O75880 · SCO1_HUMAN
- ProteinProtein SCO1 homolog, mitochondrial
- GeneSCO1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids301 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Not required for the synthesis of MT-CO2/COX2 but plays a crucial role in stabilizing MT-CO2/COX2 during its subsequent maturation. Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478).
Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity).
Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity).
Features
Showing features for binding site.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrion | |
Cellular Component | myofibril | |
Molecular Function | copper chaperone activity | |
Molecular Function | copper ion binding | |
Biological Process | intracellular copper ion homeostasis | |
Biological Process | mitochondrial cytochrome c oxidase assembly |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProtein SCO1 homolog, mitochondrial
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO75880
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion inner membrane ; Single-pass membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 68-92 | Mitochondrial matrix | ||||
Sequence: STARPPPPWSQKGPGDSTRPSKPGP | ||||||
Transmembrane | 93-111 | Helical | ||||
Sequence: VSWKSLAITFAIGGALLAG | ||||||
Topological domain | 112-301 | Mitochondrial intermembrane | ||||
Sequence: MKHVKKEKAEKLEKERQRHIGKPLLGGPFSLTTHTGERKTDKDYLGQWLLIYFGFTHCPDVCPEELEKMIQVVDEIDSITTLPDLTPLFISIDPERDTKEAIANYVKEFSPKLVGLTGTREEVDQVARAYRVYYSPGPKDEDEDYIVDHTIIMYLIGPDGEFLDYFGQNKRKGEIAASIATHMRPYRKKS |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Mitochondrial complex IV deficiency, nuclear type 4 (MC4DN4)
- Note
- DescriptionAn autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
- See alsoMIM:619048
Natural variants in MC4DN4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_012109 | 174 | P>L | in MC4DN4; no effect on synthesis of cytochrome c oxidase subunit II; reduced stability of newly synthesized cytochrome c oxidase subunit II; reduced copper-binding; dbSNP:rs104894630 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_014537 | 58 | in dbSNP:rs1802083 | |||
Sequence: P → S | ||||||
Natural variant | VAR_012109 | 174 | in MC4DN4; no effect on synthesis of cytochrome c oxidase subunit II; reduced stability of newly synthesized cytochrome c oxidase subunit II; reduced copper-binding; dbSNP:rs104894630 | |||
Sequence: P → L |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 375 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-67 | Mitochondrion | ||||
Sequence: MAMLVLVPGRVMRPLGGQLWRFLPRGLEFWGPAEGTARVLLRQFCARQAEAWRASGRPGYCLGTRPL | ||||||
Chain | PRO_0000031921 | 68-301 | Protein SCO1 homolog, mitochondrial | |||
Sequence: STARPPPPWSQKGPGDSTRPSKPGPVSWKSLAITFAIGGALLAGMKHVKKEKAEKLEKERQRHIGKPLLGGPFSLTTHTGERKTDKDYLGQWLLIYFGFTHCPDVCPEELEKMIQVVDEIDSITTLPDLTPLFISIDPERDTKEAIANYVKEFSPKLVGLTGTREEVDQVARAYRVYYSPGPKDEDEDYIVDHTIIMYLIGPDGEFLDYFGQNKRKGEIAASIATHMRPYRKKS | ||||||
Disulfide bond | 169↔173 | Redox-active | ||||
Sequence: CPDVC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer (PubMed:15229189, PubMed:16735468).
Interacts with COA6 (PubMed:26160915).
Found in a complex with TMEM177, COX20, COA6, MT-CO2/COX2, COX18 and SCO2 (PubMed:29154948).
Interacts with TMEM177 in a COX20-dependent manner (PubMed:29154948).
Interacts with COX20 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:24403053, PubMed:28330871, PubMed:29154948).
Interacts with COX16 (PubMed:29381136).
Interacts with COA6 (PubMed:26160915).
Found in a complex with TMEM177, COX20, COA6, MT-CO2/COX2, COX18 and SCO2 (PubMed:29154948).
Interacts with TMEM177 in a COX20-dependent manner (PubMed:29154948).
Interacts with COX20 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:24403053, PubMed:28330871, PubMed:29154948).
Interacts with COX16 (PubMed:29381136).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O75880 | CIDEB Q9UHD4 | 3 | EBI-6656171, EBI-7062247 | |
BINARY | O75880 | COMT P21964-2 | 3 | EBI-6656171, EBI-10200977 | |
BINARY | O75880 | COX17 Q14061 | 3 | EBI-6656171, EBI-711311 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 63-91 | Disordered | ||||
Sequence: GTRPLSTARPPPPWSQKGPGDSTRPSKPG | ||||||
Region | 118-131 | Important for dimerization | ||||
Sequence: EKAEKLEKERQRHI |
Sequence similarities
Belongs to the SCO1/2 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length301
- Mass (Da)33,814
- Last updated1998-11-01 v1
- ChecksumC4A0F35A1741894F
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF026852 EMBL· GenBank· DDBJ | AAD08641.1 EMBL· GenBank· DDBJ | mRNA | ||
AF295386 EMBL· GenBank· DDBJ | AAG23836.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF295381 EMBL· GenBank· DDBJ | AAG23836.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF295382 EMBL· GenBank· DDBJ | AAG23836.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF295383 EMBL· GenBank· DDBJ | AAG23836.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF295384 EMBL· GenBank· DDBJ | AAG23836.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF295385 EMBL· GenBank· DDBJ | AAG23836.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF183424 EMBL· GenBank· DDBJ | AAG09693.1 EMBL· GenBank· DDBJ | mRNA | ||
AK315595 EMBL· GenBank· DDBJ | BAG37967.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471108 EMBL· GenBank· DDBJ | EAW89997.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC015504 EMBL· GenBank· DDBJ | AAH15504.1 EMBL· GenBank· DDBJ | mRNA | ||
AF131816 EMBL· GenBank· DDBJ | AAD20051.1 EMBL· GenBank· DDBJ | mRNA |