Identity
HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
DEE53,EIEE53,INPP5G,PARK20
FUSION GENES
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: 8867
MIM: 604297
HGNC: 11503
Ensembl: ENSG00000159082
Variants:
dbSNP: 8867
ClinVar: 8867
TCGA: ENSG00000159082
COSMIC: SYNJ1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37788328 | 2023 | α-Synuclein induces deficiency in clathrin-mediated endocytosis through inhibiting synaptojanin1 expression. | 1 |
| 37788328 | 2023 | α-Synuclein induces deficiency in clathrin-mediated endocytosis through inhibiting synaptojanin1 expression. | 1 |
| 33677035 | 2021 | Asparagine endopeptidase cleaves synaptojanin 1 and triggers synaptic dysfunction in Parkinson's disease. | 4 |
| 33677035 | 2021 | Asparagine endopeptidase cleaves synaptojanin 1 and triggers synaptic dysfunction in Parkinson's disease. | 4 |
| 31913757 | 2020 | TGFβ receptor endocytosis and Smad signaling require synaptojanin1, PI3K-C2α-, and INPP4B-mediated phosphoinositide conversions. | 12 |
| 32493451 | 2020 | The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease. | 12 |
| 33349335 | 2020 | A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations. | 6 |
| 31913757 | 2020 | TGFβ receptor endocytosis and Smad signaling require synaptojanin1, PI3K-C2α-, and INPP4B-mediated phosphoinositide conversions. | 12 |
| 32493451 | 2020 | The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease. | 12 |
| 33349335 | 2020 | A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations. | 6 |
| 31751865 | 2019 | A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease. | 13 |
| 31751865 | 2019 | A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease. | 13 |
| 28421333 | 2018 | Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples. | 4 |
| 29515184 | 2018 | Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations. | 34 |
| 29874583 | 2018 | Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease. | 29 |
Citation
Dessen P
SYNJ1 (synaptojanin 1)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43521/synj1-(synaptojanin-1)
