ID   BODG_HUMAN              Reviewed;         387 AA.
AC   O75936; Q6IBJ2;
DT   15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   07-JUL-2009, entry version 72.
DE   RecName: Full=Gamma-butyrobetaine dioxygenase;
DE            EC=1.14.11.1;
DE   AltName: Full=Gamma-butyrobetaine,2-oxoglutarate dioxygenase;
DE   AltName: Full=Gamma-butyrobetaine hydroxylase;
DE            Short=Gamma-BBH;
GN   Name=BBOX1; Synonyms=BBH, BBOX;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Liver;
RX   MEDLINE=98440830; PubMed=9753662; DOI=10.1006/bbrc.1998.9343;
RA   Vaz F.M., van Gool S., Ofman R., Ijlst L., Wanders R.J.A.;
RT   "Carnitine biosynthesis: identification of the cDNA encoding human
RT   gamma-butyrobetaine hydroxylase.";
RL   Biochem. Biophys. Res. Commun. 250:506-510(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA   Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT   "Cloning of human full open reading frames in Gateway(TM) system entry
RT   vector (pDONR201).";
RL   Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Kidney;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: Catalyzes the formation of L-carnitine from gamma-
CC       butyrobetaine.
CC   -!- CATALYTIC ACTIVITY: 4-trimethylammoniobutanoate + 2-oxoglutarate +
CC       O(2) = 3-hydroxy-4-trimethylammoniobutanoate + succinate + CO(2).
CC   -!- COFACTOR: Iron.
CC   -!- COFACTOR: Ascorbate.
CC   -!- PATHWAY: Amine and polyamine biosynthesis; carnitine biosynthesis.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm.
CC   -!- TISSUE SPECIFICITY: Highly expressed in kidney; moderately
CC       expressed in liver; very low expression in brain.
CC   -!- SIMILARITY: Belongs to the gamma-BBH/TMLD family.
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DR   EMBL; AF082868; AAC64066.1; -; mRNA.
DR   EMBL; CR456812; CAG33093.1; -; mRNA.
DR   EMBL; BC011034; AAH11034.1; -; mRNA.
DR   IPI; IPI00027416; -.
DR   PIR; JE0360; JE0360.
DR   RefSeq; NP_003977.1; -.
DR   UniGene; Hs.591996; -.
DR   IntAct; O75936; 1.
DR   PRIDE; O75936; -.
DR   Ensembl; ENSG00000129151; Homo sapiens.
DR   GeneID; 8424; -.
DR   KEGG; hsa:8424; -.
DR   UCSC; uc001mre.1; human.
DR   GeneCards; GC11P027019; -.
DR   H-InvDB; HIX0009515; -.
DR   HGNC; HGNC:964; BBOX1.
DR   HPA; HPA007600; -.
DR   MIM; 603312; gene.
DR   PharmGKB; PA25274; -.
DR   HOGENOM; O75936; -.
DR   HOVERGEN; O75936; -.
DR   OMA; O75936; LMQILWH.
DR   BRENDA; 1.14.11.1; 247.
DR   Reactome; REACT_13; Metabolism of amino acids.
DR   DrugBank; DB00139; Succinic acid.
DR   DrugBank; DB00126; Vitamin C.
DR   NextBio; 31520; -.
DR   ArrayExpress; O75936; -.
DR   Bgee; O75936; -.
DR   CleanEx; HS_BBOX1; -.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0009055; F:electron carrier activity; IEA:InterPro.
DR   GO; GO:0008336; F:gamma-butyrobetaine dioxygenase activity; IDA:UniProtKB.
DR   GO; GO:0005506; F:iron ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0016702; F:oxidoreductase activity, acting on single d...; IEA:UniProtKB-KW.
DR   GO; GO:0045329; P:carnitine biosynthetic process; IDA:UniProtKB.
DR   GO; GO:0055114; P:oxidation reduction; IEA:UniProtKB-KW.
DR   InterPro; IPR012775; 2-oxoglut_dOase.
DR   InterPro; IPR003819; Taurine_dOase.
DR   Pfam; PF02668; TauD; 1.
DR   TIGRFAMs; TIGR02409; carnitine_bodg; 1.
PE   2: Evidence at transcript level;
KW   Carnitine biosynthesis; Complete proteome; Cytoplasm; Dioxygenase;
KW   Iron; Oxidoreductase.
FT   CHAIN         1    387       Gamma-butyrobetaine dioxygenase.
FT                                /FTId=PRO_0000207085.
SQ   SEQUENCE   387 AA;  44715 MW;  A3BA3F9FA9355DB3 CRC64;
     MACTIQKAEA LDGAHLMQIL WYDEEESLYP AVWLRDNCPC SDCYLDSAKA RKLLVEALDV
     NIGIKGLIFD RKKVYITWPD EHYSEFQADW LKKRCFSKQA RAKLQRELFF PECQYWGSEL
     QLPTLDFEDV LRYDEHAYKW LSTLKKVGIV RLTGASDKPG EVSKLGKRMG FLYLTFYGHT
     WQVQDKIDAN NVAYTTGKLS FHTDYPALHH PPGVQLLHCI KQTVTGGDSE IVDGFNVCQK
     LKKNNPQAFQ ILSSTFVDFT DIGVDYCDFS VQSKHKIIEL DDKGQVVRIN FNNATRDTIF
     DVPVERVQPF YAALKEFVDL MNSKESKFTF KMNPGDVITF DNWRLLHGRR SYEAGTEISR
     HLEGAYADWD VVMSRLRILR QRVENGN
//