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

Gene ID: 4514, updated on 3-Dec-2023

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 enable electron transfer activity and oxidoreduction-driven active transmembrane transporter activity. Involved in respiratory chain complex IV assembly. Part of respiratory chain complex IV. Implicated in MELAS syndrome. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

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Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (9207..9990)
105.20220307 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. 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
  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. Accurately mapping the location of the binding site for the interaction between hepatitis B virus X protein and cytochrome c oxidase III. Li D, et al. Int J Mol Med, 2015 Feb. PMID 25483779, Free PMC Article
  4. 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
  5. Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men. Baklouti-Gargouri S, et al. Mol Biol Rep, 2013 Aug. PMID 23645088

See all (43) 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)

Genotypes

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 
part_of mitochondrial respiratory chain complex IV IPI
Inferred from Physical Interaction
more info
 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, H9NYK3, 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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