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

Gene ID: 8424, updated on 7-Dec-2018

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
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

Genomic context

See BBOX1 in Genome Data Viewer
Location:
11p14.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (27040705..27127807)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (27062252..27149354)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene 11p14.2 distal LINE-mediated recombination region Neighboring gene fin bud initiation factor homolog Neighboring gene BBOX1 antisense RNA 1 Neighboring gene 11p14.2 proximal LINE-mediated recombination region Neighboring gene uncharacterized LOC105376600 Neighboring gene uncharacterized LOC105376601

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
    Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
  • Carnitine synthesis, organism-specific biosystem (from REACTOME)
    Carnitine synthesis, organism-specific biosystemCarnitine is synthesized in four steps from trimethyllysine (generated in turn by the S-adenosyl-methionine-mediated methylation of lysine residues in proteins, followed by protein hydrolysis). The e...
  • L-carnitine biosynthesis, organism-specific biosystem (from BIOCYC)
    L-carnitine biosynthesis, organism-specific biosystemGeneral Background : CARNITINE is a zwitterionic, quaternary amine carboxylate that has essential roles in intermediary metabolism including energy metabolism, hormonal action and stress adaptation....
  • L-carnitine biosynthesis, conserved biosystem (from BIOCYC)
    L-carnitine biosynthesis, conserved biosystemGeneral Background |FRAME: CARNITINE| is a zwitterionic, quaternary amine carboxylate. It has essential roles in intermediary metabolism including energy metabolism, hormonal action and stress adap...
  • Lysine degradation, organism-specific biosystem (from KEGG)
    Lysine degradation, organism-specific biosystem
    Lysine degradation
  • Lysine degradation, conserved biosystem (from KEGG)
    Lysine degradation, conserved biosystem
    Lysine degradation
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-butyrobetaine dioxygenase activity EXP
Inferred from Experiment
more info
PubMed 
gamma-butyrobetaine dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-butyrobetaine dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
gamma-butyrobetaine dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
carnitine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carnitine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
carnitine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
carnitine biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_003977.1
XP_005253216.1
XP_005253217.1
XP_005253218.1
XP_011518704.1
XP_016873892.1

NCBI Reference Sequences (RefSeq)

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_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
    O75936
    Related
    ENSP00000263182.3, ENST00000263182.7
    Conserved Domains (1) summary
    TIGR02409
    Location:16381
    carnitine_bodg; gamma-butyrobetaine hydroxylase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    27040705..27127807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253159.2XP_005253216.1  gamma-butyrobetaine dioxygenase isoform X1

    See identical proteins and their annotated locations for XP_005253216.1

    UniProtKB/Swiss-Prot
    O75936
    Conserved Domains (1) summary
    TIGR02409
    Location:16381
    carnitine_bodg; gamma-butyrobetaine hydroxylase
  2. XM_011520402.1XP_011518704.1  gamma-butyrobetaine dioxygenase isoform X1

    See identical proteins and their annotated locations for XP_011518704.1

    UniProtKB/Swiss-Prot
    O75936
    Conserved Domains (1) summary
    TIGR02409
    Location:16381
    carnitine_bodg; gamma-butyrobetaine hydroxylase
  3. XM_005253160.2XP_005253217.1  gamma-butyrobetaine dioxygenase isoform X1

    See identical proteins and their annotated locations for XP_005253217.1

    UniProtKB/Swiss-Prot
    O75936
    Related
    ENSP00000435781.1, ENST00000529202.5
    Conserved Domains (1) summary
    TIGR02409
    Location:16381
    carnitine_bodg; gamma-butyrobetaine hydroxylase
  4. XM_005253161.2XP_005253218.1  gamma-butyrobetaine dioxygenase isoform X1

    See identical proteins and their annotated locations for XP_005253218.1

    UniProtKB/Swiss-Prot
    O75936
    Conserved Domains (1) summary
    TIGR02409
    Location:16381
    carnitine_bodg; gamma-butyrobetaine hydroxylase
  5. XM_017018403.2XP_016873892.1  gamma-butyrobetaine dioxygenase isoform X1

    UniProtKB/Swiss-Prot
    O75936
    Related
    ENSP00000433772.1, ENST00000525090.1
    Conserved Domains (1) summary
    TIGR02409
    Location:16381
    carnitine_bodg; gamma-butyrobetaine hydroxylase
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