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Identification
HMDB Protein ID HMDBP08634
Secondary Accession Numbers
  • 14350
Name Cytochrome c oxidase assembly protein COX15 homolog
Synonyms Not Available
Gene Name COX15
Protein Type Unknown
Biological Properties
General Function Involved in protein complex assembly
Specific Function May be involved in the biosynthesis of heme A.
Pathways
  • Acute Intermittent Porphyria
  • Congenital Erythropoietic Porphyria (CEP) or Gunther Disease
  • heme A biosynthesis
  • Hereditary Coproporphyria (HCP)
  • Oxidative phosphorylation
  • Porphyria Variegata (PV)
  • Porphyrin and chlorophyll metabolism
  • Porphyrin Metabolism
Reactions
Heme O → Heme A details
GO Classification
Biological Process
heme a biosynthetic process
mitochondrial electron transport, cytochrome c to oxygen
respiratory chain complex IV assembly
respiratory gaseous exchange
Cellular Component
mitochondrial respiratory chain
integral to membrane
Component
membrane
cell part
Function
catalytic activity
Molecular Function
cytochrome-c oxidase activity
oxidoreductase activity, acting on the CH-CH group of donors
Process
cellular component organization or biogenesis
cellular component organization
cellular component assembly
macromolecular complex assembly
protein complex assembly
Cellular Location
  1. Mitochondrion membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs COX15
Gene Sequence
>1233 bp
ATGCAGCGATTGCTCTTTCCGCCGTTGAGGGCCTTGAAGGGGAGGCAGTATCTGCCGCTC
CTGGCTCCTAGGGCAGCGCCTAAAGCACAGTGTGATTGCATCAGGCGCCCTTTGAGGCCA
GGGCAATACAGCACCATCTCTGAAGTAGCTTTGCAATCTGGAAGGGGTACAGTGTCCCTT
CCCTCAAAGGCTGCTGAGCGGGTGGTGGGCCGATGGCTCCTGGTCTGCAGTGGAACAGTG
GCTGGAGCAGTTATTCTTGGTGGAGTAACTAGGTTGACAGAGTCTGGCCTCTCGATGGTA
GATTGGCATTTAATAAAGGAGATGAAGCCACCTACAAGCCAAGAGGAATGGGAAGCAGAA
TTCCAAAGATACCAGCAATTTCCAGAATTTAAAATCTTGAATCATGATATGACACTGACA
GAATTCAAGTTCATCTGGTACATGGAGTACTCACACCGAATGTGGGGTCGCCTTGTAGGC
CTTGTGTACATCCTGCCTGCTGCCTACTTTTGGAGAAAGGGCTGGCTCAGCCGTGGCATG
AAAGGACGTGTTCTTGCCCTCTGTGGCCTCGTCTGCTTCCAGGGTCTGTTGGGATGGTAT
ATGGTGAAAAGTGGACTAGAAGAAAAATCAGACTCCCATGACATCCCTCGGGTCAGTCAG
TACCGCCTTGCTGCCCACCTGGGATCAGCCCTGGTTCTTTATTGTGCCAGCTTGTGGACC
TCACTGTCACTGCTACTCCCTCCGCACAAGTTGCCTGAAACCCACCAACTCCTACAGTTG
AGACGATTTGCTCATGGAACAGCAGGTCTGGTGTTCCTTACGGCCCTCTCAGGGGCTTTT
GTGGCAGGGCTAGATGCTGGGCTTGTTTATAACTCCTTTCCCAAAATGGGAGAATCCTGG
ATCCCGGAGGACCTCTTTACCTTCTCCCCCATCCTGAGGAATGTTTTTGAGAATCCCACC
ATGGTGCAGTTTGATCACCGGATTCTGGGAATCACTTCAGTCACTGCCATTACAGTGCTC
TACTTCCTCTCTCGGAGAATTCCCCTTCCTAGAAGGACCAAGATGGCAGCAGTGACTCTG
CTGGCTTTGGCGTATACACAGGTGGGCTTGGGCATCAGCACGCTGCTGATGTATGTCCCA
ACTCCTCTGGCCGCCACTCACCAGTCAGGCTCCTTGGCTTTGCTCACTGGTGCTCTTTGG
CTGATGAATGAACTCCGAAGAGTCCCAAAATGA
Protein Properties
Number of Residues 410
Molecular Weight Not Available
Theoretical pI Not Available
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Cytochrome c oxidase assembly protein COX15 homolog
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSL
PSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAE
FQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGM
KGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESW
IPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTL
LALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK
GenBank ID Protein 3603230
UniProtKB/Swiss-Prot ID Q7KZN9
UniProtKB/Swiss-Prot Entry Name COX15_HUMAN
PDB IDs Not Available
GenBank Gene ID AF026850
GeneCard ID COX15
GenAtlas ID COX15
HGNC ID HGNC:2263
References
General References
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  4. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
  5. Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M: 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. Genomics. 1998 Dec 15;54(3):494-504. [PubMed:9878253 ]
  6. Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA: Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet. 2003 Jan;72(1):101-14. Epub 2002 Dec 9. [PubMed:12474143 ]
  7. Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK: Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. J Med Genet. 2004 Jul;41(7):540-4. [PubMed:15235026 ]
  8. Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M: Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet. 2005 May;42(5):e28. [PubMed:15863660 ]