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Aliases for COX5A Gene

Aliases for COX5A Gene

  • Cytochrome C Oxidase Subunit 5A 2 3 5
  • Cytochrome C Oxidase Polypeptide Va 3 4
  • Cytochrome C Oxidase Subunit Va 2 3
  • Cytochrome C Oxidase Polypeptide, Mitochondrial 3
  • Cytochrome C Oxidase Subunit 5A, Mitochondrial 3
  • Mitochondrial Cytochrome C Oxidase Subunit Va 3
  • COX-VA 3
  • COX 3
  • VA 3

External Ids for COX5A Gene

Previous GeneCards Identifiers for COX5A Gene

  • GC15M071071
  • GC15M068327
  • GC15M072788
  • GC15M072928
  • GC15M072999
  • GC15M075212
  • GC15M052009

Summaries for COX5A Gene

Entrez Gene Summary for COX5A Gene

  • Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX5A Gene

COX5A (Cytochrome C Oxidase Subunit 5A) is a Protein Coding gene. Diseases associated with COX5A include Mitochondrial Complex Iv Deficiency and Chronic Progressive External Ophthalmoplegia. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot for COX5A Gene

  • This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Additional gene information for COX5A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX5A Gene

Genomics for COX5A Gene

GeneHancer (GH) Regulatory Elements for COX5A Gene

Promoters and enhancers for COX5A 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
GH15J074936 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.5 497 2.6 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 COX5A SIN3A ENSG00000260274 MAN2C1 EDC3 FBXO22 RPP25 DNM1P35 CLK3 ENSG00000203392
GH15J074773 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.8 +164.2 164246 0.9 SOX13 CEBPA CEBPB CEBPG BCL6 CPLX3 LMAN1L COX5A FAM219B MPI SCAMP5 PTPN9 CSK CYP1A2
GH15J074626 Enhancer 0.7 ENCODE dbSUPER 10.6 +310.9 310856 2.1 HIC1 ZNF687 POLR2A NFATC1 EBF1 ZNF600 SPI1 GC15P074629 CYP1A1 CSK COX5A ENSG00000212279 FAM219B LOC101929333 SCAMP2 ENSG00000260919 CLK3
GH15J074630 Enhancer 0.5 ENCODE 10.6 +307.6 307593 0.2 ZNF687 POLR2A MAX EBF1 MEF2B ZNF24 SUPT5H GC15P074629 CYP1A1 CSK COX5A ENSG00000212279 FAM219B CLK3 EDC3
GH15J074622 Enhancer 0.5 dbSUPER 10.6 +313.8 313847 3.5 KLF1 POLR2A MNT ZNF600 ZIC2 CSK CYP1A1 ENSG00000212279 COX5A ULK3 UBL7-AS1 UBL7 FAM219B LOC101929333 SCAMP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX5A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX5A gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • p53
  • Max1
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • Spz1

Genomic Locations for COX5A Gene

Genomic Locations for COX5A Gene
18,378 bases
Minus strand
18,378 bases
Minus strand

Genomic View for COX5A Gene

Genes around COX5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX5A Gene

Proteins for COX5A Gene

  • Protein details for COX5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome c oxidase subunit 5A, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • P30045
    • Q8TB65

    Protein attributes for COX5A Gene

    150 amino acids
    Molecular mass:
    16762 Da
    Quaternary structure:
    • Interacts with AFG1L (PubMed:26759378).

neXtProt entry for COX5A Gene

Post-translational modifications for COX5A Gene

  • Ubiquitination at posLast=6262
  • Modification sites at PhosphoSitePlus

Other Protein References for COX5A Gene

No data available for DME Specific Peptides for COX5A Gene

Domains & Families for COX5A Gene

Gene Families for COX5A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for COX5A Gene

Suggested Antigen Peptide Sequences for COX5A Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome c oxidase subunit 5A family.
  • Belongs to the cytochrome c oxidase subunit 5A family.
genes like me logo Genes that share domains with COX5A: view

Function for COX5A Gene

Molecular function for COX5A Gene

UniProtKB/Swiss-Prot Function:
This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
GENATLAS Biochemistry:
cytochrome c oxidase,subunit Va,component of the complex IV,terminal enzyme complex for electron transfer,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for COX5A Gene

Gene Ontology (GO) - Molecular Function for COX5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0009055 electron transfer activity TAS 2853101
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COX5A: view
genes like me logo Genes that share phenotypes with COX5A: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX5A Gene

Localization for COX5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX5A Gene

Mitochondrion inner membrane.

