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Protein

Protein SCO1 homolog, mitochondrial

Gene

SCO1

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

Functioni

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:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478, PubMed:15229189). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity).By similarity5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi169Copper1
Metal bindingi173Copper1
Metal bindingi260Copper1

GO - Molecular functioni

GO - Biological processi

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 SCO1 homolog, mitochondrial
Gene namesi
Name:SCO1
Synonyms:SCOD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000133028.10
HGNCiHGNC:10603 SCO1
MIMi603644 gene
neXtProtiNX_O75880

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 domaini68 – 92Mitochondrial matrix1 PublicationAdd BLAST25
Transmembranei93 – 111HelicalSequence analysisAdd BLAST19
Topological domaini112 – 301Mitochondrial intermembrane1 PublicationAdd BLAST190

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:220110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012109174P → L in MT-C4D; no effect on synthesis of cytochrome c oxidase subunit II; reduced stability of newly synthesized cytochrome c oxidase subunit II; reduced copper-binding. 4 PublicationsCorresponds to variant dbSNP:rs104894630EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi6341
MalaCardsiSCO1
MIMi220110 phenotype
OpenTargetsiENSG00000133028
Orphaneti1561 Fatal infantile cytochrome C oxidase deficiency
PharmGKBiPA35012

Polymorphism and mutation databases

BioMutaiSCO1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 67MitochondrionSequence analysisCombined sourcesAdd BLAST67
ChainiPRO_000003192168 – 301Protein SCO1 homolog, mitochondrialAdd BLAST234

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi169 ↔ 173Redox-activePROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiO75880
MaxQBiO75880
PaxDbiO75880
PeptideAtlasiO75880
PRIDEiO75880
ProteomicsDBi50236
TopDownProteomicsiO75880

PTM databases

iPTMnetiO75880
PhosphoSitePlusiO75880

Expressioni

Tissue specificityi

Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.1 Publication

Gene expression databases

BgeeiENSG00000133028 Expressed in 183 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_SCO1
ExpressionAtlasiO75880 baseline and differential
GenevisibleiO75880 HS

Organism-specific databases

HPAiHPA021565
HPA021579

Interactioni

Subunit structurei

Homodimer (PubMed:16735468, PubMed:15229189). 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:29154948, PubMed:24403053, PubMed:28330871). Interacts with COX16 (PubMed:29381136).7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
COX17Q140613EBI-6656171,EBI-711311

Protein-protein interaction databases

BioGridi112245, 17 interactors
DIPiDIP-46086N
IntActiO75880, 113 interactors
MINTiO75880
STRINGi9606.ENSP00000255390

Structurei

Secondary structure

1301
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75880
SMRiO75880
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75880

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni118 – 131Important for dimerizationAdd BLAST14

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
InParanoidiO75880
KOiK07152
OMAiGPVTWKS
OrthoDBiEOG091G0DJ5
PhylomeDBiO75880
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
PANTHERiPTHR12151 PTHR12151, 1 hit
PfamiView protein in Pfam
PF02630 SCO1-SenC, 1 hit
PIRSFiPIRSF037736 SCO1, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O75880-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAMLVLVPGR VMRPLGGQLW RFLPRGLEFW GPAEGTARVL LRQFCARQAE
60 70 80 90 100
AWRASGRPGY CLGTRPLSTA RPPPPWSQKG PGDSTRPSKP GPVSWKSLAI
110 120 130 140 150
TFAIGGALLA GMKHVKKEKA EKLEKERQRH IGKPLLGGPF SLTTHTGERK
160 170 180 190 200
TDKDYLGQWL LIYFGFTHCP DVCPEELEKM IQVVDEIDSI TTLPDLTPLF
210 220 230 240 250
ISIDPERDTK EAIANYVKEF SPKLVGLTGT REEVDQVARA YRVYYSPGPK
260 270 280 290 300
DEDEDYIVDH TIIMYLIGPD GEFLDYFGQN KRKGEIAASI ATHMRPYRKK

S
Length:301
Mass (Da):33,814
Last modified:November 1, 1998 - v1
Checksum:iC4A0F35A1741894F
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QL56J3QL56_HUMAN
Protein SCO1 homolog, mitochondrial
SCO1
270Annotation score:
J3QR42J3QR42_HUMAN
Protein SCO1 homolog, mitochondrial
SCO1
91Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01453758P → S. Corresponds to variant dbSNP:rs1802083EnsemblClinVar.1
Natural variantiVAR_012109174P → L in MT-C4D; no effect on synthesis of cytochrome c oxidase subunit II; reduced stability of newly synthesized cytochrome c oxidase subunit II; reduced copper-binding. 4 PublicationsCorresponds to variant dbSNP:rs104894630EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026852 mRNA Translation: AAD08641.1
AF295386
, AF295381, AF295382, AF295383, AF295384, AF295385 Genomic DNA Translation: AAG23836.1
AF183424 mRNA Translation: AAG09693.1
AK315595 mRNA Translation: BAG37967.1
CH471108 Genomic DNA Translation: EAW89997.1
BC015504 mRNA Translation: AAH15504.1
AF131816 mRNA Translation: AAD20051.1
CCDSiCCDS11158.1
RefSeqiNP_004580.1, NM_004589.3
XP_005256808.1, XM_005256751.3
UniGeneiHs.14511
Hs.586955

Genome annotation databases

EnsembliENST00000255390; ENSP00000255390; ENSG00000133028
GeneIDi6341
KEGGihsa:6341
UCSCiuc002gmr.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026852 mRNA Translation: AAD08641.1
AF295386
, AF295381, AF295382, AF295383, AF295384, AF295385 Genomic DNA Translation: AAG23836.1
AF183424 mRNA Translation: AAG09693.1
AK315595 mRNA Translation: BAG37967.1
CH471108 Genomic DNA Translation: EAW89997.1
BC015504 mRNA Translation: AAH15504.1
AF131816 mRNA Translation: AAD20051.1
CCDSiCCDS11158.1
RefSeqiNP_004580.1, NM_004589.3
XP_005256808.1, XM_005256751.3
UniGeneiHs.14511
Hs.586955

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WP0X-ray2.80A/B/C138-301[»]
2GGTX-ray2.40A/B135-298[»]
2GQKNMR-A132-301[»]
2GQLNMR-A132-301[»]
2GQMNMR-A132-301[»]
2GT5NMR-A132-301[»]
2GT6NMR-A132-301[»]
2GVPNMR-A132-301[»]
2HRFNMR-A132-301[»]
2HRNNMR-A132-301[»]
ProteinModelPortaliO75880
SMRiO75880
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112245, 17 interactors
DIPiDIP-46086N
IntActiO75880, 113 interactors
MINTiO75880
STRINGi9606.ENSP00000255390

PTM databases

iPTMnetiO75880
PhosphoSitePlusiO75880

Polymorphism and mutation databases

BioMutaiSCO1

Proteomic databases

EPDiO75880
MaxQBiO75880
PaxDbiO75880
PeptideAtlasiO75880
PRIDEiO75880
ProteomicsDBi50236
TopDownProteomicsiO75880

Protocols and materials databases

DNASUi6341
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255390; ENSP00000255390; ENSG00000133028
GeneIDi6341
KEGGihsa:6341
UCSCiuc002gmr.5 human

Organism-specific databases

CTDi6341
DisGeNETi6341
EuPathDBiHostDB:ENSG00000133028.10
GeneCardsiSCO1
HGNCiHGNC:10603 SCO1
HPAiHPA021565
HPA021579
MalaCardsiSCO1
MIMi220110 phenotype
603644 gene
neXtProtiNX_O75880
OpenTargetsiENSG00000133028
Orphaneti1561 Fatal infantile cytochrome C oxidase deficiency
PharmGKBiPA35012
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2792 Eukaryota
COG1999 LUCA
GeneTreeiENSGT00390000004323
HOGENOMiHOG000258140
HOVERGENiHBG000428
InParanoidiO75880
KOiK07152
OMAiGPVTWKS
OrthoDBiEOG091G0DJ5
PhylomeDBiO75880
TreeFamiTF313752

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiSCO1 human
EvolutionaryTraceiO75880
GeneWikiiSCO1
GenomeRNAii6341
PROiPR:O75880
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133028 Expressed in 183 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_SCO1
ExpressionAtlasiO75880 baseline and differential
GenevisibleiO75880 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
PANTHERiPTHR12151 PTHR12151, 1 hit
PfamiView protein in Pfam
PF02630 SCO1-SenC, 1 hit
PIRSFiPIRSF037736 SCO1, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSCO1_HUMAN
AccessioniPrimary (citable) accession number: O75880
Secondary accession number(s): B2RDM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 173 of the entry and version 1 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 17
    Human chromosome 17: 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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