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Identification
HMDB Protein ID HMDBP00382
Secondary Accession Numbers
  • 5619
  • HMDBP03686
Name Gamma-butyrobetaine dioxygenase
Synonyms
  1. Gamma-BBH
  2. Gamma-butyrobetaine hydroxylase
  3. Gamma-butyrobetaine,2-oxoglutarate dioxygenase
Gene Name BBOX1
Protein Type Unknown
Biological Properties
General Function Involved in iron ion binding
Specific Function Catalyzes the formation of L-carnitine from gamma-butyrobetaine.
Pathways
  • carnitine biosynthesis
  • Carnitine Synthesis
  • Lysine degradation
Reactions
4-Trimethylammoniobutanoic acid + Oxoglutaric acid + Oxygen → L-Carnitine + Succinic acid + CO(2) details
4-Trimethylammoniobutanoic acid + Oxoglutaric acid + Oxygen → L-Carnitine + Succinic acid + Carbon dioxide details
GO Classification
Biological Process
carnitine biosynthetic process
Cellular Component
cytosol
actin cytoskeleton
mitochondrion
intracellular membrane-bounded organelle
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
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
iron ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
oxidoreductase activity
Molecular Function
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
iron ion binding
gamma-butyrobetaine dioxygenase activity
zinc ion binding
Process
metabolic process
cellular metabolic process
betaine metabolic process
carnitine metabolic process
carnitine biosynthetic process
oxidation reduction
cellular amino acid derivative metabolic process
cellular biogenic amine metabolic process
cellular amino acid and derivative metabolic process
Cellular Location
  1. Cytoplasm
Gene Properties
Chromosome Location 11
Locus 11p14.2
SNPs BBOX1
Gene Sequence
>1164 bp
ATGGCTTGTACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGATCCTC
TGGTATGATGAGGAAGAGTCTCTCTACCCAGCTGTATGGTTGAGAGACAACTGTCCGTGC
TCTGATTGCTACCTGGATTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTG
AACATTGGAATTAAAGGCTTGATATTTGACAGAAAAAAGGTGTACATCACATGGCCCGAT
GAGCATTACAGTGAATTCCAGGCTGATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCC
AGAGCAAAGCTCCAAAGAGAATTGTTTTTTCCAGAATGCCAATACTGGGGCTCAGAGCTC
CAGCTACCCACTTTGGATTTTGAAGATGTTTTAAGATATGATGAACATGCATACAAGTGG
CTCTCCACCCTCAAGAAAGTAGGCATAGTAAGACTCACCGGAGCATCTGACAAACCAGGA
GAAGTTTCAAAACTTGGGAAAAGGATGGGTTTCCTCTATCTCACATTTTATGGACATACT
TGGCAAGTGCAAGACAAAATCGATGCAAACAATGTGGCTTACACAACTGGGAAGCTAAGC
TTTCACACTGATTATCCAGCCCTCCATCATCCACCTGGGGTTCAGCTTCTTCACTGCATA
AAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGGGTTTAATGTGTGCCAAAAA
CTAAAGAAAAATAATCCTCAGGCATTCCAGATTTTGTCCTCTACCTTTGTGGACTTTACA
GACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACATAAAATTATAGAGTTA
GATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGGGACACAATATTT
GATGTACCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAGGAGTTTGTTGACCTC
ATGAACAGCAAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTACTTTT
GATAACTGGCGCTTACTTCATGGCCGACGTAGCTATGAAGCAGGAACTGAGATATCCCGC
CATCTAGAAGGAGCTTATGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGG
CAGAGGGTGGAGAATGGAAACTGA
Protein Properties
Number of Residues 387
Molecular Weight 44714.6
Theoretical pI 6.744
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Gamma-butyrobetaine dioxygenase
MACTIQKAEALDGAHLMQILWYDEEESLYPAVWLRDNCPCSDCYLDSAKARKLLVEALDV
NIGIKGLIFDRKKVYITWPDEHYSEFQADWLKKRCFSKQARAKLQRELFFPECQYWGSEL
QLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHT
WQVQDKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQK
LKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSKHKIIELDDKGQVVRINFNNATRDTIF
DVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISR
HLEGAYADWDVVMSRLRILRQRVENGN
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID O75936
UniProtKB/Swiss-Prot Entry Name BODG_HUMAN
PDB IDs
GenBank Gene ID AF082868
GeneCard ID BBOX1
GenAtlas ID BBOX1
HGNC ID HGNC:964
References
General References
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  3. 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. [PubMed:9753662 ]