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Aliases for NDUFA4 Gene

Aliases for NDUFA4 Gene

  • NDUFA4, Mitochondrial Complex Associated 2 3 5
  • NADH-Ubiquinone Oxidoreductase MLRQ Subunit 2 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4, 9kDa 2 3
  • Complex I 9kDa Subunit 2 3
  • Complex I-MLRQ 3 4
  • CI-MLRQ 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4 (9kD, MLRQ) 2
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 4 3
  • Cytochrome C Oxidase Subunit NDUFA4 3
  • CI-9k 3
  • MLRQ 3

External Ids for NDUFA4 Gene

Previous GeneCards Identifiers for NDUFA4 Gene

  • GC07M010617
  • GC07M010717
  • GC07M010746

Summaries for NDUFA4 Gene

Entrez Gene Summary for NDUFA4 Gene

  • The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

GeneCards Summary for NDUFA4 Gene

NDUFA4 (NDUFA4, Mitochondrial Complex Associated) is a Protein Coding gene. Diseases associated with NDUFA4 include Dandy-Walker Syndrome and Nuclear Gene-Encoded Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Regulation of TP53 Activity. GO annotations related to this gene include protein complex binding and cytochrome-c oxidase activity. An important paralog of this gene is NDUFA4L2.

UniProtKB/Swiss-Prot for NDUFA4 Gene

  • Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA4 Gene

Genomics for NDUFA4 Gene

Regulatory Elements for NDUFA4 Gene

Enhancers for NDUFA4 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around NDUFA4 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFA4 Gene

Chromosome:
7
Start:
10,931,951 bp from pter
End:
10,940,256 bp from pter
Size:
8,306 bases
Orientation:
Minus strand

Genomic View for NDUFA4 Gene

Genes around NDUFA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA4 Gene

Proteins for NDUFA4 Gene

  • Protein details for NDUFA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00483-NDUA4_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit NDUFA4
    Protein Accession:
    O00483
    Secondary Accessions:
    • A4D109
    • Q6FHN5

    Protein attributes for NDUFA4 Gene

    Size:
    81 amino acids
    Molecular mass:
    9370 Da
    Quaternary structure:
    • Component of the cytochrome c oxidase complex (COX, complex IV).
    Miscellaneous:
    • During complex IV purifications dissociates from complex IV upon treatment with standard detergent DDM (decyl beta-D-maltoside) in high concentrations (PubMed:22902835, PubMed:23746447).

neXtProt entry for NDUFA4 Gene

Post-translational modifications for NDUFA4 Gene

  • Ubiquitination at Lys 55, Lys 63, Lys 73, and Lys 75
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA4 Gene

Domains & Families for NDUFA4 Gene

Protein Domains for NDUFA4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00483

UniProtKB/Swiss-Prot:

NDUA4_HUMAN :
  • Belongs to the complex IV NDUFA4 subunit family.
Family:
  • Belongs to the complex IV NDUFA4 subunit family.
genes like me logo Genes that share domains with NDUFA4: view

No data available for Gene Families for NDUFA4 Gene

Function for NDUFA4 Gene

Molecular function for NDUFA4 Gene

UniProtKB/Swiss-Prot Function:
Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance.

Gene Ontology (GO) - Molecular Function for NDUFA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 contributes_to cytochrome-c oxidase activity IMP 22902835
GO:0005515 protein binding IPI 19822128
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
GO:0032403 protein complex binding IDA 23209302
genes like me logo Genes that share ontologies with NDUFA4: view
genes like me logo Genes that share phenotypes with NDUFA4: view

Human Phenotype Ontology for NDUFA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA4 Gene

Localization for NDUFA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA4 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFA4 Gene COMPARTMENTS Subcellular localization image for NDUFA4 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NDUFA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 16729965
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005751 mitochondrial respiratory chain complex IV IEA,IDA 22902835
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NDUFA4: view

Pathways & Interactions for NDUFA4 Gene

genes like me logo Genes that share pathways with NDUFA4: view

Gene Ontology (GO) - Biological Process for NDUFA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9878551
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS --
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with NDUFA4: view

No data available for SIGNOR curated interactions for NDUFA4 Gene

Drugs & Compounds for NDUFA4 Gene

(5) Drugs for NDUFA4 Gene - From: DrugBank and HMDB

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
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for NDUFA4 Gene - From: 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
genes like me logo Genes that share compounds with NDUFA4: view

