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Protein-coding gene in the species Homo sapiens

SYT1

SYT1
All data from the card 18
Aliases
SYT1, P65, SVP65, SYT, synaptotagmin 1, BAGOS
External IDs
OMIM: 185605; MGI: 99667; GeneCards: SYT1
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 12 (human)
Band
12q21.2
End
79,452,008 bp
Chr.
Chromosome 10 (mouse)
Band
10 D1|10 56.52 cM
End
108,846,843 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
6857
Ensembl
ENSG00000067715
UniProt
P21579
RefSeq (mRNA)
NM_001135805NM_001135806NM_001291901NM_005639
RefSeq (protein)
NP_001129277NP_001129278NP_001278830NP_005630
Location (UCSC)
Chr 12: 78.86 – 79.45 Mb

Synaptotagmin-1 is a protein that in humans is encoded by the SYT1 gene.

Function

Synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as sensors for calcium ions (Ca2+) in the process of vesicular trafficking and exocytosis. Calcium ion binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse. [Supplied by OMIM]

SYT1 is the master switch responsible for allowing the human brain to release neurotransmitters. SYT1 senses calcium ion concentrations as low as 10 ppm and subsequently signals the SNARE complex to open fusion pores.

Interactions

SYT1 has been shown to interact with SNAP-25, STX1A and S100A13.

Clinical Significance

Mutations in the SYT1 gene cause a rare neurodevelopmental disorder known as SYT1-associated neurodevelopmental disorder (or Baker-Gordon Syndrome).

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Text from Wikipedia, CC BY-SA 4.0 · Source article