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Aliases for MT-CO1 Gene

Aliases for MT-CO1 Gene

  • Mitochondrially Encoded Cytochrome C Oxidase I 2 5
  • EC 4 56
  • MTCO1 3 4
  • COI 3 4
  • Cytochrome C Oxidase Polypeptide I 4
  • Cytochrome C Oxidase Subunit I 3
  • Cytochrome C Oxidase I 2
  • COX1 3
  • COXI 4

External Ids for MT-CO1 Gene

Previous HGNC Symbols for MT-CO1 Gene

  • MTCO1

Previous GeneCards Identifiers for MT-CO1 Gene

  • GC00U921584
  • GCMTP005585

Summaries for MT-CO1 Gene

GeneCards Summary for MT-CO1 Gene

MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I) is a Protein Coding gene. Diseases associated with MT-CO1 include Acquired Idiopathic Sideroblastic Anemia and Mitochondrial Complex Iv Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include iron ion binding and electron transfer activity.

UniProtKB/Swiss-Prot for MT-CO1 Gene

  • Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B.

Gene Wiki entry for MT-CO1 Gene

Additional gene information for MT-CO1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-CO1 Gene

Genomics for MT-CO1 Gene

Genomic Locations for MT-CO1 Gene

Genomic Locations for MT-CO1 Gene
1,542 bases
Plus strand

Genomic View for MT-CO1 Gene

Genes around MT-CO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-CO1 Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-CO1 Gene

Proteins for MT-CO1 Gene

  • Protein details for MT-CO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome c oxidase subunit 1
    Protein Accession:
    Secondary Accessions:
    • Q34770

    Protein attributes for MT-CO1 Gene

    513 amino acids
    Molecular mass:
    57041 Da
    Quaternary structure:
    • As a newly synthesized protein, rapidly incorporates into a multi-subunit assembly intermediate in the inner membrane, called MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase) complex, whose core components are COA3/MITRAC12 and COX14. Within the MITRAC complex, interacts with COA3 and with SMIM20/MITRAC7; the interaction with SMIM20 stabilizes the newly synthesized MT-CO1 and prevents its premature turnover.

neXtProt entry for MT-CO1 Gene

Selected DME Specific Peptides for MT-CO1 Gene


Post-translational modifications for MT-CO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-CO1 Gene

ENSEMBL proteins:

Domains & Families for MT-CO1 Gene

Gene Families for MT-CO1 Gene

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the heme-copper respiratory oxidase family.
  • Belongs to the heme-copper respiratory oxidase family.
genes like me logo Genes that share domains with MT-CO1: view

Function for MT-CO1 Gene

Molecular function for MT-CO1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4 ferrocytochrome c + O(2) + 4 H(+) = 4 ferricytochrome c + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B.

Enzyme Numbers (IUBMB) for MT-CO1 Gene

Gene Ontology (GO) - Molecular Function for MT-CO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 contributes_to cytochrome-c oxidase activity IMP 12140182
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 12762840
GO:0009055 electron transfer activity IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with MT-CO1: view
genes like me logo Genes that share phenotypes with MT-CO1: view

Human Phenotype Ontology for MT-CO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-CO1 Gene

Localization for MT-CO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-CO1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

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 MT-CO1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 3
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MT-CO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IDA 23168492
GO:0005751 mitochondrial respiratory chain complex IV IEA,IMP 19393246
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MT-CO1: view

Pathways & Interactions for MT-CO1 Gene

genes like me logo Genes that share pathways with MT-CO1: view

UniProtKB/Swiss-Prot P00395-COX1_HUMAN

  • Pathway: Energy metabolism; oxidative phosphorylation.

Gene Ontology (GO) - Biological Process for MT-CO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IEA --
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS,IBA --
GO:0006979 response to oxidative stress IEA --
GO:0007568 aging IEA --
GO:0009060 aerobic respiration IBA,IEA --
genes like me logo Genes that share ontologies with MT-CO1: view

No data available for SIGNOR curated interactions for MT-CO1 Gene

Drugs & Compounds for MT-CO1 Gene

(11) Drugs for MT-CO1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma Target, agonist, activator 0
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Copper Approved, Investigational Pharma Enzyme, cofactor 202
sodium fluoride Approved Pharma Enzyme, inhibitor 212
Water Approved Pharma 0

(10) Additional Compounds for MT-CO1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with MT-CO1: view

Transcripts for MT-CO1 Gene

mRNA/cDNA for MT-CO1 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-CO1 Gene

No ASD Table

Relevant External Links for MT-CO1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MT-CO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MT-CO1 Gene

mRNA differential expression in normal tissues according to GTEx for MT-CO1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for MT-CO1 Gene

This gene is overexpressed in Monocytes (12.8), Adrenal (8.7), Heart (8.6), and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MT-CO1 Gene

Protein tissue co-expression partners for MT-CO1 Gene

- Elite partner

Evidence on tissue expression from TISSUES for MT-CO1 Gene

  • Muscle(4.5)
  • Heart(4.4)
  • Kidney(4.1)
  • Liver(4.1)
  • Skin(4.1)
  • Nervous system(4.1)
  • Adrenal gland(3.9)
  • Intestine(3.9)
  • Lung(3.8)
  • Stomach(3.8)
  • Gall bladder(3.7)
  • Thyroid gland(3.6)
  • Lymph node(3.5)
  • Pancreas(3.5)
  • Bone marrow(3.4)
  • Spleen(3.4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with MT-CO1: 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 MT-CO1 Gene

