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Synj1
Gene Detail
 Symbol
Name
ID
Synj1
synaptojanin 1
MGI:1354961
Synonyms A930006D20Rik, mKIAA0910
Feature Type protein coding gene
Genetic Map
Chromosome 16
52.18 cM, cytoband C3-C4
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr16:90936092-91011308 bp, - strand
From VEGA annotation of GRCm38

  75217 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:48252  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Synj1

Human
homologs
Human Homolog SYNJ1, synaptojanin 1
NCBI Gene ID 8867
neXtProt AC  NX_O43426
Human Synonyms  INPP5G, PARK20
Human Chr (Location)  21q22.2; chr21:32628759-32728040 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SYNJ1
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(3) Targeted(6)
Genomic Mutations involving Synj1 (3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth.
 
Interactions
Synj1 interacts with 444 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (29 annotations)
Process dephosphorylation, inositol phosphate dephosphorylation, ...
Component cell, clathrin coat, ...
Function phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, phosphatidylinositol phosphate 5-phosphatase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (229)    Tissues (140)    Images (38)
Theiler Stages: 13, 15, 17, 20, 22, 23, 26, 28
Assay TypeResults
RNA in situ 213
RT-PCR 16
cDNA source data(114)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(116) Genomic(1) cDNA(114) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000027935 (Evidence)
Ensembl Gene ModelENSMUSG00000022973 (Evidence)
Entrez Gene104015 (Evidence)
UniGene187079
DFCITC1597058, TC1600110, TC1636057, TC1656552, TC1737617
DoTSDT.103569892, DT.531109, DT.55202821, DT.91323329, DT.91334854, DT.91384640, DT.94211240
NIA Mouse Gene IndexU037293
Consensus CDS ProjectCCDS49906.1, CCDS49907.1
International Mouse Knockout Project StatusSynj1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027935 VEGA Gene Model | MGI Sequence Detail 75217 C57BL/6J ±  kb
transcript OTTMUST00000069191 VEGA | MGI Sequence Detail 7090 Not Applicable 
polypeptide OTTMUSP00000035111 VEGA | MGI Sequence Detail 1607 Not Applicable 

For the selected sequences
All sequences(110) RefSeq(29) UniProt(7)
Polymorphisms SNPs within 2kb(535 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015047 Domain of unknown function DUF1866
InterPro IPR005135 Endonuclease/exonuclease/phosphatase
InterPro IPR000300 Inositol polyphosphate-related phosphatase
InterPro IPR012677 Nucleotide-binding, alpha-beta plait
InterPro IPR000504 RNA recognition motif domain
InterPro IPR002013 Synaptojanin, N-terminal
Protein Ontology PR:000015882 synaptojanin-1
References (Earliest) J:45411 Khvotchev M, et al., Developmentally regulated alternative splicing in a novel synaptojanin. J Biol Chem. 1998 Jan 23;273(4):2306-11
(Latest) J:194200 Soda K, et al., Role of dynamin, synaptojanin, and endophilin in podocyte foot processes. J Clin Invest. 2012 Dec 3;122(12):4401-11
All references(49)
Other
accession IDs
MGI:1925189, MGI:2146363

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory