Reviewed, UniProtKB/Swiss-Prot O75936 (BODG_HUMAN)

Names and origin

Protein names

Recommended name:
    Gamma-butyrobetaine dioxygenase
    EC=1.14.11.1
Alternative name(s):
    Gamma-butyrobetaine,2-oxoglutarate dioxygenase
    Gamma-butyrobetaine hydroxylase
      Short name=Gamma-BBH

Gene names

Name:	BBOX1
Synonyms:	BBH, BBOX

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	387 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript 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.
Cofactor	Iron. 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.

Ontologies

Keywords
Biological process	Carnitine biosynthesis
Cellular component	Cytoplasm
Ligand	Iron
Molecular function	Dioxygenase Oxidoreductase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	carnitine biosynthetic process Ref.1 Inferred from direct assay. Source: UniProtKB oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Molecular function	electron carrier activity Inferred from electronic annotation. Source: InterPro gamma-butyrobetaine dioxygenase activity Ref.1 Inferred from direct assay. Source: UniProtKB iron ion binding Inferred from electronic annotation. Source: UniProtKB-KW oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 387	387	Gamma-butyrobetaine dioxygenase		PRO_0000207085

Sequences

	Sequence		Length	Mass (Da)
	O75936-1 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: A3BA3F9FA9355DB3	FASTA	387	44,715
	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

References

	« Hide 'large scale' referencesShow '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: 9753662] [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. , 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: 14702039] [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. , 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF082868 mRNA. Translation: AAC64066.1. CR456812 mRNA. Translation: CAG33093.1. AK313422 mRNA. Translation: BAG36214.1. CH471064 Genomic DNA. Translation: EAW68290.1. BC011034 mRNA. Translation: AAH11034.1.
IPI	IPI00027416.
PIR	JE0360.
RefSeq	NP_003977.1.
UniGene	Hs.591996
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O75936. 1 interaction.
STRING	O75936.
Proteomic databases
PRIDE	O75936.
Genome annotation databases
Ensembl	ENST00000263182; ENSP00000263182; ENSG00000129151; Homo sapiens. [Genome view]
GeneID	8424.
KEGG	hsa:8424.
UCSC	uc001mre.1. human.
Organism-specific databases
CTD	8424.
GeneCards	GC11P027019.
H-InvDB	HIX0009515.
HGNC	HGNC:964. BBOX1.
HPA	HPA007600.
MIM	603312. gene.
PharmGKB	PA25274.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O75936.
HOVERGEN	O75936.
OMA	LMQILWH.
Enzyme and pathway databases
BRENDA	1.14.11.1. 247.
Reactome	REACT_13. Metabolism of amino acids.
Gene expression databases
ArrayExpress	O75936.
Bgee	O75936.
CleanEx	HS_BBOX1.
Genevestigator	O75936.
Family and domain databases
InterPro	IPR012775. 2-oxoglut_dOase. IPR003819. Taurine_dOase. [Graphical view]
Pfam	PF02668. TauD. 1 hit. [Graphical view]
TIGRFAMs	TIGR02409. carnitine_bodg. 1 hit.
ProtoNet	Search...
Other Resources
DrugBank	DB00139. Succinic acid. DB00126. Vitamin C.
NextBio	31520.
SOURCE	Search...

Entry information

Entry name

BODG_HUMAN

Accession

Primary (citable) accession number: O75936
Secondary accession number(s): B2R8L7, Q6IBJ2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	November 1, 1998
Last modified:	November 3, 2009
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.