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] See more...

Aliases for BBOX1 Gene

Aliases for BBOX1 Gene

  • Gamma-Butyrobetaine Hydroxylase 1 2 3 5
  • Gamma-BBH 2 3 4
  • BBH 2 3 4
  • Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 1 2 3
  • Gamma-Butyrobetaine Dioxygenase 3 4
  • G-BBH 2 3
  • BBOX 3 4
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 1 3
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 4
  • Gamma-Butyrobetaine Hydroxylase 4
  • EC 1.14.11.1 4
  • BBOX1 5

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 (Gamma-Butyrobetaine Hydroxylase 1) is a Protein Coding gene. Diseases associated with BBOX1 include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H and Erysipeloid. Among its related pathways are Lysine degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors. An important paralog of this gene is TMLHE.

UniProtKB/Swiss-Prot Summary for BBOX1 Gene

Gene Wiki entry for BBOX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BBOX1 Gene

Genomics for BBOX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BBOX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J027054 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 256.6 +14.7 14727 1.2 CEBPA ATF3 YY1 FOXA1 HOMEZ FOXA2 KDM6A MAFF SMAD4 RXRA BBOX1 FIBIN lnc-FIBIN-1 RF00994-171 BBOX1-AS1 CCDC34
GH11J027040 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 259 +0.6 596 2.6 CEBPB CTCF PKNOX1 SCRT1 RAD21 ATF2 CREB1 SMC3 RFX1 PRDM10 BBOX1 lnc-FIBIN-1 RF00994-171 CCDC34
GH11J027011 Enhancer 0.9 Ensembl ENCODE 9.1 -27.7 -27659 2.9 ZNF600 JUND FEZF1 ZNF843 PRDM6 ZNF24 ZNF664 ZNF518A GLIS1 ZNF133 BBOX1 HSALNG0083283 FIBIN
GH11J027158 Enhancer 0.8 Ensembl ENCODE 9 +118.5 118460 1 ZNF654 JUND ATF3 CEBPB REST DEK TRIM22 CTCF RAD21 RFX5 BBOX1 HSALNG0083287 NONHSAG007889.2 BBOX1-AS1 CCDC34
GH11J026776 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 5.1 -262.4 -262422 2.9 MAFK JUND IKZF1 POLR2A EP300 RUNX3 ETV6 CEBPB BBOX1 piR-32325-025 SLC5A12 piR-38352-069 FIBIN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BBOX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BBOX1

Top Transcription factor binding sites by QIAGEN in the BBOX1 gene promoter:
  • aMEF-2
  • Bach2
  • Cdc5
  • E4BP4
  • FOXO1
  • FOXO1a
  • HOXA3
  • IRF-2
  • MEF-2A
  • MRF-2

Genomic Locations for BBOX1 Gene

Latest Assembly
chr11:27,040,705-27,127,809
(GRCh38/hg38)
Size:
87,105 bases
Orientation:
Plus strand

Previous Assembly
chr11:27,062,362-27,149,356
(GRCh37/hg19 by Entrez Gene)
Size:
86,995 bases
Orientation:
Plus strand

chr11:27,062,272-27,149,356
(GRCh37/hg19 by Ensembl)
Size:
87,085 bases
Orientation:
Plus strand

Genomic View for BBOX1 Gene

Genes around BBOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    O75936-BODG_HUMAN
    Recommended name:
    Gamma-butyrobetaine dioxygenase
    Protein Accession:
    O75936
    Secondary Accessions:
    • B2R8L7
    • D3DQZ1
    • Q6IBJ2

    Protein attributes for BBOX1 Gene

    Size:
    387 amino acids
    Molecular mass:
    44715 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    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

Post-translational modifications for BBOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BBOX1 Gene

Domains & Families for BBOX1 Gene

Gene Families for BBOX1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for BBOX1 Gene

Suggested Antigen Peptide Sequences for BBOX1 Gene

GenScript: Design optimal peptide antigens:
  • Gamma-butyrobetaine,2-oxoglutarate dioxygenase (BODG_HUMAN)
  • Gamma-butyrobetaine hydroxylase (Q1KLS6_HUMAN)
  • Gamma-butyrobetaine hydroxylase (Q1KLT3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75936

UniProtKB/Swiss-Prot:

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

Function for BBOX1 Gene

Molecular function for BBOX1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of L-carnitine from gamma-butyrobetaine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + 4-(trimethylamino)butanoate + O2 = carnitine + CO2 + succinate; Xref=Rhea:RHEA:24028, ChEBI:CHEBI:15379, ChEBI:CHEBI:16244, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:17126, ChEBI:CHEBI:30031; EC=1.14.11.1; Evidence={ECO:0000269|PubMed:20599753};.

