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Protein

Protein SCO2 homolog, mitochondrial

Gene

SCO2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi133Copper1 Publication1
Metal bindingi137Copper1 Publication1
Metal bindingi224Copper1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone
LigandCopper, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein SCO2 homolog, mitochondrial
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SCO2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000130489.12

Human Gene Nomenclature Database

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HGNCi
HGNC:10604 SCO2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604272 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43819

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini42 – 60Mitochondrial matrix1 PublicationAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei61 – 78HelicalSequence analysisAdd BLAST18
Topological domaini79 – 266Mitochondrial intermembrane1 PublicationAdd BLAST188

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
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_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_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_076281193G → S in CEMCOX1 and LS. 2 PublicationsCorresponds to variant dbSNP:rs759452074Ensembl.1
Natural variantiVAR_076282258M → T in LS. 1 PublicationCorresponds to variant dbSNP:rs1352878283Ensembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNET

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DisGeNETi
9997

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SCO2

MalaCards human disease database

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MalaCardsi
SCO2
MIMi256000 phenotype
604377 phenotype
608908 phenotype

Open Targets

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OpenTargetsi
ENSG00000130489

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1561 Fatal infantile cytochrome C oxidase deficiency
70474 Leigh syndrome with cardiomyopathy
98619 Rare isolated myopia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35013

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SCO2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 41MitochondrionSequence analysisAdd BLAST41
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003192242 – 266Protein SCO2 homolog, mitochondrialAdd BLAST225

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi133 ↔ 137Redox-activePROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O43819

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43819

MaxQB - The MaxQuant DataBase

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MaxQBi
O43819

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O43819

PeptideAtlas

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PeptideAtlasi
O43819

PRoteomics IDEntifications database

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PRIDEi
O43819

ProteomicsDB human proteome resource

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ProteomicsDBi
49182

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43819

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O43819

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000130489 Expressed in 200 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

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CleanExi
HS_SCO2

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43819 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA046943
HPA056254

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115317, 57 interactors

Database of interacting proteins

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DIPi
DIP-46088N

Protein interaction database and analysis system

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IntActi
O43819, 27 interactors

Molecular INTeraction database

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MINTi
O43819

STRING: functional protein association networks

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STRINGi
9606.ENSP00000252785

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2RLINMR-A100-266[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43819

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43819

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O43819

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini85 – 259ThioredoxinPROSITE-ProRule annotationAdd BLAST175

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SCO1/2 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2792 Eukaryota
COG1999 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000004323

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000258140

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000428

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43819

KEGG Orthology (KO)

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KOi
K07152

Identification of Orthologs from Complete Genome Data

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OMAi
QDFHPRL

Database of Orthologous Groups

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OrthoDBi
1462537at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43819

TreeFam database of animal gene trees

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TreeFami
TF313752

Family and domain databases

Conserved Domains Database

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CDDi
cd02968 SCO, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003782 SCO1/SenC
IPR017276 Synth_of_cyt-c-oxidase_Sco1/2
IPR036249 Thioredoxin-like_sf
IPR013766 Thioredoxin_domain

The PANTHER Classification System

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PANTHERi
PTHR12151 PTHR12151, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02630 SCO1-SenC, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037736 SCO1, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52833 SSF52833, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51352 THIOREDOXIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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 PublicationCorresponds to variant dbSNP:rs1352878283Ensembl.1
Natural variantiVAR_051912259A → V in MYP6. 1 PublicationCorresponds to variant dbSNP:rs8139305EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS14095.1

NCBI Reference Sequences

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RefSeqi
NP_001162580.1, NM_001169109.1
NP_001162581.1, NM_001169110.1
NP_001162582.1, NM_001169111.1
NP_005129.2, NM_005138.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.180903
Hs.730607

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000252785; ENSP00000252785; ENSG00000130489
ENST00000395693; ENSP00000379046; ENSG00000130489

Database of genes from NCBI RefSeq genomes

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GeneIDi
9997

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9997

UCSC genome browser

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UCSCi
uc003blz.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 57 interactors
DIPiDIP-46088N
IntActiO43819, 27 interactors
MINTiO43819
STRINGi9606.ENSP00000252785

PTM databases

iPTMnetiO43819
PhosphoSitePlusiO43819

Polymorphism and mutation databases

BioMutaiSCO2

Proteomic databases

EPDiO43819
jPOSTiO43819
MaxQBiO43819
PaxDbiO43819
PeptideAtlasiO43819
PRIDEiO43819
ProteomicsDBi49182

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9997
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9997
DisGeNETi9997
EuPathDBiHostDB:ENSG00000130489.12

GeneCards: human genes, protein and diseases

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GeneCardsi
SCO2
GeneReviewsiSCO2
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2792 Eukaryota
COG1999 LUCA
GeneTreeiENSGT00390000004323
HOGENOMiHOG000258140
HOVERGENiHBG000428
InParanoidiO43819
KOiK07152
OMAiQDFHPRL
OrthoDBi1462537at2759
PhylomeDBiO43819
TreeFamiTF313752

Enzyme and pathway databases

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

Miscellaneous databases

EvolutionaryTraceiO43819

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SCO2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9997

Protein Ontology

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PROi
PR:O43819

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCO2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43819
Secondary accession number(s): Q3T1B5, Q9UK87
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: January 16, 2019
This is version 179 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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