Gene
synj1
- ID
- ZDB-GENE-030131-9180
- Name
- synaptojanin 1
- Symbol
- synj1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Exhibits phosphatidylinositol phosphate 4-phosphatase activity and phosphatidylinositol phosphate 5-phosphatase activity. Involved in several processes, including detection of visible light; retinal cone cell development; and vesicle cytoskeletal trafficking. Is expressed in brain; hair cell; inner ear; and retina. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 20; and early infantile epileptic encephalopathy 53. Orthologous to human SYNJ1 (synaptojanin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 53 | Alliance | Developmental and epileptic encephalopathy 53 | 617389 |
| Parkinson's disease 20 | Alliance | Parkinson disease 20, early-onset | 615530 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000300 | Inositol polyphosphate-related phosphatase |
| Domain | IPR000504 | RNA recognition motif domain |
| Domain | IPR002013 | SAC domain |
| Domain | IPR005135 | Endonuclease/exonuclease/phosphatase |
| Domain | IPR015047 | Synaptojanin-1/2, RNA recognition motif |
| Family | IPR034972 | Synaptojanin-1 |
| Homologous_superfamily | IPR012677 | Nucleotide-binding alpha-beta plait domain superfamily |
| Homologous_superfamily | IPR035979 | RNA-binding domain superfamily |
| Homologous_superfamily | IPR036691 | Endonuclease/exonuclease/phosphatase superfamily |
Domain Details Per Protein
| Protein | Length | Endonuclease/exonuclease/phosphatase | Endonuclease/exonuclease/phosphatase superfamily | Inositol polyphosphate-related phosphatase | Nucleotide-binding alpha-beta plait domain superfamily | RNA-binding domain superfamily | RNA recognition motif domain | SAC domain | Synaptojanin-1 | Synaptojanin-1/2, RNA recognition motif |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E9QHF3
|
1308 | |||||||||
|
UniProtKB:A0A2R8QA90
|
1304 | |||||||||
|
UniProtKB:A0A2R8QIL9
|
1306 | |||||||||
|
UniProtKB:Q5XUX5
|
1308 | |||||||||
|
UniProtKB:A0A2R8QHM1
|
1354 | |||||||||
|
UniProtKB:A0A2R8RW07
|
1352 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance