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

    Gene ID: 8424, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See BBOX1 in Genome Data Viewer
    Location:
    11p14.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (27040815..27127809)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (27181297..27268300)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Carnitine biosynthesis in hepatic peroxisomes. Demonstration of gamma-butyrobetaine hydroxylase activity. Paul HS, et al. Eur J Biochem, 1992 Feb 1. PMID 1735445
    2. Ascorbic acid and carnitine biosynthesis. Rebouche CJ. Am J Clin Nutr, 1991 Dec. PMID 1962562
    3. gamma-Butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant. Olson AL, et al. J Nutr, 1987 Jun. PMID 3110383
    4. Rat liver gamma-butyrobetaine hydroxylase catalyzed reaction: influence of potassium, substrates, and substrate analogues on hydroxylation and decarboxylation. Wehbie RS, et al. Biochemistry, 1988 Mar 22. PMID 3378057
    5. Bioinformatics-based discovery of the urinary BBOX1 mRNA as a potential biomarker of diabetic kidney disease. Zhou LT, et al. J Transl Med, 2019 Feb 28. PMID 30819181, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long non-coding RNA BBOX1-antisense RNA 1 enhances cell proliferation and migration and suppresses apoptosis in oral squamous cell carcinoma via the miR-3940-3p/laminin subunit gamma 2 axis.
      Title: Long non-coding RNA BBOX1-antisense RNA 1 enhances cell proliferation and migration and suppresses apoptosis in oral squamous cell carcinoma via the miR-3940-3p/laminin subunit gamma 2 axis.
    2. BBOX1 antisense RNA 1 facilitates CC progression by upregulating HOXC6 expression via miR-361-3p and HuR.
      Title: LncRNA BBOX1-AS1 upregulates HOXC6 expression through miR-361-3p and HuR to drive cervical cancer progression.
    3. urinary BBOX1 might serve as a promising biomarker of diabetic kidney disease.
      Title: Bioinformatics-based discovery of the urinary BBOX1 mRNA as a potential biomarker of diabetic kidney disease.
    4. BBOX 1 might be one of several genes that play a role in polygenic susceptibility to schizophrenia.
      Title: BBOX1 is down-regulated in maternal immune-activated mice and implicated in genetic susceptibility to human schizophrenia.
    5. the three-dimensional structure of recombinant human GBBH at 2.0A resolution was solved.
      Title: Crystal structure of human gamma-butyrobetaine hydroxylase.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. the use of 3 different promoters is responsible for the 5'-end heterogeneity
      Title: Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-butyrobetaine dioxygenase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    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
    		  
    involved_in carnitine biosynthetic process TAS
    Traceable Author Statement
    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

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    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)

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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_001376258.1 → NP_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:16 → 381
      carnitine_bodg; gamma-butyrobetaine hydroxylase

    2. NM_001376259.1 → NP_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:16 → 381
      carnitine_bodg; gamma-butyrobetaine hydroxylase

    3. NM_001376260.1 → NP_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:16 → 381
      carnitine_bodg; gamma-butyrobetaine hydroxylase

    4. NM_001376261.1 → NP_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:16 → 381
      carnitine_bodg; gamma-butyrobetaine hydroxylase

    5. NM_003986.3 → NP_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:16 → 381
      carnitine_bodg; gamma-butyrobetaine hydroxylase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047427692.1 → XP_047283648.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
      Related
      ENSP00000435781.1, ENST00000529202.5

    2. XM_011520402.2 → XP_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:16 → 381
      carnitine_bodg; gamma-butyrobetaine hydroxylase

    3. XM_047427693.1 → XP_047283649.1  gamma-butyrobetaine dioxygenase isoform X1

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

    4. XM_047427691.1 → XP_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_054370160.1 → XP_054226135.1  gamma-butyrobetaine dioxygenase isoform X1

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

    2. XM_054370159.1 → XP_054226134.1  gamma-butyrobetaine dioxygenase isoform X1

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

    3. XM_054370161.1 → XP_054226136.1  gamma-butyrobetaine dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      B2R8L7, D3DQZ1, O75936, Q6IBJ2
      UniProtKB/TrEMBL
      A8K243
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75936.1 GenPept UniProtKB/Swiss-Prot:O75936

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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