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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
  • 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (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

Additional gene information for SCO1 Gene

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

Genomics for SCO1 Gene

GeneHancer (GH) Regulatory Elements for SCO1 Gene

Promoters and enhancers for SCO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I010695 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 136 5.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B E2F8 ZNF143 ADPRM SCO1 ENSG00000261433 MYH3 TMEM220
GH17I010793 Enhancer 1.2 Ensembl ENCODE dbSUPER 20 -100.8 -100758 11.7 PKNOX1 CLOCK NFIB ZSCAN4 NEUROD1 YY1 FOS EGR2 RXRA GATAD2B ADPRM SCO1 ENSG00000261433 PIRT MAGOH2P MYH3 TMEM220-AS1 ENSG00000263508 TMEM238L ENSG00000266114
GH17I010789 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.4 -93.0 -92958 3.7 SMAD1 TAF9B RAD21 YY1 POLR2B SCRT2 SMAD5 RXRA GTF2B NR2F2 ENSG00000266114 ADPRM SCO1 RNU6-1065P RPL15P21 MYH3 ENSG00000263508 TMEM220-AS1 GC17M010779
GH17I010736 Enhancer 1 ENCODE dbSUPER 11.5 -40.0 -39983 3.7 ELF3 FOXA2 KLF17 THRB RAD21 RARA YY1 ZNF366 ZNF143 ZNF654 TMEM220 RNU6-1065P RPL15P21 SCO1 ADPRM MYH3 TMEM220-AS1 ENSG00000264016 ENSG00000240813
GH17I010745 Enhancer 0.8 ENCODE dbSUPER 11.3 -46.8 -46779 1.8 SOX13 FOXA2 RXRA ZNF384 ZNF512 HNF4G CREB1 TCF7 HNF4A NR2F6 ENSG00000240813 ADPRM SCO1 MYH3 ENSG00000264016 TMEM220-AS1 TMEM220
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCO1 gene promoter:

Genomic Locations for SCO1 Gene

Genomic Locations for SCO1 Gene
chr17:10,672,474-10,698,375
(GRCh38/hg38)
Size:
25,902 bases
Orientation:
Minus strand
chr17:10,583,649-10,601,692
(GRCh37/hg19)

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 posLast=8989 and isoforms=133
  • Modification sites at PhosphoSitePlus

Other Protein References for SCO1 Gene

No data available for DME Specific Peptides for SCO1 Gene

Domains & Families for SCO1 Gene

Gene Families for SCO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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.

Phenotypes From GWAS Catalog for SCO1 Gene

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 18458339
GO:0046872 metal ion binding IEA --
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

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCO1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
peroxisome 1
cytosol 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
GO:0072492 host cell mitochondrial intermembrane space IDA 25339201
genes like me logo Genes that share ontologies with SCO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCO1 Gene

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 TAS 9878253
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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202

(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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for SCO1 Gene

  • Nervous system(4.5)
  • Adrenal gland(4.4)
  • Liver(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCO1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SCO1: view

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 33 34
  • 99.11 (n)
cow
(Bos Taurus)
Mammalia SCO1 33 34
  • 86.6 (n)
dog
(Canis familiaris)
Mammalia SCO1 33 34
  • 82.77 (n)
rat
(Rattus norvegicus)
Mammalia Sco1 33
  • 79.52 (n)
mouse
(Mus musculus)
Mammalia Sco1 33 16 34
  • 79.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 69 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves SCO1 33 34
  • 75.39 (n)
lizard
(Anolis carolinensis)
Reptilia SCO1 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494754 33
  • 68.96 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC796572 33
  • 60.94 (n)
SCO1 34
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scox 33 34
  • 56.98 (n)
CG8885 35
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008774 33
  • 54.06 (n)
worm
(Caenorhabditis elegans)
Secernentea sco-1 33 34
  • 51.92 (n)
C01F1.2 35
  • 45 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03630g 33
  • 51.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCO1 33 34
  • 49.09 (n)
SCO2 34 36
  • 29 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL191C 33
  • 46.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08950 33
  • 52.12 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5491 33
rice
(Oryza sativa)
Liliopsida Os02g0159700 33
  • 57.43 (n)
Os.8872 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4765 34
  • 52 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sco1 33
  • 51.28 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03177 33
  • 48.1 (n)
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 Variation AA Info Type
rs104894630 pathogenic, Cytochrome-c oxidase deficiency, Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] 10,692,805(-) G/A coding_sequence_variant, missense_variant
rs111708860 uncertain-significance, not specified, Leigh syndrome, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, Cytochrome-c oxidase deficiency 10,681,238(-) T/C coding_sequence_variant, missense_variant
rs11538237 benign, likely-benign, not specified, Cytochrome-c oxidase deficiency, Leigh syndrome, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 10,695,808(-) T/C 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs139771078 uncertain-significance, Cytochrome-c oxidase deficiency, Leigh syndrome, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 10,681,157(-) T/A/C coding_sequence_variant, missense_variant
rs141066877 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, Cytochrome-c oxidase deficiency, Leigh syndrome 10,686,809(-) G/A coding_sequence_variant, missense_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)

Additional Variant Information for SCO1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SCO1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
fatal infantile cytochrome c oxidase deficiency
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
cardioencephalomyopathy
alzheimer disease mitochondrial
  • alzheimer disease, susceptibility to, mitochondrial
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
- 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, ECO:0000269 PubMed:17189203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SCO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SC … Shoubridge EA (Cell metabolism 2007) 3 4 22 58
  2. Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein. (PMID: 15659396) Williams JC … Schon EA (The Journal of biological chemistry 2005) 3 4 22 58
  3. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. (PMID: 11027508) Horvath R … Jaksch M (Biochemical and biophysical research communications 2000) 3 4 22 58
  4. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. (PMID: 11013136) Valnot I … Rötig A (American journal of human genetics 2000) 3 4 22 58
  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 58

Products for SCO1 Gene

Sources for SCO1 Gene

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