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Bbox1 gamma-butyrobetaine hydroxylase 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 64564, updated on 2-Nov-2024

Summary

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Official Symbol
Bbox1provided by RGD
Official Full Name
gamma-butyrobetaine hydroxylase 1provided by RGD
Primary source
RGD:619756
See related
EnsemblRapid:ENSRNOG00000059519 AllianceGenome:RGD:619756
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
Bbh; Bbox
Summary
Enables gamma-butyrobetaine dioxygenase activity. Predicted to be involved in carnitine biosynthetic process. Predicted to be active in cytosol and mitochondrion. Orthologous to human BBOX1 (gamma-butyrobetaine hydroxylase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward (RPKM 838.6) See more
Orthologs
human mouse all
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Genomic context

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See Bbox1 in Genome Data Viewer
Location:
3q34
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (117277226..117326383, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (96822654..96871786, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (101425684..101474848, complement)

Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 5, pseudogene 9 Neighboring gene uncharacterized LOC134486420 Neighboring gene uncharacterized LOC120101622 Neighboring gene fin bud initiation factor homolog Neighboring gene solute carrier family 5 member 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. A high-fat diet increases L-carnitine synthesis through a differential maturation of the Bbox1 mRNAs. Rigault C, et al. Biochim Biophys Acta, 2013 Feb. PMID 23127966
  2. Carnitine deficiency and supplementation do not affect the gene expression of carnitine biosynthetic enzymes in rats. Davis AT, et al. J Nutr, 2005 Apr. PMID 15795431
  3. Thyroid hormone controls carnitine status through modifications of gamma-butyrobetaine hydroxylase activity and gene expression. Galland S, et al. Cell Mol Life Sci, 2002 Mar. PMID 11964131, Free PMC Article
  4. The effects of exercise training on γ-butyrobetaine hydroxylase and novel organic cation transporter-2 gene expression in the rat. Broderick TL, et al. Appl Physiol Nutr Metab, 2011 Dec. PMID 22014179
  5. Molecular cloning and characterization of the cDNA encoding the rat liver gamma-butyrobetaine hydroxylase. Galland S, et al. Biochim Biophys Acta, 1999 Oct 18. PMID 10526231

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data suggest that expression of BBH mRNA and protein is up-regulated in liver with training in physical activity; in kidney, only BBH mRNA expression is up-regulated.
    Title: The effects of exercise training on γ-butyrobetaine hydroxylase and novel organic cation transporter-2 gene expression in the rat.
  2. BBH mRNA, however, was detected during the suckling period onwards and its abundance was not changed significantly by maturation
    Title: Ontogeny of Na(+)/L-carnitine transporter and of gamma-trimethylaminobutyraldehyde dehydrogenase and gamma-butyrobetaine hydroxylase genes expression in rat kidney.
  3. Alterations in enzyme activities in the pivalate-treated rats are not regulated at the transcriptional level, and are apparently related to post-transcriptional effects on the enzymes themselves.
    Title: Carnitine deficiency and supplementation do not affect the gene expression of carnitine biosynthetic enzymes in rats.
  4. Thyroid hormone controls carnitine status through modifications of gamma-butyrobetaine hydroxylase activity and gene expression
    Title: Thyroid hormone controls carnitine status through modifications of gamma-butyrobetaine hydroxylase activity and gene expression.
Submit: New GeneRIF Correction

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables gamma-butyrobetaine dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables gamma-butyrobetaine dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables gamma-butyrobetaine dioxygenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables gamma-butyrobetaine dioxygenase activity ISO
Inferred from Sequence Orthology
more info
  
enables gamma-butyrobetaine dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables gamma-butyrobetaine dioxygenase activity TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
  
enables zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in carnitine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carnitine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carnitine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in carnitine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in carnitine biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol ISO
Inferred from Sequence Orthology
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
gamma-butyrobetaine dioxygenase
Names
butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase)
gamma butyrobetaine hydroxylase
gamma-BBH
gamma-butyrobetaine,2-oxoglutarate dioxygenase
NP_001400104.1
NP_072151.1
XP_038961728.1
XP_038961729.1
XP_038961730.1
XP_038961732.1
XP_063140593.1
XP_063140594.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001413175.2 → NP_001400104.1  gamma-butyrobetaine dioxygenase

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/Swiss-Prot
    Q9QZU7
    UniProtKB/TrEMBL
    A6HP13
    Related
    ENSRNOP00000073497.2, ENSRNOT00000080175.3

  2. NM_001429455.1 → NP_001416384.1  gamma-butyrobetaine dioxygenase

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/Swiss-Prot
    Q9QZU7
    UniProtKB/TrEMBL
    A6HP13

  3. NM_001429456.1 → NP_001416385.1  gamma-butyrobetaine dioxygenase

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/Swiss-Prot
    Q9QZU7
    UniProtKB/TrEMBL
    A6HP13

  4. NM_001429457.1 → NP_001416386.1  gamma-butyrobetaine dioxygenase

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/Swiss-Prot
    Q9QZU7
    UniProtKB/TrEMBL
    A6HP13

  5. NM_001429458.1 → NP_001416387.1  gamma-butyrobetaine dioxygenase

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/Swiss-Prot
    Q9QZU7
    UniProtKB/TrEMBL
    A6HP13

  6. NM_022629.3 → NP_072151.1  gamma-butyrobetaine dioxygenase

    See identical proteins and their annotated locations for NP_072151.1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/Swiss-Prot
    Q9QZU7
    UniProtKB/TrEMBL
    A0A0G2K5N7, A6HP13
    Conserved Domains (1) summary
    cl00184
    Location:16 → 381
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086021.1 Reference GRCr8

    Range
    117277226..117326383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039105801.2 → XP_038961729.1  gamma-butyrobetaine dioxygenase isoform X1

    Conserved Domains (1) summary
    cl00184
    Location:16 → 381
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

  2. XM_039105804.2 → XP_038961732.1  gamma-butyrobetaine dioxygenase isoform X1

    Conserved Domains (1) summary
    cl00184
    Location:16 → 381
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

  3. XM_039105802.2 → XP_038961730.1  gamma-butyrobetaine dioxygenase isoform X1

    UniProtKB/Swiss-Prot
    Q9QZU7
    UniProtKB/TrEMBL
    A0A0G2K5N7, A6HP13
    Conserved Domains (1) summary
    cl00184
    Location:16 → 381
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

  4. XM_063284523.1 → XP_063140593.1  gamma-butyrobetaine dioxygenase isoform X1

  5. XM_039105800.2 → XP_038961728.1  gamma-butyrobetaine dioxygenase isoform X1

    Conserved Domains (1) summary
    cl00184
    Location:16 → 381
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

  6. XM_063284524.1 → XP_063140594.1  gamma-butyrobetaine dioxygenase isoform X2

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QZU7.1 GenPept UniProtKB/Swiss-Prot:Q9QZU7

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