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Synj1 Gene Detail
Summary
  • Symbol
    Synj1
  • Name
    synaptojanin 1
  • Synonyms
    A930006D20Rik, mKIAA0910
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354961
    NCBI Gene: 104015
Location & Maps
more
  • Sequence Map
    Chr16:90936092-91011308 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      75217 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 52.18 cM, cytoband C3-C4
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SYNJ1, synaptojanin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SYNJ1, synaptojanin 1
    Orthology source: HomoloGene
  • Synonyms
    INPP5G, PARK20
  • Links
    NCBI Gene ID: 8867
    neXtProt AC: NX_O43426

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

  • HomoloGene
    Vertebrate Homology Class 48252
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: SYNJ1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SYNJ1 associations

Human Disease Mouse Models
       Parkinson Disease 20, Early-Onset; PARK20   OMIM: 615530
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 3 alleles in 3 genetic backgrounds
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Gene trapped
    3
  • Targeted
    10
  • Genomic Mutations
    6 involving Synj1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    539 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000015882 synaptojanin-1
  • InterPro Domains
    IPR015047 Domain of unknown function DUF1866
    IPR005135 Endonuclease/exonuclease/phosphatase
    IPR000300 Inositol polyphosphate-related phosphatase
    IPR012677 Nucleotide-binding alpha-beta plait domain
    IPR000504 RNA recognition motif domain
    IPR002013 SAC domain
Molecular
Reagents
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  • All nucleic 117
    Genomic 1
    cDNA 114
    Primer pair 2

    Microarray probesets 7
Other
Accession IDs
less
MGI:1925189, MGI:2146363
References
more
  • Summaries
    All 51
    Developmental Gene Expression 9
    Gene Ontology 8
    Phenotypes 22
  • 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:226992 Zhu L, et al., Phospholipid dysregulation contributes to ApoE4-associated cognitive deficits in Alzheimer's disease pathogenesis. Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):11965-70

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
08/23/2016
MGI 6.05
The Jackson Laboratory