COA6 - cytochrome c oxidase assembly factor 6 Gene

Also Known as C1orf31; CEMCOX4; MC4DN13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 388753

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
Molecular Function GO Annotation Evidence Verweise 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 Verweise 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 Verweise 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 Verweise
Intra
COA6 Q5JTJ3 CABP2 Homo sapiens Q9NPB3 32296183
Intra
COA6 Q5JTJ3 DTX2 Homo sapiens Q86UW9 32296183
Intra
COA6 Q5JTJ3 TTC19 Homo sapiens Q6DKK2 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