Ndufs4
Gene Detail

Symbol Name ID

Ndufs4 NADH dehydrogenase (ubiquinone) Fe-S protein 4 MGI:1343135

Synonyms

6720411N02Rik, C1-18k

Feature Type

protein coding gene

Genetic Map

Chromosome 13

64.12 cM, cytoband D2.2
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr13:114287795-114388094 bp, - strand From NCBI annotation of GRCm38   100300 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1866  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: NADH dehydrogenase (ubiquinone) iron-sulfur protein 4
Gene Tree: Ndufs4

Human homologs

Human Homolog		NDUFS4, NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NCBI Gene ID		4724
neXtProt AC		NX_O43181
Human Synonyms		AQDQ, CI-18
Human Chr (Location)		5q11.1; chr5:52856465-52979171 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human NDUFS4

Alleles and phenotypes

All alleles(46) : Targeted(6) Gene trapped(39) Spontaneous(1)
 

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.

 
Human Diseases Modeled Using Mouse Ndufs4 (2)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (26 annotations)

Process	brain development, cAMP-mediated signaling, ...
Component	membrane, mitochondrial inner membrane, ...
Function	NADH dehydrogenase (ubiquinone) activity, oxidoreductase activity, acting on NAD(P)H

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (101)    Tissues (101)    Images (10)
Theiler Stages: 3, 4, 5, 22

Assay Type	Results
RNA in situ	94
RT-PCR	7

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(12) cDNA(11) Primer pair(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000021764 (Evidence)
Entrez Gene	17993 (Evidence)
DFCI	TC1575609, TC1636758, TC1658528, TC1666262, TC1722617
DoTS	DT.101311094, DT.110961286, DT.40164646, DT.537875
NIA Mouse Gene Index	U035198
Consensus CDS Project	CCDS49368.1
International Mouse Knockout Project Status	Ndufs4

Sequences

Length	Strain/Species
genomic	17993	NCBI Gene Model | MGI Sequence Detail	100300	C57BL/6J
transcript	NM_010887	RefSeq | MGI Sequence Detail	1534	C57BL/6
polypeptide	Q9CXZ1	UniProt | EBI | MGI Sequence Detail	175	Not Applicable

All sequences(36) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(603 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006885	NADH dehydrogenase ubiquinone Fe-S protein 4, mitochondrial
Protein Ontology	PR:000011099	NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial

Graphical View of Protein Domain Structure

References

(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:190475 Quintana A, et al., Fatal breathing dysfunction in a mouse model of Leigh syndrome. J Clin Invest. 2012 Jul 2;122(7):2359-68
All references(53)

Other accession IDs

MGI:1924978