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    Bbox1 gamma-butyrobetaine hydroxylase 1 [ Mus musculus (house mouse) ]

    Gene ID: 170442, updated on 9-Dec-2024

    Summary

    Official Symbol
    Bbox1provided by MGI
    Official Full Name
    gamma-butyrobetaine hydroxylase 1provided by MGI
    Primary source
    MGI:MGI:1891372
    See related
    Ensembl:ENSMUSG00000041660 AllianceGenome:MGI:1891372
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables gamma-butyrobetaine dioxygenase activity. Involved in carnitine biosynthetic process. Located in mitochondrion. Is active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and retina. Orthologous to human BBOX1 (gamma-butyrobetaine hydroxylase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver adult (RPKM 13.2), liver E18 (RPKM 5.3) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Bbox1 in Genome Data Viewer
    Location:
    2 E3; 2 56.7 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (110094401..110145158, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (110264056..110314813, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene predicted gene, 22997 Neighboring gene STARR-seq mESC enhancer starr_05368 Neighboring gene predicted gene, 30319 Neighboring gene fin bud initiation factor homolog (zebrafish) Neighboring gene ribosomal protein S3A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables gamma-butyrobetaine dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gamma-butyrobetaine dioxygenase activity IDA
    Inferred from Direct Assay
    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
     
    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 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 IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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
     
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    gamma-butyrobetaine dioxygenase
    Names
    butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase)
    gamma-BBH
    gamma-butyrobetaine hydroxylase
    gamma-butyrobetaine,2-oxoglutarate dioxygenase
    NP_001400091.1
    NP_569719.1
    XP_006498886.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001413162.1NP_001400091.1  gamma-butyrobetaine dioxygenase

      Status: VALIDATED

      Source sequence(s)
      AL691416, AL845518
      UniProtKB/Swiss-Prot
      Q924Y0
    2. NM_130452.2NP_569719.1  gamma-butyrobetaine dioxygenase

      See identical proteins and their annotated locations for NP_569719.1

      Status: VALIDATED

      Source sequence(s)
      AL691416, AL845518
      Consensus CDS
      CCDS16510.1
      UniProtKB/Swiss-Prot
      Q924Y0
      Related
      ENSMUSP00000046302.3, ENSMUST00000046233.9
      Conserved Domains (1) summary
      cl00184
      Location:16381
      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 ...

    RNA

    1. NR_182116.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691416, AL845518

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      110094401..110145158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498823.4XP_006498886.1  gamma-butyrobetaine dioxygenase isoform X1

      See identical proteins and their annotated locations for XP_006498886.1

      UniProtKB/Swiss-Prot
      Q924Y0
      Conserved Domains (1) summary
      cl00184
      Location:16381
      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 ...