SYT1
entrez
6857
canonical
uniprot
P21579
canonical
ensembl
ENSG00000067715
resolver
ensp
ENSP00000261205
resolver
ensp
ENSP00000376932
resolver
ensp
ENSP00000391056
resolver
ensp
ENSP00000447575
resolver
ensp
ENSP00000515993
resolver
ensp
ENSP00000515996
resolver
ensp
ENSP00000515997
resolver
ensp
ENSP00000515999
resolver
ensp
ENSP00000516001
resolver
ensp
ENSP00000516002
resolver
ensp
ENSP00000516003
resolver
ensp
ENSP00000516005
resolver
ensp
ENSP00000516006
resolver
ensp
ENSP00000516007
resolver
ensp
ENSP00000516009
resolver
ensp
ENSP00000516011
resolver
ensp
ENSP00000516013
resolver
ensp
ENSP00000573780
resolver
ensp
ENSP00000573781
resolver
ensp
ENSP00000573783
resolver
ensp
ENSP00000573784
resolver
ensp
ENSP00000588255
resolver
ensp
ENSP00000588256
resolver
ensp
ENSP00000588257
resolver
ensp
ENSP00000588259
resolver
ensp
ENSP00000588260
resolver
ensp
ENSP00000619181
resolver
ensp
ENSP00000619182
resolver
ensp
ENSP00000619183
resolver
enst
ENST00000261205
resolver
enst
ENST00000393240
resolver
enst
ENST00000457153
resolver
enst
ENST00000552744
resolver
enst
ENST00000704696
resolver
enst
ENST00000704699
resolver
enst
ENST00000704700
resolver
enst
ENST00000704702
resolver
enst
ENST00000704704
resolver
enst
ENST00000704705
resolver
enst
ENST00000704706
resolver
enst
ENST00000704708
resolver
enst
ENST00000704709
resolver
enst
ENST00000704710
resolver
enst
ENST00000704714
resolver
enst
ENST00000704716
resolver
enst
ENST00000704718
resolver
enst
ENST00000903722
resolver
enst
ENST00000903724
resolver
enst
ENST00000903725
resolver
enst
ENST00000918196
resolver
enst
ENST00000918197
resolver
enst
ENST00000918198
resolver
enst
ENST00000918200
resolver
enst
ENST00000918201
resolver
enst
ENST00000949122
resolver
enst
ENST00000949123
resolver
enst
ENST00000949124
resolver
genesymbol
SYT1
resolver
genesymbol_syn
SVP65
resolver
genesymbol_syn
SYT
resolver
hgnc
HGNC:11509
resolver
uniprot
J3KQA0
resolver
uniprot
Q6AI31
resolver
uniprot_entry
J3KQA0_HUMAN
resolver
uniprot_entry
SYT1_HUMAN
resolver
uniprot_sec
Q6AI31
resolver
amino_acid_sequence
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIAQWHTLQVEEEVDAMLAVKK
uniprot
proteins
disease_involvement
DISEASE: Baker-Gordon syndrome (BAGOS) [MIM:618218]: An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation. {ECO:0000269|PubMed:25705886, ECO:0000269|PubMed:25712080, ECO:0000269|PubMed:30107533}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium sensor that participates in triggering neurotransmitter release at the synapse (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000250|UniProtKB:P46096, ECO:0000269|PubMed:23999003}.
uniprot
proteins
mass_dalton
47573
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:P21707}.
uniprot
proteins
protein_family
Synaptotagmin family
uniprot
proteins
pubmed
11381094
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
1840599
uniprot
proteins
pubmed
19234194
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23999003
uniprot
proteins
pubmed
25705886
uniprot
proteins
pubmed
25712080
uniprot
proteins
pubmed
30107533
uniprot
proteins
sequence_length
422
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:P21707}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P21707}; Single-pass membrane protein {ECO:0000250|UniProtKB:P21707}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000250|UniProtKB:P21707}; Single-pass membrane protein {ECO:0000250|UniProtKB:P21707}. Cytoplasm {ECO:0000250|UniProtKB:P21707}.
uniprot
proteins
transmembrane_region
TRANSMEM 58..80; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins