COX6B1 (cytochrome c oxidase subunit 6B1)

2007-04-01  

Identity

HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
COX6B,COXG,COXVIb1,MC4DN7
FUSION GENES

Other Information

Locus ID:

NCBI: 1340
MIM: 124089
HGNC: 2280
Ensembl: ENSG00000126267

Variants:

dbSNP: 1340
ClinVar: 1340
TCGA: ENSG00000126267
COSMIC: COX6B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126267ENST00000392201P14854
ENSG00000126267ENST00000590618K7EQD3
ENSG00000126267ENST00000592141P14854
ENSG00000126267ENST00000649813P14854
ENSG00000126267ENST00000652250A0A494C160

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184990822008Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.48
198431592009Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.31
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
265772262015ATP generation in a host cell in early-phase infection is increased by upregulation of cytochrome c oxidase activity via the p2 peptide from human immunodeficiency virus type 1 Gag.3

Citation

Dessen P

COX6B1 (cytochrome c oxidase subunit 6B1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46642/cox6b1