SYT1 (synaptotagmin 1)

2007-04-01 Affiliation

Identity

HGNC

SYT1

LOCATION

12q21.2

LOCUSID

6857

ALIAS

BAGOS,P65,SVP65,SYT

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6857
MIM: 185605
HGNC: 11509
Ensembl: ENSG00000067715

Variants:

dbSNP: 6857
ClinVar: 6857
TCGA: ENSG00000067715
COSMIC: SYT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000067715	ENST00000261205	P21579
ENSG00000067715	ENST00000261205	A0A024RBE9
ENSG00000067715	ENST00000393240	P21579
ENSG00000067715	ENST00000393240	A0A024RBE9
ENSG00000067715	ENST00000446242	C9JX50
ENSG00000067715	ENST00000457153	J3KQA0
ENSG00000067715	ENST00000547046	F8VYH8
ENSG00000067715	ENST00000549671	F8VZY3
ENSG00000067715	ENST00000551304	F8VZY3
ENSG00000067715	ENST00000552074	F8W1U9
ENSG00000067715	ENST00000552624	F8VXH0
ENSG00000067715	ENST00000552744	P21579
ENSG00000067715	ENST00000552744	A0A024RBE9

Expression (GTEx)

100

150

200

250

300

350

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
Norepinephrine Neurotransmitter Release Cycle	REACTOME	R-HSA-181430
Serotonin Neurotransmitter Release Cycle	REACTOME	R-HSA-181429
Glutamate Neurotransmitter Release Cycle	REACTOME	R-HSA-210500
Dopamine Neurotransmitter Release Cycle	REACTOME	R-HSA-212676
Acetylcholine Neurotransmitter Release Cycle	REACTOME	R-HSA-264642
GABA synthesis, release, reuptake and degradation	REACTOME	R-HSA-888590
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
Uptake and actions of bacterial toxins	REACTOME	R-HSA-5339562
Neurotoxicity of clostridium toxins	REACTOME	R-HSA-168799
Toxicity of botulinum toxin type B (BoNT/B)	REACTOME	R-HSA-5250958
Toxicity of botulinum toxin type G (BoNT/G)	REACTOME	R-HSA-5250989
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Protein-protein interactions at synapses	REACTOME	R-HSA-6794362
Interactions of neurexins and neuroligins at synapses	REACTOME	R-HSA-6794361
Clathrin-mediated endocytosis	REACTOME	R-HSA-8856828
Cargo recognition for clathrin-mediated endocytosis	REACTOME	R-HSA-8856825

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA446878	Cocaine-Related Disorders	Disease	ClinicalAnnotation	associated		PD	31059723
PA449072	cocaine	Chemical	ClinicalAnnotation	associated		PD	31059723

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
27065097	2016	Control of plasma membrane lipid homeostasis by the extended synaptotagmins.	59
22705946	2012	Complexin arrests a pool of docked vesicles for fast Ca2+-dependent release.	52
14709554	2004	Synaptotagmin interaction with the syntaxin/SNAP-25 dimer is mediated by an evolutionarily conserved motif and is sensitive to inositol hexakisphosphate.	49
17956130	2007	Structure of human synaptotagmin 1 C2AB in the absence of Ca2+ reveals a novel domain association.	47
19557857	2009	De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.	42
26202220	2015	Triggered Ca2+ influx is required for extended synaptotagmin 1-induced ER-plasma membrane tethering.	42
18937294	2008	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	41
12089155	2002	Botulinum neurotoxin A activity is dependent upon the presence of specific gangliosides in neuroblastoma cells expressing synaptotagmin I.	35
25705886	2015	Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.	27

Citation

Dessen P

SYT1 (synaptotagmin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47357/syt1