COX17 - cytochrome c oxidase copper chaperone COX17 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10063

About COX17

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:119,663,975-119,677,406 (from NCBI)

This gene has 7 transcripts (splice variants) and 105 orthologues. Ubiquitous expression in heart (RPKM 52.4), adrenal (RPKM 37.4) and 25 other tissues.

Summary

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]

COX17 Products (3)

mRNA	Protein	Name
NM_001382002.1	NP_001368931.1	cytochrome c oxidase copper chaperone isoform a
NM_001382003.1	NP_001368932.1	cytochrome c oxidase copper chaperone isoform b
NM_005694.2	NP_005685.1	cytochrome c oxidase copper chaperone isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables copper chaperone activity	IMP IMP: Inferred from mutant phenotype	19393246	GOA
enables cuprous ion binding	IDA IDA: Inferred from direct assay	18093982	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: Inferred from mutant phenotype	19393246	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	19393246	GOA
involved in positive regulation of cytochrome-c oxidase activity	IMP IMP: Inferred from mutant phenotype	19393246	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19393246	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	19393246	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

COX17 Protein Structure

COX17

0
63 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase copper chaperone	COX17 cytochrome c oxidase assembly homolog

COX17 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COX17	Q14061	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	COX17	Q14061	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	COX17	Q14061	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	COX17	Q14061	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	COX17	Q14061	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	COX17	Q14061	KATNAL1	Homo sapiens	Q9BW62	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Spinal Muscular Atrophy, Distal, X-Linked 3	SMAX3 Dsmax X-Linked Distal Spinal Muscular Atrophy Type 3 X-Linked Distal Spinal Muscular Atrophy 3 Atp7a-Related Distal Motor Neuropathy X-Linked Dhmn3 X-Linked Distal Hereditary Motor Neuropathy Type 3 X-Linked Dsma3 Spinal Muscular Atrophy, Distal, X-Linked Recessive X-Linked Recessive Distal Spinal Muscular Atrophy Distal Spinal Muscular Atrophy, X-Linked, 3 DSMAX3 Spinal Muscular Atrophy Distal X-Linked Recessive Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
Occipital Horn Syndrome	OHS Eds Ix Cutis Laxa X-Linked Cutis Laxa, X-Linked Cutis Laxa, X-Linked, Formerly Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly Eds Ix, Formerly Eds9, Formerly Ehlers-Danlos Syndrome Type 9 Ehlers-Danlos Syndrome Type Ix X-Linked Cutis Laxa Ehlers-Danlos Syndrome, Occipital Horn Type Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Wilson Disease	Hepatolenticular Degeneration WD Wilson'S Disease WND Westphal-Strumpell Syndrome Copper Storage Disease Cerebral Pseudosclerosis Westphal Pseudosclerosis Hepatolenticular Degeneration Syndrome Copper Retention Hepatocerebral Degeneration Kinnier-Wilson Disease Neurohepatic Degeneration Progressive Hepatolenticular Degeneration Lenticular Degenerative Disease Wilson'S Syndrome Lenticular Syndrome
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
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
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
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
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03060	COX17 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20892	Cox17 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27409	Cox17 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COX17	RGD	RGD:620548
Felis catus	COX17	VGNC	VGNC:61107
Canis familiaris	COX17	VGNC	VGNC:39536
Mus musculus	COX17	MGD	MGI:1333806
Macaca mulatta	COX17	VGNC	VGNC:84193
Bos taurus	COX17	VGNC	VGNC:27631
Others	COX17	NCBI