The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme con... See more...

Aliases for COX8A Gene

Aliases for COX8A Gene

  • Cytochrome C Oxidase Subunit 8A 2 3 5
  • COX8L 2 3 4
  • Cytochrome C Oxidase Polypeptide VIII-Liver/Heart 3 4
  • Cytochrome C Oxidase Subunit VIIIA (Ubiquitous) 2 3
  • Cytochrome C Oxidase Subunit 8A, Mitochondrial 3 4
  • Cytochrome C Oxidase Subunit VIII 2 3
  • Cytochrome C Oxidase Subunit 8-2 3 4
  • COX8-2 2 3
  • VIII-L 2 3
  • COX8 3 4
  • VIII 2 3
  • COX 2 3
  • Cytochrome C Oxidase Subunit 8A (Ubiquitous) 3
  • MC4DN15 3
  • COX8A 5

External Ids for COX8A Gene

Previous HGNC Symbols for COX8A Gene

  • COX8

Previous GeneCards Identifiers for COX8A Gene

  • GC11P063518
  • GC11P063498
  • GC11P063742
  • GC11P060070
  • GC11P063977

Summaries for COX8A Gene

Entrez Gene Summary for COX8A Gene

  • The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX8A Gene

COX8A (Cytochrome C Oxidase Subunit 8A) is a Protein Coding gene. Diseases associated with COX8A include Mitochondrial Complex Iv Deficiency, Nuclear Type 15 and Mitochondrial Complex Iv Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX8C.

UniProtKB/Swiss-Prot Summary for COX8A 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX8A Gene

Genomics for COX8A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COX8A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX8A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX8A

Top Transcription factor binding sites by QIAGEN in the COX8A gene promoter:
  • AREB6
  • Oct-B1
  • oct-B2
  • Olf-1
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • Zic3

Genomic Locations for COX8A Gene

Latest Assembly
chr11:63,974,620-63,976,543
(GRCh38/hg38)
Size:
1,924 bases
Orientation:
Plus strand

Previous Assembly
chr11:63,742,092-63,744,015
(GRCh37/hg19 by Entrez Gene)
Size:
1,924 bases
Orientation:
Plus strand

chr11:63,742,079-63,744,015
(GRCh37/hg19 by Ensembl)
Size:
1,937 bases
Orientation:
Plus strand

Genomic View for COX8A Gene

Genes around COX8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX8A Gene

Proteins for COX8A Gene

  • Protein details for COX8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10176-COX8A_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 8A, mitochondrial
    Protein Accession:
    P10176
    Secondary Accessions:
    • P15955

    Protein attributes for COX8A Gene

    Size:
    69 amino acids
    Molecular mass:
    7579 Da
    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).

    Three dimensional structures from OCA and Proteopedia for COX8A Gene

neXtProt entry for COX8A Gene

Post-translational modifications for COX8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX8A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX8A Gene

Domains & Families for COX8A Gene

Gene Families for COX8A Gene

Protein Domains for COX8A Gene

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

Suggested Antigen Peptide Sequences for COX8A Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase subunit 8-2 (COX8A_HUMAN)
  • cDNA, FLJ92201, Homo sapiens cytochrome c oxidase subunit VIII (COX8), mRNA (Q53XN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10176

UniProtKB/Swiss-Prot:

COX8A_HUMAN :
  • Belongs to the cytochrome c oxidase VIII family.
Family:
  • Belongs to the cytochrome c oxidase VIII family.
genes like me logo Genes that share domains with COX8A: view

Function for COX8A Gene

Molecular function for COX8A 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.

Phenotypes From GWAS Catalog for COX8A Gene

Gene Ontology (GO) - Molecular Function for COX8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity TAS,IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COX8A: view
genes like me logo Genes that share phenotypes with COX8A: view

Human Phenotype Ontology for COX8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX8A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COX8A Gene

Localization for COX8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX8A Gene

Mitochondrion inner membrane. Single-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 COX8A gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for COX8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045277 respiratory chain complex IV IBA 21873635
genes like me logo Genes that share ontologies with COX8A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX8A Gene

Pathways & Interactions for COX8A Gene

genes like me logo Genes that share pathways with COX8A: view

UniProtKB/Swiss-Prot P10176-COX8A_HUMAN

  • Pathway: Energy metabolism; oxidative phosphorylation.

