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Aliases for COX6A1 Gene

Aliases for COX6A1 Gene

  • Cytochrome C Oxidase Subunit 6A1 2 3
  • Cytochrome C Oxidase Subunit VIa Polypeptide 1 2 3 5
  • 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 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 Gene Expression and Metabolism. 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

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

Genomics for COX6A1 Gene

Regulatory Elements for COX6A1 Gene

Promoters for COX6A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COX6A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COX6A1 Gene

Chromosome:
12
Start:
120,438,090 bp from pter
End:
120,440,742 bp from pter
Size:
2,653 bases
Orientation:
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:
    P12074-CX6A1_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 6A1, mitochondrial
    Protein Accession:
    P12074
    Secondary Accessions:
    • B2R500
    • O43714
    • Q32Q37

    Protein attributes for COX6A1 Gene

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

neXtProt entry for COX6A1 Gene

Proteomics data for COX6A1 Gene at MOPED

Post-translational modifications for COX6A1 Gene

  • Ubiquitination at Lys 82
  • Modification sites at PhosphoSitePlus

Other Protein References for COX6A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COX6A1 Gene

Domains & Families for COX6A1 Gene

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

P12074

UniProtKB/Swiss-Prot:

CX6A1_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 6A family.
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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for COX6A1 Gene COMPARTMENTS Subcellular localization image for COX6A1 gene
Compartment Confidence
mitochondrion 5
cytosol 1
extracellular 1
lysosome 1
nucleus 1
peroxisome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for COX6A1 Gene

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:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0022904 respiratory electron transport chain TAS --
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) Additional Compounds for COX6A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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

No ASD Table

Relevant External Links for COX6A1 Gene

GeneLoc Exon Structure for
COX6A1
ECgene alternative splicing isoforms for
COX6A1

Expression for COX6A1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for COX6A1 Gene



SOURCE GeneReport for Unigene cluster for COX6A1 Gene Hs.369624

genes like me logo Genes that share expression patterns with COX6A1: view

Protein tissue co-expression partners for COX6A1 Gene

Primer Products

In Situ Assay Products

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
dog
(Canis familiaris)
Mammalia LOC477508 35
  • 87.04 (n)
  • 83.33 (a)
-- 36
  • 38 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Cox6a1 35
  • 82.41 (n)
  • 84.26 (a)
Cox6a1 16
Cox6a1 36
  • 81 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC100616508 35
  • 99.69 (n)
  • 100 (a)
COX6A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox6a1 35
  • 84.26 (n)
  • 83.33 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 83 (a)
ManyToMany
COX6A1 36
  • 84 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves COX6A1 35
  • 69.5 (n)
  • 65.09 (a)
COX6A1 36
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cox6a1 35
  • 62.26 (n)
  • 62.26 (a)
zebrafish
(Danio rerio)
Actinopterygii cox6a1 35
  • 60.9 (n)
  • 63.46 (a)
cox6a1 36
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000851 35
  • 61.33 (n)
  • 59 (a)
fruit fly
(Drosophila melanogaster)
Insecta levy 35
  • 56.73 (n)
  • 50.96 (a)
CG14077 36
  • 14 (a)
ManyToMany
CG30093 36
  • 43 (a)
ManyToMany
levy 36
  • 45 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-174 36
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX13 38
Species with no ortholog for COX6A1:
  • 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

ENSEMBL:
Gene Tree for COX6A1 (if available)
TreeFam:
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:

Pseudogenes.org Pseudogenes for COX6A1 Gene

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
rs8903 -- 120,440,727(+) TTAAA(C/G/T)TTAGA utr-variant-3-prime
rs1732849 -- 120,439,469(-) ctgca(A/C)cctcc intron-variant
rs2076022 -- 120,437,987(+) GACTC(C/T)GTCGT upstream-variant-2KB
rs2294287 -- 120,439,310(+) tcgcc(A/G/T)gaggt intron-variant
rs4238068 -- 120,437,284(+) agcta(C/T)tcagg upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv509482 CNV Insertion 20534489

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

HapMap Linkage Disequilibrium report
COX6A1
Human Gene Mutation Database (HGMD)
COX6A1

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

Disorders for COX6A1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CX6A1_HUMAN
  • 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)
COX6A1
Human Genome Epidemiology (HuGE) Navigator
COX6A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX6A1
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. (Am. J. Hum. Genet. 2014) 3 4 67
  2. Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening. (PMID: 18549809) Eun S.Y. … Seo H.G. (Biochem. Biophys. Res. Commun. 2008) 3 23
  3. Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids. (PMID: 9284905) Hey Y. … Varley J.M. (Cytogenet. Cell Genet. 1997) 2 3
  4. Molecular evolution of cytochrome c oxidase: rate variation among subunit VIa isoforms. (PMID: 9190060) Schmidt T.R. … Grossman L.I. (Mol. Biol. Evol. 1997) 3 23
  5. HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. (PMID: 22419111) Lecoeur H. … Jacotot E. (Cell Death Dis 2012) 3

Products for COX6A1 Gene

Sources for COX6A1 Gene

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