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Protein

Protein SCO2 homolog, mitochondrial

Gene

SCO2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:17189203). Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478).3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi133Copper1 Publication1
Metal bindingi137Copper1 Publication1
Metal bindingi224Copper1 Publication1

GO - Molecular functioni

  • copper ion binding Source: UniProtKB
  • protein disulfide oxidoreductase activity Source: UniProtKB

GO - Biological processi

  • cell redox homeostasis Source: InterPro
  • cellular copper ion homeostasis Source: InterPro
  • copper ion transport Source: InterPro
  • eye development Source: UniProtKB
  • mitochondrial respiratory chain complex IV assembly Source: UniProtKB
  • oxidation-reduction process Source: UniProtKB

Keywordsi

Molecular functionChaperone
LigandCopper, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SCO2 homolog, mitochondrial
Gene namesi
Name:SCO2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000130489.12
HGNCiHGNC:10604 SCO2
MIMi604272 gene
neXtProtiNX_O43819

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini42 – 60Mitochondrial matrix1 PublicationAdd BLAST19
Transmembranei61 – 78HelicalSequence analysisAdd BLAST18
Topological domaini79 – 266Mitochondrial intermembrane1 PublicationAdd BLAST188

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency.
See also OMIM:604377
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070054133C → Y in CEMCOX1. 1 PublicationCorresponds to variant dbSNP:rs28937868EnsemblClinVar.1
Natural variantiVAR_013238171R → W in CEMCOX1; renders the protein unstable. 2 PublicationsCorresponds to variant dbSNP:rs28937598EnsemblClinVar.1
Natural variantiVAR_008875225S → F in CEMCOX1. 1 PublicationCorresponds to variant dbSNP:rs80358232EnsemblClinVar.1
Myopia 6 (MYP6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.
See also OMIM:608908
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074010112R → W in MYP6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370130010Ensembl.1
Natural variantiVAR_070053114R → H in MYP6; remains stable in mitochondria; reduces the level of the protein copurifying with COA6 by 80%. 2 PublicationsCorresponds to variant dbSNP:rs145100473EnsemblClinVar.1
Natural variantiVAR_074011120R → W in MYP6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375954523Ensembl.1
Natural variantiVAR_051912259A → V in MYP6. 1 PublicationCorresponds to variant dbSNP:rs8139305EnsemblClinVar.1
Leigh syndrome (LS)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076282258M → T in LS. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi9997
MalaCardsiSCO2
MIMi256000 phenotype
604377 phenotype
608908 phenotype
OpenTargetsiENSG00000130489
Orphaneti1561 Fatal infantile cytochrome C oxidase deficiency
70474 Leigh syndrome with cardiomyopathy
98619 Rare isolated myopia
PharmGKBiPA35013

Polymorphism and mutation databases

BioMutaiSCO2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 41MitochondrionSequence analysisAdd BLAST41
ChainiPRO_000003192242 – 266Protein SCO2 homolog, mitochondrialAdd BLAST225

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi133 ↔ 137Redox-activePROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiO43819
MaxQBiO43819
PaxDbiO43819
PeptideAtlasiO43819
PRIDEiO43819
ProteomicsDBi49182

PTM databases

iPTMnetiO43819
PhosphoSitePlusiO43819

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000130489 Expressed in 200 organ(s), highest expression level in right uterine tube
CleanExiHS_SCO2
GenevisibleiO43819 HS

Organism-specific databases

HPAiHPA046943
HPA056254

Interactioni

Subunit structurei

Homodimer (PubMed:15229189). Interacts with COA6 (PubMed:25959673). Found in a complex with TMEM177, COX20, COA6, MT-CO2/COX2, COX18 and SCO1 (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:29154948, PubMed:24403053, PubMed:28330871). Interacts with COX16 (PubMed:29381136).6 Publications

Protein-protein interaction databases

BioGridi115317, 53 interactors
DIPiDIP-46088N
IntActiO43819, 27 interactors
MINTiO43819
STRINGi9606.ENSP00000252785