Gene Ontology (GO) - Biological Process for COX8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 2543673
GO:0006119 oxidative phosphorylation IEA --
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS --
GO:0022900 electron transport chain IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX8A: view

No data available for SIGNOR curated interactions for COX8A Gene

Drugs & Compounds for COX8A Gene

(4) Drugs for COX8A Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Target 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
N-Formylmethionine Experimental Pharma Target 0
genes like me logo Genes that share compounds with COX8A: view

Transcripts for COX8A Gene

mRNA/cDNA for COX8A Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX8A

Alternative Splicing Database (ASD) splice patterns (SP) for COX8A Gene

No ASD Table

Relevant External Links for COX8A Gene

GeneLoc Exon Structure for
COX8A

Expression for COX8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COX8A Gene

This gene is overexpressed in Nasal epithelium (39.8) and Hair follicle (20.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COX8A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX8A

SOURCE GeneReport for Unigene cluster for COX8A Gene:

Hs.743989

Evidence on tissue expression from TISSUES for COX8A Gene

  • Heart(4.7)
  • Pancreas(4.6)
  • Liver(4.6)
  • Nervous system(4.2)
  • Muscle(3.7)
  • Lung(3.4)
  • Eye(3.2)
  • Kidney(3.1)
  • Skin(2.8)
  • Blood(2.8)
  • Stomach(2.6)
  • Intestine(2.6)
  • Thyroid gland(2.6)
  • Bone marrow(2.5)
  • Spleen(2.5)
  • Lymph node(2.4)
  • Adrenal gland(2.4)
genes like me logo Genes that share expression patterns with COX8A: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX8A Gene

Orthologs for COX8A Gene

This gene was present in the common ancestor of mammals.

Orthologs for COX8A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COX8A 30 31
  • 98.55 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia LOC783202 30
  • 80.68 (n)
COX8A 31
  • 72 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia COX8A 30 31
  • 80.19 (n)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Cox8a 30 17 31
  • 78.74 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Cox8a 30
  • 76.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 44 (a)
OneToMany
Species where no ortholog for COX8A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for COX8A Gene

ENSEMBL:
Gene Tree for COX8A (if available)
TreeFam:
Gene Tree for COX8A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX8A: view image

Paralogs for COX8A Gene

Paralogs for COX8A Gene

(2) SIMAP similar genes for COX8A Gene using alignment to 1 proteins:

  • COX8A_HUMAN
genes like me logo Genes that share paralogs with COX8A: view

Variants for COX8A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX8A Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11231664 Benign: not provided 63,975,081(+) T/G
NM_004074.3(COX8A):c.114+287T>G
INTRON
rs11605797 Benign: not provided 63,975,948(+) A/G
NM_004074.3(COX8A):c.115-277A>G
INTRON
rs144339685 Benign: not provided 63,974,747(+) C/T
NM_004074.3(COX8A):c.67C>T (p.Arg23Cys)
MISSENSE
rs61759492 Benign: not provided 63,974,791(+) C/A
NM_004074.3(COX8A):c.111C>A (p.Ile37=)
SYNONYMOUS
rs7130187 Benign: not provided 63,974,702(+) C/T
NM_004074.3(COX8A):c.22C>T (p.Leu8=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COX8A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for COX8A Gene

Variant ID Type Subtype PubMed ID
esv29993 CNV loss 17803354
nsv1042075 CNV loss 25217958
nsv555181 CNV loss 21841781
nsv951010 CNV deletion 24416366

Variation tolerance for COX8A Gene

Residual Variation Intolerance Score: 60.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX8A Gene

Human Gene Mutation Database (HGMD)
COX8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX8A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX8A Gene

Disorders for COX8A Gene

MalaCards: The human disease database

(5) MalaCards diseases for COX8A Gene - From: OMI, CVR, ORP, and COP

Additional Disease Information for COX8A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with COX8A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX8A Gene

Publications for COX8A Gene

  1. A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. (PMID: 2543673) Rizzuto R … Schon EA (The Journal of biological chemistry 1989) 2 3 4
  2. Human heart cytochrome c oxidase subunit VIII. Purification and determination of the complete amino acid sequence. (PMID: 2847943) Van Kuilenburg AB … Van Beeumen JJ (FEBS letters 1988) 2 3 4
  3. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. (PMID: 26685157) Hallmann K … Kunz WS (Brain : a journal of neurology 2016) 3 74
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for COX8A Gene

Sources for COX8A Gene