COX15 | ENSG00000014919 | NCBI 1355

Details for: COX15

Gene ID: 1355

Symbol: COX15

Ensembl ID: ENSG00000014919

Description: cytochrome c oxidase assembly homolog COX15

Associated with

Heme biosynthesis
(R-HSA-189451)
Metabolism
(R-HSA-1430728)
Metabolism of porphyrins
(R-HSA-189445)
Cellular respiration
(GO:0045333)
Cytochrome-c oxidase activity
(GO:0004129)
Cytochrome complex
(GO:0070069)
Heme a biosynthetic process
(GO:0006784)
Heme binding
(GO:0020037)
Heme biosynthetic process
(GO:0006783)
Mitochondrial electron transport, cytochrome c to oxygen
(GO:0006123)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrial respirasome
(GO:0005746)
Mitochondrion
(GO:0005739)
Molecular adaptor activity
(GO:0060090)
Nucleoplasm
(GO:0005654)
Oxidoreductase activity, acting on nad(p)h, heme protein as acceptor
(GO:0016653)
Oxidoreductase activity, acting on the ch-ch group of donors
(GO:0016627)
Protein binding
(GO:0005515)
Proton transmembrane transport
(GO:1902600)
Respiratory chain complex iv assembly
(GO:0008535)
Respiratory gaseous exchange by respiratory system
(GO:0007585)

Other Information

Proteins

Cytochrome c oxidase assembly protein COX15 homolog
B4DQM2_HUMAN

Genular Protein ID: 1897245697

Symbol: COX15_HUMAN

Name: Cytochrome c oxidase assembly protein COX15 homolog

UniProtKB Accession Codes:

Q7KZN9 A8K6I9 O60556 O75878 Q5TD00 Q5TD01 Q7Z3Q3 Q9NTN0

Database IDs:

Citations:

PubMed ID: 9878253

Title: 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.

PubMed ID: 9878253

DOI: 10.1006/geno.1998.5580

PubMed ID: 12474143

Title: Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

PubMed ID: 12474143

DOI: 10.1086/345489

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 15235026

Title: Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

PubMed ID: 15235026

DOI: 10.1136/jmg.2003.017426

PubMed ID: 15863660

Title: Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

PubMed ID: 15863660

DOI: 10.1136/jmg.2004.029926

PubMed ID: 21412973

Title: Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

PubMed ID: 21412973

DOI: 10.1002/ajmg.a.33881

Sequence Information:

Length: 410
Mass: 46030
Checksum: 98E9FD9D1D28EFC0
Sequence:

MQRLLFPPLR ALKGRQYLPL LAPRAAPRAQ CDCIRRPLRP GQYSTISEVA LQSGRGTVSL 
PSKAAERVVG RWLLVCSGTV AGAVILGGVT RLTESGLSMV DWHLIKEMKP PTSQEEWEAE 
FQRYQQFPEF KILNHDMTLT EFKFIWYMEY SHRMWGRLVG LVYILPAAYF WRKGWLSRGM 
KGRVLALCGL VCFQGLLGWY MVKSGLEEKS DSHDIPRVSQ YRLAAHLGSA LVLYCASLWT 
SLSLLLPPHK LPETHQLLQL RRFAHGTAGL VFLTALSGAF VAGLDAGLVY NSFPKMGESW 
IPEDLFTFSP ILRNVFENPT MVQFDHRILG ITSVTAITVL YFLSRRIPLP RRTKMAAVTL 
LALAYTQVGL GISTLLMYVP TPLAATHQSG SLALLTGALW LMNELRRVPK

Genular Protein ID: 3249979197

Symbol: B4DQM2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DQM2

Database IDs:

Sequence Information:

Length: 231
Mass: 25434
Checksum: 58217136B120E68B
Sequence:

MKGRVLALCG LVCFQGLLGW YMVKSGLEEK SDSHDIPRVS QYRLAAHLGS ALVLYCASLW 
TSLSLLLPPH KLPETHQLLQ LRRFAHGTAG LVFLTALSGA FVAGLDAGLV YNSFPKMGES 
WIPEDLFTFS PILRNVFENP TMVQFDHRIL GITSVTAITV LYFLSRRIPL PRRTKMAAVT 
LLALAYTQVG LGISTLLMYV PTPLAATHQS GSLALLTGAL WLMNELRRVP K

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: COX15

Associated with

Other Information

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. PubMed ID: 9878253

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. PubMed ID: 12474143

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

The DNA sequence and comparative analysis of human chromosome 10. PubMed ID: 15164054

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Initial characterization of the human central proteome. PubMed ID: 21269460

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. PubMed ID: 15235026

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. PubMed ID: 15863660

Infantile cardioencephalopathy due to a COX15 gene defect: report and review. PubMed ID: 21412973