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MGP003032

UniProt Annotations

Entry Information
Gene Namevesicle-associated membrane protein 1 (synaptobrevin 1)
Protein EntryVAMP1_HUMAN
UniProt IDP23763
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=VAMP-1A; IsoId=P23763-1; Sequence=Displayed; Name=2; IsoId=P23763-3; Sequence=VSP_029185; Name=3; Synonyms=VAMP-1B; IsoId=P23763-2; Sequence=VSP_006325;
DiseaseSpastic ataxia 1, autosomal dominant (SPAX1) [MIM:108600]: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. {ECO:0000269|PubMed:22958904}. Note=The disease is caused by mutations affecting the gene represented in this entry. A mutation affecting a critical donor site for the splicing of VAMP1 isoforms leads to the loss of neuron-specific isoform 1 and subsequently results in haploinsufficiency (PubMed:22958904). Therefore, there would be less neurotransmitter exocytosis in specific regions of the brain, causing the symptoms of SPAX1. {ECO:0000303|PubMed:22958904}.
FunctionInvolved in the targeting and/or fusion of transport vesicles to their target membrane.
SimilarityBelongs to the synaptobrevin family. {ECO:0000305}.
SimilarityContains 1 v-SNARE coiled-coil homology domain. {ECO:0000255|PROSITE-ProRule:PRU00290}.
Subcellular LocationIsoform 1: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}.
Subcellular LocationIsoform 2: Cytoplasmic vesicle membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}.
Subcellular LocationIsoform 3: Mitochondrion outer membrane; Single-pass type IV membrane protein.
SubunitInteracts with VAPA and VAPB.
Tissue SpecificityNervous system, skeletal muscle and adipose tissue.
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