• Gene id: 7378

Gene Summary

• Gene Symbol: UPP1   Gene   UCSC   Ensembl
• Aliases: UDRPASE, UP, UPASE, UPP
• Gene name: uridine phosphorylase 1
• Alternate names: uridine phosphorylase 1, UPase 1, urdPase 1,
• Gene location: 7p12.3 (48088307: 48108735)     Exons: 10     NC_000007.14
• Gene summary(Entrez): This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage
• OMIM: 191730

Protein Summary

• Protein general information: Q16831  
  • Name: Uridine phosphorylase 1 (UPase 1) (UrdPase 1) (EC 2.4.2.3)
  • Length: 310  
  • Mass: 33934
• Sequence:

  MAATGANAEKAESHNDCPVRLLNPNIAKMKEDILYHFNLTTSRHNFPALFGDVKFVCVGGSPSRMKAFIRCVGAE
  LGLDCPGRDYPNICAGTDRYAMYKVGPVLSVSHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGGIGLEPG
  TVVITEQAVDTCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFYEGQGRLDGALC
  SYTEKDKQAYLEAAYAAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVS
  YFIKKKLSKA

• Structural information:
  • Interpro: IPR018016  IPR000845  IPR035994  IPR010059  
  • Prosite: PS01232
  • PDB: 3EUE 3EUF 3NBQ
  • PDBsum: 3EUE 3EUF 3NBQ
  • STRING: ENSP00000330032
• Other Databases: GeneCards:  UPP1  Malacards:  UPP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004850	uridine phosphorylase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009166	nucleotide catabolic process	IEA	biological process
GO:0016763	transferase activity, transferring pentosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0004850	uridine phosphorylase activity	IEA	molecular function
GO:0043097	pyrimidine nucleoside salvage	TAS	biological process
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042149	cellular response to glucose starvation	IEA	biological process
GO:0046108	uridine metabolic process	IEA	biological process
GO:0006220	pyrimidine nucleotide metabolic process	IEA	biological process
GO:0006218	uridine catabolic process	IEA	biological process
GO:0004850	uridine phosphorylase activity	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0044206	UMP salvage	IEA	biological process
GO:0006218	uridine catabolic process	IDA	biological process
GO:0004850	uridine phosphorylase activity	IDA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881