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. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 20; and early infantile epileptic encephalopathy 53. Is expressed in brain; hair cell; inner ear; and retina. Orthologous to human SYNJ1 (synaptojanin 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 21 figures from 8 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
developmental and epileptic encephalopathy 53	Alliance	Developmental and epileptic encephalopathy 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	IPR015047	Synaptojanin-1/2, RNA recognition motif
Family	IPR046985	Inositol 5-phosphatase
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 superfamily	Inositol 5-phosphatase	Inositol polyphosphate-related phosphatase	Nucleotide-binding alpha-beta plait domain superfamily	RNA-binding domain superfamily	RNA recognition motif domain	SAC domain	Synaptojanin-1/2, RNA recognition motif
UniProtKB:A0A8M2B1N6 InterPro	1612
UniProtKB:A0A8M3AWP0 InterPro	1604
UniProtKB:A0A8M3B662 InterPro	1583
UniProtKB:A0A8M2B1I1 InterPro	1570
UniProtKB:A0A8M2B1W8 InterPro	1599
UniProtKB:A0A8M2B211 InterPro	1596
UniProtKB:A0A8M2B1X1 InterPro	1363
UniProtKB:E9QHF3 InterPro	1308
UniProtKB:A0A8M9PTD8 InterPro	1088
UniProtKB:A0A8M2B291 InterPro	1596
UniProtKB:A0A8M3B384 InterPro	1362
UniProtKB:A0A8M2B1P0 InterPro	1583
UniProtKB:A0A8M2B1I0 InterPro	1609