Transcripts for NDUFA4 Gene

mRNA/cDNA for NDUFA4 Gene

Unigene Clusters for NDUFA4 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA4 Gene

No ASD Table

Relevant External Links for NDUFA4 Gene

GeneLoc Exon Structure for
NDUFA4
ECgene alternative splicing isoforms for
NDUFA4

Expression for NDUFA4 Gene

mRNA expression in normal human tissues for NDUFA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFA4 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for NDUFA4 Gene

This gene is overexpressed in Nasal epithelium (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFA4 Gene



Protein tissue co-expression partners for NDUFA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFA4 Gene:

NDUFA4

SOURCE GeneReport for Unigene cluster for NDUFA4 Gene:

Hs.50098
genes like me logo Genes that share expression patterns with NDUFA4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for NDUFA4 Gene

Orthologs for NDUFA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFA4 34
  • 89.3 (n)
  • 88.89 (a)
NDUFA4 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA4 34
  • 90.12 (n)
  • 91.36 (a)
-- 35
  • 87 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ndufa4 34
  • 86.42 (n)
  • 88.89 (a)
Ndufa4 16
Ndufa4 35
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFA4 34
  • 100 (n)
  • 100 (a)
NDUFA4 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa4 34
  • 85.6 (n)
  • 88.89 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFA4 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA4 34
  • 76.13 (n)
  • 76.54 (a)
NDUFA4 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa4 34
  • 65.02 (n)
  • 58.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23855 34
zebrafish
(Danio rerio)
Actinopterygii ndufa4 34
  • 64.61 (n)
  • 74.07 (a)
ndufa4 35
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32230 35
  • 51 (a)
OneToMany
Species where no ortholog for NDUFA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFA4 Gene

ENSEMBL:
Gene Tree for NDUFA4 (if available)
TreeFam:
Gene Tree for NDUFA4 (if available)

Paralogs for NDUFA4 Gene

Paralogs for NDUFA4 Gene

(2) SIMAP similar genes for NDUFA4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NDUFA4: view

Variants for NDUFA4 Gene

Sequence variations from dbSNP and Humsavar for NDUFA4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2270261 -- 10,940,096(-) TAGGT(C/G/T)GGTTC utr-variant-5-prime
rs2286978 -- 10,939,162(-) AAAAA(A/T)GTACC intron-variant
rs7789764 -- 10,933,735(+) ATACA(C/T)AGAGA intron-variant
rs7798669 -- 10,931,709(+) TGTTA(C/T)CTTTC downstream-variant-500B
rs7811647 -- 10,931,553(+) ttgaa(C/T)tcagg downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NDUFA4 Gene

Variant ID Type Subtype PubMed ID
esv2752140 CNV gain 17911159
esv3891050 CNV gain 25118596
esv3891051 CNV loss 25118596
nsv1017291 CNV loss 25217958
nsv1019888 CNV gain 25217958
nsv1027289 CNV loss 25217958
nsv1029882 CNV loss 25217958
nsv1161498 CNV deletion 26073780
nsv464364 CNV loss 19166990
nsv606187 CNV gain 21841781
nsv606193 CNV loss 21841781
nsv970794 CNV duplication 23825009

Variation tolerance for NDUFA4 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA4 Gene

Human Gene Mutation Database (HGMD)
NDUFA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA4 Gene

Disorders for NDUFA4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NDUFA4 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dandy-walker syndrome
  • atresia of foramina of magendie and luschka
nuclear gene-encoded leigh syndrome
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUA4_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:23746447}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFA4

Genetic Association Database (GAD)
NDUFA4
Human Genome Epidemiology (HuGE) Navigator
NDUFA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA4
genes like me logo Genes that share disorders with NDUFA4: view

No data available for Genatlas for NDUFA4 Gene

Publications for NDUFA4 Gene

  1. NDUFA4 is a subunit of complex IV of the mammalian electron transport chain. (PMID: 22902835) Balsa E. … Enriquez J.A. (Cell Metab. 2012) 2 3 4 65
  2. Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit. (PMID: 9352085) Kim J.W. … Choe I.S. (Biochem. Mol. Biol. Int. 1997) 2 3 4 65
  3. NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. (PMID: 23746447) Pitceathly R.D. … Hanna M.G. (Cell Rep. 2013) 3 4 65
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for NDUFA4 Gene

Sources for NDUFA4 Gene

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