P-POD: Princeton Protein Orthology Database: GO3/Nens1868

This family has 15 members: 1 Arabidopsis thaliana, 1 Caenorhabditis elegans, 2 Danio rerio, 1 Dictyostelium discoideum, 1 Drosophila melanogaster, 1 Gallus gallus, 2 Homo sapiens, 2 Mus musculus, 1 Rattus norvegicus, 2 Saccharomyces cerevisiae, 1 Schizosaccharomyces pombe.

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GO3/Nens1868
15 members.
OrganismProtein (Synonyms)DescriptionAmiGO
A. thalianaNCBI:NP_566339.1 · TAIR:locus:2097673 (AT3G08950 · T16O11.9)⌘
C. elegansWB:WBGene00015297 (C01F1.2) · UniProtKB:Q17557⌘
D. rerioENSEMBL:ENSDARP00000088082
D. rerioUniProtKB:Q5RH02 · ZFIN:ZDB-GENE-041210-173 (sco2)SCO cytochrome oxidase deficient homolog 2 (yeast)⌘
D. discoideumUniProtKB:Q54TT7 · dictyBase:DDB_G0281505
D. melanogasterUniProtKB:Q9VMX4 · FB:FBgn0031656 (CG8885 · scox)Sco1 protein homolog⌘
G. gallusNCBI:XP_423738 · ENTREZ:426060
H. sapiensENSEMBL:ENSG00000133028 · UniProtKB:O75880 (SCOD1 · O75880 · SCO1 · IPI00027233 · SCO1_HUMAN)Protein SCO1 homolog, mitochondrial⌘
H. sapiensENSEMBL:ENSG00000130489 · UniProtKB:O43819 (SCO2_HUMAN · O43819 · IPI00014458 · SCO2)Protein SCO2 homolog, mitochondrial⌘
M. musculusUniProtKB:Q5SUC9 · MGI:MGI:106362 (Sco1 · D11Bwg1310e)SCO cytochrome oxidase deficient homolog 1 (yeast)⌘
M. musculusUniProtKB:Q8VCL2 · MGI:MGI:3818630 (Sco2)SCO cytochrome oxidase deficient homolog 2 (yeast)⌘
R. norvegicusNCBI:XP_573117 · RGD:1559538 (Sco1)SCO cytochrome oxidase deficient homolog 1 (yeast)⌘
S. cerevisiaeUniProtKB:P23833 · SGD:S000000241 (YBR037C · SCO1 · PET161)Copper-binding protein of the mitochondrial inner membrane, required for cytochrome c oxidase activity and respiration⌘
S. cerevisiaeUniProtKB:P38072 · SGD:S000000228 (YBR024W · SCO2)Protein anchored to the mitochondrial inner membrane, similar to Sco1p and may have a redundant function with Sco1p in delivery of copper to cytochrome c oxidase⌘
S. pombeUniProtKB:O42899 · GeneDB_Spombe:SPBC119.06 (SPBC119.06 · sco1)copper chaperone Sco1⌘
ProteinPublicationCurator Notes
UniProtKB:P23833 · SGD:S000000241PMID:11118289 Paret C, et al. The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun. 2000 Dec 20;279(2):341-7.The S. cerevisiae/H. sapiens protein SCO1/O75880 complements a homologous mutation in S. cerevisiae. The authors used chimeric proteins with the amino-terminal portion from yeast Sco1p and carboxy-terminal portion from the human hSco1p (O75880). These chimeras are able to complement yeast sco1 null mutants.
UniProtKB:P23833 · SGD:S000000241PMID:17430883 Khalimonchuk O, et al. Evidence for a pro-oxidant intermediate in the assembly of cytochrome oxidase. J Biol Chem. 2007 Jun 15;282(24):17442-9.The H. sapiens protein SCO1 complements a homologous mutation in S. cerevisiae.
UniProtKB:P23833 · SGD:S000000241PMID:11118289 Paret C, et al. The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun. 2000 Dec 20;279(2):341-7.The S. cerevisiae/H. sapiens protein SCO1/ENSP00000255390 complements a homologous mutation in S. cerevisiae.
UniProtKB:P23833 · SGD:S000000241PMID:11118289 Paret C, et al. The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun. 2000 Dec 20;279(2):341-7.The S. cerevisiae/H. sapiens protein SCO1/ENSP00000255390 complements a homologous mutation in S. cerevisiae.
DescriptionSuffix
Sequences in this family.fasta
mafft aligned Fasta file.afasta
phyml newick file.newick
Notung rooted & rearranged newick file.newick.rooting.0.rearrange.0
Notung Homolog Table.newick.rooting.0.rearrange.0.homologs.csv
OMIM (3)
ENSEMBL:ENSG00000130489 · UniProtKB:O43819#220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY;;CYTOCHROME c OXIDASE DEFICIENCY;;COX DEFICIENCY
UniProtKB:P23833 · SGD:S000000241#604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY;;CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY
#220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY;;CYTOCHROME c OXIDASE DEFICIENCY;;COX DEFICIENCY
SGD Disease Papers (8)
UniProtKB:P38072 · SGD:S000000228PMID:15659396 Williams JC, et al. (2005) Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein. J Biol Chem 280(15):15202-11
PMID:12134146 Steinmetz LM, et al. (2002) Systematic screen for human disease genes in yeast. Nat Genet 31(4):400-4
PMID:11579424 Shoubridge EA (2001) Cytochrome c oxidase deficiency. Am J Med Genet 106(1):46-52
PMID:11118289 Paret C, et al. (2000) The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun 279(2):341-7
PMID:11044474 Robinson BH (2000) Human cytochrome oxidase deficiency. Pediatr Res 48(5):581-5
PMID:10854440 Dickinson EK, et al. (2000) A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway. J Biol Chem 275(35):26780-5
UniProtKB:P38072 · SGD:S000000228PMID:11579424 Shoubridge EA (2001) Cytochrome c oxidase deficiency. Am J Med Genet 106(1):46-52
PMID:10749987 Jaksch M, et al. (2000) Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet 9(5):795-801
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