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... See more...

Aliases for SCO1 Gene

Aliases for SCO1 Gene

  • Synthesis Of Cytochrome C Oxidase 1 2 3 5
  • SCO1, Cytochrome C Oxidase Assembly Protein 2 3
  • SCO Cytochrome C Oxidase Assembly Protein 1 2 3
  • Protein SCO1 Homolog, Mitochondrial 3 4
  • 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
  • MC4DN4 3
  • SCO1 5

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 (Synthesis Of Cytochrome C Oxidase 1) is a Protein Coding gene. Diseases associated with SCO1 include Mitochondrial Complex Iv Deficiency, Nuclear Type 4 and Mitochondrial Complex Iv Deficiency, Nuclear Type 1. Among its related pathways are TP53 Regulates Metabolic Genes 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 Summary for SCO1 Gene

  • Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Not required for the synthesis of MT-CO2/COX2 but plays a crucial role in stabilizing MT-CO2/COX2 during its subsequent maturation. Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478, PubMed:15229189). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity).

Gene Wiki entry for SCO1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCO1 Gene

Genomics for SCO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCO1

Top Transcription factor binding sites by QIAGEN in the SCO1 gene promoter:
  • AML1a
  • AREB6
  • CUTL1
  • E47
  • FOXL1
  • GATA-1
  • GATA-6
  • Hand1
  • HNF-3beta

Genomic Locations for SCO1 Gene

Latest Assembly
chr17:10,672,474-10,698,375
(GRCh38/hg38)
Size:
25,902 bases
Orientation:
Minus strand

Previous Assembly
chr17:10,575,791-10,600,850
(GRCh37/hg19 by Entrez Gene)
Size:
25,060 bases
Orientation:
Minus strand

chr17:10,583,654-10,601,692
(GRCh37/hg19 by Ensembl)
Size:
18,039 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, PubMed:15229189). Interacts with COA6 (PubMed:26160915). Found in a complex with TMEM177, COX20, COA6, MT-CO2/COX2, COX18 and SCO2 (PubMed:29154948). Interacts with TMEM177 in a COX20-dependent manner (PubMed:29154948). Interacts with COX20 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:29154948, PubMed:24403053, PubMed:28330871). Interacts with COX16 (PubMed:29381136).

    Three dimensional structures from OCA and Proteopedia for SCO1 Gene

neXtProt entry for SCO1 Gene

Post-translational modifications for SCO1 Gene

  • Ubiquitination at Lys89 and Lys133
  • Modification sites at PhosphoSitePlus

Other Protein References for SCO1 Gene

Antibodies for research

  • Boster Bio Antibodies for SCO1

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

Protein Domains for SCO1 Gene

InterPro:
Blocks:
  • Electron transport protein SCO1/SenC

Suggested Antigen Peptide Sequences for SCO1 Gene

GenScript: Design optimal peptide antigens:
  • Protein SCO1 homolog, mitochondrial (SCO1_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Not required for the synthesis of MT-CO2/COX2 but plays a crucial role in stabilizing MT-CO2/COX2 during its subsequent maturation. Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478, PubMed:15229189). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity).
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

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:0016531 copper chaperone activity IEA --
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 Models for SCO1 Gene

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

miRNA for SCO1 Gene

miRTarBase miRNAs that target SCO1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCO1

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

Localization for SCO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCO1 Gene

Mitochondrion. Mitochondrion inner membrane. Single-pass membrane protein.

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
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030016 myofibril IDA 20864674
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: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 IBA,IMP 15229189
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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276

(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

mRNA/cDNA for SCO1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCO1

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

Expression for SCO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SCO1 Gene



Protein tissue co-expression partners for SCO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Adrenal gland(4.4)
  • Liver(2.5)
  • Intestine(2.4)
  • Heart(2.3)
  • Kidney(2.3)
  • Muscle(2.3)

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

Primer products for research

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 29 30
  • 99.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCO1 29 30
  • 86.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCO1 29 30
  • 82.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sco1 29
  • 79.52 (n)
Mouse
(Mus musculus)
Mammalia Sco1 29 16 30
  • 79.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 69 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 65 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
Chicken
(Gallus gallus)
Aves SCO1 29 30
  • 75.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SCO1 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100494754 29
  • 68.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC796572 29
  • 60.94 (n)
SCO1 30
  • 51 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Scox 29 30
  • 56.98 (n)
OneToOne
CG8885 31
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008774 29
  • 54.06 (n)
Worm
(Caenorhabditis elegans)
Secernentea sco-1 29 30
  • 51.92 (n)
OneToOne
C01F1.2 31
  • 45 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03630g 29
  • 51.23 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCO1 29 30
  • 49.09 (n)
ManyToMany
SCO2 30 32
  • 29 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL191C 29
  • 46.47 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G08950 29
  • 52.12 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5491 29
Rice
(Oryza sativa)
Liliopsida Os02g0159700 29
  • 57.43 (n)
Os.8872 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4765 30
  • 52 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sco1 29
  • 51.28 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03177 29
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SCO1: view image
Alliance of Genome Resources:
Additional Orthologs for SCO1

Paralogs for SCO1 Gene

Paralogs for SCO1 Gene

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

  • SCO1_HUMAN
  • J3QL56_HUMAN
  • J3QR42_HUMAN

Pseudogenes.org Pseudogenes for SCO1 Gene

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

Variants for SCO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCO1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1015976 Uncertain Significance: not provided 10,697,442(-) G/C
NM_004589.4(SCO1):c.66C>G (p.Phe22Leu)
MISSENSE
1028271 Uncertain Significance: Mitochondrial complex IV deficiency 10,691,899(-) T/G
NM_004589.4(SCO1):c.628A>C (p.Lys210Gln)
MISSENSE
1028272 Pathogenic: Mitochondrial complex IV deficiency 10,681,190(-) G/A
NM_004589.4(SCO1):c.835C>T (p.Gln279Ter)
NONSENSE
1028273 Uncertain Significance: Mitochondrial complex IV deficiency 10,697,414(-) G/C
NM_004589.4(SCO1):c.94C>G (p.Pro32Ala)
MISSENSE
1034098 Pathogenic: Mitochondrial complex IV deficiency 10,697,244(-) C/CG
NM_004589.4(SCO1):c.263dup (p.Lys89fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SCO1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
SCO1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SCO1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SCO1 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

- 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:17182746, ECO:0000269 PubMed:17189203, ECO:0000269 PubMed:19336478}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SCO1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SCO1: view

No data available for Genatlas for SCO1 Gene

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 … Rötig A (American journal of human genetics 2000) 3 4 22 72
  2. Loss of function of Sco1 and its interaction with cytochrome c oxidase. (PMID: 19295170) Stiburek L … Zeman J (American journal of physiology. Cell physiology 2009) 3 22 72
  3. 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
  4. 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
  5. 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

Products for SCO1 Gene

Sources for SCO1 Gene