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Aliases for MT-CO1 Gene

Aliases for MT-CO1 Gene

  • Mitochondrially Encoded Cytochrome C Oxidase I 2
  • EC 1.9.3.1 4 63
  • 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 myoglobinuria recurrent and mt-co1-related hearing loss and deafness. Among its related pathways are Metabolism and Metabolism.

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

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

Genomics for MT-CO1 Gene

Genomic Location for MT-CO1 Gene

Start:
5,904 bp from pter
End:
7,445 bp from pter
Size:
1,542 bases
Orientation:
Plus strand

Genomic View for MT-CO1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

RefSeq DNA sequence for MT-CO1 Gene

No data available for Regulatory Elements for MT-CO1 Gene

Proteins for MT-CO1 Gene

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

    Protein Symbol:
    P00395-COX1_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 1
    Protein Accession:
    P00395
    Secondary Accessions:
    • Q34770

    Protein attributes for MT-CO1 Gene

    Size:
    513 amino acids
    Molecular mass:
    57041 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MT-CO1 Gene

Proteomics data for MT-CO1 Gene at MOPED

Post-translational modifications for MT-CO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-CO1 Gene

ENSEMBL proteins:
Reactome Protein details:

Domains for MT-CO1 Gene

Gene Families for MT-CO1 Gene

HGNC:
  • comIV :Mitochondrial respiratory chain complex / Complex IV

Protein Domains for MT-CO1 Gene

Suggested Antigen Peptide Sequences for MT-CO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00395

UniProtKB/Swiss-Prot:

COX1_HUMAN :
  • P00395
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 cytochrome-c oxidase activity --
GO:0005506 iron ion binding --
GO:0005515 protein binding --
GO:0009055 electron carrier activity --
GO:0020037 heme binding --
genes like me logo Genes that share ontologies with MT-CO1: view
genes like me logo Genes that share phenotypes with MT-CO1: view

No data available for Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for MT-CO1 Gene COMPARTMENTS Subcellular localization image for MT-CO1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2
chloroplast 1
lysosome 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane --
GO:0005751 mitochondrial respiratory chain complex IV --
GO:0016021 integral component of membrane --
GO:0045277 respiratory chain complex IV --
genes like me logo Genes that share ontologies with MT-CO1: view

Pathways 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 --
GO:0009060 aerobic respiration --
GO:0022904 respiratory electron transport chain --
GO:0044237 cellular metabolic process --
GO:0044281 small molecule metabolic process --
genes like me logo Genes that share ontologies with MT-CO1: view

Compounds for MT-CO1 Gene

(1) ApexBio Compounds for MT-CO1 Gene

Compound Action Cas Number
Nepafenac Anti-inflammatory drug (NSAID) [78281-72-8]

(5) HMDB Compounds for MT-CO1 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6
Oxygen
  • Oxygen
7782-44-7
Water
  • Dihydrogen oxide
7732-18-5

(2) Drugbank Compounds for MT-CO1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cholic Acid
81-25-4 target
N-Formylmethionine
target

(13) Novoseek inferred chemical compound relationships for MT-CO1 Gene

Compound -log(P) Hits PubMed IDs
solium 66 6
nadh 62.7 25
rrna 59.3 22
ribonucleic acid 17.8 3
atp 14.9 6
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
MT-CO1
ECgene alternative splicing isoforms for
MT-CO1

Expression for MT-CO1 Gene

mRNA expression in normal human tissues 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 (4.2).

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, and MOPED for MT-CO1 Gene

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

Expression partners for MT-CO1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia COX1 35
  • 79.36 (n)
  • 88.87 (a)
COX1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX1 35
  • 77.3 (n)
  • 90.8 (a)
COX1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia COX1 35
  • 77.93 (n)
  • 89.65 (a)
mt-Co1 16
mt-Co1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COX1 35
  • 91.29 (n)
  • 97.66 (a)
MT-CO1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia COX1 35
  • 78.39 (n)
  • 90.23 (a)
oppossum
(Monodelphis domestica)
Mammalia COI 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MT-CO1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX1 35
  • 77.19 (n)
  • 83.53 (a)
MT-CO1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia COX1 35
  • 75.72 (n)
  • 86.13 (a)
Str.7294 35
zebrafish
(Danio rerio)
Actinopterygii COX1 35
  • 74.35 (n)
  • 83.98 (a)
Dr.2007 35
mt-co1 36
  • 85 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta COX1 35
  • 66.47 (n)
  • 74.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta COX1 35
  • 66.6 (n)
  • 75.05 (a)
mt:CoI 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea COX1 35
  • 57.87 (n)
  • 58.73 (a)
MTCE.26 36
  • 59 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AMI002W 35
  • 58.25 (n)
  • 58.38 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes COX1 35
  • 58.93 (n)
  • 58.73 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX1 35
  • 59.19 (n)
  • 58.53 (a)
COX1 36
  • 56 (a)
OneToOne
COX1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons cox1 35
  • 61.75 (n)
  • 67.53 (a)
rice
(Oryza sativa)
Liliopsida Os.23516 35
wheat
(Triticum aestivum)
Liliopsida Ta.20641 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4242 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox1 35
  • 57.52 (n)
  • 54.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 69 (a)
OneToOne
Species with no ortholog for MT-CO1:
  • 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

ENSEMBL:
Gene Tree for MT-CO1 (if available)
TreeFam:
Gene Tree for MT-CO1 (if available)

Paralogs for MT-CO1 Gene

Selected 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 Sequence Context AA Info Type MAF
VAR_008385 -
VAR_008386 -
VAR_008566 -
VAR_008567 -
VAR_008568 -

Relevant External Links for MT-CO1 Gene

HapMap Linkage Disequilibrium report
MT-CO1
Human Gene Mutation Database (HGMD)
MT-CO1

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

Disorders for MT-CO1 Gene

UniProtKB/Swiss-Prot

COX1_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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}. Note=The gene represented in this entry may be involved in disease pathogenesis.

(3) University of Copenhagen DISEASES for MT-CO1 Gene

(15) Novoseek inferred disease relationships for MT-CO1 Gene

Disease -log(P) Hits PubMed IDs
leigh syndrome 54 1
hydatid cyst 49.8 3
lebers hereditary optic neuropathy 35.8 1
mitochondrial myopathies 18.1 1
virilization 15 1

Relevant External Links for MT-CO1

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

No data available for OMIM and 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 P.L. … Raza A. (Br. J. Haematol. 2002) 3 23 48
  2. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S. … Young I.G. (Nature 1981) 2 3 4
  3. Correlation of the clinical severity of Alzheimer's disease with an aberration in mitochondrial DNA (mtDNA). (PMID: 11345519) Brown A.M. … Blass J.P. (J. Mol. Neurosci. 2001) 3 48
  4. Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. (PMID: 12140182) Varlamov D.A. … Kunz W.S. (Hum. Mol. Genet. 2002) 3 4
  5. Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk. (PMID: 15308583) Goodman J.E. … Harris C.C. (Carcinogenesis 2004) 3 48

Products for MT-CO1 Gene

Sources for MT-CO1 Gene

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