SYN1 (synapsin I)

2010-11-01  

Identity

HGNC
SYN1
LOCATION
Xp11.3
LOCUSID
6853
ALIAS
EPILX,MRX50,SYN1a,SYN1b,SYNI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6853
MIM: 313440
HGNC: 11494
Ensembl: ENSG00000008056

Variants:

dbSNP: 6853
ClinVar: 6853
TCGA: ENSG00000008056
COSMIC: SYN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000008056ENST00000295987P17600
ENSG00000008056ENST00000340666P17600
ENSG00000008056ENST00000639776A0A1W2PS00
ENSG00000008056ENST00000640721A0A1W2PSE9

Expression (GTEx)

0
50
100
150
200
250
300
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
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
214412472011SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.71
149853772004Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.65
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
225719252013H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.22
207000592010A role for syndecan-1 and claudin-2 in microbial translocation during HIV-1 infection.21
234068702013Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.21
243124982013PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.21
146736012004Regional alteration of synapsin I in the hippocampal formation of Alzheimer's disease patients.15
232507962013Specificity protein 1 (Sp1)-dependent activation of the synapsin I gene (SYN1) is modulated by RE1-silencing transcription factor (REST) and 5'-cytosine-phosphoguanine (CpG) methylation.15

Citation

Dessen P

SYN1 (synapsin I)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/51752/syn1