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Aliases for MT-CO3 Gene

Aliases for MT-CO3 Gene

  • Mitochondrially Encoded Cytochrome C Oxidase III 2 5
  • Cytochrome C Oxidase III 2 3
  • MTCO3 3 4
  • COIII 3 4
  • Cytochrome C Oxidase Polypeptide III 4
  • Cytochrome C Oxidase Subunit III 3
  • EC 1.9.3.1 63
  • COXIII 4
  • COX3 3

External Ids for MT-CO3 Gene

Previous HGNC Symbols for MT-CO3 Gene

  • MTCO3

Previous GeneCards Identifiers for MT-CO3 Gene

  • GC00U921585

Summaries for MT-CO3 Gene

GeneCards Summary for MT-CO3 Gene

MT-CO3 (Mitochondrially Encoded Cytochrome C Oxidase III) is a Protein Coding gene. Diseases associated with MT-CO3 include leber hereditary optic neuropathy and genetic recurrent myoglobinuria. Among its related pathways are Alzheimer's disease and Cardiac muscle contraction. GO annotations related to this gene include cytochrome-c oxidase activity and heme-copper terminal oxidase activity.

UniProtKB/Swiss-Prot for MT-CO3 Gene

  • Subunits I, II and III form the functional core of the enzyme complex.

Gene Wiki entry for MT-CO3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-CO3 Gene

Genomics for MT-CO3 Gene

Genomic Location for MT-CO3 Gene

Chromosome:
MT
Start:
9,207 bp from pter
End:
9,990 bp from pter
Size:
784 bases
Orientation:
Plus strand

Genomic View for MT-CO3 Gene

Genes around MT-CO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-CO3 Gene

No data available for Regulatory Elements for MT-CO3 Gene

Proteins for MT-CO3 Gene

  • Protein details for MT-CO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00414-COX3_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 3
    Protein Accession:
    P00414
    Secondary Accessions:
    • Q14Y83

    Protein attributes for MT-CO3 Gene

    Size:
    261 amino acids
    Molecular mass:
    29951 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MT-CO3 Gene

Proteomics data for MT-CO3 Gene at MOPED

Selected DME Specific Peptides for MT-CO3 Gene

Post-translational modifications for MT-CO3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-CO3 Gene

ENSEMBL proteins:

Domains & Families for MT-CO3 Gene

Graphical View of Domain Structure for InterPro Entry

P00414

UniProtKB/Swiss-Prot:

COX3_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 3 family.
Family:
  • Belongs to the cytochrome c oxidase subunit 3 family.
genes like me logo Genes that share domains with MT-CO3: view

Function for MT-CO3 Gene

Molecular function for MT-CO3 Gene

UniProtKB/Swiss-Prot Function:
Subunits I, II and III form the functional core of the enzyme complex.

Enzyme Numbers (IUBMB) for MT-CO3 Gene

Human Phenotype Ontology for MT-CO3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-CO3 Gene

Localization for MT-CO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-CO3 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-CO3 Gene COMPARTMENTS Subcellular localization image for MT-CO3 gene
Compartment Confidence
mitochondrion 5
nucleus 3
plasma membrane 3
chloroplast 2
extracellular 2
lysosome 2
vacuole 2
cytosol 1

Gene Ontology (GO) - Cellular Components for MT-CO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0045277 respiratory chain complex IV IDA --
genes like me logo Genes that share ontologies with MT-CO3: view

Pathways & Interactions for MT-CO3 Gene

genes like me logo Genes that share pathways with MT-CO3: view

Gene Ontology (GO) - Biological Process for MT-CO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with MT-CO3: view

No data available for SIGNOR curated interactions for MT-CO3 Gene

Drugs & Compounds for MT-CO3 Gene

(5) Drugs for MT-CO3 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

(1) Additional Compounds for MT-CO3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MT-CO3: view

Transcripts for MT-CO3 Gene

mRNA/cDNA for MT-CO3 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for MT-CO3 Gene

No ASD Table

Relevant External Links for MT-CO3 Gene

GeneLoc Exon Structure for
MT-CO3
ECgene alternative splicing isoforms for
MT-CO3

