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    BBOX1 gamma-butyrobetaine hydroxylase 1 [ Homo sapiens (human) ]

    Gene ID: 8424, updated on 17-Jun-2024

    Summary

    Official Symbol
    BBOX1provided by HGNC
    Official Full Name
    gamma-butyrobetaine hydroxylase 1provided by HGNC
    Primary source
    HGNC:HGNC:964
    See related
    Ensembl:ENSG00000129151 MIM:603312; AllianceGenome:HGNC:964
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBH; BBOX; G-BBH; gamma-BBH
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 100.1), liver (RPKM 20.3) and 3 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BBOX1 in Genome Data Viewer
    Location:
    11p14.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (27040815..27127809)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (27181297..27268300)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (27062362..27149356)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902650 Neighboring gene fin bud initiation factor homolog Neighboring gene BBOX1 antisense RNA 1 Neighboring gene uncharacterized LOC124902651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:27237385-27237890 Neighboring gene 11p14.2 proximal LINE-mediated recombination region Neighboring gene uncharacterized LOC105376600

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carnitine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carnitine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carnitine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome 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 (gamma-butyrobetaine hydroxylase) 1
    gamma-butyrobetaine,2-oxoglutarate dioxygenase 1
    NP_001363187.1
    NP_001363188.1
    NP_001363189.1
    NP_001363190.1
    NP_003977.1
    XP_011518704.1
    XP_047283647.1
    XP_047283648.1
    XP_047283649.1
    XP_054226134.1
    XP_054226135.1
    XP_054226136.1

    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_001376258.1NP_001363187.1  gamma-butyrobetaine dioxygenase

      Status: REVIEWED

      Source sequence(s)
      AC015756, AC016450, KF455343
      Consensus CDS
      CCDS7862.1
      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Conserved Domains (1) summary
      TIGR02409
      Location:16381
      carnitine_bodg; gamma-butyrobetaine hydroxylase
    2. NM_001376259.1NP_001363188.1  gamma-butyrobetaine dioxygenase

      Status: REVIEWED

      Source sequence(s)
      AC015756, AC016450, KF455343
      Consensus CDS
      CCDS7862.1
      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Conserved Domains (1) summary
      TIGR02409
      Location:16381
      carnitine_bodg; gamma-butyrobetaine hydroxylase
    3. NM_001376260.1NP_001363189.1  gamma-butyrobetaine dioxygenase

      Status: REVIEWED

      Source sequence(s)
      AC015756, AC016450, KF455343
      Consensus CDS
      CCDS7862.1
      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Conserved Domains (1) summary
      TIGR02409
      Location:16381
      carnitine_bodg; gamma-butyrobetaine hydroxylase
    4. NM_001376261.1NP_001363190.1  gamma-butyrobetaine dioxygenase

      Status: REVIEWED

      Source sequence(s)
      AC015756, AC016450, KF455343
      Consensus CDS
      CCDS7862.1
      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Conserved Domains (1) summary
      TIGR02409
      Location:16381
      carnitine_bodg; gamma-butyrobetaine hydroxylase
    5. NM_003986.3NP_003977.1  gamma-butyrobetaine dioxygenase

      See identical proteins and their annotated locations for NP_003977.1

      Status: REVIEWED

      Source sequence(s)
      AC015756, AC016450, AF082868, DA268467
      Consensus CDS
      CCDS7862.1
      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Related
      ENSP00000263182.3, ENST00000263182.8
      Conserved Domains (1) summary
      TIGR02409
      Location:16381
      carnitine_bodg; gamma-butyrobetaine hydroxylase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      27040815..27127809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427692.1XP_047283648.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Related
      ENSP00000435781.1, ENST00000529202.5
    2. XM_011520402.2XP_011518704.1  gamma-butyrobetaine dioxygenase isoform X1

      See identical proteins and their annotated locations for XP_011518704.1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Conserved Domains (1) summary
      TIGR02409
      Location:16381
      carnitine_bodg; gamma-butyrobetaine hydroxylase
    3. XM_047427693.1XP_047283649.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
    4. XM_047427691.1XP_047283647.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Related
      ENSP00000433772.1, ENST00000525090.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      27181297..27268300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370160.1XP_054226135.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
    2. XM_054370159.1XP_054226134.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
    3. XM_054370161.1XP_054226136.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243