Bbox1 gamma-butyrobetaine hydroxylase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bbox1provided by MGI
Official Full Name: gamma-butyrobetaine hydroxylase 1provided by MGI
Primary source: MGI:MGI:1891372
See related: Ensembl:ENSMUSG00000041660 AllianceGenome:MGI:1891372
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables gamma-butyrobetaine dioxygenase activity. Involved in carnitine biosynthetic process. Located in mitochondrion. Is active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and retina. Orthologous to human BBOX1 (gamma-butyrobetaine hydroxylase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver adult (RPKM 13.2), liver E18 (RPKM 5.3) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E3; 2 56.7 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (110094401..110145158, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (110264056..110314813, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BBOX 1 expression was increased in the medial frontal cortex of a mouse model of schizophrenia induced by maternal immune activation.
Title: BBOX1 is down-regulated in maternal immune-activated mice and implicated in genetic susceptibility to human schizophrenia.
study clearly shows that mouse gamma-butyrobetaine dioxygenase is a direct PPARalpha target gene
Title: Mouse γ-butyrobetaine dioxygenase is regulated by peroxisome proliferator-activated receptor α through a PPRE located in the proximal promoter.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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	ISO Inferred from Sequence Orthology more info
enables gamma-butyrobetaine dioxygenase activity	ISS Inferred from Sequence or Structural Similarity more info
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	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	IGI Inferred from Genetic Interaction more info	PubMed
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

Component	Evidence Code	Pubs
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	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 1 (gamma-butyrobetaine hydroxylase); gamma-BBH; gamma-butyrobetaine hydroxylase; gamma-butyrobetaine,2-oxoglutarate dioxygenase

NP_001400091.1

EC 1.14.11.1

NP_569719.1

EC 1.14.11.1

XP_006498886.1

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_001413162.1 → NP_001400091.1 gamma-butyrobetaine dioxygenase

Status: VALIDATED

Source sequence(s)

AL691416, AL845518

UniProtKB/Swiss-Prot

Q924Y0
NM_130452.2 → NP_569719.1 gamma-butyrobetaine dioxygenase

See identical proteins and their annotated locations for NP_569719.1

Status: VALIDATED

Source sequence(s)

AL691416, AL845518

Consensus CDS

CCDS16510.1

UniProtKB/Swiss-Prot

Q924Y0

Related

ENSMUSP00000046302.3, ENSMUST00000046233.9

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 ...

RNA

NR_182116.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL691416, AL845518

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

110094401..110145158 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498823.4 → XP_006498886.1 gamma-butyrobetaine dioxygenase isoform X1

See identical proteins and their annotated locations for XP_006498886.1

UniProtKB/Swiss-Prot

Q924Y0

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 ...