About   Help   FAQ
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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NDUFS4
Protein SuperFamily: NADH dehydrogenase (ubiquinone) iron-sulfur protein 4
Gene Tree: Ndufs4

Human
homologs
NDUFS4, NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4724
neXtProt AC: NX_O43181

Human Synonyms: AQDQ, CI-18

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

Disease Associations: (2) Diseases Associated with Human NDUFS4

Mutations,
alleles, and
phenotypes
All mutations/alleles(46) : Gene trapped(39) Spontaneous(1) Targeted(6)
Incidental mutations (data from 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.
 
Human Diseases Modeled in Mice Using Ndufs4 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(2)
Interactions
Ndufs4 interacts with 148 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (97)    Tissues (97)    Images (10)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 3
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ndufs4    NEW 
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 TC1666262, TC1658528, TC1636758, TC1575609, TC1722617
DoTS DT.537875, DT.40164646, DT.110961286, DT.101311094
NIA Mouse Gene Index U035198
Consensus CDS Project CCDS49368.1
International Mouse Phenotyping Consortium Status Ndufs4
Sequences
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 sequences
All sequences(36) RefSeq(2) UniProt(4)
Polymorphisms
SNPs within 2kb(884 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:220851 Yu AK, et al., Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. Hum Mol Genet. 2015 May 15;24(10):2848-60
All references(63)
Disease annotation references (3)
Other
accession IDs
MGI:1924978

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory