Homo sapiens Gene: COX6B1
Summary
InnateDB Gene IDBG-44858.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COX6B1
Gene Name cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
Synonyms COX6B; COXG; COXVIb1
Species Homo sapiens
Ensembl Gene ENSG00000126267
Encoded Proteins
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:35648223-35658861
Strand Forward strand
Band q13.12
Transcripts
ENST00000246554 ENSP00000246554
ENST00000392201 ENSP00000376037
ENST00000592141 ENSP00000466818
ENST00000590618 ENSP00000467776
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004129 cytochrome-c oxidase activity
Biological Process
GO:0021762 substantia nigra development
GO:0022904 respiratory electron transport chain
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:1902600 hydrogen ion transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Respiratory electron transport pathway
Transmembrane transport of small molecules pathway
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
Orphan transporters pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
KEGG
Alzheimer's disease pathway
Oxidative phosphorylation pathway
Parkinson's disease pathway
Huntington's disease pathway
Cardiac muscle contraction pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001863
HUGO
OMIM
CCDS CCDS12469
HPRD 00493
IMGT
EMBL
GenPept
RNA Seq Atlas