NameGamma-butyrobetaine dioxygenase
Synonyms
  • 1.14.11.1
  • BBH
  • BBOX
  • Gamma-BBH
  • Gamma-butyrobetaine hydroxylase
  • Gamma-butyrobetaine,2-oxoglutarate dioxygenase
Gene NameBBOX1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0011587|Gamma-butyrobetaine dioxygenase
MACTIQKAEALDGAHLMQILWYDEEESLYPAVWLRDNCPCSDCYLDSAKARKLLVEALDV
NIGIKGLIFDRKKVYITWPDEHYSEFQADWLKKRCFSKQARAKLQRELFFPECQYWGSEL
QLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHT
WQVQDKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQK
LKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSKHKIIELDDKGQVVRINFNNATRDTIF
DVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISR
HLEGAYADWDVVMSRLRILRQRVENGN
Number of residues387
Molecular Weight44714.6
Theoretical pI6.73
GO Classification
Functions
  • iron ion binding
  • zinc ion binding
  • gamma-butyrobetaine dioxygenase activity
Processes
  • cellular nitrogen compound metabolic process
  • small molecule metabolic process
  • branched-chain amino acid catabolic process
  • carnitine biosynthetic process
Components
  • mitochondrion
  • cytosol
  • extracellular exosome
General FunctionZinc ion binding
Specific FunctionCatalyzes the formation of L-carnitine from gamma-butyrobetaine.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID3746805
UniProtKB IDO75936
UniProtKB Entry NameBODG_HUMAN
Cellular LocationCytoplasm
Gene sequence
>lcl|BSEQ0011588|Gamma-butyrobetaine dioxygenase (BBOX1)
ATGGCTTGTACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGATCCTC
TGGTATGATGAGGAAGAGTCTCTCTACCCAGCTGTATGGTTGAGAGACAACTGTCCGTGC
TCTGATTGCTACCTGGATTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTG
AACATTGGAATTAAAGGCTTGATATTTGACAGAAAAAAGGTGTACATCACATGGCCCGAT
GAGCATTACAGTGAATTCCAGGCTGATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCC
AGAGCAAAGCTCCAAAGAGAATTGTTTTTTCCAGAATGCCAATACTGGGGCTCAGAGCTC
CAGCTACCCACTTTGGATTTTGAAGATGTTTTAAGATATGATGAACACGCATACAAGTGG
CTCTCCACCCTCAAGAAAGTAGGCATAGTAAGACTCACCGGAGCATCTGACAAACCAGGA
GAAGTTTCAAAACTTGGGAAAAGGATGGGTTTCCTCTATCTCACATTTTATGGACATACT
TGGCAAGTGCAAGACAAAATCGATGCAAACAATGTGGCTTACACAACTGGGAAGCTAAGC
TTTCACACTGATTATCCAGCCCTCCATCATCCACCTGGGGTTCAGCTTCTTCACTGCATA
AAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGGGTTTAATGTGTGCCAAAAA
CTAAAGAAAAATAATCCTCAGGCATTCCAGATTTTGTCCTCTACCTTTGTGGACTTTACA
GACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACATAAAATTATAGAGTTA
GATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGGGACACAATATTT
GATGTGCCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAGGAGTTTGTTGACCTC
ATGAACAGCAAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTACTTTT
GATAACTGGCGCTTACTTCATGGCCGACGTAGCTATGAAGCAGGAACTGAGATATCCCGC
CATCTAGAAGGAGCTTATGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGG
CAGAGGGTGGAGAATGGAAACTGA
GenBank Gene IDAF082868
GeneCard IDNot Available
GenAtlas IDBBOX1
HGNC IDHGNC:964
Chromosome Location11
Locus11p14.2
References
  1. Vaz FM, van Gool S, Ofman R, Ijlst L, Wanders RJ: Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. Biochem Biophys Res Commun. 1998 Sep 18;250(2):506-10. 9753662
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  4. Tars K, Rumnieks J, Zeltins A, Kazaks A, Kotelovica S, Leonciks A, Sharipo J, Viksna A, Kuka J, Liepinsh E, Dambrova M: Crystal structure of human gamma-butyrobetaine hydroxylase. Biochem Biophys Res Commun. 2010 Aug 6;398(4):634-9. doi: 10.1016/j.bbrc.2010.06.121. Epub 2010 Jul 1. 20599753