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Aliases for NDUFS4 Gene

Aliases for NDUFS4 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit S4 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 18 KDa Subunit 3 4
  • Complex I 18kDa Subunit 2 3
  • Complex I-AQDQ 3 4
  • CI-18 KDa 3 4
  • CI-AQDQ 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (18kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 4, Mitochondrial 3
  • Mitochondrial Respiratory Chain Complex I (18-KD Subunit) 3
  • Complex I-18 KDa 4
  • CI-18 3
  • AQDQ 3

External Ids for NDUFS4 Gene

Previous GeneCards Identifiers for NDUFS4 Gene

  • GC05P053020
  • GC05P054286
  • GC05P052826
  • GC05P052872
  • GC05P052892
  • GC05P049829

Summaries for NDUFS4 Gene

Entrez Gene Summary for NDUFS4 Gene

  • This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for NDUFS4 Gene

NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4) is a Protein Coding gene. Diseases associated with NDUFS4 include Mitochondrial Complex I Deficiency and Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and oxidoreductase activity, acting on NAD(P)H.

UniProtKB/Swiss-Prot for NDUFS4 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Wiki entry for NDUFS4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS4 Gene

Genomics for NDUFS4 Gene

Regulatory Elements for NDUFS4 Gene

Enhancers for NDUFS4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G053560 1.1 ENCODE 5.8 +0.3 289 1.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 NDUFS4 FST GC05M053671
GH05G053477 1.1 ENCODE 4.6 -79.4 -79409 6.5 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 NDUFS4 FST GC05M053469
GH05G053567 0.7 ENCODE 4.9 +8.3 8284 1.9 FOXA2 CEBPG TEAD3 FOXM1 ZNF652 TEAD1 HLF BHLHE40 NR2F1 CEBPB NDUFS4 GC05M053671
GH05G053601 0.6 ENCODE 5 +41.1 41143 1.3 JUN CEBPB EP300 JUND POLR2A FOS CUX1 ZBTB33 HOMEZ NR2C2 NDUFS4 GC05M053671
GH05G054359 0.6 ENCODE 4.4 +800.6 800571 2.9 FOSL1 PKNOX1 JUND IKZF1 BHLHE40 SIN3A ARL15 HSPB3 NDUFS4 RPL37P25 LINC01033
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFS4 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000180503 278 1800 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for NDUFS4 Gene

Chromosome:
5
Start:
53,560,623 bp from pter
End:
53,683,341 bp from pter
Size:
122,719 bases
Orientation:
Plus strand

Genomic View for NDUFS4 Gene

Genes around NDUFS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS4 Gene

Proteins for NDUFS4 Gene

  • Protein details for NDUFS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43181-NDUS4_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
    Protein Accession:
    O43181
    Secondary Accessions:
    • Q9BS69

    Protein attributes for NDUFS4 Gene

    Size:
    175 amino acids
    Molecular mass:
    20108 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.

neXtProt entry for NDUFS4 Gene

Post-translational modifications for NDUFS4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFS4 Gene

No data available for DME Specific Peptides for NDUFS4 Gene

Domains & Families for NDUFS4 Gene

Protein Domains for NDUFS4 Gene

Suggested Antigen Peptide Sequences for NDUFS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43181

UniProtKB/Swiss-Prot:

NDUS4_HUMAN :
  • Belongs to the complex I NDUFS4 subunit family.
Family:
  • Belongs to the complex I NDUFS4 subunit family.
genes like me logo Genes that share domains with NDUFS4: view

Function for NDUFS4 Gene

Molecular function for NDUFS4 Gene

GENATLAS Biochemistry:
NADH ubiquitine dehydrogenase (Q reductase),18kDa,component of complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 4,extrinsic domain,mitochondrial
UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Ontology (GO) - Molecular Function for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 contributes_to NADH dehydrogenase (ubiquinone) activity IMP 15038602
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
genes like me logo Genes that share ontologies with NDUFS4: view
genes like me logo Genes that share phenotypes with NDUFS4: view

Human Phenotype Ontology for NDUFS4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS4 Gene

MGI Knock Outs for NDUFS4:

Animal Model Products

CRISPR Products

miRNA for NDUFS4 Gene

miRTarBase miRNAs that target NDUFS4

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NDUFS4 Gene

Localization for NDUFS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS4 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFS4 gene
Compartment Confidence
mitochondrion 5
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IMP 11112787
GO:0016020 membrane IEA --
GO:0045271 respiratory chain complex I IEA --
genes like me logo Genes that share ontologies with NDUFS4: view

Pathways & Interactions for NDUFS4 Gene

genes like me logo Genes that share pathways with NDUFS4: view

Gene Ontology (GO) - Biological Process for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation IMP 11165261
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0007420 brain development IMP 14765537
GO:0019933 cAMP-mediated signaling IMP 11165261
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with NDUFS4: view

No data available for SIGNOR curated interactions for NDUFS4 Gene

Drugs & Compounds for NDUFS4 Gene

(33) Drugs for NDUFS4 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0
Rotenone Pharma inhibitor of the mitochondrial complex I electron transport chain 0

