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Search results 101 to 200 out of 200 for Sco1

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Type Details Score
GXD Expression    
Probe: MGI:7282286
Assay Type: Western blot
Annotation Date: 2022-06-07
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7284121
Age: postnatal day 18
Image: 4
Specimen Label: P18 Sco1stm/stm
Detected: false
Specimen Num: 4
GXD Expression    
Probe: MGI:7282286
Assay Type: Western blot
Annotation Date: 2022-06-07
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7284121
Age: postnatal day 30
Image: 4
Specimen Label: P30 Controls
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:7282286
Assay Type: Western blot
Annotation Date: 2022-06-07
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7284121
Age: postnatal day 60
Image: 4
Specimen Label: P60 Sco1stm/stm
Detected: false
Specimen Num: 10
GXD Expression    
Probe: MGI:7282286
Assay Type: Western blot
Annotation Date: 2022-06-07
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7284131
Age: postnatal day 120
Image: 6
Specimen Label: Control
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7282286
Assay Type: Western blot
Annotation Date: 2022-06-07
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7284133
Age: postnatal day 120
Specimen Label: Sco1G115S/G115S
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:7282286
Assay Type: Western blot
Annotation Date: 2022-06-07
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7284113
Age: postnatal day 90
Image: 3
Specimen Label: Control
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:4948516
Assay Type: Northern blot
Annotation Date: 2011-04-28
Strength: Present
Sex: Pooled
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:4948518
Age: postnatal week 8-10
Specimen Label: Liver
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:4948516
Assay Type: Northern blot
Annotation Date: 2011-04-28
Strength: Present
Sex: Pooled
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:4948518
Age: postnatal week 8-10
Specimen Label: Brain
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:1737328
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:4948532
Age: postnatal
Note: Staining is generally uniform in the "bulk" tissue.
Specimen Label: Kidney
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:4948529
Assay Type: Immunohistochemistry
Annotation Date: 2011-04-28
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3518228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:4948541
Age: postnatal
Specimen Label: Brain
Detected: true
Specimen Num: 1
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: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: 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: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: 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
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: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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: 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
Gene
Type: gene
Organism: macaque, rhesus
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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 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: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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 NCBI annotations
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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: 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: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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; endonuclease-mediated mutation 1, Scot C Leary
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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; 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; 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: 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, 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: Martínez-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