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

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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	synj1-201 (1) Ensembl	Havana	7800 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	synj1-002 (1) Ensembl	Havana	759 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-synj1	monoclonal	synj1	IgG	Mouse	IHC WB		2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations