1. Gene
  2. COA6 - cytochrome c oxidase assembly factor 6 Gene

COA6 - cytochrome c oxidase assembly factor 6 Gene

Homo sapiens

Also known as C1orf31; CEMCOX4; MC4DN13

Gene ID: 388753 | Gene type: protein coding

About COA6

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:234,373,456-234,385,080 (from NCBI)

This gene has 4 transcripts (splice variants), 190 orthologues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 9.1), colon (RPKM 8.2) and 25 other tissues.

Summary

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

COA6 Products(3)

mRNA Protein Name
NM_001012985.2 NP_001013003.1 cytochrome c oxidase assembly factor 6 homolog isoform 1
NM_001206641.3 NP_001193570.2 cytochrome c oxidase assembly factor 6 homolog isoform 2
NM_001301733.1 NP_001288662.1 cytochrome c oxidase assembly factor 6 homolog isoform 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables copper ion binding IDA
IDA: Inferred from direct assay
26160915 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25959673 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mitochondrial ATP synthesis coupled electron transport IMP
IMP: Inferred from mutant phenotype
24549041 GOA
involved in plasma membrane ATP synthesis coupled electron transport IMP
IMP: Inferred from mutant phenotype
26160915 GOA
involved in respiratory chain complex IV assembly IDA
IDA: Inferred from direct assay
25959673 GOA
involved in respiratory chain complex IV assembly IMP
IMP: Inferred from mutant phenotype
24549041 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
25339201 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

COA6 Protein Structure

COX6B

COX6B: Cytochrome oxidase c subunit VIb (49 - 107)

  • 0
  • 100
  • 125 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly factor 6 homolog

COA6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
COA6 Q5JTJ3 CABP2 Homo sapiens Q9NPB3
Validated Y2H
32296183
Intra
COA6 Q5JTJ3 DTX2 Homo sapiens Q86UW9
Validated Y2H
32296183
Intra
COA6 Q5JTJ3 TTC19 Homo sapiens Q6DKK2
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4

MC4DN13

Cemcox4

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 4

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency, 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

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

Crouzon Syndrome With Acanthosis Nigricans

Crouzon Syndrome-Acanthosis Nigricans Syndrome

CAN

Crouzonodermoskeletal Syndrome

Crouzon-Dermoskeletal Syndrome

Crouzon, With Acanthosis Nigricans Syndrome

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

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

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

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta COA6 VGNC VGNC:71200
Mus musculus COA6 MGD MGI:1915142
Canis familiaris COA6 VGNC VGNC:39444
Rattus norvegicus COA6 RGD RGD:7559315
Others COA6 NCBI