6.46 – 6.47 MbChr 6: 125.22 – 125.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Vesicle-associated membrane protein 1 is a protein that in humans is encoded by the VAMP1 gene.[5][6]

Function[edit]

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.[6]

Clinical significance[edit]

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.[7]

Interactive pathway map[edit]

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

[[File:
NicotineDopaminergic_WP1602go to articlego to articlego to articleGo to articlego to articleGo to articleGo to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articleGo to articlego to articlego to articlego to articlego to articleGo to articleGo to articlego to articleGo to articleGo to articleGo to articlego to articleGo to articleGo to articleGo to articlego to articlego to articlego to articlego to articlego to articlego to articleGo to articlego to articleGo to articleGo to articlego to articlego to articleGo to articlego to articleGo to articleGo to articlego to article
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
NicotineDopaminergic_WP1602go to articlego to articlego to articleGo to articlego to articleGo to articleGo to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articleGo to articlego to articlego to articlego to articlego to articleGo to articleGo to articlego to articleGo to articleGo to articleGo to articlego to articleGo to articleGo to articleGo to articlego to articlego to articlego to articlego to articlego to articlego to articleGo to articlego to articleGo to articleGo to articlego to articlego to articleGo to articlego to articleGo to articleGo to articlego to article
|{{{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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139190 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030337 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)".
  7. ^ 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]