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Aliases for COX6A1 Gene

Aliases for COX6A1 Gene

  • Cytochrome C Oxidase Subunit 6A1 2 3 5
  • Cytochrome C Oxidase Subunit VIa Polypeptide 1 2 3
  • Cytochrome C Oxidase Polypeptide VIa-Liver 3 4
  • Cytochrome C Oxidase Subunit VIA-Liver 3 4
  • COX VIa-L 3 4
  • COX6AL 3 4
  • Cytochrome C Oxidase Subunit 6A1, Mitochondrial 3
  • Cytochrome C Oxidase Subunit VIa Homolog 3
  • CMTRID 3
  • COX6A 3

External Ids for COX6A1 Gene

Previous HGNC Symbols for COX6A1 Gene

  • COX6A

Previous GeneCards Identifiers for COX6A1 Gene

  • GC12P119748
  • GC12P120658
  • GC12P119287
  • GC12P119338
  • GC12P120875
  • GC12P117884

Summaries for COX6A1 Gene

Entrez Gene Summary for COX6A1 Gene

  • Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX6A1 Gene

COX6A1 (Cytochrome C Oxidase Subunit 6A1) is a Protein Coding gene. Diseases associated with COX6A1 include Charcot-Marie-Tooth Disease, Recessive Intermediate D and Charcot-Marie-Tooth Neuropathy Recessive Intermediate D. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6A2.

UniProtKB/Swiss-Prot for COX6A1 Gene

  • This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Gene Wiki entry for COX6A1 Gene

Additional gene information for COX6A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX6A1 Gene

Genomics for COX6A1 Gene

Regulatory Elements for COX6A1 Gene

Enhancers for COX6A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H120549 1.2 Ensembl ENCODE 14.8 +112.4 112422 1.4 PKNOX1 FOXA2 ATF1 ARID4B YY1 SLC30A9 ATF7 SP5 REST PPARG COQ5 GATC COX6A1 RPL29P24 NRAV DYNLL1 SRSF9 RPL31P52 TRIAP1 ENSG00000111780
GH12H120388 1.3 Ensembl ENCODE dbSUPER 10.9 -48.7 -48688 1.6 HINFP SUZ12 ZFP64 MAX ZNF175 ZNF366 POLR2A ZNF600 ZBTB20 ZNF639 MSI1 ENSG00000256695 RPL12P33 ENSG00000201945 ENSG00000256963 SIRT4 PLA2G1B COX6A1 ENSG00000111780 RNU6-1088P
GH12H120473 1.2 Ensembl ENCODE 11.2 +36.6 36578 2 HDAC1 PKNOX1 NFIB SIN3A ZBTB7B ZNF121 ZNF366 FOS RCOR1 CREM COQ5 RPL31P52 TRIAP1 ENSG00000111780 NRAV COX6A1 PLA2G1B DYNLL1
GH12H120494 1.1 ENCODE 10.6 +58.5 58511 3.5 HDGF ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP3 ZHX2 COQ5 GATC RPL29P24 RNF10 DYNLL1 SRSF9 RPL31P52 TRIAP1 ENSG00000111780 COX6A1
GH12H121127 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.6 +691.2 691214 2.6 HDGF PKNOX1 FOXA2 MLX ARID4B YY1 ZNF121 ZNF766 ELK1 FOS LOC101928346 KDM2B RPL31P52 P2RX7 CAMKK2 COX6A1 P2RX4 PIRC57
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX6A1 on UCSC Golden Path with GeneCards custom track

Promoters for COX6A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058312 111 1600 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3

Genomic Locations for COX6A1 Gene

Genomic Locations for COX6A1 Gene
2,653 bases
Plus strand

Genomic View for COX6A1 Gene

Genes around COX6A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX6A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX6A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX6A1 Gene

Proteins for COX6A1 Gene

  • Protein details for COX6A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome c oxidase subunit 6A1, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R500
    • O43714
    • Q32Q37

    Protein attributes for COX6A1 Gene

    109 amino acids
    Molecular mass:
    12155 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAA33392.1; Type=Frameshift; Positions=17; Evidence={ECO:0000305};

neXtProt entry for COX6A1 Gene

Post-translational modifications for COX6A1 Gene

  • Ubiquitination at isoforms=82
  • Modification sites at PhosphoSitePlus

Other Protein References for COX6A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX6A1 Gene

Domains & Families for COX6A1 Gene

Gene Families for COX6A1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for COX6A1 Gene

Suggested Antigen Peptide Sequences for COX6A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome c oxidase subunit 6A family.
  • Belongs to the cytochrome c oxidase subunit 6A family.
genes like me logo Genes that share domains with COX6A1: view

Function for COX6A1 Gene

Molecular function for COX6A1 Gene

GENATLAS Biochemistry:
cytochrome c oxidase,subunit VIa,polypeptide 1,liver specific,97.5kDa,component of the complex IV,terminal enzyme complex for electron transfert,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane
UniProtKB/Swiss-Prot Function:
This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Phenotypes From GWAS Catalog for COX6A1 Gene

Gene Ontology (GO) - Molecular Function for COX6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 contributes_to cytochrome-c oxidase activity IBA --
GO:0030234 enzyme regulator activity IBA --
genes like me logo Genes that share ontologies with COX6A1: view
genes like me logo Genes that share phenotypes with COX6A1: view

Human Phenotype Ontology for COX6A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COX6A1 Gene

MGI Knock Outs for COX6A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COX6A1 Gene

Localization for COX6A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX6A1 Gene

Mitochondrion inner membrane.

