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SCO1 Gene

protein-coding   GIFtS: 64
GCID: GC17M010583

SCO1 Cytochrome C Oxidase Assembly Protein

(Previous names: SCO (cytochrome oxidase deficient, yeast) homolog 1, SCO...)
(Previous symbol: SCOD1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SCO1 Cytochrome C Oxidase Assembly Protein1 2
SCOD11 2 3 5
SCO (Cytochrome Oxidase Deficient, Yeast) Homolog 11
SCO Cytochrome Oxidase Deficient Homolog 1 (Yeast)1
Protein SCO1 Homolog, Mitochondrial2
SCO Cytochrome Oxidase Deficient Homolog 12

External Ids:    HGNC: 106031   Entrez Gene: 63412   Ensembl: ENSG000001330287   OMIM: 6036445   UniProtKB: O758803   

Export aliases for SCO1 gene to outside databases

Previous GC identifers: GC17M010949 GC17M011698 GC17M010526 GC17M010784 GC17M010524 GC17M010483


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SCO1 Gene:
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 to the yeast SCO1 gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SCO1 Gene:
SCO1 (SCO1 cytochrome c oxidase assembly protein) is a protein-coding gene. Diseases associated with SCO1 include hepatic failure, early onset, and neurologic disorder, and hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency. GO annotations related to this gene include copper ion binding. An important paralog of this gene is SCO2.

UniProtKB/Swiss-Prot: SCO1_HUMAN, O75880
Function: Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of
copper into the active site of COX

Gene Wiki entry for SCO1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCO1 gene promoter:
         AML1a   CUTL1   HNF-3beta   FOXL1   E47   GATA-1   AREB6   GATA-6   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCO1 promoter sequence
   Search Chromatin IP Primers for SCO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

SCO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCO1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M010583:  view genomic region     (about GC identifiers)

Start:
10,583,649 bp from pter      End:
10,601,692 bp from pter
Size:
18,044 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SCO1_HUMAN, O75880 (See protein sequence)
Recommended Name: Protein SCO1 homolog, mitochondrial precursor  
Size: 301 amino acids; 33814 Da
Subunit: Homodimer
Selected PDB 3D structures from and Proteopedia for SCO1 (see all 10):
1WP0 (3D)        2GGT (3D)        2GQK (3D)        2GQL (3D)        2GQM (3D)        2GT5 (3D)    
Secondary accessions: B2RDM0

Explore the universe of human proteins at neXtProt for SCO1: NX_O75880

Explore proteomics data for SCO1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys89, Lys133
  • Modification sites at PhosphoSitePlus

  • See SCO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004580.1  
    ENSEMBL proteins: 
     ENSP00000255390   ENSP00000463387   ENSP00000464032  

    SCO1 Human Recombinant Protein Products:

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    Novus Biologicals SCO1 Proteins
    Novus Biologicals SCO1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SCO1

    SCO1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for SCO1

    SCO1 Assay Products:

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    Cloud-Clone Corp. ELISAs for SCO1
    Cloud-Clone Corp. CLIAs for SCO1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    3 InterPro protein domains:
     IPR012336 Thioredoxin-like_fold
     IPR003782 SCO1/SenC
     IPR017276 Synth_of_cyt-c-oxidase_Sco1/2

    Graphical View of Domain Structure for InterPro Entry O75880

    ProtoNet protein and cluster: O75880

    1 Blocks protein domain: IPB003782 Electron transport protein SCO1/SenC

    UniProtKB/Swiss-Prot: SCO1_HUMAN, O75880
    Similarity: Belongs to the SCO1/2 family


    SCO1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCO1_HUMAN, O75880
    Function: Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of
    copper into the active site of COX

         Genatlas biochemistry entry for SCO1:
    yeast SCO1 homolog,inner mitochondrial membrane in yeast,specifically required for a post-translational step of c
    oxidase,either involved in transport or in the insertion of copper into the active site of the enzyme

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IEA--
    GO:0016209antioxidant activity ----
    GO:0016491oxidoreductase activity ----
         
    SCO1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sco1):
     mortality/aging 

    SCO1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCO1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SCO1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCO1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCO1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SCO1:
    hsa-mir-193b-3p (MIRT041476)

    Block miRNA regulation of human, mouse, rat SCO1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate SCO1:
    hsa-miR-877* hsa-miR-548c-3p hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidSCO1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SCO1
    Predesigned siRNA for gene silencing in human, mouse, rat SCO1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SCO1

    Clone
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    OriGene clones in human, mouse for SCO1 (see all 7)
    OriGene ORF clones in mouse, rat for SCO1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SCO1 (NM_004589)
    Sino Biological Human cDNA Clone for SCO1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCO1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SCO1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SCO1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCO1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCO1_HUMAN, O75880: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus3
    cytosol1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS9878253
    GO:0005743mitochondrial inner membrane IEA--
    GO:0030016myofibril IDA--

    SCO1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SCO1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Electron Transport Chain0.75


    1 BioSystems Pathway for SCO1
        Electron Transport Chain



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCO1
    Interactions:

        GeneGlobe Interaction Network for SCO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for SCO1 (O758803 ENSP000002553904) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MT-CO2P004033, ENSP000003548764I2D: score=3 STRING: ENSP00000354876
    COX11Q9Y6N13, ENSP000002993354I2D: score=1 STRING: ENSP00000299335
    COX15Q7KZN93, ENSP000000161714I2D: score=1 STRING: ENSP00000016171
    LACE1Q8WV933, ENSP000003579734I2D: score=1 STRING: ENSP00000357973
    CATP040403, ENSP000002410524I2D: score=1 STRING: ENSP00000241052
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS9878253
    GO:0006825copper ion transport IEA--
    GO:0006878cellular copper ion homeostasis IEA--
    GO:0008535respiratory chain complex IV assembly IEA--
    GO:0055114oxidation-reduction process ----

    SCO1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SCO1

    1 HMDB Compound for SCO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--

    4 Novoseek inferred chemical compound relationships for SCO1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    copper 50 13 19295170 (3), 15659396 (2), 14729672 (1), 15239669 (1) (see all 6)
    nadh 26.6 2 15234657 (1), 10426366 (1)
    superoxide 14.9 2 14729672 (1), 15239669 (1)
    glucose 0 1 16540710 (1)



    SCO1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SCO1 gene: 
    NM_004589.3  

    Unigene Cluster for SCO1:

    SCO1 cytochrome c oxidase assembly protein
    Hs.14511  [show with all ESTs]
    Unigene Representative Sequence: NM_004589
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255390(uc002gmr.4) ENST00000577427 ENST00000577335 ENST00000582053
    ENST00000579396

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SCO1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate SCO1:
    hsa-miR-877* hsa-miR-548c-3p hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidSCO1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SCO1
    Predesigned siRNA for gene silencing in human, mouse, rat SCO1
    Clone
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    OriGene clones in human, mouse for SCO1 (see all 7)
    OriGene ORF clones in mouse, rat for SCO1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SCO1 (NM_004589)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCO1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SCO1
    OriGene qSTAR qPCR primer pairs in human, mouse for SCO1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCO1
      QuantiTect SYBR Green Assays in human, mouse, rat SCO1
      QuantiFast Probe-based Assays in human, mouse, rat SCO1

    Additional mRNA sequence: 

    AF026852.1 AF131816.1 AF183424.1 AK074588.1 AK098826.1 AK315595.1 BC015504.2 

    7 DOTS entries:

    DT.447481  DT.100811090  DT.100811089  DT.40220121  DT.100811091  DT.92427302  DT.95278904 

    Selected AceView cDNA sequences (see all 209):

    AA336302 CK822633 BM709047 AI094953 AW024427 BE858510 CR621918 BI489918 
    BQ437964 BI818717 BM705547 AA890671 AW952622 AI251935 BM424176 CR624800 
    AI078479 CR615183 AL555089 BX379204 BE389092 AA337685 CR620606 CR593722 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SCO1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b
    SP1:              -           -     -                           
    SP2:              -                                             
    SP3:              -                                             
    SP4:                                                            


    ECgene alternative splicing isoforms for SCO1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SCO1 expression in normal human tissues (normalized intensities)      SCO1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGGGGCGAG
    SCO1 Expression
    About this image


    SCO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SCO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCO1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.14511

    UniProtKB/Swiss-Prot: SCO1_HUMAN, O75880
    Tissue specificity: Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation
    (OxPhos), including muscle, heart, and brain

        Custom PCR Arrays for SCO1
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    QuantiFast Probe-based Assays in human, mouse, rat SCO1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCO1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SCO1 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sco11 , 5 SCO cytochrome oxidase deficient homolog 1 (yeast)1, 5 79.29(n)1
    75.36(a)1
      11 (40.59 cM)5
    528921  NM_001040026.11  NP_001035115.11 
     670526705 
    chicken
    (Gallus gallus)
    Aves SCO11 SCO cytochrome oxidase deficient homolog 1 (yeast) 75.39(n)
    78.49(a)
      426060  XM_004946063.1  XP_004946120.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCO16
    SCO1 cytochrome c oxidase assembly protein
    77(a)
    1 ↔ 1
    2(108837287-108843762)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004947541 protein SCO1 homolog, mitochondrial-like 68.96(n)
    72.53(a)
      100494754  XM_002937003.2  XP_002937049.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7965721 protein SCO1 homolog, mitochondrial-like 60.94(n)
    62.98(a)
      796572  XM_005164308.1  XP_005164365.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88853
    Scox1
    Synthesis of cytochrome c oxidase1 54(a)3
    56.98(n)1
    54.19(a)1
      25B53
    337111  NM_135040.41  NP_608884.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C01F1.23
    sco-11
    sco-11 45(a)3
    51.92(n)1
    45.67(a)1
      II(4299655-4300715)3
    1737631  NM_062354.51  NP_494755.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SCO2(YBR024W)4
    SCO11
    Protein anchored to the mitochondrial inner membrane, more4
    SCO11
    49.09(n)1
    40.3(a)1
      2(289445-290350)4
    8523251  NP_009593.11  8523124 
     NP_009580.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G089501 AT3G08950 52.12(n)
    43.18(a)
      820046  NM_111729.2  NP_566339.1 
    rice
    (Oryza sativa)
    Liliopsida Os.88722 Oryza sativa (japonica cultivar-group) cDNA clone0 more 71.31(n)    AK073907.1 


