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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
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:90732980-90808196 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 52.18 cM, cytoband C3-C4
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    535 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 Chr16:90732980-90810543 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SYNJ1, synaptojanin 1
  • Synonyms
    DEE53, EIEE53, INPP5G, PARK20
  • Links
    NCBI Gene ID: 8867
    neXtProt AC: NX_O43426
    UniProt: O43426

  • Chr Location
    21q22.11; chr21:32628759-32728394 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SYNJ1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 3 alleles in 3 genetic backgrounds
    94 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.
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
less
  • All GO Annotations
    66
  • GO References
    15
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    955
  • Tissues
    146
  • cDNA Data
    114
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
    Molecular
    Reagents
    less
    • All nucleic 123
      Genomic 1
      cDNA 114
      Primer pair 7
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1925189, MGI:2146363
    References
    more
    • Summaries
      All 147
      Developmental Gene Expression 14
      Diseases 4
      Gene Ontology 15
      Phenotypes 94
    • Earliest
      J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
    • Latest
      J:344658 Tian Y, et al., SYNJ1 rescues motor functions in hereditary and sporadic Parkinson's disease mice by upregulating TSP-1 expression. Behav Brain Res. 2023 Jul 5;452:114569
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory