Bbox1 gamma-butyrobetaine hydroxylase 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bbox1provided by RGD
Official Full Name: gamma-butyrobetaine hydroxylase 1provided by RGD
Primary source: RGD:619756
See related: EnsemblRapid:ENSRNOG00000059519 AllianceGenome:RGD:619756
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Bbh; Bbox
Summary: Enables gamma-butyrobetaine dioxygenase activity. Predicted to be involved in carnitine biosynthetic process. Predicted to be active in cytosol and mitochondrion. Orthologous to human BBOX1 (gamma-butyrobetaine hydroxylase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward (RPKM 838.6) See more
Orthologs: human mouse all
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Genomic context

Location:: 3q34

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (117277226..117326383, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (96822654..96871786, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (101425684..101474848, complement)

Chromosome 3 - NC_086021.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that expression of BBH mRNA and protein is up-regulated in liver with training in physical activity; in kidney, only BBH mRNA expression is up-regulated.
Title: The effects of exercise training on γ-butyrobetaine hydroxylase and novel organic cation transporter-2 gene expression in the rat.
BBH mRNA, however, was detected during the suckling period onwards and its abundance was not changed significantly by maturation
Title: Ontogeny of Na(+)/L-carnitine transporter and of gamma-trimethylaminobutyraldehyde dehydrogenase and gamma-butyrobetaine hydroxylase genes expression in rat kidney.
Alterations in enzyme activities in the pivalate-treated rats are not regulated at the transcriptional level, and are apparently related to post-transcriptional effects on the enzymes themselves.
Title: Carnitine deficiency and supplementation do not affect the gene expression of carnitine biosynthetic enzymes in rats.
Thyroid hormone controls carnitine status through modifications of gamma-butyrobetaine hydroxylase activity and gene expression
Title: Thyroid hormone controls carnitine status through modifications of gamma-butyrobetaine hydroxylase activity and gene expression.

Submit: New GeneRIF Correction

General gene information

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Markers

RH131044 (e-PCR)
- UniSTS:214327

AI170038 (e-PCR)
- UniSTS:250303

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables gamma-butyrobetaine dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-butyrobetaine dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables gamma-butyrobetaine dioxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables gamma-butyrobetaine dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables gamma-butyrobetaine dioxygenase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables gamma-butyrobetaine dioxygenase activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in carnitine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in carnitine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in carnitine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in carnitine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in carnitine biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	ISO Inferred from Sequence Orthology more info
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; butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase); gamma butyrobetaine hydroxylase; gamma-BBH; gamma-butyrobetaine,2-oxoglutarate dioxygenase

NP_001400104.1

EC 1.14.11.1

NP_072151.1

EC 1.14.11.1

XP_038961728.1

EC 1.14.11.1

XP_038961729.1

EC 1.14.11.1

XP_038961730.1

EC 1.14.11.1

XP_038961732.1

EC 1.14.11.1

XP_063140593.1

EC 1.14.11.1

XP_063140594.1

EC 1.14.11.1

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)

NM_001413175.2 → NP_001400104.1 gamma-butyrobetaine dioxygenase

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q9QZU7

UniProtKB/TrEMBL

A0A0G2K5N7, A6HP13

Related

ENSRNOP00000073497.2, ENSRNOT00000080175.3
NM_001429455.1 → NP_001416384.1 gamma-butyrobetaine dioxygenase

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q9QZU7

UniProtKB/TrEMBL

A0A0G2K5N7, A6HP13
NM_001429456.1 → NP_001416385.1 gamma-butyrobetaine dioxygenase

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q9QZU7

UniProtKB/TrEMBL

A0A0G2K5N7, A6HP13
NM_001429457.1 → NP_001416386.1 gamma-butyrobetaine dioxygenase

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q9QZU7

UniProtKB/TrEMBL

A0A0G2K5N7, A6HP13
NM_001429458.1 → NP_001416387.1 gamma-butyrobetaine dioxygenase

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q9QZU7

UniProtKB/TrEMBL

A0A0G2K5N7, A6HP13
NM_022629.3 → NP_072151.1 gamma-butyrobetaine dioxygenase

See identical proteins and their annotated locations for NP_072151.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q9QZU7

UniProtKB/TrEMBL

A0A0G2K5N7, A6HP13

Conserved Domains (1) summary

cl00184
Location:16 → 381

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086021.1 Reference GRCr8

Range

117277226..117326383 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039105801.2 → XP_038961729.1 gamma-butyrobetaine dioxygenase isoform X1

Conserved Domains (1) summary

cl00184
Location:16 → 381

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
XM_039105804.2 → XP_038961732.1 gamma-butyrobetaine dioxygenase isoform X1

Conserved Domains (1) summary

cl00184
Location:16 → 381

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
XM_039105802.2 → XP_038961730.1 gamma-butyrobetaine dioxygenase isoform X1

UniProtKB/Swiss-Prot

Q9QZU7

UniProtKB/TrEMBL

A0A0G2K5N7, A6HP13

Conserved Domains (1) summary

cl00184
Location:16 → 381

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
XM_063284523.1 → XP_063140593.1 gamma-butyrobetaine dioxygenase isoform X1
XM_039105800.2 → XP_038961728.1 gamma-butyrobetaine dioxygenase isoform X1

Conserved Domains (1) summary

cl00184
Location:16 → 381

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
XM_063284524.1 → XP_063140594.1 gamma-butyrobetaine dioxygenase isoform X2