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

Gene ID: 8424, updated on 2-Nov-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
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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: HPA RNA-seq normal tissues 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

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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
    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

  4. XM_047427691.1 → XP_047283647.1  gamma-butyrobetaine dioxygenase isoform X1

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

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

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

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

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

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