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Aliases for NDUFA5 Gene

Aliases for NDUFA5 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A5 2 3 5
  • NADH-Ubiquinone Oxidoreductase 13 KDa-B Subunit 2 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5, 13kDa 2 3
  • Complex I 13kDa Subunit B 2 3
  • Complex I Subunit B13 3 4
  • Type I Dehydrogenase 2 3
  • Ubiquinone Reductase 2 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5 (13kD, B13) 2
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 5 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5 2
  • Complex I-13kD-B 4
  • CI-13KD-B 3
  • CI-13kD-B 4
  • CI-13kB 3
  • UQOR13 3
  • NUFM 3
  • B13 3

External Ids for NDUFA5 Gene

Previous GeneCards Identifiers for NDUFA5 Gene

  • GC07M121658
  • GC07M122721
  • GC07M122735
  • GC07M122775
  • GC07M122964
  • GC07M123177
  • GC07M117543

Summaries for NDUFA5 Gene

Entrez Gene Summary for NDUFA5 Gene

  • This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]

GeneCards Summary for NDUFA5 Gene

NDUFA5 (NADH:Ubiquinone Oxidoreductase Subunit A5) is a Protein Coding gene. Diseases associated with NDUFA5 include Leber Hereditary Optic Neuropathy and Korean Hemorrhagic Fever. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and oxidoreductase activity, acting on NAD(P)H.

UniProtKB/Swiss-Prot for NDUFA5 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 NDUFA5 Gene

Additional gene information for NDUFA5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA5 Gene

Genomics for NDUFA5 Gene

GeneHancer (GH) Regulatory Elements for NDUFA5 Gene

Promoters and enhancers for NDUFA5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J123556 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 659.3 +44.1 44094 2.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B IRF4 YY1 NDUFA5 IQUB ENSG00000272686 HYAL4 ASB15
GH07J123602 Enhancer 0.6 dbSUPER 650.7 -1.2 -1240 0.4 MAFG BACH1 ZMYM3 ZNF316 HMBOX1 NFE2 EMSY MAFK NDUFA5 ENSG00000230442 LMOD2 ASB15 IQUB LOC102724555
GH07J123599 Enhancer 0.4 dbSUPER 660.5 +1.9 1876 1.1 CEBPB HMBOX1 ZNF354B NDUFA5 ENSG00000272686 ENSG00000230442 LMOD2 ASB15
GH07J123601 Enhancer 0.4 ENCODE dbSUPER 650.7 -0.1 -131 0.2 NDUFA5 ENSG00000230442 LMOD2 ASB15 LOC102724555
GH07J123533 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 8.7 +66.8 66832 1.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B YY1 POLR2B GLIS2 IQUB NDUFA5 HYAL4 GC07M123458 RNU6-296P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA5 gene promoter:
  • FOXO3b
  • FOXO3a
  • FOXO3
  • NF-1/L
  • NF-1
  • FOXO4
  • c-Jun
  • c-Fos
  • AP-1
  • C/EBPbeta

Genomic Locations for NDUFA5 Gene

Genomic Locations for NDUFA5 Gene
64,655 bases
Minus strand
21,259 bases
Minus strand

Genomic View for NDUFA5 Gene

Genes around NDUFA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA5 Gene

Proteins for NDUFA5 Gene

  • Protein details for NDUFA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5
    Protein Accession:
    Secondary Accessions:
    • B2RD98
    • Q5H9R2
    • Q6IRX7

    Protein attributes for NDUFA5 Gene

    116 amino acids
    Molecular mass:
    13459 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFA5 Gene

    Alternative splice isoforms for NDUFA5 Gene


neXtProt entry for NDUFA5 Gene

Post-translational modifications for NDUFA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NDUFA5 Gene

Domains & Families for NDUFA5 Gene

Gene Families for NDUFA5 Gene

Protein Domains for NDUFA5 Gene


Suggested Antigen Peptide Sequences for NDUFA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the complex I NDUFA5 subunit family.
  • Belongs to the complex I NDUFA5 subunit family.
genes like me logo Genes that share domains with NDUFA5: view

Function for NDUFA5 Gene

Molecular function for NDUFA5 Gene

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.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),component alpha 5,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),13kDa,,homologous to bovine and rat subunit B13

Gene Ontology (GO) - Molecular Function for NDUFA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24344204
GO:0008137 NADH dehydrogenase (ubiquinone) activity TAS,NAS 9878551
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
genes like me logo Genes that share ontologies with NDUFA5: view
genes like me logo Genes that share phenotypes with NDUFA5: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA5 Gene

Localization for NDUFA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA5 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

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 NDUFA5 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for NDUFA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0045271 respiratory chain complex I IEA --
genes like me logo Genes that share ontologies with NDUFA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFA5 Gene

Pathways & Interactions for NDUFA5 Gene

genes like me logo Genes that share pathways with NDUFA5: view

Gene Ontology (GO) - Biological Process for NDUFA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0022904 respiratory electron transport chain IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA5: view

No data available for SIGNOR curated interactions for NDUFA5 Gene

Drugs & Compounds for NDUFA5 Gene

(8) Drugs for NDUFA5 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NAD Pharma Full agonist, Agonist, Activator 0

(7) Additional Compounds for NDUFA5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
genes like me logo Genes that share compounds with NDUFA5: view

Transcripts for NDUFA5 Gene

Unigene Clusters for NDUFA5 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP6: - - -
SP7: - - - - - - -

Relevant External Links for NDUFA5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NDUFA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFA5 Gene

Protein differential expression in normal tissues from HIPED for NDUFA5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.4) and Heart (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFA5 Gene

Protein tissue co-expression partners for NDUFA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFA5 Gene:


SOURCE GeneReport for Unigene cluster for NDUFA5 Gene:


mRNA Expression by UniProt/SwissProt for NDUFA5 Gene:

Tissue specificity: Expressed in all tissues examined with highest levels in heart, skeletal muscle and brain.

Evidence on tissue expression from TISSUES for NDUFA5 Gene

  • Muscle(4.7)
  • Nervous system(4.7)
  • Eye(4.4)
  • Liver(4.4)
  • Lung(4.3)
  • Kidney(3.1)
  • Heart(2.5)
  • Pancreas(2.5)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with NDUFA5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA5 Gene

Orthologs for NDUFA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NDUFA5 34 33
  • 100 (n)
(Canis familiaris)
Mammalia -- 34
  • 91 (a)
  • 90.8 (n)
-- 34
  • 87 (a)
(Bos Taurus)
Mammalia NDUFA5 34 33
  • 87.93 (n)
(Ornithorhynchus anatinus)
Mammalia NDUFA5 34
  • 86 (a)
(Mus musculus)
Mammalia Ndufa5 16 34 33
  • 83.62 (n)
(Rattus norvegicus)
Mammalia Ndufa5 33
  • 83.33 (n)
(Monodelphis domestica)
Mammalia NDUFA5 34
  • 77 (a)
(Gallus gallus)
Aves NDUFA5 34 33
  • 73.56 (n)
(Anolis carolinensis)
Reptilia NDUFA5 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa5 33
  • 68.97 (n)
Str.15481 33
(Danio rerio)
Actinopterygii ndufa5 34 33
  • 63.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005621 33
  • 56.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6463 34 33
  • 53.62 (n)
(Caenorhabditis elegans)
Secernentea CELE_C33A12.1 33
  • 56.76 (n)
C33A12.1 34 35
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2952 34
  • 44 (a)
Species where no ortholog for NDUFA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for NDUFA5 Gene

Gene Tree for NDUFA5 (if available)
Gene Tree for NDUFA5 (if available)
Evolutionary constrained regions (ECRs) for NDUFA5: view image

Paralogs for NDUFA5 Gene

(1) SIMAP similar genes for NDUFA5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NDUFA5: view

No data available for Paralogs for NDUFA5 Gene

Variants for NDUFA5 Gene

Sequence variations from dbSNP and Humsavar for NDUFA5 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000037413 -- 123,583,351(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000061682 -- 123,599,846(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000073837 -- 123,554,952(-) G/T intron_variant
rs1000099657 -- 123,536,770(-) A/C downstream_transcript_variant
rs1000115003 -- 123,599,508(-) C/ genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA5 Gene

Variant ID Type Subtype PubMed ID
esv3306469 CNV mobile element insertion 20981092
esv3400241 CNV insertion 20981092
esv3614856 CNV loss 21293372
esv3614858 CNV loss 21293372
esv3891198 CNV gain 25118596
nsv508479 CNV deletion 20534489
nsv524192 CNV gain 19592680
nsv824295 CNV gain 20364138
nsv831116 CNV gain+loss 17160897
nsv970575 CNV duplication 23825009
nsv981574 CNV duplication 23825009

Variation tolerance for NDUFA5 Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA5 Gene

Disorders for NDUFA5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFA5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber hereditary optic neuropathy
  • leber optic atrophy
korean hemorrhagic fever
  • hemorrhagic fever with renal syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFA5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFA5 Gene

Publications for NDUFA5 Gene

  1. Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15. (PMID: 9021153) Russell MW … Brody LC (Mammalian genome : official journal of the International Mammalian Genome Society 1997) 2 3 4 58
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 58
  3. Gene expression patterns of oxidative phosphorylation complex I subunits are organized in clusters. (PMID: 20376309) Garbian Y … Mishmar D (PloS one 2010) 3 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for NDUFA5 Gene

Sources for NDUFA5 Gene

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