MT-CO1 Gene (Protein Coding)

Mitochondrially Encoded Cytochrome C Oxidase I

GCMTP005906
GIFtS:
32
See more...

Aliases for MT-CO1 Gene

Aliases for MT-CO1 Gene

  • Mitochondrially Encoded Cytochrome C Oxidase I 2 5
  • COI 2 3 4
  • MTCO1 3 4
  • COX1 2 3
  • Cytochrome C Oxidase Polypeptide I 4
  • Cytochrome C Oxidase Subunit I 3
  • Cytochrome C Oxidase Subunit 1 4
  • Cytochrome C Oxidase I 2
  • EC 1.9.3.1 51
  • EC 7.1.1.9 4
  • MT-CO1 5
  • 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 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Effects of Nitric Oxide. Gene Ontology (GO) annotations related to this gene include iron ion binding and electron transfer activity.

UniProtKB/Swiss-Prot Summary for MT-CO1 Gene

  • Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

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 , Rfam classification and piRNA Summary for MT-CO1 Gene

Genomics for MT-CO1 Gene

Genomic Locations for MT-CO1 Gene

Genomic Locations for MT-CO1 Gene
chrMT:5,904-7,445
(GRCh38/hg38)
Size:
1,542 bases
Orientation:
Plus strand
chrMT:5,904-7,445
(GRCh37/hg19)
Size:
1,542 bases
Orientation:
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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Quaternary structure:
    • Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). 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 (PubMed:26321642). Interacts with TMEM177 in a COX20-dependent manner (PubMed:29154948).

    Three dimensional structures from OCA and Proteopedia for MT-CO1 Gene

neXtProt entry for MT-CO1 Gene

Protein Expression for MT-CO1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MT-CO1 Gene

P00395:
  • AKIHFTIMF
  • TVGGLTG
  • FIGVNLTF
  • STNHKDIG
  • GFIFLFT
  • NFITTII
  • IRAELGQPG
  • FLFTVGG
  • LANSSLDI
  • LLLLSLPVLAA
  • GGFGNWL
  • HPEVYILILPGFG
  • MDVDTRAYFTSATMIIAIPTG
  • NTTFFDP
  • SILGAIN
  • HDTYYVV
  • TDRNLNT
  • WEAFASKR
  • GCPPPYHTFE
  • GMPRRYSD
  • FFDPAGG
  • GSFISLTAV
  • MPRRYSDYPDAY
  • LGAINFITT
  • IVTAHAF
  • GVSSILG
  • TIINMKP
  • ITAVLLLLSLPVLA
  • HFHYVLS
  • QYQTPLF
  • GGLTGIVL
  • IFSLHLAG
  • GKKEPFG
  • PDMAFPRMNN
  • PLFVWSV
  • LGFIVWAHHM
  • VTAHAFVMIFFMVMP
  • PQHFLGL
  • VEAGAGTGWTVYPPLAGN
  • WSVLITA
  • INMKPPA
  • GVNLTFFP
  • HWFPLFSGY
  • MGAVFAIM
  • MIFFMVMPI
  • VWAHHMFTVG
  • LSLLIRAEL

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

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

Protein Domains for MT-CO1 Gene

InterPro:
Blocks:
  • Cytochrome c oxidase, subunit I
ProtoNet:

Suggested Antigen Peptide Sequences for MT-CO1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase subunit 1 (A1XP63_HUMAN)
  • Cytochrome c oxidase subunit 1 (A5YMT3_HUMAN)
  • Cytochrome c oxidase subunit 1 (B1W8A6_HUMAN)
  • Cytochrome c oxidase subunit 1 (B5LMI2_HUMAN)
  • Cytochrome c oxidase polypeptide I (COX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00395

UniProtKB/Swiss-Prot:

COX1_HUMAN :
  • Belongs to the heme-copper respiratory oxidase family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MT-CO1 Gene

UniProtKB/Swiss-Prot Function:
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4 [Fe(II)cytochrome c] + 4 H(+) + O2 = 4 [Fe(III)cytochrome c] + 2 H2O; Xref=Rhea:RHEA:11436, Rhea:RHEA-COMP:10350, Rhea:RHEA-COMP:14399, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034; EC=7.1.1.9; Evidence={ECO:0000250|UniProtKB:P00401};.

