Ubiad1 UbiA prenyltransferase domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ubiad1provided by MGI
Official Full Name: UbiA prenyltransferase domain containing 1provided by MGI
Primary source: MGI:MGI:1918957
See related: Ensembl:ENSMUSG00000047719 AllianceGenome:MGI:1918957
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
Also known as: Tere1; 1200002M06Rik
Summary: Enables prenyltransferase activity. Involved in menaquinone metabolic process and phylloquinone metabolic process. Is active in endoplasmic reticulum membrane. Used to study Schnyder corneal dystrophy. Human ortholog(s) of this gene implicated in Schnyder corneal dystrophy. Orthologous to human UBIAD1 (UbiA prenyltransferase domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 20.7), ovary adult (RPKM 13.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 78.76 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (148518952..148529217, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (148434495..148444760, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

UBIAD1 protects against oxygen-glucose deprivation/reoxygenation injury via nNOS/NO pathway.
Title: UBIAD1 protects against oxygen-glucose deprivation/reoxygenation injury via nNOS/NO pathway.
results establish the physiological significance of UBIAD1 in cholesterol homeostasis and indicate inhibition of HMGCR endoplasmic reticulum-associated degradation contributes to Schnyder corneal dystrophy pathogenesis
Title: Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice.
The Ubiad1(N100S) mouse provides a promising animal model of schnyder corneal dystrophy (SCD) revealing that mitochondrial dysfunction is a prominent component of the disease. The different phenotype in human and mouse may due to difference in cholesterol metabolism between species.
Title: A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
UBIAD1 protects against oxygen-glucose deprivation/reperfusion-induced multiple subcellular organelles injury through PI3K/AKT Pathway.
Title: UBIAD1 protects against oxygen-glucose deprivation/reperfusion-induced multiple subcellular organelles injury through PI3K/AKT pathway in N2A cells.
These results indicate that UBIAD1 is essential for maintaining the survival of pancreatic acinar cells in the pancreas.
Title: UBIAD1 Plays an Essential Role in the Survival of Pancreatic Acinar Cells.
UBIAD1 is responsible for vitamin K2 synthesis but may not be responsible for CoQ9 synthesis in mice.
Title: Vitamin K2 biosynthetic enzyme, UBIAD1 is essential for embryonic development of mice.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Gene trapped (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129718 (e-PCR)
- UniSTS:213013

AI426463 (e-PCR)
- UniSTS:159319

NoName (e-PCR)
- UniSTS:235096

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables antioxidant activity	ISO Inferred from Sequence Orthology more info
enables antioxidant activity	ISS Inferred from Sequence or Structural Similarity more info
enables prenyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables prenyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables prenyltransferase activity	ISO Inferred from Sequence Orthology more info
enables prenyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in circulatory system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in menaquinone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in menaquinone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in menaquinone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in menaquinone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in menaquinone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phylloquinone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquinone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ubiquinone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in ubiquinone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin K biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin K biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in vitamin K biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ubiA prenyltransferase domain-containing protein 1

Names: transitional epithelia response protein

NP_082149.1

EC 2.5.1.39

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.