Version 5.4
Homo sapiens Protein: COX14
Summary
InnateDB Protein IDBP-588122.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COX14
Protein Name chromosome 12 open reading frame 62
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000447776
InnateDB Gene IDBG-32425 (COX14)
Protein Structure
UniProt Annotation
Function Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires for coordination of the early steps of COX assembly with the synthesis of MT-CO1. {ECO:0000269PubMed:22243966, ECO:0000269PubMed:22356826}.
Subcellular Localization Mitochondrion membrane {ECO:0000269PubMed:22243966, ECO:0000269PubMed:22356826}; Single-pass membrane protein {ECO:0000269PubMed:22243966, ECO:0000269PubMed:22356826}.
Disease Associations Note=Defects in COX14 may be a cause of a mitochondrial disorder presenting with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. Other features include brain hypertrophy, diffuse alteration of the white-matter myelination, and numerous cavities in the parieto- occipital region, brainstem, and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal-gland hyperplasia. {ECO:0000269PubMed:22243966}.
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 4 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0033617 mitochondrial respiratory chain complex IV assembly
Cellular Component
GO:0005739 mitochondrion
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96I36
PhosphoSite PhosphoSite-Q96I36
TrEMBL
UniProt Splice Variant
Entrez Gene 84987
UniGene Hs.741707
RefSeq
HUGO HGNC:28216
OMIM 614478
CCDS CCDS8800
HPRD 17495
IMGT
EMBL AC025154 AC074032 AK312180 BC007849 CH471111
GenPept AAH07849 BAG35113 EAW58130

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca