SYNJ1 (synaptojanin 1)

2006-10-01  

Identity

HGNC
SYNJ1
LOCATION
21q22.11
LOCUSID
8867
ALIAS
DEE53,EIEE53,INPP5G,PARK20
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8867
MIM: 604297
HGNC: 11503
Ensembl: ENSG00000159082

Variants:

dbSNP: 8867
ClinVar: 8867
TCGA: ENSG00000159082
COSMIC: SYNJ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159082ENST00000357345O43426
ENSG00000159082ENST00000382491J3KPK1
ENSG00000159082ENST00000382499C9JFZ1
ENSG00000159082ENST00000418301H7BZ56
ENSG00000159082ENST00000429236C9JW66
ENSG00000159082ENST00000433931J3KQV8
ENSG00000159082ENST00000438952H7BZC2
ENSG00000159082ENST00000456084C9J1Z6
ENSG00000159082ENST00000630077A0A0D9SGJ6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204
Synthesis of IP2, IP, and Ins in the cytosolREACTOMER-HSA-1855183
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

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
238045632013The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.96
238045772013Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.77
242621822014Genetics of Parkinson's disease--state of the art, 2013.53
283310292017The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.46
225115942012Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.38
248164322014PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.36
282314682017Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons.34
231151652012Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease.28
240522552013Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model.23
161376872005SNX9 as an adaptor for linking synaptojanin-1 to the Cdc42 effector ACK1.21

Citation

Dessen P

SYNJ1 (synaptojanin 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43521/synj1