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Protein

Protein SCO1 homolog, mitochondrial

Gene

SCO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX.3 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.

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

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D)2 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. 2 PublicationsCorresponds to variant dbSNP:rs104894630Ensembl.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
ChainiPRO_0000031921? – 301Protein SCO1 homolog, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Proteomic databases

EPDiO75880.
MaxQBiO75880.
PaxDbiO75880.
PeptideAtlasiO75880.
PRIDEiO75880.
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.
CleanExiHS_SCO1.
ExpressionAtlasiO75880. baseline and differential.
GenevisibleiO75880. HS.

Organism-specific databases

HPAiHPA021565.
HPA021579.

Interactioni

Subunit structurei

Homodimer (PubMed:16735468). Interacts with COA6 (PubMed:26160915).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
COX17Q140612EBI-6656171,EBI-711311

Protein-protein interaction databases

BioGridi112245. 13 interactors.
DIPiDIP-46086N.
IntActiO75880. 6 interactors.
STRINGi9606.ENSP00000255390.

Structurei

Secondary structure

1301
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi141 – 144Combined sources4
Beta strandi149 – 151Combined sources3
Helixi152 – 155Combined sources4
Beta strandi159 – 165Combined sources7
Helixi172 – 189Combined sources18
Beta strandi190 – 193Combined sources4
Beta strandi196 – 203Combined sources8
Turni205 – 207Combined sources3
Helixi210 – 218Combined sources9
Beta strandi225 – 228Combined sources4
Helixi231 – 239Combined sources9
Turni240 – 242Combined sources3
Beta strandi245 – 250Combined sources6
Helixi252 – 254Combined sources3
Beta strandi256 – 260Combined sources5
Beta strandi263 – 267Combined sources5
Helixi269 – 271Combined sources3
Beta strandi273 – 278Combined sources6
Helixi283 – 294Combined sources12
Helixi295 – 297Combined sources3

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...

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

Phylogenomic databases

eggNOGiKOG2792. Eukaryota.
COG1999. LUCA.
GeneTreeiENSGT00390000004323.
HOGENOMiHOG000258140.
HOVERGENiHBG000428.
InParanoidiO75880.
KOiK07152.
OMAiTHTGEPK.
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.

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01453758P → S. Corresponds to variant dbSNP:rs1802083Ensembl.1
Natural variantiVAR_012109174P → L in MT-C4D. 2 PublicationsCorresponds to variant dbSNP:rs104894630Ensembl.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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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: October 25, 2017
This is version 164 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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families