Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4427099 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1775523 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4827907 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_014186_16 |
|
Specimen Label: |
euxassay_014186_16 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4427099 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1775523 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4827907 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_014186_17 |
|
Specimen Label: |
euxassay_014186_17 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4427099 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1775523 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4827907 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_014186_18 |
|
Specimen Label: |
euxassay_014186_18 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:2845728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
|
Specimen Label: |
Kidney |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Very strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:2824528 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
Note: |
The intense staining in the glomeruli is presumed to be in the capillaries. |
Specimen Label: |
Kidney |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:3598828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
Note: |
Staining is generally uniform in the "bulk" tissue. |
Specimen Label: |
Muscle |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610528 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
Note: |
Staining is generally uniform in the "bulk" tissue. |
Specimen Label: |
Heart |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274328 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
|
Specimen Label: |
Muscle |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1684628 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
Note: |
Staining is generally uniform in the "bulk" tissue. |
Specimen Label: |
Liver |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:360354 |
Pattern: |
Widespread |
Stage: |
TS04 |
Assay Id: |
MGI:4948532 |
Age: |
embryonic day 3.5 |
|
|
Specimen Label: |
5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1736528 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
|
Specimen Label: |
Liver |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3539728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948532 |
Age: |
postnatal |
|
|
Specimen Label: |
Heart |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3513428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948541 |
Age: |
postnatal |
|
Note: |
Staining is somewhat higher in the endothelial cells compared to smooth muscle. |
Specimen Label: |
Not shown |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4948529 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2011-04-28 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:4948541 |
Age: |
postnatal |
|
Note: |
Staining is generally uniform in the "bulk" tissue. |
Specimen Label: |
Brain |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xie L |
Year: |
2022 |
Journal: |
Cell Rep |
Title: |
Downregulation of hepatic ceruloplasmin ameliorates NAFLD via SCO1-AMPK-LKB1 complex. |
Volume: |
41 |
Issue: |
3 |
Pages: |
111498 |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang H |
Year: |
2010 |
Journal: |
Hum Mol Genet |
Title: |
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. |
Volume: |
19 |
Issue: |
1 |
Pages: |
170-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP) |
Year: |
2011 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory DNA Panel Mapping Resource |
Year: |
1999 |
Journal: |
Database Release |
Title: |
JAX Interspecific Backcross BSS and BSB Public Mapping Data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Brady KP |
Year: |
1997 |
Journal: |
Genome Res |
Title: |
Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. |
Volume: |
7 |
Issue: |
11 |
Pages: |
1085-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pagliarini DJ |
Year: |
2008 |
Journal: |
Cell |
Title: |
A mitochondrial protein compendium elucidates complex I disease biology. |
Volume: |
134 |
Issue: |
1 |
Pages: |
112-23 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ingham NJ |
Year: |
2019 |
Journal: |
PLoS Biol |
Title: |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. |
Volume: |
17 |
Issue: |
4 |
Pages: |
e3000194 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
UniProt Feature |
|
Description: |
Protein SCO1 homolog, mitochondrial |
Type: |
chain |
End: |
284 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE58997 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
284
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
289
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Strain |
Attribute String: |
chemically induced mutation, coisogenic, mutant strain |
|
•
•
•
•
•
|
Publication |
First Author: |
Buchwald P |
Year: |
1991 |
Journal: |
Mol Gen Genet |
Title: |
Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane. |
Volume: |
229 |
Issue: |
3 |
Pages: |
413-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Leary SC |
Year: |
2004 |
Journal: |
Hum Mol Genet |
Title: |
