COX5A - cytochrome c oxidase subunit 5A Gene

Also Known as VA; COX; COX-VA; MC4DN20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9377

About COX5A

Cytogenetic location: 15q24.2 Genomic coordinates (GRCh38): 15:74,919,791-74,938,073 (from NCBI)

This gene has 6 transcripts (splice variants), 289 orthologues and is associated with 2 phenotypes. Broad expression in heart (RPKM 144.5), colon (RPKM 144.4) and 25 other tissues.

Summary

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

COX5A Products (1)

mRNA	Protein	Name
NM_004255.4	NP_004246.2	cytochrome c oxidase subunit 5A, mitochondrial precursor

Gene Ontology

Molecular Function
Cellular Component

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

Cellular Component GO Annotation	Evidence	Verweise	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	19393246	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	30030519	GOA
part of respiratory chain complex IV	IDA IDA: Inferred from direct assay	31536960	GOA
part of respiratory chain complex IV	IMP IMP: Inferred from mutant phenotype	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

COX5A Protein Structure

COX5A

0
100
150 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase subunit 5A, mitochondrial	cytochrome c oxidase polypeptide Va

COX5A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	COX5A	P20674	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	COX5A	P20674	KRT40	Homo sapiens	Q6A162	Y2H Array	25416956
Intra	COX5A	P20674	SPDEF	Homo sapiens	O95238	Y2H Prey Pooling	32296183
Intra	COX5A	P20674	SPDEF	Homo sapiens	O95238	Y2H Array	32296183
Intra	COX5A	P20674	EXOSC8	Homo sapiens	Q96B26	Validated Y2H	25416956
Intra	COX5A	P20674	MESD	Homo sapiens	Q14696	Validated Y2H	32296183
Intra	COX5A	P20674	MESD	Homo sapiens	Q14696	Y2H Array	32296183
Intra	COX5A	P20674	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

COX5A Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P86820	COX5A Antibody (YA6513)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	MC4DN20 Mitochondrial Complex 4 Deficiency, Nuclear Type 20 Mitochondrial Complex Iv Deficiency, Nuclear, Type 20
Isolated Cytochrome C Oxidase Deficiency	Isolated Cox Deficiency Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
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
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
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 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
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Inclusion Body Myositis	Ibm Sporadic Inclusion Body Myositis Inflammatory Myopathy Myositis, Inclusion Body Inflammatory Myopathies Sibm Myositis Inclusion Body Nonaka Myopathy Inclusion Body Myopathy, Autosomal Recessive Inclusion Body Myopathy, Autosomal Dominant Myositis Inclusion Body Myopathy, Sporadic
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Myoglobinuria, Recurrent	Myoglobinuria Recurrent Recurrent Myoglobinuria Mitochondrial RM-MT
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Myoglobinuria
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Metabolic Acidosis
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
Myopathy	Muscular Diseases Myopathies
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
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

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03066	COX5A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19670	Cox5a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26163	Cox5a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	COX5A	VGNC	VGNC:84327
Bos taurus	COX5A	VGNC	VGNC:27636
Rattus norvegicus	COX5A	RGD	RGD:620607
Mus musculus	COX5A	MGD	MGI:88474
Others	COX5A	NCBI