COA5 - cytochrome c oxidase assembly factor 5 Gene

Also Known as MC4DN9; Pet191; C2orf64; CEMCOX3; 6330578E17Rik

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 493753

About COA5

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,599,314-98,608,512 (from NCBI)

This gene has 5 transcripts (splice variants), 176 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 12.5), kidney (RPKM 12.0) and 25 other tissues.

Summary

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

COA5 Products (1)

mRNA	Protein	Name
NM_001008215.3	NP_001008216.1	cytochrome c oxidase assembly factor 5

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

COA5 Protein Structure

Pet191_N

0
74 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase assembly factor 5	protein C2orf64

COA5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COA5	Q86WW8	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Prey Pooling	32296183
Intra	COA5	Q86WW8	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Array	32296183
Intra	COA5	Q86WW8	TCF4	Homo sapiens	P15884-3	Y2H Prey Pooling	32296183
Intra	COA5	Q86WW8	TCF4	Homo sapiens	P15884-3	Y2H Array	32296183
Intra	COA5	Q86WW8	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	COA5	Q86WW8	CYSRT1	Homo sapiens	A8MQ03	Validated Y2H	32296183
Intra	COA5	Q86WW8	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	COA5	Q86WW8	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	25416956
Intra	COA5	Q86WW8	KRT31	Homo sapiens	Q15323	Validated Y2H	25416956
Intra	COA5	Q86WW8	KRT31	Homo sapiens	Q15323	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 3 MC4DN9 Cemcox3 Mitochondrial Complex Iv, Deficiency, Nuclear Type 9 Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 3
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
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
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
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
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
Mitochondrial Complex Ii Deficiency	Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency Isolated Succinate-Coenzyme Q Reductase Deficiency Isolated Succinate-Coq Reductase Deficiency Isolated Succinate-Ubiquinone Reductase Deficiency Mitochondrial Respiratory Chain Complex Ii Deficiency Complex 2 Mitochondrial Respiratory Chain Deficiency Succinate Coq Reductase Deficiency Succinate Dehydrogenase Deficiency Isolated Succinate Dehydrogenase Deficiency Succinate-Coenzyme Q Reductase Deficiency
Myopathy	Muscular Diseases Myopathies
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

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 (55)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-CE00277	(5Z)-3-Oxotetradecenoyl-CoA		/	Unkown
HY-CE00294	(5Z)-Dodecenoyl-CoA		/	Unkown
HY-CE00303	(5Z)-Icosenoyl-CoA		/	Unkown
HY-CE00308	(5Z,11E)-Octadecadienoyl-CoA		/	Unkown
HY-CE00312	(5Z,11Z,14Z)-Icosatrienoyl-CoA		/	Unkown
HY-CE00319	(5Z,11Z,14Z,17Z)-Icosatetraenoyl-CoA		/	Unkown
HY-CE00322	(5Z,8Z,11Z,14Z,17Z)-Icosapentaenoyl-CoA		/	Unkown
HY-CE01384	5-Oxo-furan-2-acetyl-CoA		/	Unkown
HY-CE01385	5-Oxohexanoyl-CoA		/	Unkown
HY-CE01386	5-Oxooctanoyl-CoA		/	Unkown
HY-CE01391	5Z,8Z,11Z-Eicosatrienoyl-CoA		/	Unkown
HY-CE01483	5-Carboxy-2-pentenoyl-CoA		/	Unkown
HY-CE01484	5-Hete-CoA		/	Unkown
HY-CE01487	5-Hydroxy-norvaline-CoA		/	Unkown
HY-CE01492	5-Hydroxydecanedioyl-CoA		/	Unkown
HY-CE01494	5-Hydroxydecanoyl-CoA		/	Unkown
HY-CE01496	5-Hydroxydodecanedioyl-CoA		/	Unkown
HY-CE01498	5-Hydroxydodecanoyl-CoA		/	Unkown
HY-CE01499	5-Hydroxypentadecanoyl-CoA		/	Unkown
HY-CE01500	5-Hydroxypentanoyl-CoA		/	Unkown
HY-CE01501	5-Hydroxytetradecanedioyl-CoA		/	Unkown
HY-CE01502	5-Hydroxyundecanoyl-CoA		/	Unkown
HY-CE01504	5-Methyl-3-oxo-4-hexenoyl-CoA		/	Unkown
HY-CE01505	5-Methylhexadecanoyl-CoA		/	Unkown
HY-CE01508	5-Methyldecanoyl-CoA		/	Unkown
HY-CE01509	5-Methyldocosanoyl-CoA		/	Unkown
HY-CE01511	5-Methyldodecanoyl-CoA		/	Unkown
HY-CE01512	5-Methylhenicosanoyl-CoA		/	Unkown
HY-CE01513	5-Methylheptadecanoyl-CoA		/	Unkown
HY-CE01514	5-Methylheptanoyl-CoA		/	Unkown
HY-CE01515	5-Methylhex-4-enoyl-CoA		/	Unkown
HY-CE01517	5-Methylicosanoyl-CoA		/	Unkown
HY-CE01519	5-Methylnonanoyl-CoA		/	Unkown
HY-CE01521	5-Methyloctadecanoyl-CoA		/	Unkown
HY-CE01522	5-Methyloctanoyl-CoA		/	Unkown
HY-CE01524	5-Methylpentacosanoyl-CoA		/	Unkown
HY-CE01525	5-Methylpentadecanoyl-CoA		/	Unkown
HY-CE01527	5-Methyltetracosanoyl-CoA		/	Unkown
HY-CE01529	5-Methyltricosanoyl-CoA		/	Unkown
HY-CE01531	5-Methyltridecanoyl-CoA		/	Unkown
HY-CE01533	5-Methylundecanoyl-CoA		/	Unkown
HY-CE01535	5-Oxo-4,5-dihydrothiophene-2-carboxyl-CoA		/	Unkown
HY-CE01536	5-Oxo-L-norleucine-CoA		/	Unkown
HY-CE01537	5-Oxodecanoyl-CoA		/	Unkown
HY-CE01538	5-Oxononanoyl-CoA		/	Unkown
HY-CE01539	5-Phenyl-trans-2,trans-4-pentadienoyl-CoA		/	Unkown
HY-CE01549	5-Hydroxy-2-propylpentanoyl-CoA		/	Unkown
HY-CE01551	5-Hydroxyheptanoyl-CoA		/	Unkown
HY-CE01553	5-Hydroxyhexadecanedioyl-CoA		/	Unkown
HY-CE01554	5-Hydroxyhexadecanoyl-CoA		/	Unkown
HY-CE01555	5-Hydroxyoctadecanoyl-CoA		/	Unkown
HY-CE01556	5-Hydroxyoctanoyl-CoA		/	Unkown
HY-CE01557	5-Methylhexanoyl-CoA		/	Unkown
HY-CE01956	cis-Tetradec-5-enoyl-CoA		/	Unkown
HY-RS02942	COA5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	COA5	VGNC	VGNC:39443
Rattus norvegicus	COA5	RGD	RGD:1565095
Mus musculus	COA5	MGD	MGI:1923428
Bos taurus	COA5	VGNC	VGNC:27544
Felis catus	COA5	VGNC	VGNC:61043