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Aliases for SCO1 Gene

Aliases for SCO1 Gene

  • SCO1 Cytochrome C Oxidase Assembly Protein 2 3 5
  • 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

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 Gene Expression and Metabolism. 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

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

Proteomics data for SCO1 Gene at MOPED

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:

Antibody Products

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.
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 Models for SCO1 Gene

MGI Knock Outs for SCO1:
  • Sco1 tm1a(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for SCO1

miRNA for SCO1 Gene

miRTarBase miRNAs that target SCO1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
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:0006825 copper ion transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Pharma 158

(2) 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:

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, 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 expression patterns with SCO1: view

Protein tissue co-expression partners for SCO1 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia SCO1 35
  • 99.11 (n)
  • 98.67 (a)
SCO1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sco1 35
  • 79.52 (n)
  • 75 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
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
fruit fly
(Drosophila melanogaster)
Insecta CG8885 37
  • 54 (a)
Scox 35
  • 56.98 (n)
  • 54.19 (a)
Scox 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008774 35
  • 54.06 (n)
  • 51.68 (a)
worm
(Caenorhabditis elegans)
Secernentea C01F1.2 37
  • 45 (a)
sco-1 35
  • 51.92 (n)
  • 45.67 (a)
sco-1 36
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL191C 35
  • 46.47 (n)
  • 38.92 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03630g 35
  • 51.23 (n)
  • 40.39 (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
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08950 35
  • 52.12 (n)
  • 43.18 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5491 35
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

(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
VAR_012109 Mitochondrial complex IV deficiency (MT-C4D)
VAR_014537 -
rs1509112 -- 10,695,317(-) CACGG(A/C)AGGGA intron-variant
rs1509113 -- 10,695,292(-) TAAAG(G/T)ATTTT intron-variant
rs2136274 -- 10,688,475(-) TTTAA(C/T)TTTAG intron-variant

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

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

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

MalaCards: The human disease database

(9) 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 cardioencephalomyopathy due to cytochrome c oxidase 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. 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 67
  2. Loss of function of Sco1 and its interaction with cytochrome c oxidase. (PMID: 19295170) Stiburek L. … Zeman J. (Am. J. Physiol., Cell Physiol. 2009) 3 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for SCO1 Gene

Sources for SCO1 Gene

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