Structurei

Secondary structure

1266
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO43819
SMRiO43819
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO43819

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini85 – 259ThioredoxinPROSITE-ProRule annotationAdd BLAST175

Sequence similaritiesi

Belongs to the SCO1/2 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2792 Eukaryota
COG1999 LUCA
GeneTreeiENSGT00390000004323
HOGENOMiHOG000258140
HOVERGENiHBG000428
InParanoidiO43819
KOiK07152
OMAiQDFHPRL
OrthoDBiEOG091G0DJ5
PhylomeDBiO43819
TreeFamiTF313752

Family and domain databases

CDDicd02968 SCO, 1 hit
InterProiView protein in InterPro
IPR003782 SCO1/SenC
IPR017276 Synth_of_cyt-c-oxidase_Sco1/2
IPR036249 Thioredoxin-like_sf
IPR013766 Thioredoxin_domain
PANTHERiPTHR12151 PTHR12151, 1 hit
PfamiView protein in Pfam
PF02630 SCO1-SenC, 1 hit
PIRSFiPIRSF037736 SCO1, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit
PROSITEiView protein in PROSITE
PS51352 THIOREDOXIN_2, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O43819-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLLLTRSPTA WHRLSQLKPR VLPGTLGGQA LHLRSWLLSR QGPAETGGQG
60 70 80 90 100
QPQGPGLRTR LLITGLFGAG LGGAWLALRA EKERLQQQKR TEALRQAAVG
110 120 130 140 150
QGDFHLLDHR GRARCKADFR GQWVLMYFGF THCPDICPDE LEKLVQVVRQ
160 170 180 190 200
LEAEPGLPPV QPVFITVDPE RDDVEAMARY VQDFHPRLLG LTGSTKQVAQ
210 220 230 240 250
ASHSYRVYYN AGPKDEDQDY IVDHSIAIYL LNPDGLFTDY YGRSRSAEQI
260
SDSVRRHMAA FRSVLS
Length:266
Mass (Da):29,810
Last modified:May 30, 2000 - v3
Checksum:iBC2F40E057329BF3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01173820R → P2 PublicationsCorresponds to variant dbSNP:rs140523EnsemblClinVar.1
Natural variantiVAR_074010112R → W in MYP6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370130010Ensembl.1
Natural variantiVAR_070053114R → H in MYP6; remains stable in mitochondria; reduces the level of the protein copurifying with COA6 by 80%. 2 PublicationsCorresponds to variant dbSNP:rs145100473EnsemblClinVar.1
Natural variantiVAR_074011120R → W in MYP6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375954523Ensembl.1
Natural variantiVAR_070054133C → Y in CEMCOX1. 1 PublicationCorresponds to variant dbSNP:rs28937868EnsemblClinVar.1
Natural variantiVAR_008874140E → K in CEMCOX1 and MYP6; reduced cytochrome c oxidase subunit II synthesis and reduced ability to regulate cellular copper homeostasis. 7 PublicationsCorresponds to variant dbSNP:rs74315511EnsemblClinVar.1
Natural variantiVAR_013238171R → W in CEMCOX1; renders the protein unstable. 2 PublicationsCorresponds to variant dbSNP:rs28937598EnsemblClinVar.1
Natural variantiVAR_076281193G → S in CEMCOX1 and LS. 2 PublicationsCorresponds to variant dbSNP:rs759452074Ensembl.1
Natural variantiVAR_008875225S → F in CEMCOX1. 1 PublicationCorresponds to variant dbSNP:rs80358232EnsemblClinVar.1
Natural variantiVAR_076282258M → T in LS. 1 Publication1
Natural variantiVAR_051912259A → V in MYP6. 1 PublicationCorresponds to variant dbSNP:rs8139305EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF177385 Genomic DNA Translation: AAF05313.1
AL021683 mRNA Translation: CAA16671.1
CR456569 mRNA Translation: CAG30455.1
BC102024 mRNA Translation: AAI02025.1
BC102025 mRNA Translation: AAI02026.1
CCDSiCCDS14095.1
RefSeqiNP_001162580.1, NM_001169109.1
NP_001162581.1, NM_001169110.1
NP_001162582.1, NM_001169111.1
NP_005129.2, NM_005138.2
UniGeneiHs.180903
Hs.730607

Genome annotation databases

EnsembliENST00000252785; ENSP00000252785; ENSG00000130489
ENST00000395693; ENSP00000379046; ENSG00000130489
GeneIDi9997
KEGGihsa:9997
UCSCiuc003blz.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF177385 Genomic DNA Translation: AAF05313.1
AL021683 mRNA Translation: CAA16671.1
CR456569 mRNA Translation: CAG30455.1
BC102024 mRNA Translation: AAI02025.1
BC102025 mRNA Translation: AAI02026.1
CCDSiCCDS14095.1
RefSeqiNP_001162580.1, NM_001169109.1
NP_001162581.1, NM_001169110.1
NP_001162582.1, NM_001169111.1
NP_005129.2, NM_005138.2
UniGeneiHs.180903
Hs.730607

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2RLINMR-A100-266[»]
ProteinModelPortaliO43819
SMRiO43819
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115317, 53 interactors
DIPiDIP-46088N
IntActiO43819, 27 interactors
MINTiO43819
STRINGi9606.ENSP00000252785

PTM databases

iPTMnetiO43819
PhosphoSitePlusiO43819

Polymorphism and mutation databases

BioMutaiSCO2

Proteomic databases

EPDiO43819
MaxQBiO43819
PaxDbiO43819
PeptideAtlasiO43819
PRIDEiO43819
ProteomicsDBi49182

Protocols and materials databases

DNASUi9997
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252785; ENSP00000252785; ENSG00000130489
ENST00000395693; ENSP00000379046; ENSG00000130489
GeneIDi9997
KEGGihsa:9997
UCSCiuc003blz.5 human

Organism-specific databases

CTDi9997
DisGeNETi9997
EuPathDBiHostDB:ENSG00000130489.12
GeneCardsiSCO2
HGNCiHGNC:10604 SCO2
HPAiHPA046943
HPA056254
MalaCardsiSCO2
MIMi256000 phenotype
604272 gene
604377 phenotype
608908 phenotype
neXtProtiNX_O43819
OpenTargetsiENSG00000130489
Orphaneti1561 Fatal infantile cytochrome C oxidase deficiency
70474 Leigh syndrome with cardiomyopathy
98619 Rare isolated myopia
PharmGKBiPA35013
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2792 Eukaryota
COG1999 LUCA
GeneTreeiENSGT00390000004323
HOGENOMiHOG000258140
HOVERGENiHBG000428
InParanoidiO43819
KOiK07152
OMAiQDFHPRL
OrthoDBiEOG091G0DJ5
PhylomeDBiO43819
TreeFamiTF313752

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Miscellaneous databases

EvolutionaryTraceiO43819
GeneWikiiSCO2
GenomeRNAii9997
PROiPR:O43819
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130489 Expressed in 200 organ(s), highest expression level in right uterine tube
CleanExiHS_SCO2
GenevisibleiO43819 HS

Family and domain databases

CDDicd02968 SCO, 1 hit
InterProiView protein in InterPro
IPR003782 SCO1/SenC
IPR017276 Synth_of_cyt-c-oxidase_Sco1/2
IPR036249 Thioredoxin-like_sf
IPR013766 Thioredoxin_domain
PANTHERiPTHR12151 PTHR12151, 1 hit
PfamiView protein in Pfam
PF02630 SCO1-SenC, 1 hit
PIRSFiPIRSF037736 SCO1, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit
PROSITEiView protein in PROSITE
PS51352 THIOREDOXIN_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSCO2_HUMAN
AccessioniPrimary (citable) accession number: O43819
Secondary accession number(s): Q3T1B5, Q9UK87
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: November 7, 2018
This is version 177 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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