(36) Additional Compounds for NDUFS4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8

(1) ApexBio Compounds for NDUFS4 Gene

Compound Action Cas Number
Rotenone inhibitor of the mitochondrial complex I electron transport chain 83-79-4
genes like me logo Genes that share compounds with NDUFS4: view

Drug Products

Transcripts for NDUFS4 Gene

Unigene Clusters for NDUFS4 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS4 Gene

No ASD Table

Relevant External Links for NDUFS4 Gene

GeneLoc Exon Structure for
NDUFS4
ECgene alternative splicing isoforms for
NDUFS4

Expression for NDUFS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFS4 Gene

Protein differential expression in normal tissues from HIPED for NDUFS4 Gene

This gene is overexpressed in Brain (15.3) and Heart (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFS4 Gene



Protein tissue co-expression partners for NDUFS4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFS4 Gene:

NDUFS4

SOURCE GeneReport for Unigene cluster for NDUFS4 Gene:

Hs.528222

Evidence on tissue expression from TISSUES for NDUFS4 Gene

  • Heart(2.9)
  • Nervous system(2.9)
  • Muscle(2.8)
  • Eye(2.7)
  • Kidney(2.3)
  • Lung(2.3)
  • Blood(2.2)
  • Gall bladder(2.2)
  • Liver(2.2)
  • Intestine(2.1)
  • Lymph node(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFS4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS4 Gene

Orthologs for NDUFS4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS4 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia NDUFS4 34 35
  • 92.76 (n)
dog
(Canis familiaris)
Mammalia NDUFS4 34 35
  • 92.57 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFS4 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs4 34 16 35
  • 88.19 (n)
rat
(Rattus norvegicus)
Mammalia Ndufs4 34
  • 87.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS4 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS4 34 35
  • 78.17 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFS4 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs4 34
  • 77.58 (n)
Str.9005 34
zebrafish
(Danio rerio)
Actinopterygii ndufs4 34 35
  • 72.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12203 35
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lpd-5 34 35
  • 51.69 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FRO1 34
  • 52.8 (n)
rice
(Oryza sativa)
Liliopsida Os07g0585800 34
  • 48.98 (n)
Species where no ortholog for NDUFS4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFS4 Gene

ENSEMBL:
Gene Tree for NDUFS4 (if available)
TreeFam:
Gene Tree for NDUFS4 (if available)

Paralogs for NDUFS4 Gene

No data available for Paralogs for NDUFS4 Gene

Variants for NDUFS4 Gene

Sequence variations from dbSNP and Humsavar for NDUFS4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs104893898 Pathogenic 53,646,371(+) GAGAG(C/T)GATGG nc-transcript-variant, reference, stop-gained
rs104893899 Pathogenic 53,560,706(+) GTTGT(A/G)GCGGA nc-transcript-variant, reference, stop-gained
rs121908985 Pathogenic 53,646,346(+) AAATG(-/G)AAGAT nc-transcript-variant, reference, frameshift-variant
rs587776949 Pathogenic 53,683,155(+) CCAAA(-/A)CCCAA nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs374491359 Likely pathogenic 53,646,306(+) TGCTC(A/C/G/T)CAATA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NDUFS4 Gene

Variant ID Type Subtype PubMed ID
dgv5666n100 CNV gain 25217958
esv2670735 CNV deletion 23128226
esv2678642 CNV deletion 23128226
esv3570145 CNV loss 25503493
esv3605072 CNV loss 21293372
esv3605073 CNV loss 21293372
esv3605074 CNV loss 21293372
esv3894190 CNV loss 25118596
esv5622 OTHER inversion 19470904
nsv4828 CNV deletion 18451855
nsv823073 CNV gain 20364138
nsv830298 CNV gain 17160897

Variation tolerance for NDUFS4 Gene

Residual Variation Intolerance Score: 58.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS4 Gene

Human Gene Mutation Database (HGMD)
NDUFS4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS4 Gene

Disorders for NDUFS4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for NDUFS4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
landau-kleffner syndrome
  • acquired epileptic aphasia
early-onset schizophrenia
  • early onset schizophrenia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS4_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:9463323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NDUFS4 Gene

mitochondrial encephalomyopathy,characterized by vomiting,failure to thrive,hypotonia,fatal progressive evolution with normal muscle morphology and without increased lactate concentration

Relevant External Links for NDUFS4

Genetic Association Database (GAD)
NDUFS4
Human Genome Epidemiology (HuGE) Navigator
NDUFS4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS4
genes like me logo Genes that share disorders with NDUFS4: view

Publications for NDUFS4 Gene

  1. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. (PMID: 9463323) van den Heuvel L. … Smeitink J. (Am. J. Hum. Genet. 1998) 2 3 4 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64
  4. NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. (PMID: 19364667) Leshinsky-Silver E. … Lerman-Sagie T. (Mol. Genet. Metab. 2009) 3 22 64
  5. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr J.M. … Deary I.J. (Mech. Ageing Dev. 2008) 3 46 64

Products for NDUFS4 Gene

Sources for NDUFS4 Gene

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