SCO2

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SCO2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSCO2, CEMCOX1, MYP6, SCO1L, SCO2 cytochrome c oxidase assembly protein, cytochrome c oxidase assembly protein, PD-ECGF, TP, Gliostatin, TYMP, ECGF1, TdRPase, SCO cytochrome c oxidase assembly protein 2, synthesis of cytochrome C oxidase 2, MC4DN2
External IDsOMIM: 604272 MGI: 3818630 HomoloGene: 68444 GeneCards: SCO2
Orthologs
SpeciesHumanMouse
Entrez

9997

100126824

Ensembl

ENSG00000284194

ENSMUSG00000091780

UniProt

O43819

Q8VCL2

RefSeq (mRNA)

NM_005138
NM_001169109
NM_001169110
NM_001169111

NM_001111288

RefSeq (protein)

NP_001162580
NP_001162581
NP_001162582
NP_005129

NP_001104758

Location (UCSC)Chr 22: 50.52 – 50.53 MbChr 15: 89.26 – 89.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SCO2 cytochrome c oxidase assembly (also known as SCO2 homolog, mitochondrial and SCO cytochrome oxidase deficient homolog 2) is a protein that in humans is encoded by the SCO2 gene.[5][6][7]

Function

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog of the yeast SCO2 gene.[7]

Mutations in this gene that alter the regulation of copper and oxygen levels are associated with a severe COX deficiency in striated muscle, an early onset fatal cardiac encephalomyopathy,[8] and a severe form of nearsightedness.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000284194 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000091780 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Paret C, Ostermann K, Krause-Buchholz U, Rentzsch A, Rödel G (Mar 1999). "Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization". FEBS Letters. 447 (1): 65–70. doi:10.1016/S0014-5793(99)00266-5. PMID 10218584.
  6. ^ Horng YC, Leary SC, Cobine PA, Young FB, George GN, Shoubridge EA, Winge DR (Oct 2005). "Human Sco1 and Sco2 function as copper-binding proteins". The Journal of Biological Chemistry. 280 (40): 34113–22. doi:10.1074/jbc.M506801200. PMID 16091356.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ a b "Entrez Gene: SCO2 SCO2 cytochrome c oxidase assembly protein [ Homo sapiens (human) ]".
  8. ^ Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H (Dec 2001). "Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts". Human Molecular Genetics. 10 (26): 3025–35. doi:10.1093/hmg/10.26.3025. PMID 11751685.

Further reading

  • Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA (Nov 1999). "Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene". Nature Genetics. 23 (3): 333–7. doi:10.1038/15513. PMID 10545952.
  • Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA (Mar 2000). "Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency". Human Molecular Genetics. 9 (5): 795–801. doi:10.1093/hmg/9.5.795. PMID 10749987.
  • Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P (Oct 2001). "Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy". Neurology. 57 (8): 1440–6. doi:10.1212/wnl.57.8.1440. PMID 11673586.
  • Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H (Dec 2001). "Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts". Human Molecular Genetics. 10 (26): 3025–35. doi:10.1093/hmg/10.26.3025. PMID 11751685.
  • Salviati L, Hernandez-Rosa E, Walker WF, Sacconi S, DiMauro S, Schon EA, Davidson MM (Apr 2002). "Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations". The Biochemical Journal. 363 (Pt 2): 321–7. doi:10.1042/0264-6021:3630321. PMC 1222481. PMID 11931660.
  • Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S (May 2002). "Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease". Archives of Neurology. 59 (5): 862–5. doi:10.1001/archneur.59.5.862. PMID 12020273.
  • Collins JE, Goward ME, Cole CG, Smink LJ, Huckle EJ, Knowles S, Bye JM, Beare DM, Dunham I (Jan 2003). "Reevaluating human gene annotation: a second-generation analysis of chromosome 22". Genome Research. 13 (1): 27–36. doi:10.1101/gr.695703. PMC 430954. PMID 12529303.
  • Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S (Feb 2003). "Mutation screening in patients with isolated cytochrome c oxidase deficiency". Pediatric Research. 53 (2): 224–30. doi:10.1203/01.PDR.0000048100.91730.6A. PMID 12538779.
  • Tarnopolsky MA, Bourgeois JM, Fu MH, Kataeva G, Shah J, Simon DK, Mahoney D, Johns D, MacKay N, Robinson BH (Mar 2004). "Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype". American Journal of Medical Genetics Part A. 125A (3): 310–4. doi:10.1002/ajmg.a.20466. PMID 14994243.
  • Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
  • Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA (Sep 2004). "Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase". Human Molecular Genetics. 13 (17): 1839–48. doi:10.1093/hmg/ddh197. PMID 15229189.
  • Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  • Stiburek L, Vesela K, Hansikova H, Pecina P, Tesarova M, Cerna L, Houstek J, Zeman J (Dec 2005). "Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1". The Biochemical Journal. 392 (Pt 3): 625–32. doi:10.1042/BJ20050807. PMC 1316303. PMID 16083427.
  • Matoba S, Kang JG, Patino WD, Wragg A, Boehm M, Gavrilova O, Hurley PJ, Bunz F, Hwang PM (Jun 2006). "p53 regulates mitochondrial respiration". Science. 312 (5780): 1650–3. doi:10.1126/science.1126863. PMID 16728594.
  • Leary SC, Cobine PA, Kaufman BA, Guercin GH, Mattman A, Palaty J, Lockitch G, Winge DR, Rustin P, Horvath R, Shoubridge EA (Jan 2007). "The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis". Cell Metabolism. 5 (1): 9–20. doi:10.1016/j.cmet.2006.12.001. PMID 17189203.
  • Banci L, Bertini I, Ciofi-Baffoni S, Gerothanassis IP, Leontari I, Martinelli M, Wang S (Sep 2007). "A structural characterization of human SCO2". Structure. 15 (9): 1132–40. doi:10.1016/j.str.2007.07.011. PMID 17850752.

External links

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