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Aliases for BBOX1 Gene

Aliases for BBOX1 Gene

  • Gamma-Butyrobetaine Hydroxylase 1 2 3
  • Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 1 2 3 5
  • Gamma-Butyrobetaine Hydroxylase 3 4
  • Gamma-BBH 3 4
  • BBOX 3 4
  • BBH 3 4
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 1 3
  • Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 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 opitz-gbbb syndrome. Among its related pathways are Metabolism and Viral mRNA Translation. 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

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

Chromosome:
11
Start:
27,040,705 bp from pter
End:
27,127,809 bp from pter
Size:
87,105 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

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

No data available for DME Specific Peptides for BBOX1 Gene

Domains & Families for BBOX1 Gene

Protein Domains for BBOX1 Gene

InterPro:
ProtoNet:

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

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:0008336 gamma-butyrobetaine dioxygenase activity TAS --
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

miRNA for BBOX1 Gene

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
Jensen Localization Image for BBOX1 Gene COMPARTMENTS Subcellular localization image for BBOX1 gene
Compartment Confidence
cytosol 5
extracellular 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:0005739 mitochondrion IEA --
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

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 --
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

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

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 424,424
L-Carnitine Approved Pharma 0
spermine Approved Nutra Full agonist, Agonist 0
putrescine Experimental Pharma Antagonist, Pore Blocker 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
3-Dehydroxycarnitine
4-Trimethylammoniobutanoic acid
  • 4-(N-Trimethylamino)butyrate
  • 4-Butyrobetaine
  • 4-Trimethylammoniobutanoate
  • 4-Trimethylammoniobutanoic acid
  • Actinine
407-64-7
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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:

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

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 (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



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.
genes like me logo Genes that share expression patterns with BBOX1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-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
cow
(Bos Taurus)
Mammalia BBOX1 35
  • 87.77 (n)
  • 87.08 (a)
BBOX1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBOX1 35
  • 87.77 (n)
  • 89.66 (a)
BBOX1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbox1 35
  • 86.3 (n)
  • 89.15 (a)
Bbox1 16
Bbox1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BBOX1 35
  • 99.57 (n)
  • 100 (a)
BBOX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbox1 35
  • 85.1 (n)
  • 88.37 (a)
oppossum
(Monodelphis domestica)
Mammalia BBOX1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBOX1 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves BBOX1 35
  • 68.83 (n)
  • 68.83 (a)
BBOX1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBOX1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bbox1 35
  • 65.97 (n)
  • 62.92 (a)
Str.15406 35
zebrafish
(Danio rerio)
Actinopterygii bbox1 35
  • 60.24 (n)
  • 59.64 (a)
bbox1 36
  • 53 (a)
OneToOne
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)
OneToMany
CG14630 36
  • 31 (a)
OneToMany
CG5321 36
  • 33 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008246 35
  • 44.98 (n)
  • 37.18 (a)
worm
(Caenorhabditis elegans)
Secernentea gbh-1 37
  • 33 (a)
gbh-1 35
  • 46.19 (n)
  • 34.91 (a)
gbh-1 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM17 36
  • 14 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06891 35
  • 42.75 (n)
  • 33.52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToOne
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

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

Sequence variations from dbSNP and Humsavar for BBOX1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs979894 -- 27,040,143(-) AACCT(C/T)TTTTC upstream-variant-2KB
rs963185 -- 27,040,343(-) GATTC(A/G)CAGGG upstream-variant-2KB
rs2351065 -- 27,044,776(+) ctgtt(C/T)tgttc intron-variant
rs4922782 -- 27,043,298(+) gacct(C/T)gtgat intron-variant
rs4923413 -- 27,043,418(+) gtgca(C/G)gtttg intron-variant

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

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)

Relevant External Links for BBOX1 Gene

HapMap Linkage Disequilibrium report
BBOX1
Human Gene Mutation Database (HGMD)
BBOX1

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

Disorders for BBOX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BBOX1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
opitz-gbbb syndrome
  • opitz g/bbb syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BBOX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BBOX1

Genetic Association Database (GAD)
BBOX1
Human Genome Epidemiology (HuGE) Navigator
BBOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBOX1
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 F.M. … Wanders R.J.A. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 23 67
  2. Ascorbic acid and carnitine biosynthesis. (PMID: 1962562) Rebouche C.J. (Am. J. Clin. Nutr. 1991) 3 25 26
  3. Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. (PMID: 17110165) Rigault C. … Demarquoy J. (Biochim. Biophys. Acta 2006) 3 23
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for BBOX1 Gene

Sources for BBOX1 Gene

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