Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6857
Gene name	Synaptotagmin 1
Gene symbol	SYT1
Synonyms (NCBI Gene)	BAGOSP65SVP65SYT
Chromosome	12
Chromosome location	12q21.2
Summary	The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144900171	C>G,T	Likely-benign, likely-pathogenic, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1135402761	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555226395	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565922388	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1565922395	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1565962725	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1593076474	->AGA	Likely-pathogenic	Coding sequence variant, inframe insertion

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT017696	hsa-miR-335-5p	Microarray	18185580
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608796	hsa-miR-8064	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	24906430
MIRT608796	hsa-miR-8064	HITS-CLIP	24906430
MIRT608796	hsa-miR-8064	HITS-CLIP	27418678
MIRT608796	hsa-miR-8064	HITS-CLIP	27418678
MIRT608797	hsa-miR-8485	HITS-CLIP	27418678
MIRT608797	hsa-miR-8485	HITS-CLIP	27418678
MIRT732846	hsa-miR-34c-5p	FACSImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotting	32092796
MIRT735901	hsa-miR-449a	MicroarrayqRT-PCR	31788082
MIRT006304	hsa-miR-34a-5p	MicroarrayqRT-PCR	31788082
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608796	hsa-miR-8064	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT1407234	hsa-miR-1228	CLIP-seq
MIRT1407235	hsa-miR-1265	CLIP-seq
MIRT1407236	hsa-miR-1273e	CLIP-seq
MIRT1407237	hsa-miR-128	CLIP-seq
MIRT1407238	hsa-miR-1299	CLIP-seq
MIRT1407239	hsa-miR-148a	CLIP-seq
MIRT1407240	hsa-miR-148b	CLIP-seq
MIRT1407241	hsa-miR-152	CLIP-seq
MIRT1407242	hsa-miR-19a	CLIP-seq
MIRT1407243	hsa-miR-19b	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT1407245	hsa-miR-208a	CLIP-seq
MIRT1407246	hsa-miR-208b	CLIP-seq
MIRT1407247	hsa-miR-2113	CLIP-seq
MIRT1407248	hsa-miR-25	CLIP-seq
MIRT1407249	hsa-miR-27a	CLIP-seq
MIRT1407250	hsa-miR-27b	CLIP-seq
MIRT1407251	hsa-miR-3189-3p	CLIP-seq
MIRT1407252	hsa-miR-32	CLIP-seq
MIRT1407253	hsa-miR-325	CLIP-seq
MIRT1407254	hsa-miR-329	CLIP-seq
MIRT1407255	hsa-miR-34a	CLIP-seq
MIRT1407256	hsa-miR-362-3p	CLIP-seq
MIRT1407257	hsa-miR-363	CLIP-seq
MIRT1407258	hsa-miR-3658	CLIP-seq
MIRT1407259	hsa-miR-367	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT1407261	hsa-miR-3688-3p	CLIP-seq
MIRT1407262	hsa-miR-3691-3p	CLIP-seq
MIRT1407263	hsa-miR-3923	CLIP-seq
MIRT1407264	hsa-miR-3941	CLIP-seq
MIRT1407265	hsa-miR-4432	CLIP-seq
MIRT1407266	hsa-miR-449b	CLIP-seq
MIRT1407267	hsa-miR-4680-3p	CLIP-seq
MIRT1407268	hsa-miR-4729	CLIP-seq
MIRT1407269	hsa-miR-499-5p	CLIP-seq
MIRT1407270	hsa-miR-513a-3p	CLIP-seq
MIRT1407271	hsa-miR-513a-5p	CLIP-seq
MIRT1407272	hsa-miR-520f	CLIP-seq
MIRT1407273	hsa-miR-603	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT1407275	hsa-miR-616	CLIP-seq
MIRT1407276	hsa-miR-633	CLIP-seq
MIRT1407277	hsa-miR-635	CLIP-seq
MIRT1407278	hsa-miR-636	CLIP-seq
MIRT1407279	hsa-miR-875-3p	CLIP-seq
MIRT1407280	hsa-miR-92a	CLIP-seq
MIRT1407281	hsa-miR-92b	CLIP-seq
MIRT1407282	hsa-miR-936	CLIP-seq
MIRT1407237	hsa-miR-128	CLIP-seq
MIRT1407283	hsa-miR-1910	CLIP-seq
MIRT1407284	hsa-miR-2054	CLIP-seq
MIRT1407285	hsa-miR-224	CLIP-seq
MIRT1407286	hsa-miR-2278	CLIP-seq
MIRT1407249	hsa-miR-27a	CLIP-seq
MIRT1407250	hsa-miR-27b	CLIP-seq
MIRT1407287	hsa-miR-337-3p	CLIP-seq
MIRT1407288	hsa-miR-361-5p	CLIP-seq
MIRT1407289	hsa-miR-369-3p	CLIP-seq
MIRT1407290	hsa-miR-374a	CLIP-seq
MIRT1407291	hsa-miR-374b	CLIP-seq
MIRT1407264	hsa-miR-3941	CLIP-seq
MIRT1407292	hsa-miR-4274	CLIP-seq
MIRT1407293	hsa-miR-4469	CLIP-seq
MIRT1407294	hsa-miR-4517	CLIP-seq
MIRT1407295	hsa-miR-466	CLIP-seq
MIRT1407296	hsa-miR-4672	CLIP-seq
MIRT1407297	hsa-miR-4676-5p	CLIP-seq
MIRT1407298	hsa-miR-4704-3p	CLIP-seq
MIRT1407299	hsa-miR-575	CLIP-seq
MIRT1407300	hsa-miR-642a	CLIP-seq
MIRT1407301	hsa-miR-656	CLIP-seq
MIRT1407302	hsa-miR-200b	CLIP-seq
MIRT1407303	hsa-miR-200c	CLIP-seq
MIRT1407286	hsa-miR-2278	CLIP-seq
MIRT1407304	hsa-miR-429	CLIP-seq
MIRT1407305	hsa-miR-4711-5p	CLIP-seq
MIRT1407306	hsa-miR-518d-5p	CLIP-seq
MIRT1407307	hsa-miR-519b-5p	CLIP-seq
MIRT1407308	hsa-miR-519c-5p	CLIP-seq
MIRT1407309	hsa-miR-520c-5p	CLIP-seq
MIRT1407310	hsa-miR-526a	CLIP-seq
MIRT1407311	hsa-miR-576-5p	CLIP-seq
MIRT2122062	hsa-miR-3154	CLIP-seq
MIRT2122063	hsa-miR-129-3p	CLIP-seq
MIRT1407302	hsa-miR-200b	CLIP-seq
MIRT1407303	hsa-miR-200c	CLIP-seq
MIRT2122064	hsa-miR-2052	CLIP-seq
MIRT1407247	hsa-miR-2113	CLIP-seq
MIRT2122065	hsa-miR-2115	CLIP-seq
MIRT1407249	hsa-miR-27a	CLIP-seq
MIRT1407250	hsa-miR-27b	CLIP-seq
MIRT2122062	hsa-miR-3154	CLIP-seq
MIRT1407287	hsa-miR-337-3p	CLIP-seq
MIRT2122066	hsa-miR-338-5p	CLIP-seq
MIRT2122067	hsa-miR-340	CLIP-seq
MIRT2122068	hsa-miR-34c-3p	CLIP-seq
MIRT1407288	hsa-miR-361-5p	CLIP-seq
MIRT2122069	hsa-miR-362-5p	CLIP-seq
MIRT1407258	hsa-miR-3658	CLIP-seq
MIRT2122070	hsa-miR-3662	CLIP-seq
MIRT2122071	hsa-miR-3669	CLIP-seq
MIRT1407289	hsa-miR-369-3p	CLIP-seq
MIRT1407290	hsa-miR-374a	CLIP-seq
MIRT1407291	hsa-miR-374b	CLIP-seq
MIRT2122072	hsa-miR-376c	CLIP-seq
MIRT1407263	hsa-miR-3923	CLIP-seq
MIRT2122073	hsa-miR-4264	CLIP-seq
MIRT1407304	hsa-miR-429	CLIP-seq
MIRT2122074	hsa-miR-4452	CLIP-seq
MIRT2122075	hsa-miR-4474-3p	CLIP-seq
MIRT2122076	hsa-miR-4496	CLIP-seq
MIRT2122077	hsa-miR-4658	CLIP-seq
MIRT1407295	hsa-miR-466	CLIP-seq
MIRT2122078	hsa-miR-4666-3p	CLIP-seq
MIRT2122079	hsa-miR-4668-5p	CLIP-seq
MIRT2122080	hsa-miR-4690-3p	CLIP-seq
MIRT1407298	hsa-miR-4704-3p	CLIP-seq
MIRT2122081	hsa-miR-4727-3p	CLIP-seq
MIRT2122082	hsa-miR-4753-3p	CLIP-seq
MIRT2122083	hsa-miR-4758-5p	CLIP-seq
MIRT2122084	hsa-miR-4789-3p	CLIP-seq
MIRT2122085	hsa-miR-4796-5p	CLIP-seq
MIRT2122086	hsa-miR-4797-3p	CLIP-seq
MIRT2122087	hsa-miR-500b	CLIP-seq
MIRT2122088	hsa-miR-501-5p	CLIP-seq
MIRT2122089	hsa-miR-502-5p	CLIP-seq
MIRT2122090	hsa-miR-516a-3p	CLIP-seq
MIRT2122091	hsa-miR-654-3p	CLIP-seq
MIRT1407301	hsa-miR-656	CLIP-seq
MIRT1407236	hsa-miR-1273e	CLIP-seq
MIRT2122078	hsa-miR-4666-3p	CLIP-seq
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT2461012	hsa-miR-1287	CLIP-seq
MIRT2461013	hsa-miR-129-5p	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT2461014	hsa-miR-219-1-3p	CLIP-seq
MIRT2461015	hsa-miR-3135b	CLIP-seq
MIRT2461016	hsa-miR-3145-3p	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT2461012	hsa-miR-1287	CLIP-seq
MIRT2461013	hsa-miR-129-5p	CLIP-seq
MIRT2637859	hsa-miR-153	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT2461014	hsa-miR-219-1-3p	CLIP-seq
MIRT2637860	hsa-miR-219-2-3p	CLIP-seq
MIRT2637861	hsa-miR-2355-3p	CLIP-seq
MIRT2637862	hsa-miR-2964a-3p	CLIP-seq
MIRT2461015	hsa-miR-3135b	CLIP-seq
MIRT2461016	hsa-miR-3145-3p	CLIP-seq
MIRT2637863	hsa-miR-3613-3p	CLIP-seq
MIRT2637864	hsa-miR-3646	CLIP-seq
MIRT2122070	hsa-miR-3662	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT2637865	hsa-miR-3924	CLIP-seq
MIRT2637866	hsa-miR-4259	CLIP-seq
MIRT2637867	hsa-miR-4277	CLIP-seq
MIRT2637868	hsa-miR-4282	CLIP-seq
MIRT2637869	hsa-miR-4427	CLIP-seq
MIRT1407267	hsa-miR-4680-3p	CLIP-seq
MIRT2637870	hsa-miR-4698	CLIP-seq
MIRT2637871	hsa-miR-4715-5p	CLIP-seq
MIRT2637872	hsa-miR-493	CLIP-seq
MIRT2637873	hsa-miR-494	CLIP-seq
MIRT2122089	hsa-miR-502-5p	CLIP-seq
MIRT2637874	hsa-miR-548ag	CLIP-seq
MIRT2637875	hsa-miR-548ai	CLIP-seq
MIRT2637876	hsa-miR-586	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT2637877	hsa-miR-676	CLIP-seq
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT2461012	hsa-miR-1287	CLIP-seq
MIRT2461013	hsa-miR-129-5p	CLIP-seq
MIRT2692540	hsa-miR-1302	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT2461014	hsa-miR-219-1-3p	CLIP-seq
MIRT2461015	hsa-miR-3135b	CLIP-seq
MIRT2461016	hsa-miR-3145-3p	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT2692541	hsa-miR-3929	CLIP-seq
MIRT2692542	hsa-miR-4298	CLIP-seq
MIRT2692543	hsa-miR-4302	CLIP-seq
MIRT2692544	hsa-miR-4419b	CLIP-seq
MIRT2692545	hsa-miR-4478	CLIP-seq
MIRT2692546	hsa-miR-4648	CLIP-seq
MIRT2692547	hsa-miR-4654	CLIP-seq
MIRT2692548	hsa-miR-4769-5p	CLIP-seq
MIRT2122089	hsa-miR-502-5p	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT2692549	hsa-miR-938	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IEA
GO:0000149	Function	SNARE binding	ISS
GO:0001786	Function	Phosphatidylserine binding	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005513	Process	Detection of calcium ion	IEA
GO:0005513	Process	Detection of calcium ion	TAS	11438518
GO:0005515	Function	Protein binding	IPI	16525042, 19234194, 19284995, 20098747, 28298427, 28514442, 32296183, 33961781
GO:0005516	Function	Calmodulin binding	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005544	Function	Calcium-dependent phospholipid binding	IBA
GO:0005544	Function	Calcium-dependent phospholipid binding	IEA
GO:0005544	Function	Calcium-dependent phospholipid binding	ISS
GO:0005544	Function	Calcium-dependent phospholipid binding	TAS	12526776
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005737	Component	Cytoplasm	IDA	24327345
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006906	Process	Vesicle fusion	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	1840599