    ENSEMBL Gene Tree for SCO1 (if available)
    TreeFam Gene Tree for SCO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCO1 gene
    SCO22  
    1 SIMAP similar gene for SCO1 using alignment to 3 protein entries:     SCO1_HUMAN (see all proteins):
    SCO2

    SCO1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SCO1
    PGOHUM00000239439


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCO1 (see all 489)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0121094
    Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0121092 P L mis40--------
    rs1048946301,2
    Cpathogenic110585896(-) CTGTCC/TAGAAG 2 P L mis10--------
    rs671930781,2
    C--10501180(+) GGGCC-/GCCCGC 1 -- us2k10--------
    rs283868351,2
    C,F--10572947(+) CTGAAG/ACCTTG 1 -- int110Minor allele frequency- A:0.42NA WA EA 372
    rs26629611,2
    C,F,A--10573037(-) CTACAG/AAAGAT 1 -- int15Minor allele frequency- A:0.07NA WA 260
    rs1116266901,2
    C--10573052(+) GGGGGC/GGGGGG 1 -- int10--------
    rs73595941,2
    C,F--10573061(+) GGGGGG/CGGGTC 1 -- int13Minor allele frequency- C:0.14NA 124
    rs26629601,2
    C,F,H--10573173(-) AATAAC/TTTGCC 1 -- int15Minor allele frequency- T:0.04NS EA WA 510
    rs777772281,2
    C,F--10573197(+) CTTTCT/CTAAGG 1 -- int11Minor allele frequency- C:0.02EA 120
    rs65033201,2
    C,F,A--10573217(+) agtccG/Accagc 1 -- int14Minor allele frequency- A:0.02NA WA 260

    HapMap Linkage Disequilibrium report for SCO1 (10583649 - 10601692 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SCO1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833367CNV Loss17160897
    nsv907682CNV Gain21882294

    Human Gene Mutation Database (HGMD): SCO1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCO1
    DNA2.0 Custom Variant and Variant Library Synthesis for SCO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603644    OMIM disorders: --

    UniProtKB/Swiss-Prot: SCO1_HUMAN, O75880
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory
    chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease
    affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver
    dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and
    mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal
    death. A subset of patients manifest Leigh syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 19 diseases for SCO1:    About MalaCards
    hepatic failure, early onset, and neurologic disorder    hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency    cardioencephalomyopathy    cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
    menkes disease    mitochondrial disorders    hypotonia    hypertrophic cardiomyopathy
    alzheimer's disease    malaria    myopathy    liver disease
    hypoxia    mental retardation    hepatitis    multiple myeloma
    myeloma    thyroiditis    cerebritis

    1 disease from the University of Copenhagen DISEASES database for SCO1:
    Leigh disease

    SCO1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for SCO1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochrome c oxidase deficiency 86.3 1 11013136 (1)
    mitochondrial diseases 72.5 1 15659396 (1)
    liver failure 40.7 1 11013136 (1)
    alzheimers disease 12 3 17786024 (2), 17549012 (1)

    Genetic Association Database (GAD): SCO1
    Human Genome Epidemiology (HuGE) Navigator: SCO1 (4 documents)

    Export disorders for SCO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SCO1 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with SCO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 9878253)1, 2, 3 Petruzzella V....Zeviani M. (Genomics 1998)
    2. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. (PubMed id 17189203)1, 2, 9 Leary S.C....Shoubridge E.A. (Cell Metab. 2007)
    3. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. (PubMed id 11027508)1, 2, 9 Horvath R.... Jaksch M. (Biochem. Biophys. Res. Commun. 2000)
    4. Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase 'assembly' protein. (PubMed id 15659396)1, 2, 9 Williams J.C.... Schon E.A. (J. Biol. Chem. 2005)
    5. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. (PubMed id 11013136)1, 2, 9 Valnot I.... Rotig A. (Am. J. Hum. Genet. 2000)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Genome-wide and fine-resolution association analysis of malaria in West Africa. (PubMed id 19465909)1, 4 Jallow M.... . (Nat. Genet. 2009)
    9. A hint for the function of human Sco1 from different structures. (PubMed id 16735468)1, 2 Banci L.... Wang S. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6341 HGNC: 10603 AceView: SCO1 Ensembl:ENSG00000133028 euGenes: HUgn6341
    ECgene: SCO1 H-InvDB: SCO1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SCO1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SCO1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SCO1 gene:
    Search GeneIP for patents involving SCO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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