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UniProtKB - O75936 (BODG_HUMAN)
Protein
Gamma-butyrobetaine dioxygenase
Gene
BBOX1
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the formation of L-carnitine from gamma-butyrobetaine.
Catalytic activityi
- EC:1.14.11.11 Publication
Cofactori
Protein has several cofactor binding sites:- Fe2+CuratedNote: Binds 1 Fe2+ ion per subunit.Curated
- L-ascorbate
: carnitine biosynthesis Pathwayi
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 38 | Zinc | 1 | |
Metal bindingi | 40 | Zinc | 1 | |
Metal bindingi | 43 | Zinc | 1 | |
Metal bindingi | 82 | Zinc | 1 | |
Metal bindingi | 202 | Iron; catalyticCurated | 1 | |
Metal bindingi | 204 | Iron; catalyticCurated | 1 | |
Metal bindingi | 347 | Iron; catalyticCurated | 1 |
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 function | Dioxygenase, Oxidoreductase |
Biological process | Carnitine biosynthesis |
Ligand | Iron, Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 1.14.11.1, 2681 |
PathwayCommonsi | O75936 |
Reactomei | R-HSA-71262, Carnitine synthesis |
SABIO-RKi | O75936 |
SignaLinki | O75936 |
UniPathwayi | UPA00118 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:964, BBOX1 |
MIMi | 603312, gene |
neXtProti | NX_O75936 |
VEuPathDBi | HostDB:ENSG00000129151 |
Subcellular locationi
Cytoplasm and Cytosol
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrion Source: GO_Central
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 8424 |
OpenTargetsi | ENSG00000129151 |
PharmGKBi | PA25274 |
Miscellaneous databases
Pharosi | O75936, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2163175 |
DrugBanki | DB00126, Ascorbic acid |
DrugCentrali | O75936 |
Genetic variation databases
BioMutai | BBOX1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000207085 | 1 – 387 | Gamma-butyrobetaine dioxygenaseAdd BLAST | 387 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 351 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O75936 |
jPOSTi | O75936 |
MassIVEi | O75936 |
PaxDbi | O75936 |
PeptideAtlasi | O75936 |
PRIDEi | O75936 |
ProteomicsDBi | 50301 |
PTM databases
iPTMneti | O75936 |
PhosphoSitePlusi | O75936 |
Expressioni
Tissue specificityi
Highly expressed in kidney; moderately expressed in liver; very low expression in brain.
Gene expression databases
Bgeei | ENSG00000129151, Expressed in nephron tubule and 177 other tissues |
ExpressionAtlasi | O75936, baseline and differential |
Genevisiblei | O75936, HS |
Organism-specific databases
HPAi | ENSG00000129151, Group enriched (kidney, liver) |
Interactioni
Binary interactionsi
O75936
With | #Exp. | IntAct |
---|---|---|
itself | 6 | EBI-715662,EBI-715662 |
SHTN1 - isoform 7 [A0MZ66-7] | 3 | EBI-715662,EBI-10171490 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 114008, 26 interactors |
IntActi | O75936, 16 interactors |
MINTi | O75936 |
STRINGi | 9606.ENSP00000263182 |
Chemistry databases
BindingDBi | O75936 |
Miscellaneous databases
RNActi | O75936, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O75936 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O75936 |
Family & Domainsi
Sequence similaritiesi
Belongs to the gamma-BBH/TMLD family.Curated
Phylogenomic databases
eggNOGi | KOG3888, Eukaryota |
GeneTreei | ENSGT00530000063582 |
HOGENOMi | CLU_021859_2_0_1 |
InParanoidi | O75936 |
OMAi | AFHIADR |
OrthoDBi | 868657at2759 |
PhylomeDBi | O75936 |
TreeFami | TF313805 |
Family and domain databases
DisProti | DP02678 |
Gene3Di | 3.30.2020.30, 1 hit 3.60.130.10, 1 hit |
InterProi | View protein in InterPro IPR012775, GBBH IPR010376, GBBH-like_N IPR038492, GBBH-like_N_sf IPR042098, TauD-like_sf IPR003819, TauD/TfdA-like |
Pfami | View protein in Pfam PF06155, GBBH-like_N, 1 hit PF02668, TauD, 1 hit |
TIGRFAMsi | TIGR02409, carnitine_bodg, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O75936-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PKC9 | E9PKC9_HUMAN | Gamma-butyrobetaine dioxygenase | BBOX1 | 68 | Annotation score: |
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 |
CCDSi | CCDS7862.1 |
PIRi | JE0360 |
RefSeqi | NP_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 |
