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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:114424331-114524630 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 64.12 cM, cytoband D2.2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2709 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 Chr13:114424331-114524794 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NDUFS4, NADH:ubiquinone oxidoreductase subunit S4
  • Synonyms
    AQDQ, CI-18, CI-18 kDa, CI-AQDQ, MC1DN1
  • Links
    NCBI Gene ID: 4724
    neXtProt AC: NX_O43181
    UniProt: O43181

  • Chr Location
    5q11.2; chr5:53560633-53683338 (+)  GRCh38
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
      
IDs
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
less
  • Phenotype Summary
    93 phenotypes from 4 alleles in 10 genetic backgrounds
    4 phenotypes from multigenic genotypes
    2 images
    84 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.
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
less
  • All GO Annotations
    44
  • GO References
    20
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
membraneless 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
    803
  • Tissues
    97
  • cDNA Data
    12
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 12
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924978
    References
    more
    • Summaries
      All 120
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 20
      Phenotypes 84
    • 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:355679 Vercellino I, et al., SCAF1 drives the compositional diversity of mammalian respirasomes. Nat Struct Mol Biol. 2024 Jul;31(7):1061-1071
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory