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

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 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, Nov 2024]
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

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
NDUFS4 regulates cristae remodeling in diabetic kidney disease.
Title: NDUFS4 regulates cristae remodeling in diabetic kidney disease.
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.
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.
NDUFS4 promotes tumor progression and predicts prognosis in gastric cancer.
Title: NDUFS4 promotes tumor progression and predicts prognosis in gastric cancer.
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.
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.
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
Title: Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
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.
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)

Endonuclease-mediated (5)
Gene trapped (1)
Spontaneous (1) 1 citation
Targeted (3) 1 citation

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

RH126439 (e-PCR)
- UniSTS:163147

D13Mit31 (e-PCR), detects polymorphism
- UniSTS:127128

AA959866 (e-PCR)
- UniSTS:159914

Ndufs4 (e-PCR), detects polymorphism
- UniSTS:499185

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
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	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)

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