VAMP1

Last updated
VAMP1
Protein VAMP1 PDB 1kil.png
Identifiers
Aliases VAMP1 , SPAX1, SYB1, VAMP-1, vesicle associated membrane protein 1, CMS25
External IDs OMIM: 185880 MGI: 1313276 HomoloGene: 40678 GeneCards: VAMP1
Gene location (Human)
Ideogram human chromosome 12.svg
Chr. Chromosome 12 (human) [1]
Human chromosome 12 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 12p13.31Start6,462,237 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 Mb Chr 6: 125.22 – 125.25 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

Function

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

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

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

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Nicotine Activity on Dopaminergic Neurons edit
  1. The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".

Related Research Articles

SNARE (protein)

SNARE proteins – "SNAPREceptor" – are a large protein family consisting of at least 24 members in yeasts and more than 60 members in mammalian cells. The primary role of SNARE proteins is to mediate vesicle fusion – the fusion of vesicles with the target membrane; this notably mediates exocytosis, but can also mediate the fusion of vesicles with membrane-bound compartments. The best studied SNAREs are those that mediate the neurotransmitter release of synaptic vesicles in neurons. These neuronal SNAREs are the targets of the neurotoxins responsible for botulism and tetanus produced by certain bacteria.

SNAP25

Synaptosomal-Associated Protein, 25kDa (SNAP-25) is a Target Soluble NSF Attachment Protein Receptor (t-SNARE) protein encoded by the SNAP25 gene found on chromosome 20p12.2 in humans. SNAP-25 is a component of the trans-SNARE complex, which accounts for membrane fusion specificity and directly executes fusion by forming a tight complex that brings the synaptic vesicle and plasma membranes together.

STX1A

Syntaxin-1A is a protein that in humans is encoded by the STX1A gene.

SNAP23

Synaptosomal-associated protein 23 is a protein that in humans is encoded by the SNAP23 gene. Two alternative transcript variants encoding different protein isoforms have been described for this gene.

STX4

Syntaxin-4 is a protein that in humans is encoded by the STX4 gene.

VAMP2

Vesicle-associated membrane protein 2 (VAMP2) is a protein that in humans is encoded by the VAMP2 gene.

STXBP1

Syntaxin-binding protein 1 is a protein that in humans is encoded by the STXBP1 gene. This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4.

SYBL1

Synaptobrevin-like protein 1 (SYBL1), also known as vesicle-associated membrane protein 7 (VAMP7), is a protein that in humans is encoded by the VAMP7, or SYBL1, gene.

STX6

Syntaxin-6 is a protein that in humans is encoded by the STX6 gene.

VAMP3

Vesicle-associated membrane protein 3 is a protein that in humans is encoded by the VAMP3 gene.

STX5

Syntaxin-5 is a protein that in humans is encoded by the STX5 gene.

STX2

Syntaxin-2, also known as epimorphin, is a protein that in humans is encoded by the STX2 gene.

Vesicle-associated membrane protein 8

Vesicle-associated membrane protein 8 is a protein that in humans is encoded by the VAMP8 gene.

VAMP4

Vesicle-associated membrane protein 4 is a protein that in humans is encoded by the VAMP4 gene.

STXBP5

Syntaxin-binding protein 5 is a protein that in humans is encoded by the STXBP5 gene. It is also known as tomosyn, after 友, "friend" in Japanese, for its role as a binding protein.

Vesicle-associated membrane protein 5 also known as VAMP5 is a human gene which encodes a member of the synaptobrevin protein family.

Syntaxin 3

Syntaxin 3, also known as STX3, is a protein which in humans is encoded by the STX3 gene.

Syntaxin

Syntaxins are a family of membrane integrated Q-SNARE proteins participating in exocytosis.

STX10

Syntaxin-10 (STX10) is a SNARE protein that is encoded by the STX10 gene. This protein is found in most vertebrates but is noticeably absent from mice. As with other SNARE proteins, STX10 facilitates vesicle fusion and thus is important for intracellular trafficking of proteins and other cellular components. More specifically, STX10 has been implicated in endosome to Golgi trafficking of the mannose 6-phosphate receptor and glucose transporter type 4.

Syntaphilin

Syntaphilin is a protein that in humans is encoded by the SNPH gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000139190 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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