Homo sapiens Protein: SCO1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-30645.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SCO1 | ||||||||||||||||||
Protein Name | SCO cytochrome oxidase deficient homolog 1 (yeast) | ||||||||||||||||||
Synonyms | SCOD1; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000255390 | ||||||||||||||||||
InnateDB Gene | IDBG-30643 (SCO1) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX. {ECO:0000269PubMed:15659396, ECO:0000269PubMed:16735468, ECO:0000269PubMed:17189203}. | ||||||||||||||||||
Subcellular Localization | Mitochondrion {ECO:0000269PubMed:9878253}. | ||||||||||||||||||
Disease Associations | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269PubMed:11013136}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. {ECO:0000269PubMed:9878253}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000866
Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant IPR003782 Copper chaperone SCO1/SenC IPR012336 Thioredoxin-like fold IPR017276 Synthesis of cytochrome c oxidase, Sco1/Sco2 |
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PFAM |
PF00578
PF02630 PF13098 PF13192 PF13462 PF13905 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF037736
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SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O75880 | ||||||||||||||||||
PhosphoSite | PhosphoSite-O75880 | ||||||||||||||||||
TrEMBL | J3QR42 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 6341 | ||||||||||||||||||
UniGene | Hs.14511 | ||||||||||||||||||
RefSeq | NP_004580 | ||||||||||||||||||
HUGO | HGNC:10603 | ||||||||||||||||||
OMIM | 603644 | ||||||||||||||||||
CCDS | CCDS11158 | ||||||||||||||||||
HPRD | 04705 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC002347 AF026852 AF131816 AF183424 AF295381 AF295382 AF295383 AF295384 AF295385 AF295386 AK315595 BC015504 CH471108 | ||||||||||||||||||
GenPept | AAD08641 AAD20051 AAG09693 AAG23836 AAH15504 BAG37967 EAW89997 | ||||||||||||||||||