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BBOX1 Gene(Protein Coding)

Gamma-Butyrobetaine Hydroxylase 1

GCID:
GC11P027019
GIFtS:
50
Genes Participants
UDN Logo

Aliases for BBOX1 Gene

Aliases for BBOX1 Gene

  • Gamma-Butyrobetaine Hydroxylase 1 2 3 5
  • Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 1 2 3
  • Gamma-BBH 3 4
  • BBOX 3 4
  • BBH 3 4
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 1 3
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 4
  • Gamma-Butyrobetaine Dioxygenase 3
  • Gamma-Butyrobetaine Hydroxylase 4
  • EC 1.14.11.1 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 (Gamma-Butyrobetaine Hydroxylase 1) is a Protein Coding gene. Diseases associated with BBOX1 include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H and Opitz-Gbbb Syndrome. Among its related pathways are Viral mRNA Translation 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 for BBOX1 Gene

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

Gene Wiki entry for BBOX1 Gene

Additional gene information for BBOX1 Gene

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

Genomics for BBOX1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for BBOX1 Gene

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
GH11I027040 Promoter/Enhancer 1.1 EPDnew ENCODE 559.1 +0.4 383 2 SCRT1 CTCF PKNOX1 RFX1 CEBPB CEBPG ATF2 RAD21 SCRT2 CREB1 BBOX1 GC11P027065 GC11P027062 GC11P027055
GH11I027011 Enhancer 0.9 Ensembl ENCODE 9.1 -28.2 -28236 1.7 ZNF133 FEZF1 ZNF335 ZSCAN5C RCOR1 FOS ZNF600 ZNF518A ZSCAN21 PRDM6 BBOX1 GC11P026998
GH11I027158 Enhancer 0.7 ENCODE 9 +118.3 118254 0.2 CTCF JUN BATF RAD21 RFX5 GTF3C2 FOSL1 POLR3A ZNF143 SMC3 METTL15 BBOX1 GC11P027127 LOC105376600 BBOX1-AS1
GH11I027054 Enhancer 0.9 ENCODE 6.6 +14.7 14727 1.2 FOXA2 MLX ARID4B SIN3A ZNF48 ETS1 TCF12 RXRA PPARG NFIL3 GC11P027058 GC11P027059 GC11P027060 GC11P027061 GC11P027062 GC11P027063 GC11P027064 GC11P027065 GC11P027066 GC11P027067
GH11I026776 Enhancer 0.7 Ensembl ENCODE 5.1 -262.4 -262422 2.9 POLR2A ETV6 RUNX3 MAFK BBOX1 GC11P026772 GC11M026911
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BBOX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BBOX1 gene promoter:

Genomic Locations for BBOX1 Gene

Genomic Locations for BBOX1 Gene
chr11:27,040,705-27,127,809
(GRCh38/hg38)
Size:
87,105 bases
Orientation:
Plus strand
chr11:27,062,272-27,149,356
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for BBOX1 Gene

Proteins for BBOX1 Gene

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  2. Protein
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  • 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

Protein Expression for BBOX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BBOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BBOX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BBOX1 Gene

GenScript: Design optimal peptide antigens:

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 EXP,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:

Animal Model Products

CRISPR Products

miRNA for BBOX1 Gene

miRTarBase miRNAs that target BBOX1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BBOX1

No data available for Phenotypes From GWAS Catalog , 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
extracellular 5
cytosol 5
mitochondrion 3
nucleus 3
cytoskeleton 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BBOX1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BBOX1 Gene

Pathways & Interactions 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

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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Vitamin C Approved Nutra Target 581,581
Oxygen Approved, Vet_approved Pharma 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
L-Carnitine Approved, Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydroxycarnitine
4-Trimethylammoniobutanoic acid
  • 4-(N-Trimethylamino)butyrate
  • 4-Butyrobetaine
  • 4-Trimethylammoniobutanoate
  • 4-Trimethylammoniobutanoic acid
  • Actinine
 407-64-7
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
 15438-31-0
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
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
 56-18-8
genes like me logo Genes that share compounds with BBOX1: view

Transcripts for BBOX1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BBOX1 Gene

(6) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(98) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BBOX1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
BBOX1

Expression for BBOX1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BBOX1 Gene

mRNA expression in normal human tissues for BBOX1 Gene
mRNA expression by GTEx for BBOX1 GenemRNA expression by BioGPS 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, PaxDb, and MOPED for BBOX1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BBOX1 Gene:

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(4.7)
  • Nervous system(4.7)
  • Liver(4.5)
  • Skin(2)
genes like me logo Genes that share expression patterns with BBOX1: view

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 33 34
  • 99.57 (n)
cow
(Bos Taurus)
 Mammalia BBOX1 33 34
  • 87.77 (n)
dog
(Canis familiaris)
 Mammalia BBOX1 33 34
  • 87.77 (n)
mouse
(Mus musculus)
 Mammalia Bbox1 33 16 34
  • 86.3 (n)
rat
(Rattus norvegicus)
 Mammalia Bbox1 33
  • 85.1 (n)
oppossum
(Monodelphis domestica)
 Mammalia BBOX1 34
  • 79 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia BBOX1 34
  • 76 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BBOX1 33 34
  • 68.83 (n)
lizard
(Anolis carolinensis)
 Reptilia BBOX1 34
  • 59 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bbox1 33
  • 65.97 (n)
Str.15406 33
zebrafish
(Danio rerio)
 Actinopterygii bbox1 33 34
  • 60.24 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.7154 33
fruit fly
(Drosophila melanogaster)
 Insecta CG5321 35 33 34
  • 46.08 (n)
EG:BACR7A4.9 35
  • 36 (a)
CG10814 35 34
  • 35 (a)
CG14630 34
  • 31 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008246 33
  • 44.98 (n)
worm
(Caenorhabditis elegans)
 Secernentea gbh-1 35 33 34
  • 46.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AIM17 34
  • 14 (a)
 OneToMany
bread mold
(Neurospora crassa)
 Ascomycetes NCU06891 33
  • 42.75 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 26 (a)
 OneToOne
Species where no ortholog for BBOX1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for BBOX1 (if available)
TreeFam:
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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for BBOX1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000019485 -- 27,044,573(+) C/A intron_variant
rs1000079446 -- 27,103,484(+) A/C intron_variant
rs1000173477 -- 27,061,426(+) C/T intron_variant
rs1000207289 -- 27,118,929(+) A/C intron_variant
rs1000273333 -- 27,110,012(+) C/A intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BBOX1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BBOX1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
autosomal recessive limb-girdle muscular dystrophy type 2h
  • lgmd2h
opitz-gbbb syndrome
  • opitz g/bbb syndrome
vertebrobasilar insufficiency
  • vertebro-basilar insufficiency
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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. 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 44 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Crystal structure of human gamma-butyrobetaine hydroxylase. (PMID: 20599753) Tars K … Dambrova M (Biochemical and biophysical research communications 2010) 3 4 58
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58

Products for BBOX1 Gene

  • Addgene plasmids for BBOX1

Sources for BBOX1 Gene

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