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:0005515 protein binding IPI 12762840
GO:0016491 oxidoreductase activity IEA --
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding 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

Animal Model Products

CRISPR Products

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

COMPARTMENTS
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 4
nucleus 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

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 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 IBA,TAS --
GO:0006979 response to oxidative stress IEA --
GO:0007568 aging IEA --
GO:0009060 aerobic respiration IBA 21873635
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

Products:

  1. Drug

(12) 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 Agonist, Full agonist, Target 0
Copper Approved, Investigational Pharma Enzyme, cofactor 249
Cupric sulfate Approved Pharma Enzyme, inducer 0
Iron Approved, Experimental Pharma 1560

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with MT-CO1: view

Transcripts for MT-CO1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MT-CO1 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for MT-CO1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MT-CO1 Gene
mRNA expression by GTEx 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 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(4.6)
  • Heart(4.6)
  • Skin(4.5)
  • Kidney(4.4)
  • Liver(4.3)
  • Nervous system(4.3)
  • Intestine(4.3)
  • Adrenal gland(4.2)
  • Stomach(4.2)
  • Lung(4.1)
  • Pancreas(3.9)
  • Gall bladder(3.9)
  • Lymph node(3.9)
  • Thyroid gland(3.9)
  • Spleen(3.9)
  • Bone marrow(3.9)
  • Blood(3)
  • Bone(2.4)
  • Eye(2.4)
genes like me logo Genes that share expression patterns with MT-CO1: view

Primer Products

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
Chimpanzee
(Pan troglodytes)
 Mammalia MT-CO1 31
  • 99 (a)
 OneToOne
COX1 30
  • 91.29 (n)
Mouse
(Mus musculus)
 Mammalia mt-Co1 17 31
  • 91 (a)
 OneToOne
COX1 30
  • 77.93 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia MT-CO1 31
  • 90 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia COI 31
  • 89 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia COX1 30 31
  • 79.36 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia COX1 30
  • 78.39 (n)
Dog
(Canis familiaris)
 Mammalia COX1 30 31
  • 77.3 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves MT-CO1 31
  • 84 (a)
 OneToOne
COX1 30
  • 77.19 (n)
Lizard
(Anolis carolinensis)
 Reptilia COX1 31
  • 87 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia COX1 30
  • 75.72 (n)
Str.7294 30
Zebrafish
(Danio rerio)
 Actinopterygii mt-co1 31
  • 85 (a)
 OneToOne
COX1 30
  • 74.35 (n)
Dr.2007 30
Fruit Fly
(Drosophila melanogaster)
 Insecta mt:CoI 31
  • 75 (a)
 OneToOne
COX1 30
  • 66.6 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta COX1 30
  • 66.47 (n)
Worm
(Caenorhabditis elegans)
 Secernentea MTCE.26 31
  • 59 (a)
 OneToOne
COX1 30
  • 57.87 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes COX1 30 31 33
  • 59.19 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes COX1 30
  • 58.93 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AMI002W 30
  • 58.25 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons cox1 30
  • 61.75 (n)
Rice
(Oryza sativa)
 Liliopsida Os.23516 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.20641 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 69 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes cox1 30
  • 57.52 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4242 30
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

ENSEMBL:
Gene Tree for MT-CO1 (if available)
TreeFam:
Gene Tree for MT-CO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MT-CO1: view image

Paralogs for MT-CO1 Gene

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

  • COX1_HUMAN

Pseudogenes.org Pseudogenes for MT-CO1 Gene

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-CO1 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
692598 Uncertain Significance: Leigh syndrome 5,907(+) T/C MISSENSE_VARIANT
692599 Benign: Leigh syndrome 5,910(+) G/A MISSENSE_VARIANT
692600 Benign: Leigh syndrome 5,911(+) C/T MISSENSE_VARIANT
692601 Benign: Leigh syndrome 5,913(+) G/A MISSENSE_VARIANT
692602 Uncertain Significance: Leigh syndrome 5,961(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MT-CO1 Gene

Additional Variant Information for MT-CO1 Gene

Human Gene Mutation Database (HGMD)
MT-CO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-CO1

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

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

Disorder Aliases PubMed IDs
myoglobinuria, recurrent
  • myoglobinuria recurrent
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
  • autosomal recessive pyridoxine-refractory sideroblastic anaemia 2
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
deafness, nonsyndromic sensorineural, mitochondrial
  • mitochondrial nonsyndromic sensorineural deafness
genetic recurrent myoglobinuria
- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:9389715, ECO:0000269 PubMed:9851701}.
  • 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, ECO:0000269 PubMed:19218458}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Additional Disease Information for MT-CO1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  2. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S … Young IG (Nature 1981) 2 3 4
  3. The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. (PMID: 29154948) Lorenzi I … Rehling P (Biochimica et biophysica acta. Molecular cell research 2018) 3 4
  4. 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
  5. 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 23

ExternalLinks

View latest publications for MT-CO1 gene in Mastermind

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