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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
  • Protein SCO1 Homolog, Mitochondrial 3
  • SCOD1, 6

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 hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency and fatal infantile cytochrome c oxidase deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include copper ion binding. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SCO1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Three dimensional structures from OCA and Proteopedia for SCO1 Gene

neXtProt entry for SCO1 Gene

Proteomics data for SCO1 Gene at MOPED

Post-translational modifications for SCO1 Gene

  • Ubiquitination at Lys89 and Lys133
  • 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 for SCO1 Gene

Gene Families for SCO1 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

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 :
  • O75880
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:0016209 antioxidant activity --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with SCO1: view

Phenotypes for SCO1 Gene

MGI mutant phenotypes for SCO1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with SCO1: view

Animal Model Products

CRISPR Products

miRNA for SCO1 Gene

miRTarBase miRNAs that target SCO1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCO1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 TAS 9878253
GO:0005743 mitochondrial inner membrane IEA --
GO:0030016 myofibril IDA 20864674
genes like me logo Genes that share ontologies with SCO1: view

Pathways for SCO1 Gene

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

Pathways by source for SCO1 Gene

1 BioSystems pathway for SCO1 Gene

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:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with SCO1: view

Compounds for SCO1 Gene

(1) HMDB Compounds for SCO1 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8

(4) Novoseek inferred chemical compound relationships for SCO1 Gene

Compound -log(P) Hits PubMed IDs
copper 50 9
nadh 26.6 2
superoxide 14.9 2
glucose 0 1
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCO1

Primer 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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SCO1 Gene

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 expressions with SCO1: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SCO1 35
  • 99.11 (n)
  • 98.67 (a)
SCO1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCO1 35
  • 86.6 (n)
  • 81.73 (a)
SCO1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCO1 35
  • 82.77 (n)
  • 79.05 (a)
SCO1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sco1 35
  • 79.29 (n)
  • 75.36 (a)
Sco1 16
Sco1 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sco1 35
  • 79.52 (n)
  • 75 (a)
chicken
(Gallus gallus)
Aves SCO1 35
  • 75.39 (n)
  • 78.49 (a)
SCO1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCO1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494754 35
  • 68.96 (n)
  • 72.53 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC796572 35
  • 60.94 (n)
  • 62.98 (a)
SCO1 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008774 35
  • 54.06 (n)
  • 51.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Scox 35
  • 56.98 (n)
  • 54.19 (a)
Scox 36
  • 48 (a)
OneToOne
CG8885 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea sco-1 35
  • 51.92 (n)
  • 45.67 (a)
sco-1 36
  • 33 (a)
OneToOne
C01F1.2 37
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL191C 35
  • 46.47 (n)
  • 38.92 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCO1 35
  • 49.09 (n)
  • 40.3 (a)
SCO1 36
  • 32 (a)
ManyToMany
SCO2 36
  • 29 (a)
ManyToMany
SCO2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03630g 35
  • 51.23 (n)
  • 40.39 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5491 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08950 35
  • 52.12 (n)
  • 43.18 (a)
rice
(Oryza sativa)
Liliopsida Os.8872 35
Os02g0159700 35
  • 57.43 (n)
  • 47.59 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03177 35
  • 48.1 (n)
  • 37.62 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sco1 35
  • 51.28 (n)
  • 40.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4765 36
  • 52 (a)
OneToOne
Species with no ortholog for SCO1:
  • 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

Selected 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 MAF
rs7512 -- 10,680,397(-) GAGTA(C/G)CTTTC utr-variant-3-prime
rs1509112 -- 10,695,317(-) CACGG(A/C)AGGGA intron-variant
rs1509113 -- 10,695,292(-) TAAAG(G/T)ATTTT intron-variant
rs1802084 -- 10,680,450(-) TTCAG(C/T)GACAT utr-variant-3-prime
rs2040570 -- 10,680,799(-) CTGCG(A/G/T)ACAGG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv907682 CNV Gain 21882294
nsv833367 CNV Loss 17160897

Relevant External Links for SCO1 Gene

HapMap Linkage Disequilibrium report
SCO1
Human Gene Mutation Database (HGMD)
SCO1

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

Disorders for SCO1 Gene

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.

(1) University of Copenhagen DISEASES for SCO1 Gene

(4) Novoseek inferred disease relationships for SCO1 Gene

Disease -log(P) Hits PubMed IDs
cytochrome c oxidase deficiency 86.3 1
mitochondrial diseases 72.5 1
liver failure 40.7 1
alzheimers disease 12 3

Relevant External Links for SCO1

Genetic Association Database (GAD)
SCO1
Human Genome Epidemiology (HuGE) Navigator
SCO1
genes like me logo Genes that share disorders with SCO1: view

Publications for SCO1 Gene

  1. 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 23
  2. 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 23
  3. 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 23
  4. 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 23
  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

Products for SCO1 Gene

Sources for SCO1 Gene

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