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Protein

Gamma-butyrobetaine dioxygenase

Gene

BBOX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

4-trimethylammoniobutanoate + 2-oxoglutarate + O2 = 3-hydroxy-4-trimethylammoniobutanoate + succinate + CO2.1 Publication

Cofactori

Protein has several cofactor binding sites:

Pathwayi: carnitine biosynthesis

This protein is involved in the pathway carnitine biosynthesis, which is part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the pathway carnitine biosynthesis and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi38Zinc1
Metal bindingi40Zinc1
Metal bindingi43Zinc1
Metal bindingi82Zinc1
Metal bindingi202Iron; catalyticCurated1
Metal bindingi204Iron; catalyticCurated1
Metal bindingi347Iron; catalyticCurated1

GO - Molecular functioni

  • gamma-butyrobetaine dioxygenase activity Source: UniProtKB
  • identical protein binding Source: IntAct
  • iron ion binding Source: InterPro
  • zinc ion binding Source: UniProtKB

GO - Biological processi

  • carnitine biosynthetic process Source: UniProtKB

Keywordsi

Molecular functionDioxygenase, Oxidoreductase
Biological processCarnitine biosynthesis
LigandIron, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciMetaCyc:HS05246-MONOMER.
BRENDAi1.14.11.1. 2681.
ReactomeiR-HSA-71262. Carnitine synthesis.
SABIO-RKO75936.
UniPathwayiUPA00118.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:BBOX1
Synonyms:BBH, BBOX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:964. BBOX1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • mitochondrion Source: Ensembl

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi8424.
OpenTargetsiENSG00000129151.
PharmGKBiPA25274.

Chemistry databases

ChEMBLiCHEMBL2163175.
DrugBankiDB00139. Succinic acid.
DB00126. Vitamin C.

Polymorphism and mutation databases

BioMutaiBBOX1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002070851 – 387Gamma-butyrobetaine dioxygenaseAdd BLAST387

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei351PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO75936.
PeptideAtlasiO75936.
PRIDEiO75936.

PTM databases

iPTMnetiO75936.
PhosphoSitePlusiO75936.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000129151.
CleanExiHS_BBOX1.
ExpressionAtlasiO75936. baseline and differential.
GenevisibleiO75936. HS.

Organism-specific databases

HPAiHPA007600.
HPA027823.

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi114008. 18 interactors.
IntActiO75936. 2 interactors.
MINTiMINT-1404070.
STRINGi9606.ENSP00000263182.

Chemistry databases

BindingDBiO75936.

Structurei

Secondary structure

1387
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni1 – 3Combined sources3
Beta strandi4 – 11Combined sources8
Turni12 – 15Combined sources4
Beta strandi16 – 21Combined sources6
Beta strandi26 – 30Combined sources5
Helixi31 – 36Combined sources6
Turni41 – 43Combined sources3
Turni46 – 49Combined sources4
Helixi55 – 57Combined sources3
Beta strandi65 – 69Combined sources5
Beta strandi71 – 77Combined sources7
Beta strandi83 – 87Combined sources5
Helixi88 – 93Combined sources6
Helixi98 – 109Combined sources12
Beta strandi124 – 126Combined sources3
Helixi127 – 132Combined sources6
Helixi134 – 147Combined sources14
Beta strandi148 – 153Combined sources6
Beta strandi157 – 159Combined sources3
Helixi161 – 169Combined sources9
Beta strandi178 – 184Combined sources7
Helixi192 – 194Combined sources3
Beta strandi195 – 197Combined sources3
Beta strandi199 – 202Combined sources4
Beta strandi208 – 210Combined sources3
Beta strandi213 – 221Combined sources9
Beta strandi224 – 226Combined sources3
Beta strandi229 – 233Combined sources5
Helixi234 – 244Combined sources11
Helixi246 – 252Combined sources7
Beta strandi256 – 280Combined sources25
Beta strandi286 – 289Combined sources4
Turni293 – 295Combined sources3
Helixi304 – 306Combined sources3
Helixi307 – 322Combined sources16
Turni324 – 326Combined sources3
Beta strandi328 – 330Combined sources3
Beta strandi337 – 341Combined sources5
Turni342 – 344Combined sources3
Beta strandi345 – 349Combined sources5
Beta strandi361 – 367Combined sources7
Helixi369 – 383Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MS5X-ray1.82A1-387[»]
3N6WX-ray2.00A1-387[»]
3O2GX-ray1.78A1-387[»]
4BG1X-ray1.89A1-387[»]
4BGKX-ray2.18A1-387[»]
4BGMX-ray2.40A1-387[»]
4BHFX-ray2.05A1-387[»]
4BHGX-ray1.85A1-387[»]
4BHIX-ray2.15A1-387[»]
4C5WX-ray1.70A1-387[»]
4C8RX-ray2.82A/B/C/D/E/F1-387[»]
4CWDX-ray1.90A1-387[»]
ProteinModelPortaliO75936.
SMRiO75936.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75936.

Family & Domainsi

Sequence similaritiesi

Belongs to the gamma-BBH/TMLD family.Curated

Phylogenomic databases

eggNOGiKOG3888. Eukaryota.
COG2175. LUCA.
GeneTreeiENSGT00530000063582.
HOGENOMiHOG000231427.
HOVERGENiHBG031125.
InParanoidiO75936.
KOiK00471.
OMAiLMQILWH.
OrthoDBiEOG090705A8.
PhylomeDBiO75936.
TreeFamiTF313805.

Family and domain databases

InterProiView protein in InterPro
IPR010376. DUF971.
IPR012775. GBBH.
IPR003819. TauD/TfdA-like.
PfamiView protein in Pfam
PF06155. DUF971. 1 hit.
PF02668. TauD. 1 hit.
TIGRFAMsiTIGR02409. carnitine_bodg. 1 hit.

Sequencei

Sequence statusi: Complete.

O75936-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MACTIQKAEA LDGAHLMQIL WYDEEESLYP AVWLRDNCPC SDCYLDSAKA
60 70 80 90 100
RKLLVEALDV NIGIKGLIFD RKKVYITWPD EHYSEFQADW LKKRCFSKQA
110 120 130 140 150
RAKLQRELFF PECQYWGSEL QLPTLDFEDV LRYDEHAYKW LSTLKKVGIV
160 170 180 190 200
RLTGASDKPG EVSKLGKRMG FLYLTFYGHT WQVQDKIDAN NVAYTTGKLS
210 220 230 240 250
FHTDYPALHH PPGVQLLHCI KQTVTGGDSE IVDGFNVCQK LKKNNPQAFQ
260 270 280 290 300
ILSSTFVDFT DIGVDYCDFS VQSKHKIIEL DDKGQVVRIN FNNATRDTIF
310 320 330 340 350
DVPVERVQPF YAALKEFVDL MNSKESKFTF KMNPGDVITF DNWRLLHGRR
360 370 380
SYEAGTEISR HLEGAYADWD VVMSRLRILR QRVENGN
Length:387
Mass (Da):44,715
Last modified:November 1, 1998 - v1
Checksum:iA3BA3F9FA9355DB3
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7862.1.
PIRiJE0360.
RefSeqiNP_003977.1. NM_003986.2.
XP_005253216.1. XM_005253159.2.
XP_005253217.1. XM_005253160.2.
XP_005253218.1. XM_005253161.2.
XP_011518704.1. XM_011520402.1.
XP_016873892.1. XM_017018403.1.
UniGeneiHs.591996.

Genome annotation databases

EnsembliENST00000263182; ENSP00000263182; ENSG00000129151.
ENST00000525090; ENSP00000433772; ENSG00000129151.
ENST00000528583; ENSP00000434918; ENSG00000129151.
ENST00000529202; ENSP00000435781; ENSG00000129151.
GeneIDi8424.
KEGGihsa:8424.
UCSCiuc001mre.1. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7862.1.
PIRiJE0360.
RefSeqiNP_003977.1. NM_003986.2.
XP_005253216.1. XM_005253159.2.
XP_005253217.1. XM_005253160.2.
XP_005253218.1. XM_005253161.2.
XP_011518704.1. XM_011520402.1.
XP_016873892.1. XM_017018403.1.
UniGeneiHs.591996.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MS5X-ray1.82A1-387[»]
3N6WX-ray2.00A1-387[»]
3O2GX-ray1.78A1-387[»]
4BG1X-ray1.89A1-387[»]
4BGKX-ray2.18A1-387[»]
4BGMX-ray2.40A1-387[»]
4BHFX-ray2.05A1-387[»]
4BHGX-ray1.85A1-387[»]
4BHIX-ray2.15A1-387[»]
4C5WX-ray1.70A1-387[»]
4C8RX-ray2.82A/B/C/D/E/F1-387[»]
4CWDX-ray1.90A1-387[»]
ProteinModelPortaliO75936.
SMRiO75936.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114008. 18 interactors.
IntActiO75936. 2 interactors.
MINTiMINT-1404070.
STRINGi9606.ENSP00000263182.

Chemistry databases

BindingDBiO75936.
ChEMBLiCHEMBL2163175.
DrugBankiDB00139. Succinic acid.
DB00126. Vitamin C.

PTM databases

iPTMnetiO75936.
PhosphoSitePlusiO75936.

Polymorphism and mutation databases

BioMutaiBBOX1.

Proteomic databases

PaxDbiO75936.
PeptideAtlasiO75936.
PRIDEiO75936.

Protocols and materials databases

DNASUi8424.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263182; ENSP00000263182; ENSG00000129151.
ENST00000525090; ENSP00000433772; ENSG00000129151.
ENST00000528583; ENSP00000434918; ENSG00000129151.
ENST00000529202; ENSP00000435781; ENSG00000129151.
GeneIDi8424.
KEGGihsa:8424.
UCSCiuc001mre.1. human.

Organism-specific databases

CTDi8424.
DisGeNETi8424.
GeneCardsiBBOX1.
HGNCiHGNC:964. BBOX1.
HPAiHPA007600.
HPA027823.
MIMi603312. gene.
neXtProtiNX_O75936.
OpenTargetsiENSG00000129151.
PharmGKBiPA25274.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3888. Eukaryota.
COG2175. LUCA.
GeneTreeiENSGT00530000063582.
HOGENOMiHOG000231427.
HOVERGENiHBG031125.
InParanoidiO75936.
KOiK00471.
OMAiLMQILWH.
OrthoDBiEOG090705A8.
PhylomeDBiO75936.
TreeFamiTF313805.

Enzyme and pathway databases

UniPathwayiUPA00118.
BioCyciMetaCyc:HS05246-MONOMER.
BRENDAi1.14.11.1. 2681.
ReactomeiR-HSA-71262. Carnitine synthesis.
SABIO-RKO75936.

Miscellaneous databases

ChiTaRSiBBOX1. human.
EvolutionaryTraceiO75936.
GeneWikiiGamma-butyrobetaine_dioxygenase.
GenomeRNAii8424.
PROiO75936.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129151.
CleanExiHS_BBOX1.
ExpressionAtlasiO75936. baseline and differential.
GenevisibleiO75936. HS.

Family and domain databases

InterProiView protein in InterPro
IPR010376. DUF971.
IPR012775. GBBH.
IPR003819. TauD/TfdA-like.
PfamiView protein in Pfam
PF06155. DUF971. 1 hit.
PF02668. TauD. 1 hit.
TIGRFAMsiTIGR02409. carnitine_bodg. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiBODG_HUMAN
AccessioniPrimary (citable) accession number: O75936
Secondary accession number(s): B2R8L7, D3DQZ1, Q6IBJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1998
Last modified: February 15, 2017
This is version 149 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.