Gene

synj1

ID
ZDB-GENE-030131-9180
Name
synaptojanin 1
Symbol
synj1 Nomenclature History
Previous Names
  • fb02f11
  • fi15a11
  • no optokinetic response c
  • nrc
  • slacker (1)
  • slak (1)
  • wu:fb02f11
  • wu:fi15a11
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
Expression
All Expression Data
7 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
19 figures from 7 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With synj1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
early infantile epileptic encephalopathy 53 Alliance Epileptic encephalopathy, early infantile, 53 617389
Parkinson's disease 20 Alliance Parkinson disease 20, early-onset 615530
Associated With synj1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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 Domain of unknown function DUF1866
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 Domain of unknown function DUF1866 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
UniProtKB:A0A2R8RW07 1352
UniProtKB:Q5XUX5 1308
UniProtKB:A0A2R8QA90 1304
UniProtKB:E9QHF3 1308
UniProtKB:A0A2R8QIL9 1306
UniProtKB:A0A2R8QHM1 1354
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-synj1 monoclonal IgG Mouse
  • IHC
  • WB
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations