VAMP1

VAMP1
Identifiers
Aliases	VAMP1, SPAX1, SYB1, VAMP-1, vesicle associated membrane protein 1, CMS25
External IDs	OMIM: 185880; MGI: 1313276; HomoloGene: 40678; GeneCards: VAMP1; OMA:VAMP1 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	6,470,677 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	125,222,927 bp
RNA expression pattern
	Top expressed in
	pons; ; Brodmann area 23; ; primary visual cortex; ; superior vestibular nucleus; ; lateral nuclear group of thalamus; ; spinal ganglia; ; endothelial cell; ; middle temporal gyrus; ; dorsal motor nucleus of vagus nerve; ; inferior olivary nucleus;
	Top expressed in
	pontine nuclei; ; deep cerebellar nuclei; ; medulla oblongata; ; medial vestibular nucleus; ; anterior horn of spinal cord; ; dorsal tegmental nucleus; ; facial motor nucleus; ; inferior colliculi; ; lateral geniculate nucleus; ; superior colliculus;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	SNAP receptor activity; protein binding; syntaxin binding;
Cellular component	synaptic vesicle membrane; synapse; integral component of membrane; mitochondrion; tertiary granule membrane; azurophil granule membrane; cell junction; integral component of plasma membrane; neuron projection; membrane; cell surface; specific granule membrane; mitochondrial outer membrane; cytoplasmic vesicle membrane; cytoplasmic vesicle; cytosol; SNARE complex; integral component of synaptic vesicle membrane; neuromuscular junction; presynapse; glutamatergic synapse;
Biological process	SNARE complex assembly; vesicle fusion; vesicle-mediated transport; exocytosis; synaptic vesicle priming; regulation of synaptic vesicle fusion to presynaptic active zone membrane;
	Sources:Amigo / QuickGO
Orthologs
	6843
	22317
	ENSG00000139190
	ENSMUSG00000030337
	P23763
	Q62442
	NM_001297438; NM_014231; NM_016830; NM_199245
	NM_001080557; NM_009496
	NP_001284367; NP_055046; NP_058439; NP_954740
	NP_001074026; NP_033522
	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]

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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|alt=Nicotine Activity on Dopaminergic Neurons edit]]

Nicotine Activity on Dopaminergic Neurons edit

^ The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139190 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030337 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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. doi:10.1016/S0021-9258(17)44898-8. PMID 1976629.
^ ^a ^b "Entrez Gene: VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)".
^ 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.

Ravichandran V, Chawla A, Roche PA (June 1996). "Identification of a novel syntaxin- and synaptobrevin/VAMP-binding protein, SNAP-23, expressed in non-neuronal tissues". The Journal of Biological Chemistry. 271 (23): 13300–3. doi:10.1074/jbc.271.23.13300. PMID 8663154.
Jagadish MN, Fernandez CS, Hewish DR, Macaulay SL, Gough KH, Grusovin J, Verkuylen A, Cosgrove L, Alafaci A, Frenkel MJ, Ward CW (August 1996). "Insulin-responsive tissues contain the core complex protein SNAP-25 (synaptosomal-associated protein 25) A and B isoforms in addition to syntaxin 4 and synaptobrevins 1 and 2". The Biochemical Journal. 317. 317 ( Pt 3) (3): 945–54. doi:10.1042/bj3170945. PMC 1217577. PMID 8760387.
Annaert WG, Becker B, Kistner U, Reth M, Jahn R (December 1997). "Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31". The Journal of Cell Biology. 139 (6): 1397–410. doi:10.1083/jcb.139.6.1397. PMC 2132629. PMID 9396746.
Weir ML, Klip A, Trimble WS (July 1998). "Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP". The Biochemical Journal. 333. 333 ( Pt 2) (2): 247–51. doi:10.1042/bj3330247. PMC 1219579. PMID 9657962.
Isenmann S, Khew-Goodall Y, Gamble J, Vadas M, Wattenberg BW (July 1998). "A splice-isoform of vesicle-associated membrane protein-1 (VAMP-1) contains a mitochondrial targeting signal". Molecular Biology of the Cell. 9 (7): 1649–60. doi:10.1091/mbc.9.7.1649. PMC 25402. PMID 9658161.
Nishimura Y, Hayashi M, Inada H, Tanaka T (January 1999). "Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins". Biochemical and Biophysical Research Communications. 254 (1): 21–6. doi:10.1006/bbrc.1998.9876. PMID 9920726.
Berglund L, Hoffmann HJ, Dahl R, Petersen TE (November 1999). "VAMP-1 has a highly variable C-terminus generated by alternative splicing". Biochemical and Biophysical Research Communications. 264 (3): 777–80. doi:10.1006/bbrc.1999.1588. PMID 10544008.
Pérez-Brangulí F, Muhaisen A, Blasi J (June 2002). "Munc 18a binding to syntaxin 1A and 1B isoforms defines its localization at the plasma membrane and blocks SNARE assembly in a three-hybrid system assay". Molecular and Cellular Neurosciences. 20 (2): 169–80. doi:10.1006/mcne.2002.1122. PMID 12093152. S2CID 23927545.
Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai T, Hata J, Toyama Y, Umezawa A (August 2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Experimental Cell Research. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[WikiPathways-8] The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139190 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid1976629-5] 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. doi:10.1016/S0021-9258(17)44898-8. PMID 1976629.

[entrez-6] "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.

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[§ 1]

Function

Clinical significance

Interactive pathway map

References

Further reading