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Aliases for NDUFA4 Gene

Aliases for NDUFA4 Gene

  • NDUFA4, Mitochondrial Complex Associated 2 3
  • 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 isolated cytochrome c oxidase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity 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

Genomic Location for NDUFA4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NDUFA4 Gene at MOPED

Post-translational modifications for NDUFA4 Gene

  • Ubiquitination at Lys55, Lys63, Lys73, and Lys75
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NDUFA4

No data available for DME Specific Peptides for NDUFA4 Gene

Domains 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 :
  • O00483
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

Phenotypes for NDUFA4 Gene

GenomeRNAi human phenotypes for NDUFA4:
genes like me logo Genes that share phenotypes with NDUFA4: view

Animal Model Products

miRNA for NDUFA4 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFA4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
mitochondrion 5
cytosol 1
extracellular 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 IDA 16729965
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005751 mitochondrial respiratory chain complex IV IDA 22902835
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NDUFA4: view

Pathways for NDUFA4 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Mitochondrial Energy Metabolism in human,mouse,rat

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:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:1902600 hydrogen ion transmembrane transport IMP 22902835
genes like me logo Genes that share ontologies with NDUFA4: view

Compounds for NDUFA4 Gene

(8) HMDB Compounds for NDUFA4 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(1) Drugbank Compounds for NDUFA4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFA4

Primer 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 (4.4).

Protein differential expression in normal tissues for NDUFA4 Gene

This gene is overexpressed in Nasal epithelium (14.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFA4 Gene

SOURCE GeneReport for Unigene cluster for NDUFA4 Gene Hs.50098

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

Expression partners for NDUFA4 Gene

In Situ Assay 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 35
  • 89.3 (n)
  • 88.89 (a)
NDUFA4 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA4 35
  • 90.12 (n)
  • 91.36 (a)
-- 36
  • 87 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ndufa4 35
  • 86.42 (n)
  • 88.89 (a)
Ndufa4 16
Ndufa4 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFA4 35
  • 100 (n)
  • 100 (a)
NDUFA4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa4 35
  • 85.6 (n)
  • 88.89 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFA4 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA4 35
  • 76.13 (n)
  • 76.54 (a)
NDUFA4 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa4 35
  • 65.02 (n)
  • 58.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23855 35
zebrafish
(Danio rerio)
Actinopterygii ndufa4 35
  • 64.61 (n)
  • 74.07 (a)
ndufa4 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32230 36
  • 51 (a)
OneToMany
Species with no ortholog for NDUFA4:
  • 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

Selected 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 MAF
rs170157 -- 10,937,694(-) TCTTC(C/T)AGAGA intron-variant
rs172657 -- 10,937,051(-) GTTTT(A/G/T)TTGTT intron-variant
rs172658 -- 10,936,976(-) tcact(A/G)cagcc intron-variant
rs218977 -- 10,936,879(-) tttgt(A/G)ttttt intron-variant
rs218978 -- 10,935,550(-) ATTGG(C/T)GTTTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv887600 CNV Gain 21882294
esv2752140 CNV Gain 17911159
nsv464364 CNV Loss 19166990
nsv887601 CNV Gain 21882294

Relevant External Links for NDUFA4 Gene

HapMap Linkage Disequilibrium report
NDUFA4
Human Gene Mutation Database (HGMD)
NDUFA4

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

Disorders for NDUFA4 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NDUFA4 Gene in MalaCards »

(2) Diseases for NDUFA4 Gene including...

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.

(1) University of Copenhagen DISEASES for NDUFA4 Gene

Relevant External Links for NDUFA4

Genetic Association Database (GAD)
NDUFA4
Human Genome Epidemiology (HuGE) Navigator
NDUFA4
genes like me logo Genes that share disorders with NDUFA4: view

No data available for OMIM , Novoseek inferred disease relationships and Genatlas for NDUFA4 Gene

Publications for NDUFA4 Gene

  1. 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
  2. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J. … Capaldi R.A. (J. Biol. Chem. 2003) 3 4
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  4. 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
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for NDUFA4 Gene

Sources for NDUFA4 Gene

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