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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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SYNJ1
Gene Tree: Synj1

Human
homologs
SYNJ1, synaptojanin 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 8867
neXtProt AC: NX_O43426

Human Synonyms: INPP5G, PARK20

Human Chr (Location): 21q22.2; chr21:32628759-32728040 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SYNJ1

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(3) Targeted(9)
Genomic Mutations involving Synj1 (5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 443 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (8 records)
Data Summary: Results (233)    Tissues (142)    Images (40)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 213
RT-PCR 20
cDNA source data(114)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase synj1 ; ZFIN synj1    NEW 
Molecular
reagents
All nucleic(117) Genomic(1) cDNA(114) Primer pair(2)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000027935 (Evidence)
Ensembl Gene Model ENSMUSG00000022973 (Evidence)
Entrez Gene 104015 (Evidence)
UniGene 187079
DFCI TC1597058, TC1600110, TC1636057, TC1737617, TC1656552
DoTS DT.55202821, DT.531109, DT.103569892, DT.91323329, DT.94211240, DT.91384640, DT.91334854
NIA Mouse Gene Index U037293
Consensus CDS Project CCDS49906.1, CCDS49907.1
International Mouse Phenotyping Consortium Status Synj1
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(120) RefSeq(39) 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:213893 Quadri M, et al., Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Hum Mutat. 2013 Sep;34(9):1208-15
All references(50)
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
06/23/2015
MGI 5.22
The Jackson Laboratory