InnateDB Protein
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IDBP-86107.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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COX15
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Protein Name
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COX15 homolog, cytochrome c oxidase assembly protein (yeast)
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Synonyms
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CEMCOX2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000016171
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InnateDB Gene
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IDBG-86103 (COX15)
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Protein Structure
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Function |
May be involved in the biosynthesis of heme A. {ECO:0000269PubMed:12474143}.
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Subcellular Localization |
Mitochondrion membrane {ECO:0000269PubMed:9878253}; Multi-pass membrane protein {ECO:0000269PubMed:9878253}.
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Disease Associations |
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:0000269PubMed:12474143, ECO:0000269PubMed: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:0000269PubMed:15235026, ECO:0000269PubMed:15863660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. {ECO:0000269PubMed:9878253}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
15
[view]
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Protein-Protein |
13
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003824
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catalytic activity
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GO:0004129
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cytochrome-c oxidase activity
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GO:0016627
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oxidoreductase activity, acting on the CH-CH group of donors
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003780
COX15/CtaA family
IPR009003
Trypsin-like cysteine/serine peptidase domain
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PFAM |
PF02628
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7KZN9
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PhosphoSite |
PhosphoSite-Q7KZN9
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TrEMBL |
B4DQM2
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UniProt Splice Variant |
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Entrez Gene |
1355
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UniGene |
Hs.718750
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RefSeq |
NP_510870
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HUGO |
HGNC:2263
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OMIM |
603646
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CCDS |
CCDS7482
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HPRD |
04707
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IMGT |
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EMBL |
AF026850
AF044323
AK291654
AK298864
AL133353
BC002382
BC013403
BC078161
BT007129
BX537557
CH471066
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GenPept |
AAD08639
AAD08646
AAH02382
AAH13403
AAH78161
AAP35793
BAF84343
BAG60984
CAB88197
CAB88198
CAD97781
EAW49857
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