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 COX5A gene
Compartment Confidence
extracellular 5
mitochondrion 5
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for COX5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IDA,TAS --
GO:0005751 mitochondrial respiratory chain complex IV IMP 19393246
GO:0016020 membrane IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with COX5A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX5A Gene

Pathways & Interactions for COX5A Gene

genes like me logo Genes that share pathways with COX5A: view

Gene Ontology (GO) - Biological Process for COX5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS,IBA --
GO:0022900 electron transport chain IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX5A: view

No data available for SIGNOR curated interactions for COX5A Gene

Drugs & Compounds for COX5A Gene

(82) Drugs for COX5A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Target 0
N-Formylmethionine Experimental Pharma Target 0
Alpha-D-Glucose 1,6-bisphosphate Experimental Pharma 0
heme Pharma Agonist 0

(57) Additional Compounds for COX5A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
genes like me logo Genes that share compounds with COX5A: view

Transcripts for COX5A Gene

mRNA/cDNA for COX5A Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(358) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COX5A Gene

Cytochrome c oxidase subunit Va:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX5A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b
SP1: - -
SP3: -
SP4: - - - - -

Relevant External Links for COX5A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COX5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX5A Gene

mRNA differential expression in normal tissues according to GTEx for COX5A Gene

This gene is overexpressed in Heart - Left Ventricle (x7.1) and Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for COX5A Gene

This gene is overexpressed in Nasal epithelium (23.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX5A Gene

Protein tissue co-expression partners for COX5A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX5A Gene:


SOURCE GeneReport for Unigene cluster for COX5A Gene:


Evidence on tissue expression from TISSUES for COX5A Gene

  • Heart(4.8)
  • Nervous system(4.8)
  • Liver(4.6)
  • Muscle(3.5)
  • Blood(3.2)
  • Intestine(3)
  • Kidney(2.9)
  • Lung(2.7)
  • Skin(2.7)
  • Stomach(2.6)
  • Lymph node(2.5)
  • Gall bladder(2.4)
  • Adrenal gland(2.2)
  • Pancreas(2.2)
  • Eye(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with COX5A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX5A Gene

Orthologs for COX5A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COX5A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COX5A 34 33
  • 99.11 (n)
(Canis familiaris)
Mammalia COX5A 33
  • 93.43 (n)
-- 34
  • 88 (a)
-- 34
  • 87 (a)
(Bos Taurus)
Mammalia COX5A 34 33
  • 90.22 (n)
(Rattus norvegicus)
Mammalia Cox5a 33
  • 88.13 (n)
(Mus musculus)
Mammalia Cox5a 16 34 33
  • 87.9 (n)
(Monodelphis domestica)
Mammalia COX5A 34
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia COX5A 34
  • 77 (a)
(Gallus gallus)
Aves COX5A 34 33
  • 80.82 (n)
(Anolis carolinensis)
Reptilia COX5A 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cox5a 33
  • 74.38 (n)
Str.6885 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24153 33
(Danio rerio)
Actinopterygii cox5ab 34
  • 66 (a)
cox5aa 34 34 33
  • 64.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6286 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011159 33
  • 60.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CoVa 34 35 33
  • 56.02 (n)
(Caenorhabditis elegans)
Secernentea cco-2 34 33
  • 58.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX6 36 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4863 34
  • 49 (a)
Species where no ortholog for COX5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 COX5A Gene

Gene Tree for COX5A (if available)
Gene Tree for COX5A (if available)
Evolutionary constrained regions (ECRs) for COX5A: view image

Paralogs for COX5A Gene

genes like me logo Genes that share paralogs with COX5A: view

No data available for Paralogs for COX5A Gene

Variants for COX5A Gene

Sequence variations from dbSNP and Humsavar for COX5A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000058711 -- 74,933,697(-) A/G intron_variant
rs1000101425 -- 74,926,271(-) A/C intron_variant
rs1000211607 -- 74,922,310(-) C/T intron_variant
rs1000242851 -- 74,922,043(-) T/C intron_variant
rs1000531178 -- 74,921,111(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COX5A Gene

Variant ID Type Subtype PubMed ID
esv2595466 CNV deletion 19546169
nsv1121512 CNV deletion 24896259
nsv1131201 CNV deletion 24896259
nsv1131202 CNV deletion 24896259
nsv1134471 CNV deletion 24896259

Variation tolerance for COX5A Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX5A Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX5A Gene

Disorders for COX5A Gene

MalaCards: The human disease database

(23) MalaCards diseases for COX5A Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
chronic progressive external ophthalmoplegia
  • progressive external ophthalmoplegia
  • swayback of sheep
acquired idiopathic sideroblastic anemia
  • aisa
  • leucocoria
- elite association - COSMIC cancer census association via MalaCards
Search COX5A in MalaCards View complete list of genes associated with diseases


  • Note=Mitochondrial complex IV deficiency is a rare condition caused by mutation in COX5A that lead to pulmonary arterial hypertension (PAH), failure to thrive and lactic acidemia. {ECO:0000269 PubMed:28247525}.

Additional Disease Information for COX5A

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 COX5A: view

No data available for Genatlas for COX5A Gene

Publications for COX5A Gene

  1. Subunit Va of human and bovine cytochrome c oxidase is highly conserved. (PMID: 2853101) Rizzuto R … Schon EA (Gene 1988) 2 3 4 58
  2. Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. (PMID: 28247525) Baertling F … Rodenburg RJ (Human mutation 2017) 3 4 58
  3. The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits. (PMID: 26759378) Cesnekova J … Stiburek L (The Biochemical journal 2016) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Involvement of cytochrome c oxidase subunits Va and Vb in the regulation of cancer cell metabolism by Bcl-2. (PMID: 19834492) Chen ZX … Pervaiz S (Cell death and differentiation 2010) 3 22 58

Products for COX5A Gene

Sources for COX5A Gene

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