Gene Gene information from NCBI Gene database.
Entrez ID 7378
Gene name Uridine phosphorylase 1
Gene symbol UPP1
Synonyms (NCBI Gene)
UDRPASEUPUPASEUPP
Chromosome 7
Chromosome location 7p12.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
23
miRTarBase ID miRNA Experiments Reference
MIRT024540 hsa-miR-215-5p Microarray 19074876
MIRT026152 hsa-miR-192-5p Microarray 19074876
MIRT1921023 hsa-miR-214 CLIP-seq
MIRT1921024 hsa-miR-31 CLIP-seq
MIRT1921025 hsa-miR-3619-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NFKB1 Activation 20544543
RELA Activation 20544543
STAT1 Activation 20544543
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004850 Function Uridine phosphorylase activity IBA
GO:0004850 Function Uridine phosphorylase activity IDA 7488099
GO:0004850 Function Uridine phosphorylase activity IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191730 12576 ENSG00000183696
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16831
Protein name Uridine phosphorylase 1 (UPase 1) (UrdPase 1) (EC 2.4.2.3)
Protein function Catalyzes the reversible phosphorylytic cleavage of uridine to uracil and ribose-1-phosphate which can then be utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis (PubMed:7488099). Shows broad subs
PDB 3EUE , 3EUF , 3NBQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01048 PNP_UDP_1 54 304 Phosphorylase superfamily Domain
Sequence
Sequence length 310
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyrimidine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
  Pyrimidine salvage
Pyrimidine catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DERMATITIS, ALLERGIC CONTACT CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long QT syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 15060742
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 23275889 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11401323, 11807789, 31496029
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31496029 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Transitional Cell Transitional cell carcinoma Pubtator 9818021 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 29964038
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 15060742, 16525674, 29964038
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35354355 Associate
★☆☆☆☆
Found in Text Mining only
Cystitis Interstitial Interstitial cystitis Pubtator 32377607 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Major depressive disorder Pubtator 28688579 Associate
★☆☆☆☆
Found in Text Mining only