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

Gene ID: 8424, updated on 8-Jul-2021

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
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Genomic context

See BBOX1 in Genome Data Viewer
Location:
11p14.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (27040705..27127809)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (27062362..27149356)

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gamma-butyrobetaine dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
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_001363187.1
NP_001363188.1
NP_001363189.1
NP_001363190.1
NP_003977.1
XP_011518704.1

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_001376258.1NP_001363187.1  gamma-butyrobetaine dioxygenase

    Status: REVIEWED

    Source sequence(s)
    AC015756, AC016450, KF455343
    Related
    ENSP00000434918.1, ENST00000528583.5
    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
    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
    Related
    ENSP00000435781.1, ENST00000529202.5
    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
    Related
    ENSP00000433772.1, ENST00000525090.1
    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
    O75936
    Related
    ENSP00000263182.3, ENST00000263182.8
    Conserved Domains (1) summary
    TIGR02409
    Location:16381
    carnitine_bodg; gamma-butyrobetaine hydroxylase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    27040705..27127809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
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