Gene Gene information from NCBI Gene database.
Entrez ID 6341
Gene name Synthesis of cytochrome C oxidase 1
Gene symbol SCO1
Synonyms (NCBI Gene)
MC4DN4SCOD1
Chromosome 17
Chromosome location 17p13.1
Summary 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 cytoch
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs104894630 G>A Pathogenic Missense variant, coding sequence variant
rs587777220 C>T Pathogenic Coding sequence variant, missense variant
rs766454175 A>- Pathogenic Coding sequence variant, frameshift variant
rs774730754 C>G,T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
356
miRTarBase ID miRNA Experiments Reference
MIRT041476 hsa-miR-193b-3p CLASH 23622248
MIRT696298 hsa-miR-942-3p HITS-CLIP 23313552
MIRT696297 hsa-miR-3190-5p HITS-CLIP 23313552
MIRT696296 hsa-miR-3926 HITS-CLIP 23313552
MIRT696295 hsa-miR-548s HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005507 Function Copper ion binding IEA
GO:0005515 Function Protein binding IPI 18458339, 24403053, 26160915, 28330871, 29154948, 29381136, 29568061, 32296183, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 9878253
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603644 10603 ENSG00000133028
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75880
Protein name Protein SCO1 homolog, mitochondrial
Protein 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 i
PDB 1WP0 , 2GGT , 2GQK , 2GQL , 2GQM , 2GT5 , 2GT6 , 2GVP , 2HRF , 2HRN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02630 SCO1-SenC 137 273 SCO1/SenC Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. {ECO:0000269|PubMed:9878253}.
Sequence
MAMLVLVPGRVMRPLGGQLWRFLPRGLEFWGPAEGTARVLLRQFCARQAEAWRASGRPGY
CLGTRPLSTARPPPPWSQKGPGDSTRPSKPGPVSWKSLAITFAIGGALLAGMKHVKKEKA
EKLEKERQRHIGKPLLGGPFSLTTHTGERKTDKDYLGQWLLIYFGFTHCPDVCPEELEKM
IQVVDEIDSITTLPDLTPLFISIDPERDTKEAIANYVKEFSPKLVGLTGTREEVDQVARA
YRVYYSPGPKDEDEDYIVDHTIIMYLIGPDGEF
LDYFGQNKRKGEIAASIATHMRPYRKK
S
Sequence length 301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial complex IV deficiency, nuclear type 1 Pathogenic rs1176555010 RCV001336710
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex IV deficiency, nuclear type 4 Pathogenic; Likely pathogenic rs587777220, rs587776629, rs104894630, rs766454175, rs770131276 RCV000106300
RCV000006554
RCV000006555
RCV004800369
RCV001536014
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Fanconi syndrome Fanconi syndrome HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 1672728, 8100139
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 11013136, 19295170 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Cardioencephalomyopathy ORPHANET_DG 11013136, 19295170, 23878101
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 25792727
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 28330871 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 19295170 Associate
★☆☆☆☆
Found in Text Mining only