InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCO1

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

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.

Experimentally validated
Total	6 [view]
Protein-Protein	3 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005507	copper ion binding
GO:0016209	antioxidant activity
GO:0016491	oxidoreductase activity

Biological Process

GO:0006091	generation of precursor metabolites and energy
GO:0006825	copper ion transport
GO:0006878	cellular copper ion homeostasis
GO:0008535	respiratory chain complex IV assembly
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0030016	myofibril

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

PFAM

PF00578
PF02630
PF13098
PF13192
PF13462
PF13905

PRINTS

PIRSF

PIRSF037736

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O75880