COX15 - cytochrome c oxidase assembly homolog COX15 Gene

Also Known as MC4DN6; CEMCOX2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1355

About COX15

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,694,293-99,732,127 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 6.2), kidney (RPKM 6.1) 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 essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

COX15 Products (10)

mRNA	Protein	Name
NM_001320974.2	NP_001307903.1	cytochrome c oxidase assembly protein COX15 homolog isoform 2
NM_001320975.2	NP_001307904.1	cytochrome c oxidase assembly protein COX15 homolog isoform 3
NM_001320976.2	NP_001307905.1	cytochrome c oxidase assembly protein COX15 homolog isoform 4
NM_001372024.1	NP_001358953.1	cytochrome c oxidase assembly protein COX15 homolog isoform 5
NM_001372025.1	NP_001358954.1	cytochrome c oxidase assembly protein COX15 homolog isoform 6
NM_001372026.1	NP_001358955.1	cytochrome c oxidase assembly protein COX15 homolog isoform 7
NM_001372027.1	NP_001358956.1	cytochrome c oxidase assembly protein COX15 homolog isoform 8
NM_001372028.1	NP_001358957.1	cytochrome c oxidase assembly protein COX15 homolog isoform 3
NM_004376.7	NP_004367.2	cytochrome c oxidase assembly protein COX15 homolog isoform 2
NM_078470.6	NP_510870.1	cytochrome c oxidase assembly protein COX15 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables oxidoreductase activity, acting on the CH-CH group of donors	IMP IMP: Inferred from mutant phenotype	12474143	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	29128334	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytochrome complex assembly	IMP IMP: Inferred from mutant phenotype	12474143	GOA
involved in heme A biosynthetic process	IGI IGI: Inferred from genetic interaction	12474143	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of cytochrome complex	IDA IDA: Inferred from direct assay	12474143	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9878253	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

COX15 Protein Structure

COX15-CtaA

0
100
200
300
410 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase assembly protein COX15 homolog	COX15 homolog, cytochrome c oxidase assembly protein

COX15 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COX15	Q7KZN9	PRDX6	Homo sapiens	P30041	Anti Bait CoIP	29128334
Intra	COX15	Q7KZN9	PRDX6	Homo sapiens	P30041	Crosslink	29128334

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2 MC4DN6 Cemcox2 Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 2 Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency, Type 2
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
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
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
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
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
Charcot-Marie-Tooth Disease, Type 4k	Charcot-Marie-Tooth Disease Type 4k CMT4K Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k Surf1-Related Charcot-Marie-Tooth Disease Type 4 Surf1-Related Cmt4 Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k Charcot-Marie-Tooth Disease 4k Charcot-Marie-Tooth Disease, Demyelinating, Type 4k Charcot-Marie-Tooth Neuropathy, Type 4k
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
Neuropathy, Ataxia, And Retinitis Pigmentosa	Narp Syndrome NARP Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome Neuropathy, Ataxia And Retinitis Pigmentosa Neuropathy Ataxia Retinitis Pigmentosa Syndrome Neuropathy, Ataxia, And Retinitis Pigmentos Neuropathy Ataxia And Retinitis Pigmentosa Neuropathy, Ataxia, Retinitis Pigmentosa Neuropathy Ataxia And Retinis Pigmentosa Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03059	COX15 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COX15	MGD	MGI:1920112
Felis catus	COX15	VGNC	VGNC:81195
Macaca mulatta	COX15	VGNC	VGNC:81183
Canis familiaris	COX15	VGNC	VGNC:39535
Bos taurus	COX15	VGNC	VGNC:27629
Rattus norvegicus	COX15	RGD	RGD:1312043
Others	COX15	NCBI