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Ndufs4 Gene Detail
Summary
  • Symbol
    Ndufs4
  • Name
    NADH dehydrogenase (ubiquinone) Fe-S protein 4
  • Synonyms
    6720411N02Rik, C1-18k
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343135
    NCBI Gene: 17993
  • Gene Overview
    MyGene.info: NDUFS4
Location & Maps
more
  • Sequence Map
    Chr13:114287795-114388094 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      100300 bp   ±  kb flank

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

  • Chr Location
    5q11.1; chr5:53560623-53683341 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Leigh Syndrome; LS   OMIM: 256000 View 3 models
Mitochondrial Complex I Deficiency   OMIM: 252010 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    91 phenotypes from 4 alleles in 10 genetic backgrounds
    4 phenotypes from multigenic genotypes
    2 images
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    46
  • Gene trapped
    39
  • Spontaneous
    1
  • Targeted
    6
  • Incidental Mutations
    APF
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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
Polymorphisms
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  • SNPs within 2kb
    888 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000011099 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
  • InterPro Domains
    IPR006885 NADH dehydrogenase ubiquinone Fe-S protein 4, mitochondrial
Molecular
Reagents
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  • All nucleic 12
    cDNA 11
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1924978
References
more
  • Summaries
    All 63
    Developmental Gene Expression 3
    Diseases 4
    Gene Ontology 9
    Phenotypes 32
  • 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:227501 de Haas R, et al., Gait analysis in a mouse model resembling Leigh disease. Behav Brain Res. 2016 Jan 1;296:191-8

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
04/19/2016
MGI 6.03
The Jackson Laboratory