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007269	Process	Neurotransmitter secretion	TAS	11438518
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	TAS	11438518
GO:0008289	Function	Lipid binding	EXP	27191789
GO:0008289	Function	Lipid binding	IDA	27191789
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016050	Process	Vesicle organization	IDA	27191789
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017075	Function	Syntaxin-1 binding	ISS
GO:0017157	Process	Regulation of exocytosis	TAS	11438518
GO:0017158	Process	Regulation of calcium ion-dependent exocytosis	IBA
GO:0017158	Process	Regulation of calcium ion-dependent exocytosis	IEA
GO:0019905	Function	Syntaxin binding	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0030348	Function	Syntaxin-3 binding	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031045	Component	Dense core granule	IBA
GO:0031045	Component	Dense core granule	IEA
GO:0031338	Process	Regulation of vesicle fusion	IEA
GO:0031340	Process	Positive regulation of vesicle fusion	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033603	Process	Positive regulation of dopamine secretion	IEA
GO:0042584	Component	Chromaffin granule membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0044306	Component	Neuron projection terminus	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048278	Process	Vesicle docking	IEA
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048791	Process	Calcium ion-regulated exocytosis of neurotransmitter	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IDA	15082773
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060076	Component	Excitatory synapse	IEA
GO:0060201	Component	Clathrin-sculpted acetylcholine transport vesicle membrane	TAS
GO:0060203	Component	Clathrin-sculpted glutamate transport vesicle membrane	TAS
GO:0061202	Component	Clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS
GO:0061669	Process	Spontaneous neurotransmitter secretion	IEA
GO:0061891	Function	Calcium ion sensor activity	IBA
GO:0061891	Function	Calcium ion sensor activity	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	TAS
GO:0070382	Component	Exocytic vesicle	IBA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071911	Process	Synchronous neurotransmitter secretion	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098746	Process	Fast, calcium ion-dependent exocytosis of neurotransmitter	IEA
GO:0098746	Process	Fast, calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099502	Process	Calcium-dependent activation of synaptic vesicle fusion	IBA
GO:0099502	Process	Calcium-dependent activation of synaptic vesicle fusion	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IEA
GO:0140694	Process	Membraneless organelle assembly	IEA
GO:1903235	Process	Positive regulation of calcium ion-dependent exocytosis of neurotransmitter	IEA
GO:1903235	Process	Positive regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1903305	Process	Regulation of regulated secretory pathway	IEA
GO:1903305	Process	Regulation of regulated secretory pathway	ISS
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

MIM	HGNC	e!Ensembl
185605	11509	ENSG00000067715

P21579

Protein name

Synaptotagmin-1 (Synaptotagmin I) (SytI) (p65)

Protein 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 similar

PDB

2K45 , 2K4A , 2K8M , 2KI6 , 2LHA , 2N1T , 2R83 , 3F00 , 3F01 , 3F04 , 3F05 , 4ISQ , 4V11 , 6G5F , 6G5K , 6QNS , 6TZ3 , 6U41 , 6U4U , 6U4W , 6ZVN , 7TUA , 7U4Q , 8B8I

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	157 → 263	C2 domain	Domain
PF00168	C2	288 → 394	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003}.

Sequence

MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWA
LIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALK
DDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGIIQAAELPALDMGGTSDP
YVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI
IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNL
KKMDVGGLSDPYVKIHLMQNGKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVV
TVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIAQWHTLQVEEEVDAMLAV
KK

Sequence length

422

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle		Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Glutamate Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Acetylcholine Neurotransmitter Release Cycle Toxicity of botulinum toxin type B (BoNT/B) Toxicity of botulinum toxin type G (BoNT/G) Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis GABA synthesis, release, reuptake and degradation

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	Pathogenic; Likely pathogenic	rs1377017458, rs2136007608, rs2136007588, rs2547785983, rs2547708515, rs2547658386, rs1135402761, rs1565922388, rs1565922395, rs1565962725, rs144900171, rs1593076474	RCV001788529 RCV001724785 RCV002246756 RCV002283762 RCV002289190 RCV002510484 RCV000735268 RCV000735271 RCV000735272 RCV000735269 RCV000735270 RCV001027965
Neurodevelopmental disorder	Likely pathogenic	rs2138866856	RCV001375033
Syndromic intellectual disability	Pathogenic	rs1565962725	RCV001254686
SYT1-associated neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1135402761, rs1565922388, rs1565922395, rs1565962725, rs144900171	RCV000721124 RCV000721122 RCV000721123 RCV000721125 RCV000721126

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs151296432	RCV005931116
Familial cancer of breast	Likely benign	rs151296432	RCV005931115
Lung cancer	Likely benign	rs151296432	RCV005931119
Malignant tumor of esophagus	Likely benign	rs151296432	RCV005931117
Ovarian serous cystadenocarcinoma	Likely benign	rs151296432	RCV005931118
SYT1-related disorder	Benign; Likely benign; Uncertain significance	rs12812916, rs2272500, rs757992677, rs146053442, rs370573414, rs745632757, rs56012845, rs34404568	RCV003975957 RCV003984117 RCV003909227 RCV003923992 RCV003981548 RCV003914624 RCV003970806 RCV003928557
Uterine corpus endometrial carcinoma	Likely benign	rs151296432	RCV005931120

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21333201, 35101335
Adenocarcinoma of Lung	Associate	35627270
Alzheimer Disease	Associate	30342961
Alzheimer Disease	Inhibit	32483284, 32776690
Antisocial Personality Disorder	Associate	31059723
Attention Deficit Disorder with Hyperactivity	Associate	31059723, 31562556
Brain Ischemia	Associate	35257887
Calcium Metabolism Disorders	Associate	21102408
Carcinogenesis	Stimulate	21996728
Chronic Traumatic Encephalopathy	Inhibit	32483284
Cocaine Related Disorders	Associate	31059723, 31562556
Cognition Disorders	Associate	31562556, 32776690
Cognitive Dysfunction	Associate	22310934
Colorectal Neoplasms	Associate	36160034
Communication Disorders	Associate	35101335
Cutaneous Fistula	Associate	31059723
Developmental Disabilities	Associate	35101335
Eye Abnormalities	Associate	35101335
Hyperglycemic Hyperosmolar Nonketotic Coma	Stimulate	35981264
Intellectual Disability	Associate	35101335
Liposarcoma	Associate	24505276
Mental Disorders	Associate	35101335
Migraine Disorders	Associate	34126933
Mood Disorders	Associate	35101335
Movement Disorders	Associate	35101335
Neoplasm Metastasis	Associate	19385976, 20109354, 9428816
Neoplasms	Associate	10879732, 15641030, 15679430, 19385976, 21996728, 26250366, 26250552, 37208644, 9428816
Nerve Degeneration	Associate	35257887
Pleural Diseases	Associate	25948355
Sarcoma	Associate	25300797, 26250552
Sarcoma Synovial	Associate	10229776, 10685642, 10879732, 10889911, 11308259, 11734557, 11826189, 12218218, 12414507, 12683902, 15147271, 15467731, 15641030, 15679430, 16056249 View all (34 more)
Sleep Wake Disorders	Associate	35101335
Squamous Cell Carcinoma of Head and Neck	Associate	31698994
Stomach Diseases	Associate	23021509
Thyroid Cancer Papillary	Associate	29117154

SYT1 (synaptotagmin 1)