Gene Gene information from NCBI Gene database.
Entrez ID 7372
Gene name Uridine monophosphate synthetase
Gene symbol UMPS
Synonyms (NCBI Gene)
ODCOPRT
Chromosome 3
Chromosome location 3q21.2
Summary This gene encodes a uridine 5`-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosp
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs1801019 G>A,C Benign, drug-response, not-provided Non coding transcript variant, coding sequence variant, missense variant
rs121917890 A>G Pathogenic, likely-benign Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121917891 G>C Pathogenic, likely-benign Non coding transcript variant, missense variant, coding sequence variant
rs121917892 T>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs200305064 T>A,C Likely-pathogenic, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
785
miRTarBase ID miRNA Experiments Reference
MIRT004213 hsa-miR-197-3p Microarray 16822819
MIRT022649 hsa-miR-124-3p Microarray 18668037
MIRT686036 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT686035 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT686034 hsa-miR-940 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004588 Function Orotate phosphoribosyltransferase activity IBA
GO:0004588 Function Orotate phosphoribosyltransferase activity IDA 6893554, 9042911, 11730338
GO:0004588 Function Orotate phosphoribosyltransferase activity IEA
GO:0004590 Function Orotidine-5'-phosphate decarboxylase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613891 12563 ENSG00000114491
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11172
Protein name Uridine 5'-monophosphate synthase (UMP synthase) [Includes: Orotate phosphoribosyltransferase (OPRT) (OPRTase) (EC 2.4.2.10); Orotidine 5'-phosphate decarboxylase (ODC) (OMPD) (EC 4.1.1.23) (OMPdecase)]
Protein function Bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT), which converts orotate to orotidine-5'-monophosphate (OMP), and orotidine-5'-monophosphate decarboxylase (ODC), the t
PDB 2EAW , 2JGY , 2P1F , 2QCC , 2QCD , 2QCE , 2QCF , 2QCG , 2QCH , 2QCL , 2QCM , 2QCN , 2V30 , 2WNS , 3BGG , 3BGJ , 3BK0 , 3BVJ , 3DBP , 3EWU , 3EWW , 3EWX , 3EWY , 3EWZ , 3EX1 , 3EX2 , 3EX3 , 3EX4 , 3EX6 , 3G3D , 3G3M , 3L0K , 3L0N , 3MI2 , 3MO7 , 3MW7 , 4HIB , 4HKP , 6YVK , 6YVL , 6YVM , 6YVN , 6YVO , 6YWT , 6YWU , 6ZWY , 6ZWZ , 6ZX0 , 6ZX1 , 6ZX2 , 6ZX3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00156 Pribosyltran 41 166 Phosphoribosyl transferase domain Domain
PF00215 OMPdecase 252 466 Domain
Sequence
Sequence length 480
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyrimidine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Biosynthesis of cofactors
  Pyrimidine biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
266
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy Pathogenic rs2481567115 RCV004544215
Oroticaciduria Pathogenic; Likely pathogenic rs121917892, rs2481567115, rs1344899647 RCV000012682
RCV004526482
RCV000626243
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs77082052 RCV005897585
Hereditary orotic aciduria Uncertain significance; Conflicting classifications of pathogenicity rs1056229313, rs200305064, rs747405574, rs202135467 RCV005411714
RCV004786669
RCV004788187
RCV005630334
Hereditary orotic aciduria, type 1 Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs1056229313, rs2063509434, rs992867962, rs2150894350, rs1204450021, rs1801019, rs2291078, rs1362850727, rs1030302556, rs757677801, rs2150896247, rs2063529521, rs2150889339, rs779723295, rs745697791
View all (45 more)
RCV001322271
RCV001317886
RCV001326689
RCV001362195
RCV001361182
RCV001522005
RCV001511401
RCV001422313
RCV001436840
RCV001436410
RCV002036503
RCV001938594
RCV002045500
RCV001998920
RCV001886011
RCV002196743
RCV002205518
RCV002168645
RCV002193952
RCV002571560
RCV003111965
RCV002952351
RCV003007786
RCV003059273
RCV003594314
RCV000529613
RCV001522006
RCV003759813
RCV003594666
RCV001340094
RCV001518445
RCV002057829
RCV000887858
RCV001511402
RCV003595456
RCV003593439
RCV000892542
RCV000814195
RCV001861206
RCV000974686
RCV002057828
RCV003760413
RCV003760575
RCV001088895
RCV000634546
RCV000634547
RCV000794181
RCV000818701
RCV000966317
RCV000973819
RCV002539322
RCV002542066
RCV001493476
RCV002066181
RCV001047177
RCV001048493
RCV005093648
RCV001217980
RCV001213416
RCV001234258
UMPS-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs772436591, rs146176526, rs141640285, rs539724738, rs143828400, rs75971351 RCV003410767
RCV003927071
RCV003956984
RCV003961900
RCV003927939
RCV003970864
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Broca Associate 36818472
Asthma Associate 39217320
Carcinogenesis Associate 17607371
Carcinoma Hepatocellular Associate 17607371
Cholangiocarcinoma Associate 22912546
Colorectal Neoplasms Associate 14562021, 17465211, 18360075, 18630501
Colorectal Neoplasms Stimulate 18652704
COVID 19 Associate 36818472
Diarrhea Associate 20647221, 28347333
Drug Related Side Effects and Adverse Reactions Associate 34525956