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Ndufs4 Gene Detail
Summary
  • Symbol
    Ndufs4
  • Name
    NADH:ubiquinone oxidoreductase core subunit S4
  • Synonyms
    6720411N02Rik, C1-18k
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343135
    NCBI Gene: 17993
  • Gene Overview
    MyGene.info: NDUFS4
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:114287795-114388094 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 64.12 cM, cytoband D2.2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    888 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1343135
protein coding gene Chr13:114287795-114388258 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020955
protein coding gene Chr13:116977582-117087449 (-)
A/J MGP_AJ_G0020905
protein coding gene Chr13:112297549-112394021 (-)
AKR/J MGP_AKRJ_G0020880
protein coding gene Chr13:115632304-115745090 (-)
BALB/cJ MGP_BALBcJ_G0020905
protein coding gene Chr13:112968002-113075430 (-)
C3H/HeJ MGP_C3HHeJ_G0020694
protein coding gene Chr13:115445389-115553755 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021341
protein coding gene Chr13:120417018-120521327 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018910
protein coding gene Chr13:107531609-107625314 (-)
CAST/EiJ MGP_CASTEiJ_G0020213
protein coding gene Chr13:115117053-115227731 (-)
CBA/J MGP_CBAJ_G0020656
protein coding gene Chr13:125008139-125118081 (-)
DBA/2J MGP_DBA2J_G0020779
protein coding gene Chr13:111968738-112066740 (-)
FVB/NJ MGP_FVBNJ_G0020763
protein coding gene Chr13:110663710-110762356 (-)
LP/J MGP_LPJ_G0020855
protein coding gene Chr13:117001479-117101980 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020791
protein coding gene Chr13:125293951-125406727 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021377
protein coding gene Chr13:115147548-115251242 (-)
PWK/PhJ MGP_PWKPhJ_G0019966
protein coding gene Chr13:110753991-110859105 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019788
protein coding gene Chr13:111449531-111559758 (-)
WSB/EiJ MGP_WSBEiJ_G0020271
protein coding gene Chr13:115735501-115841124 (-)



Homology
more
  • Human Ortholog
    NDUFS4, NADH:ubiquinone oxidoreductase subunit S4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NDUFS4, NADH:ubiquinone oxidoreductase subunit S4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AQDQ, CI-18, CI-18 kDa, CI-AQDQ
  • Links
    NCBI Gene ID: 4724
    neXtProt AC: NX_O43181
    UniProt: O43181

  • Chr Location
    5q11.2; chr5:53560610-53683341 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Ndufs4 mouse models; 2 with human NDUFS4 associations

Human Disease Mouse Models
      
IDs
View 3 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    93 phenotypes from 4 alleles in 10 genetic backgrounds
    4 phenotypes from multigenic genotypes
    2 images
    40 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.
Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7.
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17993 NCBI Gene Model | MGI Sequence Detail 100300 C57BL/6J ±  kb
    transcript NM_010887 RefSeq | MGI Sequence Detail 1534 C57BL/6  
    polypeptide Q9CXZ1 UniProt | EBI | MGI Sequence Detail 175 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • PDB
    • InterPro Domains
      IPR038532 NADH dehydrogenase ubiquinone Fe-S protein 4-like superfamily
      IPR006885 NADH dehydrogenase ubiquinone Fe-S protein 4, mitochondrial
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 12
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924978
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 11
      Phenotypes 40
    • Earliest
      J:54917 Murdock DG, et al., Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocator. J Biol Chem. 1999 May 14;274(20):14429-33
    • Latest
      J:260020 Choi WS, et al., Conditional deletion of Ndufs4 in dopaminergic neurons promotes Parkinson's disease-like non-motor symptoms without loss of dopamine neurons. Sci Rep. 2017 Mar 22;7:44989

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory