U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ndufs4 NADH:ubiquinone oxidoreductase core subunit S4 [ Mus musculus (house mouse) ]

Gene ID: 17993, updated on 16-Oct-2024

Summary

Go to the top of the page Help
Official Symbol
Ndufs4provided by MGI
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S4provided by MGI
Primary source
MGI:MGI:1343135
See related
Ensembl:ENSMUSG00000021764 AllianceGenome:MGI:1343135
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
C1-18k; 6720411N02Rik
Summary
Enables NADH dehydrogenase (ubiquinone) activity. Acts upstream of or within several processes, including adult walking behavior; mitochondrial respiratory chain complex I assembly; and psychomotor behavior. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study Leigh disease and mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in Leigh disease and nuclear type mitochondrial complex I deficiency 1. Orthologous to human NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart adult (RPKM 45.1), CNS E18 (RPKM 31.6) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Ndufs4 in Genome Data Viewer
Location:
13 D2.2; 13 64.12 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (114424331..114524630, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (114287795..114388094, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene ADP-ribosylation factor-like 15 Neighboring gene RIKEN cDNA A430090L17 gene Neighboring gene STARR-seq mESC enhancer starr_35752 Neighboring gene predicted gene, 41072 Neighboring gene STARR-seq mESC enhancer starr_35753 Neighboring gene STARR-seq mESC enhancer starr_35756 Neighboring gene STARR-seq mESC enhancer starr_35758 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:115178183-115178393 Neighboring gene STARR-seq mESC enhancer starr_35759 Neighboring gene STARR-seq mESC enhancer starr_35760 Neighboring gene predicted gene, 41073 Neighboring gene predicted gene, 41074 Neighboring gene follistatin

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activation of RXRalpha exerts cardioprotection through transcriptional upregulation of Ndufs4 in heart failure.
    Title: Activation of RXRα exerts cardioprotection through transcriptional upregulation of Ndufs4 in heart failure.
  2. NDUFS4 regulates cristae remodeling in diabetic kidney disease.
    Title: NDUFS4 regulates cristae remodeling in diabetic kidney disease.
  3. Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4[-/-] mouse.
    Title: Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4(-/-) mouse.
  4. Ndufs4 KO mice: A model to study comorbid mood disorders associated with mitochondrial dysfunction.
    Title: Ndufs4 KO mice: A model to study comorbid mood disorders associated with mitochondrial dysfunction.
  5. NDUFS4 promotes tumor progression and predicts prognosis in gastric cancer.
    Title: NDUFS4 promotes tumor progression and predicts prognosis in gastric cancer.
  6. Microglial response promotes neurodegeneration in the Ndufs4 KO mouse model of Leigh syndrome.
    Title: Microglial response promotes neurodegeneration in the Ndufs4 KO mouse model of Leigh syndrome.
  7. Noninvasive Ophthalmic Imaging Measures Retinal Degeneration and Vision Deficits in Ndufs4-/- Mouse Model of Mitochondrial Complex I Deficiency.
    Title: Noninvasive Ophthalmic Imaging Measures Retinal Degeneration and Vision Deficits in Ndufs4-/- Mouse Model of Mitochondrial Complex I Deficiency.
  8. Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
    Title: Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
  9. MicroRNA-128 inhibits mitochondrial biogenesis and function via targeting PGC1alpha and NDUFS4.
    Title: MicroRNA-128 inhibits mitochondrial biogenesis and function via targeting PGC1α and NDUFS4.
  10. Ndufs4 ablation decreases synaptophysin expression in hippocampus.
    Title: Ndufs4 ablation decreases synaptophysin expression in hippocampus.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables NADH dehydrogenase (ubiquinone) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
contributes_to NADH dehydrogenase (ubiquinone) activity ISO
Inferred from Sequence Orthology
more info
  
enables NADH dehydrogenase (ubiquinone) activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within adult behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within adult walking behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in aerobic respiration NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in brain development ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular respiration ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cellular response to oxygen levels IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cognition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within dopamine metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within innate immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuron development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of fibroblast proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in proton motive force-driven mitochondrial ATP synthesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within psychomotor behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in reactive oxygen species metabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within respiratory electron transport chain IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within respiratory system process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to cAMP ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to injury involved in regulation of muscle adaptation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
part_of respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of respiratory chain complex I ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
Names
CI-18 kDa
CI-AQDQ
NADH-ubiquinone oxidoreductase 18 kDa subunit
complex I-18 kDa
complex I-AQDQ

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_010887.2 → NP_035017.2  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial

    Status: VALIDATED

    Source sequence(s)
    AK011124, AK035175, CJ041886, CJ073528
    Consensus CDS
    CCDS49368.1
    UniProtKB/Swiss-Prot
    Q9CXZ1, Q9WUB1
    UniProtKB/TrEMBL
    E9QPX3
    Related
    ENSMUSP00000022286.7, ENSMUST00000022286.8
    Conserved Domains (1) summary
    pfam04800
    Location:76 → 170
    ETC_C1_NDUFA4; ETC complex I subunit conserved region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    114424331..114524630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CXZ1.3 GenPept UniProtKB/Swiss-Prot:Q9CXZ1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous