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

Gene ID: 17993, updated on 14-Jan-2025

Summary

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 nervous system development. Located in mitochondrion. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. 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, Jan 2025]
Expression
Ubiquitous expression in heart adult (RPKM 45.1), CNS E18 (RPKM 31.6) and 28 other tissues See more
Orthologs
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Genomic context

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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Items 1 - 25 of 30
Process Evidence Code Pubs
acts_upstream_of_or_within adult behavior PubMed 
acts_upstream_of_or_within adult walking behavior PubMed 
involved_in aerobic respiration PubMed 
acts_upstream_of_or_within brain development PubMed 
involved_in brain development  
involved_in cellular respiration  
acts_upstream_of_or_within cellular response to oxygen levels PubMed 
acts_upstream_of_or_within cognition PubMed 
acts_upstream_of_or_within dopamine metabolic process PubMed 
acts_upstream_of_or_within inflammatory response PubMed 
acts_upstream_of_or_within innate immune response PubMed 
acts_upstream_of_or_within mitochondrial respiratory chain complex I assembly PubMed 
involved_in mitochondrial respiratory chain complex I assembly  
acts_upstream_of_or_within neuron apoptotic process PubMed 
acts_upstream_of_or_within neuron development PubMed 
involved_in positive regulation of fibroblast proliferation  
involved_in proton motive force-driven mitochondrial ATP synthesis PubMed 
involved_in proton transmembrane transport  
acts_upstream_of_or_within psychomotor behavior PubMed 
acts_upstream_of_or_within reactive oxygen species metabolic process PubMed 
involved_in reactive oxygen species metabolic process  
acts_upstream_of_or_within regulation of mitochondrial membrane potential PubMed 
acts_upstream_of_or_within regulation of protein phosphorylation PubMed 
acts_upstream_of_or_within respiratory electron transport chain PubMed 
acts_upstream_of_or_within respiratory system process PubMed 
involved_in response to cAMP  
acts_upstream_of_or_within response to injury involved in regulation of muscle adaptation PubMed 
acts_upstream_of_or_within sensory perception of sound PubMed 
acts_upstream_of_or_within tricarboxylic acid cycle PubMed 
acts_upstream_of_or_within visual perception PubMed 
Items 1 - 25 of 30
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane PubMed 
located_in mitochondrial inner membrane  
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
located_in mitochondrion  
part_of respiratory chain complex I  
part_of respiratory chain complex I PubMed 
part_of respiratory chain complex I  

General protein information

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)

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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_010887.2NP_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:76170
    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)
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