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Aliases for SCO1 Gene

Aliases for SCO1 Gene

  • SCO1, Cytochrome C Oxidase Assembly Protein 2 3
  • SCOD1 3 4
  • SCO (Cytochrome Oxidase Deficient, Yeast) Homolog 1 2
  • SCO Cytochrome Oxidase Deficient Homolog 1 (Yeast) 2
  • SCO Cytochrome Oxidase Deficient Homolog 1 3
  • SCO1 Cytochrome C Oxidase Assembly Protein 5
  • Protein SCO1 Homolog, Mitochondrial 3

External Ids for SCO1 Gene

Previous HGNC Symbols for SCO1 Gene

  • SCOD1

Previous GeneCards Identifiers for SCO1 Gene

  • GC17M010949
  • GC17M011698
  • GC17M010526
  • GC17M010784
  • GC17M010524
  • GC17M010483
  • GC17M010583

Summaries for SCO1 Gene

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 Mitochondrial Complex Iv Deficiency and Fatal Infantile Cytochrome C Oxidase Deficiency. Among its related pathways are p53 Pathway (RnD) and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and antioxidant activity. An important paralog of this gene is SCO2.

UniProtKB/Swiss-Prot for SCO1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCO1 Gene

Genomics for SCO1 Gene

Regulatory Elements for SCO1 Gene

Enhancers for SCO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SCO1 on UCSC Golden Path with GeneCards custom track

Promoters for SCO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SCO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SCO1 Gene

Chromosome:
17
Start:
10,672,474 bp from pter
End:
10,698,375 bp from pter
Size:
25,902 bases
Orientation:
Minus strand

Genomic View for SCO1 Gene

Genes around SCO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCO1 Gene

Proteins for SCO1 Gene

  • Protein details for SCO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75880-SCO1_HUMAN
    Recommended name:
    Protein SCO1 homolog, mitochondrial
    Protein Accession:
    O75880
    Secondary Accessions:
    • B2RDM0

    Protein attributes for SCO1 Gene

    Size:
    301 amino acids
    Molecular mass:
    33814 Da
    Quaternary structure:
    • Homodimer (PubMed:16735468). Interacts with COA6 (PubMed:26160915).

    Three dimensional structures from OCA and Proteopedia for SCO1 Gene

neXtProt entry for SCO1 Gene

Post-translational modifications for SCO1 Gene

  • Ubiquitination at Lys 89 and Lys 133
  • Modification sites at PhosphoSitePlus

Other Protein References for SCO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SCO1 Gene

Domains & Families for SCO1 Gene

Suggested Antigen Peptide Sequences for SCO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75880

UniProtKB/Swiss-Prot:

SCO1_HUMAN :
  • Belongs to the SCO1/2 family.
Family:
  • Belongs to the SCO1/2 family.
genes like me logo Genes that share domains with SCO1: view

Function for SCO1 Gene

Molecular function for SCO1 Gene

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

Gene Ontology (GO) - Molecular Function for SCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding IPI 26160915
genes like me logo Genes that share ontologies with SCO1: view
genes like me logo Genes that share phenotypes with SCO1: view

Human Phenotype Ontology for SCO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SCO1 Gene

miRTarBase miRNAs that target SCO1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SCO1 Gene

Localization for SCO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCO1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCO1 Gene COMPARTMENTS Subcellular localization image for SCO1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,TAS 9878253
GO:0005743 mitochondrial inner membrane IEA --
GO:0030016 myofibril IDA 20864674
GO:0072492 host cell mitochondrial intermembrane space IDA 25339201
genes like me logo Genes that share ontologies with SCO1: view

Pathways & Interactions for SCO1 Gene

genes like me logo Genes that share pathways with SCO1: view

Gene Ontology (GO) - Biological Process for SCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 9878253
GO:0006825 copper ion transport IEA --
GO:0006878 cellular copper ion homeostasis IEA --
GO:0008535 respiratory chain complex IV assembly IEA --
GO:0033617 mitochondrial respiratory chain complex IV assembly IEA --
genes like me logo Genes that share ontologies with SCO1: view

No data available for SIGNOR curated interactions for SCO1 Gene

Drugs & Compounds for SCO1 Gene

(3) Drugs for SCO1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 166

(1) Additional Compounds for SCO1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SCO1: view

Transcripts for SCO1 Gene

Unigene Clusters for SCO1 Gene

SCO1 cytochrome c oxidase assembly protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCO1 Gene

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

Relevant External Links for SCO1 Gene

GeneLoc Exon Structure for
SCO1
ECgene alternative splicing isoforms for
SCO1

Expression for SCO1 Gene

mRNA expression in normal human tissues for SCO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SCO1 Gene

This gene is overexpressed in Gallbladder (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SCO1 Gene



Protein tissue co-expression partners for SCO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCO1 Gene:

SCO1

SOURCE GeneReport for Unigene cluster for SCO1 Gene:

Hs.14511

mRNA Expression by UniProt/SwissProt for SCO1 Gene:

O75880-SCO1_HUMAN
Tissue specificity: Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.
genes like me logo Genes that share expression patterns with SCO1: view

Primer Products

No data available for mRNA differential expression in normal tissues for SCO1 Gene

Orthologs for SCO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SCO1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SCO1 34
  • 86.6 (n)
  • 81.73 (a)
SCO1 35
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCO1 34
  • 82.77 (n)
  • 79.05 (a)
SCO1 35
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sco1 34
  • 79.29 (n)
  • 75.36 (a)
Sco1 16
Sco1 35
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCO1 34
  • 99.11 (n)
  • 98.67 (a)
SCO1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sco1 34
  • 79.52 (n)
  • 75 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 69 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves SCO1 34
  • 75.39 (n)
  • 78.49 (a)
SCO1 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCO1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494754 34
  • 68.96 (n)
  • 72.53 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC796572 34
  • 60.94 (n)
  • 62.98 (a)
SCO1 35
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8885 36
  • 54 (a)
Scox 34
  • 56.98 (n)
  • 54.19 (a)
Scox 35
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008774 34
  • 54.06 (n)
  • 51.68 (a)
worm
(Caenorhabditis elegans)
Secernentea C01F1.2 36
  • 45 (a)
sco-1 34
  • 51.92 (n)
  • 45.67 (a)
sco-1 35
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL191C 34
  • 46.47 (n)
  • 38.92 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03630g 34
  • 51.23 (n)
  • 40.39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCO1 34
  • 49.09 (n)
  • 40.3 (a)
SCO1 35
  • 32 (a)
ManyToMany
SCO2 35
  • 29 (a)
ManyToMany
SCO2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08950 34
  • 52.12 (n)
  • 43.18 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5491 34
rice
(Oryza sativa)
Liliopsida Os.8872 34
Os02g0159700 34
  • 57.43 (n)
  • 47.59 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03177 34
  • 48.1 (n)
  • 37.62 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sco1 34
  • 51.28 (n)
  • 40.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4765 35
  • 52 (a)
OneToOne
Species where no ortholog for SCO1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCO1 Gene

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

Paralogs for SCO1 Gene

Paralogs for SCO1 Gene

(1) SIMAP similar genes for SCO1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SCO1 Gene

genes like me logo Genes that share paralogs with SCO1: view

Variants for SCO1 Gene

Sequence variations from dbSNP and Humsavar for SCO1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs104894630 Mitochondrial complex IV deficiency (MT-C4D) 10,692,805(-) CTGTC(C/T)AGAAG reference, missense
VAR_014537 -
rs2254730 -- 10,691,707(-) AGTGC(A/G)TAAGT intron-variant
rs2271228 -- 10,691,933(-) ACTCC(A/G)CTTTT reference, synonymous-codon
rs2271229 -- 10,691,835(-) TAGCC(G/T)TAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCO1 Gene

Variant ID Type Subtype PubMed ID
nsv1058835 CNV loss 25217958
nsv1063900 CNV gain 25217958
nsv1065819 CNV gain 25217958
nsv833367 CNV loss 17160897

Variation tolerance for SCO1 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCO1 Gene

Human Gene Mutation Database (HGMD)
SCO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCO1 Gene

Disorders for SCO1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SCO1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
fatal infantile cytochrome c oxidase deficiency
  • fatal infantile cox deficiency
hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
cardioencephalomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search SCO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCO1_HUMAN
  • 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. {ECO:0000269 PubMed:11013136}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCO1

Genetic Association Database (GAD)
SCO1
Human Genome Epidemiology (HuGE) Navigator
SCO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCO1
genes like me logo Genes that share disorders with SCO1: view

No data available for Genatlas for SCO1 Gene

Publications for SCO1 Gene

  1. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. (PMID: 17189203) Leary S.C. … Shoubridge E.A. (Cell Metab. 2007) 3 4 22 65
  2. Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase 'assembly' protein. (PMID: 15659396) Williams J.C. … Schon E.A. (J. Biol. Chem. 2005) 3 4 22 65
  3. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. (PMID: 11013136) Valnot I. … Rotig A. (Am. J. Hum. Genet. 2000) 3 4 22 65
  4. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. (PMID: 11027508) Horvath R. … Jaksch M. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 65
  5. 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. (PMID: 9878253) Petruzzella V. … Zeviani M. (Genomics 1998) 2 3 4 65

Products for SCO1 Gene

Sources for SCO1 Gene

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