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Aliases for COX15 Gene

Aliases for COX15 Gene

  • Cytochrome C Oxidase Assembly Homolog 15 (Yeast) 2 3
  • CEMCOX2 3 6
  • COX15 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein 2
  • COX15 Homolog, Cytochrome C Oxidase Assembly Protein (Yeast) 2
  • COX15 Homolog, Cytochrome C Oxidase Assembly Protein 3
  • Cytochrome C Oxidase Assembly Protein COX15 Homolog 3
  • Cytochrome C Oxidase Subunit 15 3
  • EC 3.1.3.5 63
  • EC 1.4.4.2 63

External Ids for COX15 Gene

Previous GeneCards Identifiers for COX15 Gene

  • GC10M100364
  • GC10M100705
  • GC10M101602
  • GC10M101136
  • GC10M101461
  • GC10M095095

Summaries for COX15 Gene

Entrez Gene Summary for COX15 Gene

  • Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX15 Gene

COX15 (Cytochrome C Oxidase Assembly Homolog 15 (Yeast)) is a Protein Coding gene. Diseases associated with COX15 include cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 and fatal infantile cytochrome c oxidase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include cytochrome-c oxidase activity and oxidoreductase activity, acting on the CH-CH group of donors.

UniProtKB/Swiss-Prot for COX15 Gene

  • May be involved in the biosynthesis of heme A.

Gene Wiki entry for COX15 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX15 Gene

Genomics for COX15 Gene

Regulatory Elements for COX15 Gene

Genomic Location for COX15 Gene

Start:
99,696,131 bp from pter
End:
99,732,666 bp from pter
Size:
36,536 bases
Orientation:
Minus strand

Genomic View for COX15 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COX15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX15 Gene

Proteins for COX15 Gene

  • Protein details for COX15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7KZN9-COX15_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly protein COX15 homolog
    Protein Accession:
    Q7KZN9
    Secondary Accessions:
    • A8K6I9
    • O60556
    • O75878
    • Q5TD00
    • Q5TD01
    • Q7Z3Q3
    • Q9NTN0

    Protein attributes for COX15 Gene

    Size:
    410 amino acids
    Molecular mass:
    46030 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COX15 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COX15 Gene

Proteomics data for COX15 Gene at MOPED

Selected DME Specific Peptides for COX15 Gene

Post-translational modifications for COX15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX15 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for COX15 Gene

Gene Families for COX15 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for COX15 Gene

Suggested Antigen Peptide Sequences for COX15 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7KZN9

UniProtKB/Swiss-Prot:

COX15_HUMAN :
  • Q7KZN9
Family:
  • Belongs to the COX15/CtaA family.
genes like me logo Genes that share domains with COX15: view

Function for COX15 Gene

Molecular function for COX15 Gene

GENATLAS Biochemistry: cytochrome c oxidase,subunit 15,inner mitochondrial membrane in yeast,two isoforms most likely involved in assembly of the backbone of c oxidase
UniProtKB/Swiss-Prot Function: May be involved in the biosynthesis of heme A.

Enzyme Numbers (IUBMB) for COX15 Gene

Gene Ontology (GO) - Molecular Function for COX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004129 cytochrome-c oxidase activity TAS 9878253
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with COX15: view
genes like me logo Genes that share phenotypes with COX15: view

Animal Models for COX15 Gene

MGI Knock Outs for COX15:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for COX15 Gene

Localization for COX15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX15 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COX15 Gene COMPARTMENTS Subcellular localization image for COX15 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 9878253
GO:0005743 mitochondrial inner membrane TAS --
GO:0005746 mitochondrial respiratory chain TAS 9878253
GO:0016021 integral component of membrane IEA --
GO:0070069 cytochrome complex IDA 12474143
genes like me logo Genes that share ontologies with COX15: view

Pathways for COX15 Gene

genes like me logo Genes that share pathways with COX15: view

Pathways by source for COX15 Gene

1 Qiagen pathway for COX15 Gene
1 BioSystems pathway for COX15 Gene

UniProtKB/Swiss-Prot Q7KZN9-COX15_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O: step 1/1

Gene Ontology (GO) - Biological Process for COX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IC 12474143
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006783 heme biosynthetic process TAS --
GO:0006784 heme a biosynthetic process IGI 12474143
GO:0007585 respiratory gaseous exchange TAS 9878253
genes like me logo Genes that share ontologies with COX15: view

Compounds for COX15 Gene

(2) HMDB Compounds for COX15 Gene

Compound Synonyms Cas Number PubMed IDs
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
Heme
  • (protoporphyrinato)iron
14875-96-8
genes like me logo Genes that share compounds with COX15: view

Transcripts for COX15 Gene

Unigene Clusters for COX15 Gene

Cytochrome c oxidase assembly homolog 15 (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COX15 Gene

