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O75936 (BODG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-butyrobetaine dioxygenase

EC=1.14.11.1
Alternative name(s):
Gamma-butyrobetaine hydroxylase
Short name=Gamma-BBH
Gamma-butyrobetaine,2-oxoglutarate dioxygenase
Gene names
Name:BBOX1
Synonyms:BBH, BBOX
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length387 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the formation of L-carnitine from gamma-butyrobetaine.

Catalytic activity

4-trimethylammoniobutanoate + 2-oxoglutarate + O2 = 3-hydroxy-4-trimethylammoniobutanoate + succinate + CO2. Ref.6

Cofactor

Binds 1 Fe2+ ion per subunit Probable.

Ascorbate.

Pathway

Amine and polyamine biosynthesis; carnitine biosynthesis.

Subcellular location

Cytoplasm.

Tissue specificity

Highly expressed in kidney; moderately expressed in liver; very low expression in brain.

Sequence similarities

Belongs to the gamma-BBH/TMLD family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 387387Gamma-butyrobetaine dioxygenase
PRO_0000207085

Sites

Metal binding381Zinc
Metal binding401Zinc
Metal binding431Zinc
Metal binding821Zinc
Metal binding2021Iron; catalytic Probable
Metal binding2041Iron; catalytic Probable
Metal binding3471Iron; catalytic Probable

Secondary structure

...................................................................... 387
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
O75936 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: A3BA3F9FA9355DB3

FASTA38744,715
        10         20         30         40         50         60 
MACTIQKAEA LDGAHLMQIL WYDEEESLYP AVWLRDNCPC SDCYLDSAKA RKLLVEALDV 

        70         80         90        100        110        120 
NIGIKGLIFD RKKVYITWPD EHYSEFQADW LKKRCFSKQA RAKLQRELFF PECQYWGSEL 

       130        140        150        160        170        180 
QLPTLDFEDV LRYDEHAYKW LSTLKKVGIV RLTGASDKPG EVSKLGKRMG FLYLTFYGHT 

       190        200        210        220        230        240 
WQVQDKIDAN NVAYTTGKLS FHTDYPALHH PPGVQLLHCI KQTVTGGDSE IVDGFNVCQK 

       250        260        270        280        290        300 
LKKNNPQAFQ ILSSTFVDFT DIGVDYCDFS VQSKHKIIEL DDKGQVVRIN FNNATRDTIF 

       310        320        330        340        350        360 
DVPVERVQPF YAALKEFVDL MNSKESKFTF KMNPGDVITF DNWRLLHGRR SYEAGTEISR 

       370        380 
HLEGAYADWD VVMSRLRILR QRVENGN 

« Hide

References

« Hide 'large scale' references
[1]"Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase."
Vaz F.M., van Gool S., Ofman R., Ijlst L., Wanders R.J.A.
Biochem. Biophys. Res. Commun. 250:506-510(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Liver.
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Cerebellum.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Kidney.
[6]"Crystal structure of human gamma-butyrobetaine hydroxylase."
Tars K., Rumnieks J., Zeltins A., Kazaks A., Kotelovica S., Leonciks A., Sharipo J., Viksna A., Kuka J., Liepinsh E., Dambrova M.
Biochem. Biophys. Res. Commun. 398:634-639(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) IN COMPLEX WITH ZINC IONS, CATALYTIC ACTIVITY, SUBUNIT.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF082868 mRNA. Translation: AAC64066.1.
CR456812 mRNA. Translation: CAG33093.1.
AK313422 mRNA. Translation: BAG36214.1.
CH471064 Genomic DNA. Translation: EAW68290.1.
CH471064 Genomic DNA. Translation: EAW68291.1.
BC011034 mRNA. Translation: AAH11034.1.
PIRJE0360.
RefSeqNP_003977.1. NM_003986.2.
XP_005253216.1. XM_005253159.2.
XP_005253217.1. XM_005253160.2.
XP_005253218.1. XM_005253161.2.
XP_005253220.1. XM_005253163.2.
UniGeneHs.591996.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3MS5X-ray1.82A1-387[»]
3N6WX-ray2.00A1-387[»]
3O2GX-ray1.78A1-387[»]
ProteinModelPortalO75936.
SMRO75936. Positions 1-385.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114008. 1 interaction.
IntActO75936. 1 interaction.
MINTMINT-1404070.
STRING9606.ENSP00000263182.

Chemistry

ChEMBLCHEMBL2163175.
DrugBankDB00139. Succinic acid.
DB00126. Vitamin C.

PTM databases

PhosphoSiteO75936.

Proteomic databases

PaxDbO75936.
PRIDEO75936.

Protocols and materials databases

DNASU8424.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263182; ENSP00000263182; ENSG00000129151.
ENST00000525090; ENSP00000433772; ENSG00000129151.
ENST00000528583; ENSP00000434918; ENSG00000129151.
ENST00000529202; ENSP00000435781; ENSG00000129151.
GeneID8424.
KEGGhsa:8424.
UCSCuc001mre.1. human.

Organism-specific databases

CTD8424.
GeneCardsGC11P027019.
HGNCHGNC:964. BBOX1.
HPAHPA007600.
HPA027823.
MIM603312. gene.
neXtProtNX_O75936.
PharmGKBPA25274.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2175.
HOGENOMHOG000231427.
HOVERGENHBG031125.
InParanoidO75936.
KOK00471.
OMACAIQKAE.
OrthoDBEOG7XPZ5P.
PhylomeDBO75936.
TreeFamTF313805.

Enzyme and pathway databases

BioCycMetaCyc:HS05246-MONOMER.
ReactomeREACT_111217. Metabolism.
SABIO-RKO75936.
UniPathwayUPA00118.

Gene expression databases

ArrayExpressO75936.
BgeeO75936.
CleanExHS_BBOX1.
GenevestigatorO75936.

Family and domain databases

InterProIPR012775. 2-oxoglut_dOase.
IPR010376. DUF971.
IPR003819. Taurine_dOase.
[Graphical view]
PfamPF06155. DUF971. 1 hit.
PF02668. TauD. 1 hit.
[Graphical view]
TIGRFAMsTIGR02409. carnitine_bodg. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceO75936.
GeneWikiGamma-butyrobetaine_dioxygenase.
GenomeRNAi8424.
NextBio31520.
PROO75936.
SOURCESearch...

Entry information

Entry nameBODG_HUMAN
AccessionPrimary (citable) accession number: O75936
Secondary accession number(s): B2R8L7, D3DQZ1, Q6IBJ2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1998
Last modified: April 16, 2014
This is version 119 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM