• Gene id: 139596

Gene Summary

• Gene Symbol: UPRT   Gene   UCSC   Ensembl
• Aliases: FUR1, UPP
• Gene name: uracil phosphoribosyltransferase homolog
• Alternate names: uracil phosphoribosyltransferase homolog, RP11-311P8.3, UMP pyrophosphorylase, UPRTase, uracil phosphoribosyltransferase (FUR1) homolog,
• Gene location: Xq13.3 (75156368: 75304896)     Exons: 13     NC_000023.11
• Gene summary(Entrez): This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salv
• OMIM: 300656

Protein Summary

• Protein general information: Q96BW1  
  • Name: Uracil phosphoribosyltransferase homolog
  • Length: 309  
  • Mass: 33786
  • Tissue specificity: Highly expressed in leukocytes, liver, spleen and thymus, with lower expression in brain, lung and skeletal muscle. {ECO
• Sequence:

  MATELQCPDSMPCHNQQVNSASTPSPEQLRPGDLILDHAGGNRASRAKVILLTGYAHSSLPAELDSGACGGSSLN
  SEGNSGSGDSSSYDAPAGNSFLEDCELSRQIGAQLKLLPMNDQIRELQTIIRDKTASRGDFMFSADRLIRLVVEE
  GLNQLPYKECMVTTPTGYKYEGVKFEKGNCGVSIMRSGEAMEQGLRDCCRSIRIGKILIQSDEETQRAKVYYAKF
  PPDIYRRKVLLMYPILSTGNTVIEAVKVLIEHGVQPSVIILLSLFSTPHGAKSIIQEFPEITILTTEVHPVAPTH
  FGQKYFGTD

• Structural information:
  • Interpro: IPR000836  IPR029057  
  • CDD: cd06223
  • STRING: ENSP00000362481
• Other Databases: GeneCards:  UPRT  Malacards:  UPRT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032868	response to insulin	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0006222	UMP biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881