ESYT1 (extended synaptotagmin 1)

2012-11-01  

Identity

HGNC
ESYT1
LOCATION
12q13.2
LOCUSID
23344
ALIAS
FAM62A,MBC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23344
MIM: 616670
HGNC: 29534
Ensembl: ENSG00000139641

Variants:

dbSNP: 23344
ClinVar: 23344
TCGA: ENSG00000139641
COSMIC: ESYT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139641ENST00000267113Q9BSJ8
ENSG00000139641ENST00000267113A0A024RB16
ENSG00000139641ENST00000394048Q9BSJ8
ENSG00000139641ENST00000394048A0A024RB17
ENSG00000139641ENST00000551790F8VZB1

Expression (GTEx)

0
50
100
150
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

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368210882023PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration.9
368210882023PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration.9
308507112019E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped ER-PM Contact Sites and Accelerate Ca(2+) Store Replenishment.25
308507112019E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped ER-PM Contact Sites and Accelerate Ca(2+) Store Replenishment.25
291549492018A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic.10
292221762018Ca(2+) releases E-Syt1 autoinhibition to couple ER-plasma membrane tethering with lipid transport.66
291549492018A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic.10
292221762018Ca(2+) releases E-Syt1 autoinhibition to couple ER-plasma membrane tethering with lipid transport.66
250480042015Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.84
259220752015Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.7
250480042015Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.84
259220752015Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.7
237911782013PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.280
237911782013PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.280
226594502012The oncogenic lung cancer fusion kinase CD74-ROS activates a novel invasiveness pathway through E-Syt1 phosphorylation.49

Citation

Dessen P

ESYT1 (extended synaptotagmin 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52922/js/lib/haematological-explorer/case-report-explorer/