Enzyme Numbers (IUBMB) for BBOX1 Gene

Phenotypes From GWAS Catalog 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 IBA,ISS 10526231
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with BBOX1: view
genes like me logo Genes that share phenotypes with BBOX1: view

Animal Models for BBOX1 Gene

MGI Knock Outs for BBOX1:
  • Bbox1 Bbox1<tm1a(KOMP)Wtsi>
  • Bbox1 Bbox1<tm1b(KOMP)Wtsi>

miRNA for BBOX1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBOX1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BBOX1 Gene

Localization for BBOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBOX1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BBOX1 gene
Compartment Confidence
cytosol 5
extracellular 4
mitochondrion 4
nucleus 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with BBOX1: view

Pathways & Interactions for BBOX1 Gene

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

Pathways by source for BBOX1 Gene

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:0045329 carnitine biosynthetic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BBOX1: view

No data available for SIGNOR curated interactions for BBOX1 Gene

Drugs & Compounds for BBOX1 Gene

(12) Drugs for BBOX1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target, cofactor 836,836
Oxygen Approved, Vet_approved Pharma 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
L-Carnitine Approved, Investigational Pharma 0
Succinic acid Approved Nutra 0

(6) Additional Compounds for BBOX1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Trimethylammoniobutanoic acid
  • 3-Dehydroxycarnitine
  • 4-(N-Trimethylamino)butyrate
  • 4-(Trimethylamino)butanoate
  • 4-Butyrobetaine
  • Actinine
407-64-7
N1-acetylspermine
  • N'-acetylspermine
  • N'-monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • 1,7-Diamino-4-azaheptane
  • 3,3'-Iminobis(propylamine)
  • 3,3'-Iminobispropylamine
  • 3,3'-Iminodi(propylamine)
  • 3,3-Diaminodipropylamine
56-18-8
genes like me logo Genes that share compounds with BBOX1: view

Transcripts for BBOX1 Gene

mRNA/cDNA for BBOX1 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBOX1

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

No ASD Table

Relevant External Links for BBOX1 Gene

GeneLoc Exon Structure for
BBOX1

Expression for BBOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x16.5).

Protein differential expression in normal tissues from HIPED for BBOX1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BBOX1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BBOX1

SOURCE GeneReport for Unigene cluster for BBOX1 Gene:

Hs.591996

mRNA Expression by UniProt/SwissProt for BBOX1 Gene:

O75936-BODG_HUMAN
Tissue specificity: Highly expressed in kidney; moderately expressed in liver; very low expression in brain.

Evidence on tissue expression from TISSUES for BBOX1 Gene

  • Kidney(4.8)
  • Nervous system(4.7)
  • Liver(4.5)
  • Skin(2.7)
genes like me logo Genes that share expression patterns with BBOX1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia BBOX1 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BBOX1 29 30
  • 87.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BBOX1 29 30
  • 87.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bbox1 29 16 30
  • 86.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bbox1 29
  • 85.1 (n)
Oppossum
(Monodelphis domestica)
Mammalia BBOX1 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BBOX1 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BBOX1 29 30
  • 68.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BBOX1 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bbox1 29
  • 65.97 (n)
Str.15406 29
Zebrafish
(Danio rerio)
Actinopterygii bbox1 29 30
  • 60.24 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7154 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG5321 29 30 31
  • 46.08 (n)
OneToMany
EG:BACR7A4.9 31
  • 36 (a)
CG10814 30 31
  • 33 (a)
OneToMany
CG14630 30
  • 31 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008246 29
  • 44.98 (n)
Worm
(Caenorhabditis elegans)
Secernentea gbh-1 29 30 31
  • 46.19 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM17 30
  • 14 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06891 29
  • 42.75 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 26 (a)
OneToOne
Species where no ortholog for BBOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for BBOX1 (if available)
TreeFam:
Gene Tree for BBOX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BBOX1: view image
Alliance of Genome Resources:
Additional Orthologs for BBOX1

Paralogs for BBOX1 Gene

Paralogs for BBOX1 Gene

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

  • BODG_HUMAN
  • E9PKC9_HUMAN
  • Q1KLS6_HUMAN
  • Q1KLT3_HUMAN
genes like me logo Genes that share paralogs with BBOX1: view

Variants for BBOX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BBOX1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs143972595 Benign: not provided 27,093,232(+) T/C
NM_003986.3(BBOX1):c.399T>C (p.Tyr133=)
SYNONYMOUS
rs73434012 Benign: not provided 27,125,747(+) T/C
NM_003986.3(BBOX1):c.930T>C (p.Phe310=)
SYNONYMOUS
rs76937267 Benign: not provided 27,115,539(+) C/T
NM_003986.3(BBOX1):c.621C>T (p.Ala207=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BBOX1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1727n54 CNV gain 21841781
esv3625759 CNV gain 21293372
esv3625760 CNV gain 21293372
esv3625763 CNV loss 21293372
esv3625764 CNV gain 21293372
esv3891957 CNV gain 25118596
nsv508619 CNV deletion 20534489
nsv7720 CNV deletion 18451855

Variation tolerance for BBOX1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BBOX1 Gene

Human Gene Mutation Database (HGMD)
BBOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBOX1
Leiden Open Variation Database (LOVD)
BBOX1

SNP Genotyping and Copy Number Assays for research

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

Disorders for BBOX1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BBOX1 Gene - From: COP

Disorder Aliases PubMed IDs
autosomal recessive limb-girdle muscular dystrophy type 2h
  • lgmd2h
erysipeloid
  • infection due to erysipelothrix rhusiopathiae
opitz-gbbb syndrome
  • opitz g/bbb syndrome
mulibrey nanism
  • muscle-liver-brain-eye nanism
bardet-biedl syndrome 11
  • bbs11
- elite association - COSMIC cancer census association via MalaCards
Search BBOX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BBOX1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BBOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BBOX1 Gene

Publications for BBOX1 Gene

  1. Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. (PMID: 9753662) Vaz FM … Wanders RJ (Biochemical and biophysical research communications 1998) 2 3 4 22
  2. Crystal structure of human gamma-butyrobetaine hydroxylase. (PMID: 20599753) Tars K … Dambrova M (Biochemical and biophysical research communications 2010) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 40

Products for BBOX1 Gene

Sources for BBOX1 Gene