SYN1 (synapsin I)

2010-11-01 Affiliation

Identity

HGNC

SYN1

LOCATION

Xp11.3

LOCUSID

6853

ALIAS

EPILX,MRX50,SYN1a,SYN1b,SYNI

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: 6853
MIM: 313440
HGNC: 11494
Ensembl: ENSG00000008056

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000008056	ENST00000295987	P17600
ENSG00000008056	ENST00000340666	P17600
ENSG00000008056	ENST00000639776	A0A1W2PS00
ENSG00000008056	ENST00000640721	A0A1W2PSE9

Expression (GTEx)

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

Pathway	Source	External ID
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
Serotonin Neurotransmitter Release Cycle	REACTOME	R-HSA-181429
Dopamine Neurotransmitter Release Cycle	REACTOME	R-HSA-212676

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36693418	2023	Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate.	0
36693418	2023	Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate.	0
35876881	2022	An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.	13
35876881	2022	An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.	13
33431828	2021	Cooperative function of synaptophysin and synapsin in the generation of synaptic vesicle-like clusters in non-neuronal cells.	30
33774037	2021	Synapsin Condensates Recruit alpha-Synuclein.	36
34243774	2021	Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.	4
33431828	2021	Cooperative function of synaptophysin and synapsin in the generation of synaptic vesicle-like clusters in non-neuronal cells.	30
33774037	2021	Synapsin Condensates Recruit alpha-Synuclein.	36
34243774	2021	Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.	4
32934297	2020	Semaphorin 3A controls enteric neuron connectivity and is inversely associated with synapsin 1 expression in Hirschsprung disease.	6
32934297	2020	Semaphorin 3A controls enteric neuron connectivity and is inversely associated with synapsin 1 expression in Hirschsprung disease.	6
31727880	2019	Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function.	17
31727880	2019	Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function.	17
29671924	2018	Effects of SYN1(Q555X) mutation on cortical gray matter microstructure.	3

Citation

Dessen P

SYN1 (synapsin I)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

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