Subcellular locations from

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 COX6A1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005751 mitochondrial respiratory chain complex IV IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX6A1: view

Pathways & Interactions for COX6A1 Gene

genes like me logo Genes that share pathways with COX6A1: view

Gene Ontology (GO) - Biological Process for COX6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 2549515
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS,IBA --
GO:0009060 aerobic respiration IBA --
GO:0050790 regulation of catalytic activity IEA --
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX6A1: view

No data available for SIGNOR curated interactions for COX6A1 Gene

Drugs & Compounds for COX6A1 Gene

(2) Drugs for COX6A1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with COX6A1: view

Transcripts for COX6A1 Gene

mRNA/cDNA for COX6A1 Gene

Unigene Clusters for COX6A1 Gene

Cytochrome c oxidase subunit VIa polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX6A1 Gene

No ASD Table

Relevant External Links for COX6A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COX6A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX6A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COX6A1 Gene

This gene is overexpressed in CD8 Tcells (9.8) and Fetal Liver (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COX6A1 Gene

Protein tissue co-expression partners for COX6A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COX6A1 Gene:


SOURCE GeneReport for Unigene cluster for COX6A1 Gene:


Evidence on tissue expression from TISSUES for COX6A1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Stomach(3)
  • Eye(2.9)
  • Heart(2.9)
  • Kidney(2.7)
  • Intestine(2.6)
  • Lung(2.6)
  • Spleen(2.5)
  • Muscle(2.4)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX6A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • head
  • foot
  • lower limb
  • shin
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with COX6A1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COX6A1 Gene

Orthologs for COX6A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COX6A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COX6A1 34
  • 100 (a)
LOC100616508 33
  • 99.69 (n)
(Canis familiaris)
Mammalia LOC477508 33
  • 87.04 (n)
-- 34
  • 70 (a)
-- 34
  • 69 (a)
-- 34
  • 38 (a)
(Rattus norvegicus)
Mammalia Cox6a1 33
  • 84.26 (n)
(Bos Taurus)
Mammalia COX6A1 34
  • 84 (a)
-- 34
  • 83 (a)
(Mus musculus)
Mammalia Cox6a1 33 16 34
  • 82.41 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 62 (a)
(Gallus gallus)
Aves COX6A1 33 34
  • 69.5 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cox6a1 33
  • 62.26 (n)
(Danio rerio)
Actinopterygii cox6a1 33 34
  • 60.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000851 33
  • 61.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta levy 33 34
  • 56.73 (n)
CG30093 34
  • 43 (a)
CG14077 34
  • 14 (a)
(Caenorhabditis elegans)
Secernentea tag-174 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX13 36
Species where no ortholog for COX6A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 squirt (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)
  • wheat (Triticum aestivum)

Evolution for COX6A1 Gene

Gene Tree for COX6A1 (if available)
Gene Tree for COX6A1 (if available)

Paralogs for COX6A1 Gene

Paralogs for COX6A1 Gene

(2) SIMAP similar genes for COX6A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with COX6A1: view

Variants for COX6A1 Gene

Sequence variations from dbSNP and Humsavar for COX6A1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs587777783 Pathogenic 120,440,444(+) ATCTT(-/CACTC)CACAG intron-variant
rs1000338369 -- 120,438,640(+) CTCAC(A/C)AACAG intron-variant
rs1000840044 -- 120,439,576(+) AGGCC(A/G)AGAAG intron-variant
rs1000950205 -- 120,439,806(+) GCATT(G/T)TGAAA intron-variant
rs1001062748 -- 120,440,731(+) ATTTA(G/T)ATTGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for COX6A1 Gene

Variant ID Type Subtype PubMed ID
nsv509482 CNV insertion 20534489
esv3630923 CNV gain 21293372

Variation tolerance for COX6A1 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COX6A1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX6A1 Gene

Disorders for COX6A1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for COX6A1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, recessive intermediate d
  • charcot-marie-tooth disease recessive intermediate d
charcot-marie-tooth neuropathy recessive intermediate d
  • charcot-marie-tooth disease, recessive intermediate d
charcot-marie-tooth disease, type 2r
  • charcot-marie-tooth disease type 2r
spastic paraplegia 55, autosomal recessive
  • hereditary spastic paraplegia 55
charcot-marie-tooth disease type 2a2
  • autosomal dominant axonal charcot-marie-tooth disease type 2a2
- elite association - COSMIC cancer census association via MalaCards


  • Charcot-Marie-Tooth disease, recessive, intermediate type, D (CMTRID) [MIM:616039]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:25152455}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COX6A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COX6A1: view

No data available for Genatlas for COX6A1 Gene

Publications for COX6A1 Gene

  1. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. (PMID: 25152455) Tamiya G … Hayasaka K (American journal of human genetics 2014) 3 4 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  3. Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening. (PMID: 18549809) Eun SY … Seo HG (Biochemical and biophysical research communications 2008) 3 22 60
  4. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 60
  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 60

Products for COX6A1 Gene

Sources for COX6A1 Gene

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