Protein SCO1 homolog, mitochondrial
Details
- Name
- Protein SCO1 homolog, mitochondrial
- Kind
- protein
- Synonyms
- SCOD1
- Gene Name
- SCO1
- UniProtKB Entry
- O75880Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- Amino acid sequence
>lcl|BSEQ0020900|Protein SCO1 homolog, mitochondrial MAMLVLVPGRVMRPLGGQLWRFLPRGLEFWGPAEGTARVLLRQFCARQAEAWRASGRPGY CLGTRPLSTARPPPPWSQKGPGDSTRPSKPGPVSWKSLAITFAIGGALLAGMKHVKKEKA EKLEKERQRHIGKPLLGGPFSLTTHTGERKTDKDYLGQWLLIYFGFTHCPDVCPEELEKM IQVVDEIDSITTLPDLTPLFISIDPERDTKEAIANYVKEFSPKLVGLTGTREEVDQVARA YRVYYSPGPKDEDEDYIVDHTIIMYLIGPDGEFLDYFGQNKRKGEIAASIATHMRPYRKK S
- Number of residues
- 301
- Molecular Weight
- 33813.69
- Theoretical pI
- Not Available
- GO Classification
- Functionscopper ion bindingComponentsmitochondrial inner membrane / mitochondrion / myofibril
- General Function
- 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:15229189, PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity)
- Specific Function
- copper chaperone activity
- Pfam Domain Function
- SCO1-SenC (PF02630)
- Signal Regions
- Not Available
- Transmembrane Regions
- 93-111
- Cellular Location
- Mitochondrion
- Gene sequence
>lcl|BSEQ0020901|Protein SCO1 homolog, mitochondrial (SCO1) ATGGCGATGCTGGTCCTAGTACCCGGACGAGTTATGCGGCCTCTGGGTGGCCAACTTTGG CGCTTCTTGCCTCGCGGACTCGAGTTTTGGGGCCCAGCCGAGGGGACTGCGAGAGTCTTG CTGAGGCAGTTCTGCGCGCGGCAAGCGGAGGCGTGGCGTGCCTCGGGGCGCCCTGGCTAT TGCCTGGGAACCCGGCCCCTCAGCACTGCGAGGCCGCCACCCCCGTGGTCGCAGAAGGGC CCCGGAGACTCCACGCGCCCCTCGAAGCCCGGGCCTGTTTCCTGGAAGTCTTTAGCAATC ACATTTGCTATTGGAGGAGCTTTACTGGCTGGAATGAAGCACGTCAAGAAAGAAAAGGCA GAGAAGTTAGAGAAGGAACGGCAGCGACACATCGGCAAGCCTTTACTTGGGGGACCGTTT TCCCTCACAACTCATACTGGGGAGCGTAAAACTGACAAGGACTACTTGGGTCAGTGGTTA TTGATTTATTTTGGCTTCACTCATTGCCCTGATGTCTGTCCAGAAGAACTAGAAAAGATG ATTCAAGTCGTGGATGAAATAGATAGCATTACAACTCTGCCAGATCTAACTCCACTTTTC ATCAGCATTGACCCAGAGAGGGACACAAAAGAAGCCATCGCAAATTATGTGAAAGAATTT TCTCCCAAACTGGTTGGCTTGACTGGCACGAGAGAAGAGGTCGATCAAGTGGCCAGAGCA TACAGAGTGTATTACAGCCCTGGCCCCAAGGACGAAGATGAAGACTACATAGTGGATCAC ACAATAATAATGTACTTGATTGGACCAGATGGTGAGTTTCTAGATTATTTTGGCCAGAAC AAGAGGAAGGGAGAAATAGCTGCTTCAATTGCCACACACATGAGGCCATACAGAAAAAAG AGCTAG
- Chromosome Location
- 17
- Locus
- 17p13.1
- External Identifiers
Resource Link UniProtKB ID O75880 UniProtKB Entry Name SCO1_HUMAN GeneCard ID SCO1 HGNC ID HGNC:10603 PDB ID(s) 1WP0, 2GGT, 2GQK, 2GQL, 2GQM, 2GT5, 2GT6, 2GVP, 2HRF, 2HRN KEGG ID hsa:6341 NCBI Gene ID 6341 - General References
- Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M: 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. Genomics. 1998 Dec 15;54(3):494-504. [Article]
- Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M: Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochem Biophys Res Commun. 2000 Sep 24;276(2):530-3. [Article]
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- Leary SC, Cobine PA, Kaufman BA, Guercin GH, Mattman A, Palaty J, Lockitch G, Winge DR, Rustin P, Horvath R, Shoubridge EA: The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. Cell Metab. 2007 Jan;5(1):9-20. [Article]
- Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
- Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
- Williams JC, Sue C, Banting GS, Yang H, Glerum DM, Hendrickson WA, Schon EA: Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein. J Biol Chem. 2005 Apr 15;280(15):15202-11. Epub 2005 Jan 19. [Article]
- Banci L, Bertini I, Calderone V, Ciofi-Baffoni S, Mangani S, Martinelli M, Palumaa P, Wang S: A hint for the function of human Sco1 from different structures. Proc Natl Acad Sci U S A. 2006 Jun 6;103(23):8595-600. Epub 2006 May 30. [Article]
- Shoubridge EA: Cytochrome c oxidase deficiency. Am J Med Genet. 2001 Spring;106(1):46-52. [Article]
- Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A: Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet. 2000 Nov;67(5):1104-9. Epub 2000 Sep 28. [Article]