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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alias
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SYB1
VAMP-1
vesicle-associated membrane protein 1
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gptkbp:alternativeName
|
gptkb:synaptobrevin-1
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gptkbp:associatedWith
|
gptkb:congenital_myasthenic_syndrome
congenital myasthenic syndrome 25 (CMS25)
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gptkbp:biologicalProcess
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protein binding
synaptic vesicle exocytosis
SNARE binding
neurotransmitter secretion
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gptkbp:cellularComponent
|
synaptic vesicle membrane
presynaptic active zone membrane
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gptkbp:discoveredBy
|
Südhof et al.
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gptkbp:encodes
|
VAMP1 protein
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gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000139190
6843
|
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gptkbp:expressedIn
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gptkb:spinal_cord
brain
high in nervous system
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gptkbp:firstDescribed
|
1990
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gptkbp:fullName
|
vesicle-associated membrane protein 1
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gptkbp:function
|
involved in synaptic vesicle fusion
mediates neurotransmitter release
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gptkbp:geneType
|
protein-coding
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gptkbp:HGNC_ID
|
12647
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|
https://www.w3.org/2000/01/rdf-schema#label
|
VAMP1 gene
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gptkbp:interactsWith
|
gptkb:SNAP25
gptkb:syntaxin-1
synaptophysin
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gptkbp:length
|
118 amino acids (VAMP1 protein)
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gptkbp:locatedOnChromosome
|
gptkb:12p13.31
gptkb:chromosome_12
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gptkbp:mutationAssociatedWith
|
can cause neuromuscular disorders
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gptkbp:OMIM
|
185880
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gptkbp:organism
|
gptkb:Homo_sapiens
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gptkbp:orthologIn
|
Drosophila n-syb
mouse VAMP1
rat VAMP1
zebrafish vamp1
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gptkbp:pathway
|
gptkb:synaptic_vesicle_cycle
neurotransmitter release cycle
|
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gptkbp:proteinFamily
|
gptkb:SNARE_family
transmembrane domain
SNARE motif
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gptkbp:RefSeq
|
gptkb:NM_014231
|
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gptkbp:significance
|
mutations cause neuromuscular transmission defects
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gptkbp:UniProtID
|
gptkb:P23763
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gptkbp:bfsParent
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gptkb:VAMP1
gptkb:synaptobrevin
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gptkbp:bfsLayer
|
7
|