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. |
Volume: |
13 |
Issue: |
17 |
Pages: |
1839-48 |
|
•
•
•
•
•
|
Publication |
First Author: |
Leary SC |
Year: |
2007 |
Journal: |
Cell Metab |
Title: |
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. |
Volume: |
5 |
Issue: |
1 |
Pages: |
9-20 |
|
•
•
•
•
•
|
Allele |
Name: |
SCO1 cytochrome c oxidase assembly protein; wild type |
|
|
|
•
•
•
•
•
|
Allele |
Name: |
SCO1 cytochrome c oxidase assembly protein; targeted mutation 1a, Wellcome Trust Sanger Institute |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, Null/knockout, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
SCO1 cytochrome c oxidase assembly protein; targeted mutation 1c, Wellcome Trust Sanger Institute |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready |
|
•
•
•
•
•
|
Allele |
Name: |
SCO1 cytochrome c oxidase assembly protein; endonuclease-mediated mutation 1, Scot C Leary |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Allele |
Name: |
SCO1 cytochrome c oxidase assembly protein; endonuclease-mediated mutation 1, GemPharmatech Co., Ltd |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Allele |
Name: |
KIT proto-oncogene receptor tyrosine kinase; Martin Hrabe de Angelis spotted coat 1 |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bourens M |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. |
Volume: |
23 |
Issue: |
11 |
Pages: |
2901-13 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Sco1/Sco1 |
Background: |
involves: C57BL/6N |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Sco1/Sco1 |
Background: |
C57BL/6N-Sco1/Wtsi |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Sco1/Sco1 |
Background: |
involves: C57BL/6 * C57BL/6N * DBA |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Sco1/Sco1 Tg(Myh6-cre)2182Mds/? |
Background: |
involves: C57BL/6N * FVB/N |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Sco1/Sco1 Tg(Ckmm-cre)5Khn/? |
Background: |
involves: C57BL/6N * FVB |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Sco1/Sco1 Speer6-ps1/Speer6-ps1<+> |
Background: |
involves: C57BL/6 * C57BL/6N * DBA |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Takahashi Y |
Year: |
2002 |
Journal: |
Mol Cell Biol |
Title: |
Mammalian copper chaperone Cox17p has an essential role in activation of cytochrome C oxidase and embryonic development. |
Volume: |
22 |
Issue: |
21 |
Pages: |
7614-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Oswald C |
Year: |
2009 |
Journal: |
J Mol Biol |
Title: |
Knockdown of human COX17 affects assembly and supramolecular organization of cytochrome c oxidase. |
Volume: |
389 |
Issue: |
3 |
Pages: |
470-9 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Cox17p is essential for the assembly of functional cytochrome c oxidase (CCO). Binds and delivers two copper ions to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2) [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Banci L |
Year: |
2007 |
Journal: |
Structure |
Title: |
A structural characterization of human SCO2. |
Volume: |
15 |
Issue: |
9 |
Pages: |
1132-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Matoba S |
Year: |
2006 |
Journal: |
Science |
Title: |
p53 regulates mitochondrial respiration. |
Volume: |
312 |
Issue: |
5780 |
Pages: |
1650-3 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry represents cytochrome c oxidase assembly factors Sco1 and Sco2 (Synthesis of Cytochrome c Oxidase, factors 1 and 2), mitochondrial inner membrane-tethered metallochaperones that have regulatory roles in the maintenance of cellular copper homeostasis. These proteins are essential for the assembly of the catalytic core of cytochrome c oxidase (COX or complex IV), as well as other roles in copper homeostasis such as mitochondrial redox signalling []. Both Sco1 and Sco2 contain highly conserved CXXXC motifs thought to be required for copper binidng.COX is the terminal enzyme of the energy transducing respiratory chain in eukaryotes and certain prokaryotes. It catalyses the transfer of electrons from cytochrome c to molecular oxygen and pumps protons across the mitochondrial inner membrane to establish a proton gradient for ATP synthesis. It consists of 12-13 protein subunits, with 3 subunits (Cox1-Cox3) forming the enzyme core. COX uses haem and copper as cofactors: Cox1 contains a 1-copper centre (CuB) that interacts with the haem moiety and Cox2 contains a 2-copper centre (CuA). Sco1 and Sco2 act as copper chaperones, transporting copper to the CuA site in Cox2, and are thought to have cooperative functions in COX assembly [, ]. In addition, human Sco2 is also the downstream mediator of the balance between the utilization of respiratory and glycolytic pathways []and both Sco1 and Sco2 may have regulatory roles in regulating cellular copper levels (homeostasis) []. Sco2 may have a copper-level-detection signalling role, acting upstream and in conjunction with Sco1.Defects in Sco1 are a cause of cytochrome c oxidase deficiency (COX deficiency) (OMIM:220110), a clinically heterogeneous disorder with features ranging from isolated myopathy to severe multisystem disease, and onset from infancy to adulthood. Defects in Sco2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) (OMIM:604377, OMIM:220110), which is characterised by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. |
|
•
•
•
•
•
|
Publication |
First Author: |
Williams JC |
Year: |
2005 |
Journal: |
J Biol Chem |
Title: |
Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein. |
Volume: |
280 |
Issue: |
15 |
Pages: |
15202-11 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
63
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
63
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
63
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Buggy J |
Year: |
1995 |
Journal: |
J Bacteriol |
Title: |
Cloning and characterization of senC, a gene involved in both aerobic respiration and photosynthesis gene expression in Rhodobacter capsulatus. |
Volume: |
177 |
Issue: |
23 |
Pages: |
6958-65 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mattatall NR |
Year: |
2000 |
Journal: |
J Biol Chem |
Title: |
Characterization of YpmQ, an accessory protein required for the expression of cytochrome c oxidase in Bacillus subtilis. |
Volume: |
275 |
Issue: |
37 |
Pages: |
28802-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pecina P |
Year: |
2004 |
Journal: |
Physiol Res |
Title: |
Genetic defects of cytochrome c oxidase assembly. |
Volume: |
53 Suppl 1 |
|
Pages: |
S213-23 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nittis T |
Year: |
2001 |
Journal: |
J Biol Chem |
Title: |
Yeast Sco1, a protein essential for cytochrome c oxidase function is a Cu(I)-binding protein. |
Volume: |
276 |
Issue: |
45 |
Pages: |
42520-6 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The SCO (an acronym for Synthesis of Cytochrome c Oxidase) family is involved in biogenesis of respiratory and photosynthetic systems. Members of this family are required for the proper assembly of cytochrome c oxidase (COX). They contain a metal binding motif, typically CXXXC, which is located in a flexible loop. In yeast the SCO1 protein is specifically required for a post-translational step in the accumulation of subunits 1 and 2 of cytochrome c oxidase (COXI and COX-II) []. It is a mitochondrion-associated cytochrome c oxidase assembly factor, and a membrane-anchored protein possessing a soluble domain with a TRX fold []. The SCOP homologue in Bacillus subtilis is also required for the expression of cytochrome c oxidase []. It has been proposed that Sco1 specifically delivers copper to the CuA site, a dinuclear copper centre, of the COX II subunit. More recently, it has been argued that the redox sensitivity of the copper binding properties of Sco1 implies that it participates in signaling events rather than functioning as a chaperone that transfers copper to COX II [, ].The purple nonsulphur photosynthetic eubacterium Rhodobacter capsulatus is a versatile organism that can obtain cellular energy by several means, including the capture of light energy for photosynthesis as well as the use of light-independent respiration, in which molecular oxygen serves as a terminal electron acceptor. The SenC protein is required for optimal cytochrome c oxidase activity in aerobically grown R. capsulatus cells and is involved in the induction of structural polypeptides of the light-harvesting and reaction centre complexes [].Mutations in human Sco1 and Sco2 cause fatal infantile hepatoencephalomyopathy and cardioencephalomyopathy, respectively. Both disorders are associated with severe COX deficiency in affected tissues []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
229
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Albrecht V |
Year: |
2006 |
Journal: |
Plant Mol Biol |
Title: |
Characterization of the snowy cotyledon 1 mutant of Arabidopsis thaliana: the impact of chloroplast elongation factor G on chloroplast development and plant vitality. |
Volume: |
60 |
Issue: |
4 |
Pages: |
507-18 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Bacterial translation elongation factor G (EF-G) catalyses translocation during peptide elongation and mediates ribosomal disassembly during ribosome recycling with the aid of the ribosomal recycling factor (RRF). This entry represents plant plastid EF-G (also known as SCO1), which displays a 59% homology to prokaryotic EF-G proteins. It is a chloroplast-localised elongation factor involved in protein synthesis in plastids. In Arabidopsis, the mutations in sco1 affect thechloroplast mRNA translation that does not only influence chlorophyll accumulation during chloroplast formation in cotyledons, but also other developmental processes such as germination and flowering []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
255
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
247
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
MartÃnez-Morentin L |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model. |
Volume: |
24 |
Issue: |
13 |
Pages: |
3608-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huttlin EL |
Year: |
2010 |
Journal: |
Cell |
Title: |
A tissue-specific atlas of mouse protein phosphorylation and expression. |
Volume: |
143 |
Issue: |
7 |
Pages: |
1174-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Church DM |
Year: |
2009 |
Journal: |
PLoS Biol |
Title: |
Lineage-specific biology revealed by a finished genome assembly of the mouse. |
Volume: |
7 |
Issue: |
5 |
Pages: |
e1000112 |
|
•
•
•
•
•
|