No ASD Table

Relevant External Links for COX15 Gene

GeneLoc Exon Structure for
COX15
ECgene alternative splicing isoforms for
COX15

Expression for COX15 Gene

mRNA expression in normal human tissues for COX15 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COX15 Gene

SOURCE GeneReport for Unigene cluster for COX15 Gene Hs.28326

mRNA Expression by UniProt/SwissProt for COX15 Gene

Q7KZN9-COX15_HUMAN
Tissue specificity: Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.
genes like me logo Genes that share expressions with COX15: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COX15 Gene

Orthologs for COX15 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COX15 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX15 35
  • 99.59 (n)
  • 100 (a)
COX15 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COX15 35
  • 90.41 (n)
  • 91.46 (a)
COX15 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX15 35
  • 90.41 (n)
  • 92.68 (a)
COX15 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cox15 35
  • 86.83 (n)
  • 90.49 (a)
Cox15 16
Cox15 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COX15 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX15 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox15 35
  • 87.64 (n)
  • 89.51 (a)
chicken
(Gallus gallus)
Aves COX15 35
  • 74.81 (n)
  • 82.87 (a)
COX15 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX15 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25389 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486044 35
  • 71.24 (n)
  • 78.1 (a)
Str.137 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12248 35
zebrafish
(Danio rerio)
Actinopterygii cox15 35
  • 68.15 (n)
  • 74.08 (a)
cox15 36
  • 71 (a)
OneToOne
zgc56240 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001744 35
  • 59.45 (n)
  • 60.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3803 35
  • 57.29 (n)
  • 54.92 (a)
CG3803 36
  • 53 (a)
OneToOne
CG3803 37
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea cox-15 36
  • 49 (a)
OneToOne
T06D8.5 35
  • 53.11 (n)
  • 51.98 (a)
T06D8.5 37
  • 51 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR012C 35
  • 50.68 (n)
  • 45.48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX15 35
  • 48.83 (n)
  • 44.44 (a)
COX15 36
  • 34 (a)
OneToOne
COX15 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E10385g 35
  • 50.13 (n)
  • 44.76 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11664 35
thale cress
(Arabidopsis thaliana)
eudicotyledons COX15 35
  • 50.78 (n)
  • 45.45 (a)
rice
(Oryza sativa)
Liliopsida Os08g0496000 35
  • 50.35 (n)
  • 45.77 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04817 35
  • 52.37 (n)
  • 47.83 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes etp1 35
  • 47.81 (n)
  • 46.65 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13923 35
Species with no ortholog for COX15:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX15 Gene

ENSEMBL:
Gene Tree for COX15 (if available)
TreeFam:
Gene Tree for COX15 (if available)

Paralogs for COX15 Gene

No data available for Paralogs for COX15 Gene

Variants for COX15 Gene

Sequence variations from dbSNP and Humsavar for COX15 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs12416 -- 99,712,119(-) catgg(G/T)ggcgg utr-variant-3-prime, intron-variant
rs1033757 -- 99,716,006(+) TTTTT(A/T)AAACA intron-variant
rs1128642 -- 99,711,938(-) gcttc(A/G)tgagg utr-variant-3-prime, intron-variant
rs1802213 -- 99,712,497(-) GAGAT(A/G)CTGGA utr-variant-3-prime, intron-variant
rs2231680 -- 99,727,698(-) AGAAA(C/T)GTCTC intron-variant

Relevant External Links for COX15 Gene

HapMap Linkage Disequilibrium report
COX15
Human Gene Mutation Database (HGMD)
COX15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for COX15 Gene

Disorders for COX15 Gene

(2) OMIM Diseases for COX15 Gene (603646)

UniProtKB/Swiss-Prot

COX15_HUMAN
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119]: An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle. {ECO:0000269 PubMed:12474143, ECO:0000269 PubMed:21412973}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:15235026, ECO:0000269 PubMed:15863660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for COX15 Gene

(2) Novoseek inferred disease relationships for COX15 Gene

Disease -log(P) Hits PubMed IDs
cytochrome c oxidase deficiency 92.9 1
leigh syndrome 85.8 3

Relevant External Links for COX15

Genetic Association Database (GAD)
COX15
Human Genome Epidemiology (HuGE) Navigator
COX15
genes like me logo Genes that share disorders with COX15: view

Publications for COX15 Gene

  1. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. (PMID: 12474143) Antonicka H. … Shoubridge E.A. (Am. J. Hum. Genet. 2003) 3 4 23
  2. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PMID: 9878253) Petruzzella V. … Zeviani M. (Genomics 1998) 2 3 4
  3. Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease. (PMID: 19826901) Vitali M. … Finazzi D. (J Neural Transm 2009) 3 48
  4. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. (PMID: 15863660) Bugiani M. … Zeviani M. (J. Med. Genet. 2005) 4 23
  5. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. (PMID: 15235026) Oquendo C.E. … Brown G.K. (J. Med. Genet. 2004) 3 4

Products for COX15 Gene

Sources for COX15 Gene

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