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    MT-CO3 mitochondrially encoded cytochrome c oxidase III [ Homo sapiens (human) ]

    Gene ID: 4514, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MT-CO3provided by HGNC
    Official Full Name
    mitochondrially encoded cytochrome c oxidase IIIprovided by HGNC
    Primary source
    HGNC:HGNC:7422
    See related
    MIM:516050; AllianceGenome:HGNC:7422
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COIII; MTCO3; COX3
    Summary
    Predicted to contribute to cytochrome-c oxidase activity. Involved in respiratory chain complex IV assembly. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. Implicated in MELAS syndrome. [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See MT-CO3 in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (9207..9990)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (9207..9990)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Lys Neighboring gene ATP synthase F0 subunit 8 Neighboring gene ATP synthase F0 subunit 6 Neighboring gene tRNA-Gly Neighboring gene NADH dehydrogenase subunit 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Keightley JA, et al. Nat Genet, 1996 Apr. PMID 8630495
    2. Sperm mitochondrial DNA 15bp deletion of cytochrome c oxidase subunit III is significantly associated with human male infertility in Pakistan. Mughal IA, et al. J Pak Med Assoc, 2016 Jan. PMID 26712170
    3. Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men. Baklouti-Gargouri S, et al. J Assist Reprod Genet, 2014 May. PMID 24550096, Free PMC Article
    4. The T9861C Mutation in the mtDNA-Encoded Cytochrome C Oxidase Subunit III Gene Occurs in High Frequency but with Unequal Distribution in the Alzheimer's Disease Brain. Castora FJ, et al. J Alzheimers Dis, 2019. PMID 31561357
    5. Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men. Baklouti-Gargouri S, et al. Mol Biol Rep, 2013 Aug. PMID 23645088

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8.
      Title: A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8.
    2. Whole mitochondrial genome analysis in Chinese patients with keratoconus.
      Title: Whole mitochondrial genome analysis in Chinese patients with keratoconus.
    3. HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
      Title: HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
    4. The T9861C Mutation in the mtDNA-Encoded Cytochrome C Oxidase Subunit III Gene Occurs in High Frequency but with Unequal Distribution in the Alzheimer's Disease Brain.
      Title: The T9861C Mutation in the mtDNA-Encoded Cytochrome C Oxidase Subunit III Gene Occurs in High Frequency but with Unequal Distribution in the Alzheimer's Disease Brain.
    5. There was a significant association of cytochrome c oxidase III 15bp deletion with human male infertility.
      Title: Sperm mitochondrial DNA 15bp deletion of cytochrome c oxidase subunit III is significantly associated with human male infertility in Pakistan.
    6. this is the first study showing to demonstrate that aa72-117 in HBx is the key region for binding with COXIII.
      Title: Accurately mapping the location of the binding site for the interaction between hepatitis B virus X protein and cytochrome c oxidase III.
    7. A novel COIII gene m.9588G>A mutation was found in the mtDNA sperm's in all asthenozoospermic patients and was absent in the normozoospermic and in fertile men.
      Title: Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.
    8. novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted
      Title: 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 severe nephropathy.
    9. Lack of Cox3 limits the biosynthesis of COX but does not alter the structure of the enzyme.
      Title: Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.
    10. A novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene found in 3 asthenospermic patients from Tunisia.
      Title: Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to cytochrome-c oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, cytochrome c to oxygen IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, cytochrome c to oxygen NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in respiratory chain complex IV assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex IV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytochrome c oxidase subunit III
    YP_003024032.1
    • TAA stop codon is completed by the addition of 3' A residues to the mRNA

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NC_012920.1 Reference assembly

      Range
      9207..9990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. YP_003024032.1 cytochrome c oxidase subunit III (mitochondrion) [Homo sapiens]

      See identical proteins and their annotated locations for YP_003024032.1

      Status: PROVISIONAL

      UniProtKB/Swiss-Prot
      P00414, Q14Y83
      UniProtKB/TrEMBL
      A0A1X7RBF0, A0A343RWD0, A0A5J6EA75, B0EWB5, B3DE35, B9ECT2, F1B6Q7, G4W4F2, H6WIB9, H9NRT7, H9P818, H9QNT9, H9SGP8, Q15HG3, Q2HKI3, Q4GFE9, Q6VH99, Q6VIM0, Q7GIM7
      Related
      ENSP00000354982.2
      Conserved Domains (1) summary
      MTH00099
      Location:1 → 261
      COX3; cytochrome c oxidase subunit III; Validated
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00414.2 P00414

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