Gulo gulonolactone (L-) oxidase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Guloprovided by MGI
Official Full Name: gulonolactone (L-) oxidaseprovided by MGI
Primary source: MGI:MGI:1353434
See related: Ensembl:ENSMUSG00000034450 AllianceGenome:MGI:1353434
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GLO; LGO; sfx; unh; unhip; 5730581M22
Summary: Enables L-gulonolactone oxidase activity and flavin adenine dinucleotide binding activity. Involved in L-ascorbic acid biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be integral component of membrane. Is expressed in several structures, including cranium; liver; nasal septum; nervous system; and pancreas. Human ortholog(s) of this gene implicated in scurvy. Orthologous to human GULOP (gulonolactone (L-) oxidase, pseudogene). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 119.3), liver E18 (RPKM 17.3) and 2 other tissues See more
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Genomic context

Location:: 14 D1; 14 34.36 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (66224235..66246703, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (65986786..66009254, complement)

Chromosome 14 - NC_000080.7 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?

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Title: Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Ascorbate deficiency decreases dopamine release in gulo(-/-) and APP/PSEN1 mice.
Title: Ascorbate deficiency decreases dopamine release in gulo(-/-) and APP/PSEN1 mice.
Gulo promotes the mesenchymal-to-epithelial transformation and apoptosis, and inhibits proliferation in metanephric mesenchyme cells by down-regulating Six2.
Title: Gulo regulates the proliferation, apoptosis and mesenchymal-to-epithelial transformation of metanephric mesenchyme cells via inhibiting Six2.
Severe vitamin C deficiency is induced in gulo-deficient mice incapable of synthesizing their own ascorbic acid and showing decreased voluntary locomotor activity, diminished physical strength, and increased preference for a palatable sucrose reward.
Title: Behavioral and monoamine changes following severe vitamin C deficiency.
Ascorbate deficiency in Gulo knockout mice leads to an abnormal behavioral phenotype.
Title: Effect of vitamin C deficiency during postnatal development on adult behavior: functional phenotype of Gulo-/- knockout mice.
These data of this study showed a direct relationship between ascorbic acid level and oxidative stress in the gulo(-/-) mice.
Title: Low ascorbic acid and increased oxidative stress in gulo(-/-) mice during development.
Data suggest that through regucalcin and L-gulonolactone oxidase expression, beta-catenin regulates vitamin C biosynthesis in liver.
Title: Beta-catenin regulates vitamin C biosynthesis and cell survival in murine liver.
demonstrate here that gene therapeutic HDAd-mCMV-Gulo vectors can mediate the expression of GULO and endogenous production of ascorbic acid in human cells and in Gulo(-/-) transgenic mice
Title: Restoration of vitamin C synthesis in transgenic Gulo-/- mice by helper-dependent adenovirus-based expression of gulonolactone oxidase.
Gulo-deficient mice are cognitively normal but unable to synthesize ascorbic acid; ascorbic acid levels in the brain and liver are higher in Gulo-sufficient mice than in Gulo-low mice.
Title: Elevated oxidative stress and sensorimotor deficits but normal cognition in mice that cannot synthesize ascorbic acid.
sfx is a mutation of the GULO gene, which leads to ascorbic acid deficiency, impaired osteoblast cell function, and fractures in affected mice
Title: Spontaneous fractures in the mouse mutant sfx are caused by deletion of the gulonolactone oxidase gene, causing vitamin C deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Spontaneous (2) 1 citation
Targeted (1) 1 citation
Endonuclease-mediated (4)

General gene information

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Markers

Gulo (e-PCR), detects polymorphism
- UniSTS:527381

NoName (e-PCR)
- UniSTS:237216

PMC15418P1 (e-PCR)
- UniSTS:271294

AU018375 (e-PCR)
- UniSTS:180683

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables D-arabinono-1,4-lactone oxidase activity	IEA Inferred from Electronic Annotation more info
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables L-gulonolactone oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-gulonolactone oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-gulonolactone oxidase activity	ISO Inferred from Sequence Orthology more info
enables flavin adenine dinucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity, acting on the CH-OH group of donors, oxygen as acceptor	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-ascorbic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within L-ascorbic acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-ascorbic acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: L-gulonolactone oxidase

Names: L-gulono-gamma-lactone oxidase

NP_848862.1

EC 1.1.3.8

XP_006519129.1

EC 1.1.3.8

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.