Orthologs for MT-CO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MT-CO1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MT-CO1 34
  • 99 (a)
COX1 33
  • 91.29 (n)
(Mus musculus)
Mammalia mt-Co1 16 34
  • 91 (a)
COX1 33
  • 77.93 (n)
(Ornithorhynchus anatinus)
Mammalia MT-CO1 34
  • 90 (a)
(Monodelphis domestica)
Mammalia COI 34
  • 89 (a)
(Bos Taurus)
Mammalia COX1 33 34
  • 79.36 (n)
(Rattus norvegicus)
Mammalia COX1 33
  • 78.39 (n)
(Canis familiaris)
Mammalia COX1 33 34
  • 77.3 (n)
(Gallus gallus)
Aves MT-CO1 34
  • 84 (a)
COX1 33
  • 77.19 (n)
(Anolis carolinensis)
Reptilia COX1 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia COX1 33
  • 75.72 (n)
Str.7294 33
(Danio rerio)
Actinopterygii mt-co1 34
  • 85 (a)
COX1 33
  • 74.35 (n)
Dr.2007 33
fruit fly
(Drosophila melanogaster)
Insecta mt:CoI 34
  • 75 (a)
COX1 33
  • 66.6 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta COX1 33
  • 66.47 (n)
(Caenorhabditis elegans)
Secernentea MTCE.26 34
  • 59 (a)
COX1 33
  • 57.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX1 33 34 36
  • 59.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes COX1 33
  • 58.93 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AMI002W 33
  • 58.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons cox1 33
  • 61.75 (n)
(Oryza sativa)
Liliopsida Os.23516 33
(Triticum aestivum)
Liliopsida Ta.20641 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 69 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox1 33
  • 57.52 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4242 33
Species where no ortholog for MT-CO1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MT-CO1 Gene

Gene Tree for MT-CO1 (if available)
Gene Tree for MT-CO1 (if available)

Paralogs for MT-CO1 Gene

(6) SIMAP similar genes for MT-CO1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-CO1: view

No data available for Paralogs for MT-CO1 Gene

Variants for MT-CO1 Gene

Sequence variations from dbSNP and Humsavar for MT-CO1 Gene

SNP ID Clin Chr MT pos Variation AA Info Type
rs1057516059 uncertain-significance, Developmental delay, Seizure Disorders 4,664(+) C/T
rs1057516060 uncertain-significance, Optic atrophy 7,373(+) A/G coding_sequence_variant, synonymous_variant
rs1057516061 uncertain-significance, Myopathy 7,496(+) T/C
rs111033319 uncertain-significance, pathogenic, not specified, Mitochondrial cytochrome c oxidase deficiency, Deafness, sensorineural, with neurologic features, Deafness, nonsyndromic sensorineural, mitochondrial 7,466(+) CCCCCC/CCCCC/CCCCCCC
rs118203884 pathogenic, Mitochondrial myopathy 4,409(+) T/C

Additional Variant Information for MT-CO1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-CO1 Gene

Disorders for MT-CO1 Gene

MalaCards: The human disease database

(51) MalaCards diseases for MT-CO1 Gene - From: HGMD, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acquired idiopathic sideroblastic anemia
  • refractory anemia with ringed sideroblasts
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
myoglobinuria, recurrent
  • myoglobinuria recurrent
mitochondrial non-syndromic sensorineural deafness
  • isolated mitochondrial neurosensory deafness
genetic recurrent myoglobinuria
- elite association - COSMIC cancer census association via MalaCards


  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:16407113, ECO:0000269 PubMed:19218458}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Deafness, sensorineural, mitochondrial (DFNM) [MIM:500008]: A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. {ECO:0000269 PubMed:10577941}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269 PubMed:1322638}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269 PubMed:12140182, ECO:0000269 PubMed:16284789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=MT-CO1 may play a role in the pathogenesis of acquired idiopathic sideroblastic anemia, a disease characterized by inadequate formation of heme and excessive accumulation of iron in mitochondria. Mitochondrial iron overload may be attributable to mutations of mitochondrial DNA because these can cause respiratory chain dysfunction, thereby impairing reduction of ferric iron to ferrous iron. The reduced form of iron is essential to the last step of mitochondrial heme biosynthesis. {ECO:0000269 PubMed:9389715, ECO:0000269 PubMed:9851701}.
  • Recurrent myoglobinuria mitochondrial (RM-MT) [MIM:550500]: Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. {ECO:0000269 PubMed:10980727}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Additional Disease Information for MT-CO1

Genetic Association Database
genes like me logo Genes that share disorders with MT-CO1: view

No data available for Genatlas for MT-CO1 Gene

Publications for MT-CO1 Gene

  1. Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes. (PMID: 11849212) Reddy PL … Raza A (British journal of haematology 2002) 3 22 44 58
  2. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S … Young IG (Nature 1981) 2 3 4 58
  3. MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly. (PMID: 26321642) Dennerlein S … Rehling P (Cell reports 2015) 3 4 58
  4. Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men. (PMID: 19267350) Ray AM … Petros JA (The Prostate 2009) 3 22 58
  5. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PMID: 17357124) Samanich J … Morrow BE (American journal of medical genetics. Part A 2007) 3 44 58

Products for MT-CO1 Gene

Sources for MT-CO1 Gene

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