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Aliases for BBOX1 Gene

Aliases for BBOX1 Gene

  • Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 1 2 3
  • BBOX 3 4 6
  • Gamma-Butyrobetaine Hydroxylase 3 4
  • Gamma-BBH 3 4
  • BBH 3 4
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 1 3
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 4
  • Gamma-Butyrobetaine Dioxygenase 3
  • EC 4
  • G-BBH 3

External Ids for BBOX1 Gene

Previous HGNC Symbols for BBOX1 Gene

  • BBOX

Previous GeneCards Identifiers for BBOX1 Gene

  • GC11P028411
  • GC11P027838
  • GC11P027102
  • GC11P027027
  • GC11P026759

Summaries for BBOX1 Gene

Entrez Gene Summary for BBOX1 Gene

  • This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

GeneCards Summary for BBOX1 Gene

BBOX1 (Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 1) is a Protein Coding gene. Diseases associated with BBOX1 include mulibrey nanism. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include iron ion binding and gamma-butyrobetaine dioxygenase activity. An important paralog of this gene is TMLHE.

UniProtKB/Swiss-Prot for BBOX1 Gene

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

Gene Wiki entry for BBOX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBOX1 Gene

Genomics for BBOX1 Gene

Regulatory Elements for BBOX1 Gene

Genomic Location for BBOX1 Gene

27,040,705 bp from pter
27,127,809 bp from pter
87,105 bases
Plus strand

Genomic View for BBOX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBOX1 Gene

Proteins for BBOX1 Gene

  • Protein details for BBOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gamma-butyrobetaine dioxygenase
    Protein Accession:
    Secondary Accessions:
    • B2R8L7
    • D3DQZ1
    • Q6IBJ2

    Protein attributes for BBOX1 Gene

    387 amino acids
    Molecular mass:
    44715 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 Fe(2+) ion per subunit.;
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for BBOX1 Gene

neXtProt entry for BBOX1 Gene

Proteomics data for BBOX1 Gene at MOPED

Post-translational modifications for BBOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BBOX1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for BBOX1 Gene

Domains for BBOX1 Gene

Protein Domains for BBOX1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the gamma-BBH/TMLD family.
  • Belongs to the gamma-BBH/TMLD family.
genes like me logo Genes that share domains with BBOX1: view

No data available for Gene Families for BBOX1 Gene

Function for BBOX1 Gene

Molecular function for BBOX1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4-trimethylammoniobutanoate + 2-oxoglutarate + O(2) = 3-hydroxy-4-trimethylammoniobutanoate + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of L-carnitine from gamma-butyrobetaine

Enzyme Numbers (IUBMB) for BBOX1 Gene

Gene Ontology (GO) - Molecular Function for BBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IDA 20599753
GO:0008336 gamma-butyrobetaine dioxygenase activity TAS --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with BBOX1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BBOX1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BBOX1 Gene

Localization for BBOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBOX1 Gene


Subcellular locations from

Jensen Localization Image for BBOX1 Gene COMPARTMENTS Subcellular localization image for BBOX1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with BBOX1: view

Pathways for BBOX1 Gene

genes like me logo Genes that share pathways with BBOX1: view

Pathways by source for BBOX1 Gene

1 BioSystems pathway for BBOX1 Gene
1 KEGG pathway for BBOX1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot O75936-BODG_HUMAN

  • Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis

Gene Ontology (GO) - Biological Process for BBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0045329 carnitine biosynthetic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BBOX1: view

Drugs for BBOX1 Gene

(2) Drugbank Compounds for BBOX1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 1110 Target approved, nutraceutical
Vitamin C
  • Acide ascorbique
50-81-7 Target approved, nutraceutical

(14) HMDB Compounds for BBOX1 Gene

(6) Novoseek inferred chemical compound relationships for BBOX1 Gene

Compound -log(P) Hits PubMed IDs
gamma-butyrobetaine 98 20
carnitine 80.9 9
alpha-ketoglutarate 56.6 3
fatty acid 40.5 1
lysine 32.8 2
genes like me logo Genes that share compounds with BBOX1: view

Transcripts for BBOX1 Gene

Unigene Clusters for BBOX1 Gene

Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BBOX1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBOX1 Gene

No ASD Table

Relevant External Links for BBOX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BBOX1 Gene

mRNA expression in normal human tissues for BBOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BBOX1 Gene

This gene is overexpressed in Kidney - Cortex (16.5).

Protein differential expression in normal tissues for BBOX1 Gene

This gene is overexpressed in Kidney (42.8), Urine (7.6), and Gallbladder (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BBOX1 Gene

SOURCE GeneReport for Unigene cluster for BBOX1 Gene Hs.591996

mRNA Expression by UniProt/SwissProt for BBOX1 Gene

Tissue specificity: Highly expressed in kidney; moderately expressed in liver; very low expression in brain
genes like me logo Genes that share expressions with BBOX1: view

Primer Products

In Situ Assay Products

No data available for Expression partners for BBOX1 Gene

Orthologs for BBOX1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BBOX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BBOX1 35
  • 87.77 (n)
  • 87.08 (a)
BBOX1 36
  • 87 (a)
(Canis familiaris)
Mammalia BBOX1 35
  • 87.77 (n)
  • 89.66 (a)
BBOX1 36
  • 90 (a)
(Mus musculus)
Mammalia Bbox1 35
  • 86.3 (n)
  • 89.15 (a)
Bbox1 16
Bbox1 36
  • 89 (a)
(Pan troglodytes)
Mammalia BBOX1 35
  • 99.57 (n)
  • 100 (a)
BBOX1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Bbox1 35
  • 85.1 (n)
  • 88.37 (a)
(Monodelphis domestica)
Mammalia BBOX1 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia BBOX1 36
  • 76 (a)
(Gallus gallus)
Aves BBOX1 35
  • 68.83 (n)
  • 68.83 (a)
BBOX1 36
  • 67 (a)
(Anolis carolinensis)
Reptilia BBOX1 36
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bbox1 35
  • 65.97 (n)
  • 62.92 (a)
Str.15406 35
(Danio rerio)
Actinopterygii bbox1 35
  • 60.24 (n)
  • 59.64 (a)
bbox1 36
  • 53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7154 35
fruit fly
(Drosophila melanogaster)
Insecta CG10814 37
  • 35 (a)
CG5321 37
  • 39 (a)
EG:BACR7A4.9 37
  • 36 (a)
CG5321 35
  • 46.08 (n)
  • 40.51 (a)
CG10814 36
  • 33 (a)
CG14630 36
  • 31 (a)
CG5321 36
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008246 35
  • 44.98 (n)
  • 37.18 (a)
(Caenorhabditis elegans)
Secernentea gbh-1 37
  • 33 (a)
gbh-1 35
  • 46.19 (n)
  • 34.91 (a)
gbh-1 36
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM17 36
  • 14 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06891 35
  • 42.75 (n)
  • 33.52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
Species with no ortholog for BBOX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BBOX1 Gene

Gene Tree for BBOX1 (if available)
Gene Tree for BBOX1 (if available)

Paralogs for BBOX1 Gene

Paralogs for BBOX1 Gene

(1) SIMAP similar genes for BBOX1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with BBOX1: view

Variants for BBOX1 Gene

Sequence variations from dbSNP and Humsavar for BBOX1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs11029794 -- 27,038,954(+) atata(A/T)aaaaa upstream-variant-2KB
rs10835105 -- 27,045,772(+) TAACA(G/T)CCTTT intron-variant, upstream-variant-2KB
rs10767595 -- 27,045,657(+) TTTAT(C/G/T)GAAGC intron-variant, upstream-variant-2KB
rs10767594 -- 27,045,394(+) ACTTC(C/T)TCTTT intron-variant, upstream-variant-2KB
rs10767593 -- 27,045,104(+) TTCCT(C/T)GAGCA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BBOX1 Gene

Variant ID Type Subtype PubMed ID
nsv897147 CNV Loss 21882294
nsv897148 CNV Gain 21882294
nsv508619 CNV Loss 20534489
nsv7720 CNV Loss 18451855

Relevant External Links for BBOX1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBOX1 Gene

Disorders for BBOX1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for BBOX1 Gene in MalaCards »

(1) Disease for BBOX1 Gene

(1) University of Copenhagen DISEASES for BBOX1 Gene

Relevant External Links for BBOX1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with BBOX1: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for BBOX1 Gene

Publications for BBOX1 Gene

  1. Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. (PMID: 9753662) Vaz F.M. … Wanders R.J.A. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 23
  2. Ascorbic acid and carnitine biosynthesis. (PMID: 1962562) Rebouche C.J. (Am. J. Clin. Nutr. 1991) 3 25 26
  3. Molecular cloning and characterization of the cDNA encoding the rat liver gamma-butyrobetaine hydroxylase. (PMID: 10526231) Galland S. … Demarquoy J. (Biochim. Biophys. Acta 1999) 3 23
  4. Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. (PMID: 17110165) Rigault C. … Demarquoy J. (Biochim. Biophys. Acta 2006) 3 23
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48

Products for BBOX1 Gene

  • Addgene plasmids for BBOX1

Sources for BBOX1 Gene

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