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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
  • Alliance
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, HGNC
  • Synonyms
    EIEE53, INPP5G, PARK20
  • Links
    NCBI Gene ID: 8867
    neXtProt AC: NX_O43426
    UniProt: O43426

  • Chr Location
    21q22.11; chr21:32628759-32728128 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    27 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • 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
    less
    • SNPs within 2kb
      539 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • InterPro Domains
      IPR015047 Domain of unknown function DUF1866
      IPR005135 Endonuclease/exonuclease/phosphatase
      IPR036691 Endonuclease/exonuclease/phosphatase superfamily
      IPR000300 Inositol polyphosphate-related phosphatase
      IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
      IPR035979 RNA-binding domain superfamily
      IPR000504 RNA recognition motif domain
      IPR002013 SAC domain
      IPR034972 Synaptojanin-1
      IPR034971 Synaptojanin-1, RNA recognition motif
    Molecular
    Reagents
    less
    • All nucleic 118
      Genomic 1
      cDNA 114
      Primer pair 2
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1925189, MGI:2146363
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 11
      Gene Ontology 11
      Phenotypes 27
    • 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:262380 Watson-Scales S, et al., Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration. PLoS Genet. 2018 May;14(5):e1007383

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory