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O75880 (SCO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein SCO1 homolog, mitochondrial
Gene names
Name:SCO1
Synonyms:SCOD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length301 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX. Ref.8 Ref.10 Ref.11

Subunit structure

Homodimer. Ref.11

Subcellular location

Mitochondrion Ref.1.

Tissue specificity

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

Involvement in disease

Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.13

Sequence similarities

Belongs to the SCO1/2 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential
Chain? – 301Protein SCO1 homolog, mitochondrialPRO_0000031921

Regions

Region118 – 13114Important for dimerization

Sites

Metal binding1691Copper
Metal binding1731Copper
Metal binding2601Copper

Natural variations

Natural variant581P → S.
Corresponds to variant rs1802083 [ dbSNP | Ensembl ].
VAR_014537
Natural variant1741P → L in MT-C4D. Ref.8 Ref.13
VAR_012109

Secondary structure

..................................... 301
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
O75880 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: C4A0F35A1741894F

FASTA30133,814
        10         20         30         40         50         60 
MAMLVLVPGR VMRPLGGQLW RFLPRGLEFW GPAEGTARVL LRQFCARQAE AWRASGRPGY 

        70         80         90        100        110        120 
CLGTRPLSTA RPPPPWSQKG PGDSTRPSKP GPVSWKSLAI TFAIGGALLA GMKHVKKEKA 

       130        140        150        160        170        180 
EKLEKERQRH IGKPLLGGPF SLTTHTGERK TDKDYLGQWL LIYFGFTHCP DVCPEELEKM 

       190        200        210        220        230        240 
IQVVDEIDSI TTLPDLTPLF ISIDPERDTK EAIANYVKEF SPKLVGLTGT REEVDQVARA 

       250        260        270        280        290        300 
YRVYYSPGPK DEDEDYIVDH TIIMYLIGPD GEFLDYFGQN KRKGEIAASI ATHMRPYRKK 


S 

« Hide

References

« Hide 'large scale' references
[1]"Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain."
Petruzzella V., Tiranti V., Fernandez P., Ianna P., Carrozzo R., Zeviani M.
Genomics 54:494-504(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]"Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency."
Horvath R., Lochmuller H., Stucka R., Yao J., Shoubridge E.A., Kim S.-H., Gerbitz K.-D., Jaksch M.
Biochem. Biophys. Res. Commun. 276:530-533(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"A novel gene expressed in human adrenal gland."
Peng Y., Li Y., Tu Y., Xu S., Han Z., Fu G., Chen Z.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Adrenal gland.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Uterus.
[7]Mei G., Yu W., Gibbs R.A.
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 112-301.
Tissue: Brain.
[8]"The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis."
Leary S.C., Cobine P.A., Kaufman B.A., Guercin G.H., Mattman A., Palaty J., Lockitch G., Winge D.R., Rustin P., Horvath R., Shoubridge E.A.
Cell Metab. 5:9-20(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CHARACTERIZATION OF VARIANT MT-C4D LEU-174.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase 'assembly' protein."
Williams J.C., Sue C., Banting G.S., Yang H., Glerum D.M., Hendrickson W.A., Schon E.A.
J. Biol. Chem. 280:15202-15211(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 138-301, FUNCTION.
[11]"A hint for the function of human Sco1 from different structures."
Banci L., Bertini I., Calderone V., Ciofi-Baffoni S., Mangani S., Martinelli M., Palumaa P., Wang S.
Proc. Natl. Acad. Sci. U.S.A. 103:8595-8600(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 132-301 IN COMPLEX WITH METAL IONS, FUNCTION, SUBUNIT, IDENTIFICATION BY MASS SPECTROMETRY.
[12]"Cytochrome c oxidase deficiency."
Shoubridge E.A.
Am. J. Med. Genet. 106:46-52(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON MT-C4D.
[13]"Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy."
Valnot I., Osmond S., Gigarel N., Mehaye B., Amiel J., Cormier-Daire V., Munnich A., Bonnefont J.-P., Rustin P., Rotig A.
Am. J. Hum. Genet. 67:1104-1109(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MT-C4D LEU-174.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF026852 mRNA. Translation: AAD08641.1.
AF295386 expand/collapse EMBL AC list , 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.
CCDSCCDS11158.1.
RefSeqNP_004580.1. NM_004589.3.
XP_005256808.1. XM_005256751.2.
UniGeneHs.14511.

3D structure databases

PDBe
RCSB-PDB
PDBj
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[»]
ProteinModelPortalO75880.
SMRO75880. Positions 135-298.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112245. 1 interaction.
DIPDIP-46086N.
IntActO75880. 1 interaction.
STRING9606.ENSP00000255390.

PTM databases

PhosphoSiteO75880.

Proteomic databases

MaxQBO75880.
PaxDbO75880.
PRIDEO75880.

Protocols and materials databases

DNASU6341.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000255390; ENSP00000255390; ENSG00000133028.
GeneID6341.
KEGGhsa:6341.
UCSCuc002gmr.4. human.

Organism-specific databases

CTD6341.
GeneCardsGC17M010583.
HGNCHGNC:10603. SCO1.
HPAHPA021565.
HPA021579.
MIM220110. phenotype.
603644. gene.
neXtProtNX_O75880.
Orphanet1561. Fatal infantile cytochrome C oxidase deficiency.
PharmGKBPA35012.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1999.
HOGENOMHOG000258140.
HOVERGENHBG000428.
InParanoidO75880.
KOK07152.
OMANDFVECI.
OrthoDBEOG7W41C7.
PhylomeDBO75880.
TreeFamTF313752.

Gene expression databases

ArrayExpressO75880.
BgeeO75880.
CleanExHS_SCO1.
GenevestigatorO75880.

Family and domain databases

Gene3D3.40.30.10. 1 hit.
InterProIPR003782. SCO1/SenC.
IPR017276. Synth_of_cyt-c-oxidase_Sco1/2.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERPTHR12151. PTHR12151. 1 hit.
PfamPF02630. SCO1-SenC. 1 hit.
[Graphical view]
PIRSFPIRSF037736. SCO1. 1 hit.
SUPFAMSSF52833. SSF52833. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceO75880.
GeneWikiSCO1.
GenomeRNAi6341.
NextBio24624.
PROO75880.
SOURCESearch...

Entry information

Entry nameSCO1_HUMAN
AccessionPrimary (citable) accession number: O75880
Secondary accession number(s): B2RDM0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: July 9, 2014
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM