Upp1 uridine phosphorylase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Upp1provided by MGI
Official Full Name: uridine phosphorylase 1provided by MGI
Primary source: MGI:MGI:1097668
See related: Ensembl:ENSMUSG00000020407 AllianceGenome:MGI:1097668
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: Up; Upp; UPase; UdRPase
Summary: Enables deoxyuridine phosphorylase activity; thymidine phosphorylase activity; and uridine phosphorylase activity. Involved in pyrimidine nucleoside monophosphate metabolic process and uridine catabolic process. Acts upstream of or within pyrimidine nucleotide metabolic process and uridine metabolic process. Is active in cytosol. Is expressed in early embryo; extraembryonic ectoderm; nervous system; and sensory organ. Used to study mitochondrial DNA depletion syndrome 1. Orthologous to human UPP1 (uridine phosphorylase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in large intestine adult (RPKM 191.4), small intestine adult (RPKM 74.3) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 6.13 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (9068008..9086170)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (9118008..9136170)

Chromosome 11 - NC_000077.7 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?

Importance of UPase in the activation of fluoropyrimidines, the effect of uridine in protecting normal tissues, and the role for tumor-specific modulation of the phosphorolytic activity in 5-FU or capecitabine-based chemotherapy.
Title: Differential expression of uridine phosphorylase in tumors contributes to an improved fluoropyrimidine therapeutic activity.
Data show that enhanced cytotoxicity of 5-FU by bFGF through modulating the expression of UPP1 at the transcription level.
Title: Enhanced cytotoxicity of 5-FU by bFGF through up-regulation of uridine phosphorylase 1.
Thymidine phosphorylase and UPP1 double knockout mice showed increased thymidine and deoxyuridine in tissues and developed encephalopathy.
Title: Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
Taken together, the present study provides the first evidence that uridine protects neurons against ischemic insult-induced neuronal death, possibly through the action of UPase.
Title: Uridine protects cortical neurons from glucose deprivation-induced death: possible role of uridine phosphorylase.
UPase is a critical enzyme in the regulation of uridine homeostasis and pyrimidine nucleotide metabolism, and 5-fluorouracil activity
Title: Abnormalities in uridine homeostatic regulation and pyrimidine nucleotide metabolism as a consequence of the deletion of the uridine phosphorylase gene.
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice.
Title: Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Markers

PMC139774P2 (e-PCR)
- UniSTS:270893

RH131849 (e-PCR)
- UniSTS:215132

AI325217 (e-PCR)
- UniSTS:180153

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables deoxyuridine phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
NOT enables thymidine phosphorylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables thymidine phosphorylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables uridine phosphorylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables uridine phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed
enables uridine phosphorylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables uridine phosphorylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in CMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in UMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in UMP salvage	IEA Inferred from Electronic Annotation more info
involved_in UMP salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to glucose starvation	IEA Inferred from Electronic Annotation more info
involved_in dCMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in dTMP catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dTMP catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dUMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within pyrimidine nucleotide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in uridine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in uridine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in uridine catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within uridine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: uridine phosphorylase 1

Names: UPase 1; urdPase 1

NP_001152873.1

EC 2.4.2.3

NP_001152874.1

EC 2.4.2.3

NP_033503.2

EC 2.4.2.3

XP_006514730.1

EC 2.4.2.3

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_001159401.1 → NP_001152873.1 uridine phosphorylase 1

See identical proteins and their annotated locations for NP_001152873.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.

Source sequence(s)

AK136474, AV447018, BX527866

Consensus CDS

CCDS24432.1

UniProtKB/Swiss-Prot

P52624, Q8JZX0

UniProtKB/TrEMBL

Q5SUC8

Related

ENSMUSP00000099063.3, ENSMUST00000101525.9

Conserved Domains (1) summary

cd17763
Location:32 → 306

UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2
NM_001159402.1 → NP_001152874.1 uridine phosphorylase 1

See identical proteins and their annotated locations for NP_001152874.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.

Source sequence(s)

AK136474, BX527866, CA493594

Consensus CDS

CCDS24432.1

UniProtKB/Swiss-Prot

P52624, Q8JZX0

UniProtKB/TrEMBL

Q5SUC8

Related

ENSMUSP00000127473.2, ENSMUST00000164791.8

Conserved Domains (1) summary

cd17763
Location:32 → 306

UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2
NM_009477.3 → NP_033503.2 uridine phosphorylase 1

See identical proteins and their annotated locations for NP_033503.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.

Source sequence(s)

AK136474, AL118479, BX527866, CA536983

Consensus CDS

CCDS24432.1

UniProtKB/Swiss-Prot

P52624, Q8JZX0

UniProtKB/TrEMBL

Q5SUC8

Related

ENSMUSP00000020677.2, ENSMUST00000020677.8

Conserved Domains (1) summary

cd17763
Location:32 → 306

UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2

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_000077.7 Reference GRCm39 C57BL/6J

Range

9068008..9086170

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514667.3 → XP_006514730.1 uridine phosphorylase 1 isoform X1

See identical proteins and their annotated locations for XP_006514730.1

UniProtKB/Swiss-Prot

P52624, Q8JZX0

UniProtKB/TrEMBL

Q5SUC8

Conserved Domains (1) summary

cd17763
Location:32 → 306

UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2