ENSG00000168275


Homo sapiens

Features
Gene ID: ENSG00000168275
  
Biological name :COA6
  
Synonyms : COA6 / cytochrome c oxidase assembly factor 6 / Q5JTJ3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q42.2
Gene start: 234373456
Gene end: 234384049
  
Corresponding Affymetrix probe sets: 225638_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355571
Ensembl peptide - ENSP00000355572
Ensembl peptide - ENSP00000355574
Ensembl peptide - ENSP00000479686
NCBI entrez gene - 388753     See in Manteia.
OMIM - 614772
RefSeq - NM_001206641
RefSeq - NM_001012985
RefSeq - NM_001301733
RefSeq Peptide - NP_001013003
RefSeq Peptide - NP_001193570
RefSeq Peptide - NP_001288662
swissprot - Q5JTJ3
swissprot - X6R5Z6
Ensembl - ENSG00000168275
  
Related genetic diseases (OMIM): 616501 - Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 coa6ENSDARG00000092677Danio rerio
 COA6ENSGALG00000030590Gallus gallus
 Coa6ENSMUSG00000051671Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003213  Cytochrome c oxidase, subunit VIb
 IPR036549  Cytochrome c oxidase, subunit VIb superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008535 respiratory chain complex IV assembly IMP
 biological_processGO:0042774 plasma membrane ATP synthesis coupled electron transport IMP
 cellular_componentGO:0005739 mitochondrion ISS
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005886 plasma membrane IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005507 copper ion binding IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Mitochondrial protein import


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000331 Small chin 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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 HP:0030682 Left ventricular noncompaction "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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