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SCO1 - synthesis of cytochrome C oxidase 1 Gene

Also Known as SCOD1; MC4DN4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6341

About SCO1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:10,672,474-10,697,533 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 11.6), kidney (RPKM 11.1) and 25 other tissues.

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 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]

SCO1 Products (1)

mRNA	Protein	Name
NM_004589.4	NP_004580.1	protein SCO1 homolog, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18458339	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: Inferred from mutant phenotype	15229189	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	15229189	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9878253	GOA
located in myofibril	IDA IDA: Inferred from direct assay	20864674	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SCO1 Protein Structure

SCO1-SenC

0
100
200
301 a.a.

Protein Preferred Names	Protein Names
protein SCO1 homolog, mitochondrial	SCO cytochrome c oxidase assembly protein 1

SCO1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SCO1	O75880	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
Intra	SCO1	O75880	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
Intra	SCO1	O75880	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	SCO1	O75880	COX17	Homo sapiens	Q14061	SLCA	18458339
Intra	SCO1	O75880	COX17	Homo sapiens	Q14061	BioID	29568061
Intra	SCO1	O75880	COX17	Homo sapiens	Q14061	NMR	18458339

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SCO1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71040	SCO1 Protein, Human (GST)	O75880 (G132-S301)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	MC4DN4 Mitochondrial Complex 4 Deficiency, Nuclear Type 4
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Metabolic Acidosis
Mitochondrial Dna Depletion Syndrome 9	MTDPS9 Fatal Infantile Lactic Acidosis Lactic Acidosis, Fatal Infantile, Formerly Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Type 9 Lactic Acidosis, Fatal Infantile
Menkes Disease	Copper Transport Disease Menkes Syndrome MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md Menkes Kinky Hair Syndrome Hypocupremia, Congenital Kinky Hair Syndrome X-Linked Copper Deficiency Menkes Kinky Hair Disease
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07320	Kit Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12556	SCO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19161	Sco1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25650	Sco1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SCO1	VGNC	VGNC:64932
Macaca mulatta	SCO1	VGNC	VGNC:76995
Rattus norvegicus	SCO1	RGD	RGD:1559538
Bos taurus	SCO1	VGNC	VGNC:34359
Canis familiaris	SCO1	VGNC	VGNC:45929
Mus musculus	SCO1	MGD	MGI:106362
Others	SCO1	NCBI