COX15
entrez
1355
canonical
uniprot
Q7KZN9
canonical
ensembl
ENSG00000014919
resolver
ensp
ENSP00000016171
resolver
ensp
ENSP00000359514
resolver
ensp
ENSP00000549849
resolver
ensp
ENSP00000671664
resolver
ensp
ENSP00000726910
resolver
ensp
ENSP00000726911
resolver
ensp
ENSP00000735366
resolver
ensp
ENSP00000774516
resolver
genesymbol
COX15
resolver
hgnc
HGNC:2263
resolver
uniprot
A8K6I9
resolver
uniprot
B4DQM2
resolver
uniprot
O60556
resolver
uniprot
O75878
resolver
uniprot
Q5TD00
resolver
uniprot
Q5TD01
resolver
uniprot
Q7Z3Q3
resolver
uniprot
Q9NTN0
resolver
uniprot_entry
B4DQM2_HUMAN
resolver
uniprot_entry
COX15_HUMAN
resolver
uniprot_sec
A8K6I9
resolver
uniprot_sec
O60556
resolver
uniprot_sec
O75878
resolver
uniprot_sec
Q5TD00
resolver
uniprot_sec
Q5TD01
resolver
uniprot_sec
Q7Z3Q3
resolver
uniprot_sec
Q9NTN0
resolver
amino_acid_sequence
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 6 (MC4DN6) [MIM:615119]: An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels. {ECO:0000269|PubMed:12474143, ECO:0000269|PubMed:15235026, ECO:0000269|PubMed:15863660, ECO:0000269|PubMed:21412973}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.17.99.9
uniprot
proteins
function
FUNCTION: Catalyzes the second reaction in the biosynthesis of heme A, a prosthetic group of mitochondrial cytochrome c oxidase (CcO) (PubMed:12474143). Heme A is synthesized from heme B by two sequential enzymatic reactions catalyzed by heme O synthase (HOS) and heme A synthase (HAS). HAS catalyzes the conversion of heme O to heme A by two successive hydroxylations of the methyl group at C8, in a reaction that involves matrix ferredoxin and ferredoxin reductase. The first hydroxylation forms heme I, the second hydroxylation results in an unstable dihydroxymethyl group, which spontaneously dehydrates, resulting in the formyl group of heme A (By similarity). {ECO:0000250|UniProtKB:P40086, ECO:0000269|PubMed:12474143}.
uniprot
proteins
mass_dalton
46030
uniprot
proteins
pathway_participation
PATHWAY: Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O: step 1/1. {ECO:0000250|UniProtKB:P40086}.
uniprot
proteins
protein_family
COX15/CtaA family
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
pubmed
12474143
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15235026
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15863660
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21412973
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9878253
uniprot
proteins
sequence_length
410
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:9878253}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 154..171; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 184..204; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 227..247; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 269..289; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 324..344; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 357..377; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 382..402; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins