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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
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:90936092-91011308 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 52.18 cM, cytoband C3-C4
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    539 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354961
protein coding gene Chr16:90936092-91012134 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023032
protein coding gene Chr16:91909281-91991692 (-)
A/J MGP_AJ_G0023000
protein coding gene Chr16:87625562-87701375 (-)
AKR/J MGP_AKRJ_G0022970
protein coding gene Chr16:90260107-90340691 (-)
BALB/cJ MGP_BALBcJ_G0023002
protein coding gene Chr16:88146054-88221287 (-)
C3H/HeJ MGP_C3HHeJ_G0022763
protein coding gene Chr16:90831373-90907009 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023449
protein coding gene Chr16:94898255-94975880 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020951
protein coding gene Chr16:85327085-85406755 (-)
CAST/EiJ MGP_CASTEiJ_G0022282
protein coding gene Chr16:91379517-91458552 (-)
CBA/J MGP_CBAJ_G0022732
protein coding gene Chr16:98946279-99027277 (-)
DBA/2J MGP_DBA2J_G0022866
protein coding gene Chr16:87524152-87600015 (-)
FVB/NJ MGP_FVBNJ_G0022840
protein coding gene Chr16:86655691-86730614 (-)
LP/J MGP_LPJ_G0022936
protein coding gene Chr16:91605871-91686634 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022861
protein coding gene Chr16:103512547-103594643 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023467
protein coding gene Chr16:90774477-90852673 (-)
PWK/PhJ MGP_PWKPhJ_G0022027
protein coding gene Chr16:87696434-87773104 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021857
protein coding gene Chr16:90337639-90414300 (-)
WSB/EiJ MGP_WSBEiJ_G0022334
protein coding gene Chr16:91015666-91097716 (-)



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
    28 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 ENSMUSG00000022973 Ensembl Gene Model | MGI Sequence Detail 75217 C57BL/6J ±  kb
    transcript ENSMUST00000121759 Ensembl | MGI Sequence Detail 7090 Not Applicable  
    polypeptide ENSMUSP00000113308 Ensembl | MGI Sequence Detail 1607 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 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 72
      Developmental Gene Expression 11
      Gene Ontology 13
      Phenotypes 28
    • 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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory