InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COX6B1

Summary

InnateDB Protein

IDBP-44860.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COX6B1

Protein Name

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)

Synonyms

COX6B; COXG; COXVIb1;

Species

Homo sapiens

Ensembl Protein

ENSP00000246554

InnateDB Gene

IDBG-44858 (COX6B1)

Protein Structure

UniProt Annotation

Function

Connects the two COX monomers into the physiological dimeric form. {ECO:0000250}.

Subcellular Localization

Mitochondrion intermembrane space {ECO:0000250}.

Disease Associations

Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269PubMed:18499082}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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