Expression for MT-CO3 Gene

mRNA expression in normal human tissues for MT-CO3 Gene

mRNA expression in normal human tissues for MT-CO3 Gene

Protein differential expression in normal tissues from HIPED for MT-CO3 Gene

This gene is overexpressed in Heart (14.7) and Nasal epithelium (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MT-CO3 Gene



genes like me logo Genes that share expression patterns with MT-CO3: view

Protein tissue co-expression partners for MT-CO3 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MT-CO3 Gene

Orthologs for MT-CO3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MT-CO3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COX3 35
  • 79.23 (n)
  • 85.77 (a)
COX3 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX3 35
  • 74.71 (n)
  • 83.14 (a)
COX3 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia COX3 35
  • 76.25 (n)
  • 85.82 (a)
mt-Co3 16
mt-Co3 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia COX3 35
  • 78.29 (n)
  • 86.21 (a)
oppossum
(Monodelphis domestica)
Mammalia COIII 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MT-CO3 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MT-CO3 36
  • 97 (a)
OneToOne
COX3 35
  • 90.42 (n)
  • 95.79 (a)
chicken
(Gallus gallus)
Aves COX3 35
  • 71.65 (n)
  • 73.18 (a)
MT-CO3 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX3 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia COX3 35
  • 72.29 (n)
  • 78.93 (a)
Str.8155 35
zebrafish
(Danio rerio)
Actinopterygii COX3 35
  • 71.52 (n)
  • 78.16 (a)
Dr.24911 35
mt-co3 36
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta COX3 35
  • 62.95 (n)
  • 65 (a)
fruit fly
(Drosophila melanogaster)
Insecta COX3 35
  • 64.61 (n)
  • 63.71 (a)
mt:CoIII 36
  • 65 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea MTCE.23 36
  • 43 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AMI003W 35
  • 50.06 (n)
  • 46.69 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes COX3 35
  • 51.29 (n)
  • 44.19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX3 36
  • 44 (a)
OneToOne
COX3 38
COX3 35
  • 49.61 (n)
  • 44.19 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons cox3 35
  • 59.04 (n)
  • 56.59 (a)
rice
(Oryza sativa)
Liliopsida Os.24741 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for MT-CO3:
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MT-CO3 Gene

ENSEMBL:
Gene Tree for MT-CO3 (if available)
TreeFam:
Gene Tree for MT-CO3 (if available)

Paralogs for MT-CO3 Gene

(4) SIMAP similar genes for MT-CO3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-CO3: view

No data available for Paralogs for MT-CO3 Gene

Variants for MT-CO3 Gene

Sequence variations from dbSNP and Humsavar for MT-CO3 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type
VAR_002167 Leber hereditary optic neuropathy (LHON)
VAR_002168 Leber hereditary optic neuropathy (LHON)
VAR_002169 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)
VAR_008573 -
VAR_008574 -

Relevant External Links for MT-CO3 Gene

HapMap Linkage Disequilibrium report
MT-CO3
Human Gene Mutation Database (HGMD)
MT-CO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-CO3 Gene

Disorders for MT-CO3 Gene

MalaCards: The human disease database

(15) MalaCards diseases for MT-CO3 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leber hereditary optic neuropathy
  • leber optic atrophy
genetic recurrent myoglobinuria
isolated cytochrome c oxidase deficiency
  • isolated cox deficiency
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
melas syndrome
  • mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COX3_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:8240356}. 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:8630495}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269 PubMed:18587274, ECO:0000269 PubMed:7496173}. Note=The disease may be 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:8630495}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for MT-CO3

Genetic Association Database (GAD)
MT-CO3
genes like me logo Genes that share disorders with MT-CO3: view

No data available for Genatlas for MT-CO3 Gene

Publications for MT-CO3 Gene

  1. A MELAS syndrome family harboring two mutations in mitochondrial genome. (PMID: 18587274) Choi B.O. … Chung K.W. (Exp. Mol. Med. 2008) 3 4 23 67
  2. Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. (PMID: 16288875) HorvA!th R. … LochmA1ller H. (Neuromuscul. Disord. 2005) 3 23
  3. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26
  4. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3
  5. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy. (PMID: 25701779) Tabebi M. … Fakhfakh F. (Biochem. Biophys. Res. Commun. 2015) 3

Products for MT-CO3 Gene

Sources for MT-CO3 Gene

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