Genome annotation databases
Ensembli | ENST00000263182; ENSP00000263182; ENSG00000129151 ENST00000525090; ENSP00000433772; ENSG00000129151 ENST00000528583; ENSP00000434918; ENSG00000129151 ENST00000529202; ENSP00000435781; ENSG00000129151 |
GeneIDi | 8424 |
KEGGi | hsa:8424 |
MANE-Selecti | ENST00000263182.8; ENSP00000263182.3; NM_003986.3; NP_003977.1 |
UCSCi | uc001mre.1, human |
Similar proteinsi
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 |
CCDSi | CCDS7862.1 |
PIRi | JE0360 |
RefSeqi | NP_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 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3MS5 | X-ray | 1.82 | A | 1-387 | [»] | |
3N6W | X-ray | 2.00 | A | 1-387 | [»] | |
3O2G | X-ray | 1.78 | A | 1-387 | [»] | |
4BG1 | X-ray | 1.89 | A | 1-387 | [»] | |
4BGK | X-ray | 2.18 | A | 1-387 | [»] | |
4BGM | X-ray | 2.40 | A | 1-387 | [»] | |
4BHF | X-ray | 2.05 | A | 1-387 | [»] | |
4BHG | X-ray | 1.85 | A | 1-387 | [»] | |
4BHI | X-ray | 2.15 | A | 1-387 | [»] | |
4C5W | X-ray | 1.70 | A | 1-387 | [»] | |
4C8R | X-ray | 2.82 | A/B/C/D/E/F | 1-387 | [»] | |
4CWD | X-ray | 1.90 | A | 1-387 | [»] | |
SMRi | O75936 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114008, 26 interactors |
IntActi | O75936, 16 interactors |
MINTi | O75936 |
STRINGi | 9606.ENSP00000263182 |
Chemistry databases
BindingDBi | O75936 |
ChEMBLi | CHEMBL2163175 |
DrugBanki | DB00126, Ascorbic acid |
DrugCentrali | O75936 |
PTM databases
iPTMneti | O75936 |
PhosphoSitePlusi | O75936 |
Genetic variation databases
BioMutai | BBOX1 |
Proteomic databases
EPDi | O75936 |
jPOSTi | O75936 |
MassIVEi | O75936 |
PaxDbi | O75936 |
PeptideAtlasi | O75936 |
PRIDEi | O75936 |
ProteomicsDBi | 50301 |
Protocols and materials databases
Antibodypediai | 2001, 372 antibodies from 30 providers |
DNASUi | 8424 |
Genome annotation databases
Ensembli | ENST00000263182; ENSP00000263182; ENSG00000129151 ENST00000525090; ENSP00000433772; ENSG00000129151 ENST00000528583; ENSP00000434918; ENSG00000129151 ENST00000529202; ENSP00000435781; ENSG00000129151 |
GeneIDi | 8424 |
KEGGi | hsa:8424 |
MANE-Selecti | ENST00000263182.8; ENSP00000263182.3; NM_003986.3; NP_003977.1 |
UCSCi | uc001mre.1, human |
Organism-specific databases
CTDi | 8424 |
DisGeNETi | 8424 |
GeneCardsi | BBOX1 |
HGNCi | HGNC:964, BBOX1 |
HPAi | ENSG00000129151, Group enriched (kidney, liver) |
MIMi | 603312, gene |
neXtProti | NX_O75936 |
OpenTargetsi | ENSG00000129151 |
PharmGKBi | PA25274 |
VEuPathDBi | HostDB:ENSG00000129151 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3888, Eukaryota |
GeneTreei | ENSGT00530000063582 |
HOGENOMi | CLU_021859_2_0_1 |
InParanoidi | O75936 |
OMAi | AFHIADR |
OrthoDBi | 868657at2759 |
PhylomeDBi | O75936 |
TreeFami | TF313805 |
Enzyme and pathway databases
UniPathwayi | UPA00118 |
BRENDAi | 1.14.11.1, 2681 |
PathwayCommonsi | O75936 |
Reactomei | R-HSA-71262, Carnitine synthesis |
SABIO-RKi | O75936 |
SignaLinki | O75936 |
Miscellaneous databases
BioGRID-ORCSi | 8424, 4 hits in 1037 CRISPR screens |
ChiTaRSi | BBOX1, human |
EvolutionaryTracei | O75936 |
GeneWikii | Gamma-butyrobetaine_dioxygenase |
GenomeRNAii | 8424 |
Pharosi | O75936, Tchem |
PROi | PR:O75936 |
RNActi | O75936, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000129151, Expressed in nephron tubule and 177 other tissues |
ExpressionAtlasi | O75936, baseline and differential |
Genevisiblei | O75936, HS |
Family and domain databases
DisProti | DP02678 |
Gene3Di | 3.30.2020.30, 1 hit 3.60.130.10, 1 hit |
InterProi | View protein in InterPro IPR012775, GBBH IPR010376, GBBH-like_N IPR038492, GBBH-like_N_sf IPR042098, TauD-like_sf IPR003819, TauD/TfdA-like |
Pfami | View protein in Pfam PF06155, GBBH-like_N, 1 hit PF02668, TauD, 1 hit |
TIGRFAMsi | TIGR02409, carnitine_bodg, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | BODG_HUMAN | |
Accessioni | O75936Primary (citable) accession number: O75936 Secondary accession number(s): B2R8L7, D3DQZ1, Q6IBJ2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | November 1, 1998 | |
Last modified: | February 23, 2022 | |
This is version 180 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families