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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
  • 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 nuclear gene-encoded leigh syndrome and dysphagia. Among its related pathways are Alzheimer's disease and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for NDUFA4 Gene at MOPED

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:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NDUFA4

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
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
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

Unigene Clusters for NDUFA4 Gene

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

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, MOPED, and MaxQB for NDUFA4 Gene



SOURCE GeneReport for Unigene cluster for NDUFA4 Gene Hs.50098

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

Protein tissue co-expression partners for NDUFA4 Gene

- Elite partner

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 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

(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
rs6961268 -- 10,940,290(+) TCGGA(A/C)CATCA upstream-variant-2KB
rs6961269 -- 10,940,291(+) CGGAC(A/C/T)ATCAT upstream-variant-2KB
rs6962008 -- 10,940,595(+) GAGCC(A/G)AGCGC upstream-variant-2KB
rs12667351 -- 10,935,995(+) GAGTG(C/G)CAGGT intron-variant
rs12667441 -- 10,936,430(+) CTTTG(A/G)TGGAA 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

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

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

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

Disorder Aliases PubMed IDs
nuclear gene-encoded leigh syndrome
dysphagia
  • deglutition disorders
dandy-walker syndrome
  • atresia of foramina of magendie and luschka
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. 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 67
  2. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for NDUFA4 Gene

Sources for NDUFA4 Gene

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