Version 5.4
Homo sapiens Protein: BBOX1
Summary
InnateDB Protein IDBP-590255.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBOX1
Protein Name butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Synonyms BBH; BBOX; G-BBH; gamma-BBH;
Species Homo sapiens
Ensembl Protein ENSP00000433772
InnateDB Gene IDBG-36522 (BBOX1)
Protein Structure
UniProt Annotation
Function Catalyzes the formation of L-carnitine from gamma- butyrobetaine.
Subcellular Localization Cytoplasm.
Disease Associations
Tissue Specificity Highly expressed in kidney; moderately expressed in liver; very low expression in brain.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0008270 zinc ion binding
GO:0008336 gamma-butyrobetaine dioxygenase activity
GO:0016491 oxidoreductase activity
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
Biological Process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0045329 carnitine biosynthetic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR003819 Taurine catabolism dioxygenase TauD/TfdA
IPR010376 Domain of unknown function, DUF971
IPR012775 Gamma-butyrobetaine,2-oxoglutarate dioxygenase
PFAM PF02668
PF06155
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O75936
PhosphoSite PhosphoSite-O75936
TrEMBL Q1KLS6
UniProt Splice Variant
Entrez Gene 8424
UniGene Hs.591996
RefSeq
HUGO HGNC:964
OMIM 603312
CCDS CCDS7862
HPRD 04498
IMGT
EMBL AC015756 AC016450 AF082868 AK313422 BC011034 CH471064 CR456812 DQ471856 DQ471857 DQ471858 DQ471859 DQ471860 DQ471862 DQ471863 DQ471864 DQ471865 DQ471866 DQ471867 DQ471868
GenPept AAC64066 AAH11034 ABF17859 ABF17860 ABF17861 ABF17862 ABF17863 ABF17865 ABF17866 ABF17867 ABF17868 ABF17869 ABF17870 ABF17871 BAG36214 CAG33093 EAW68290 EAW68291

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