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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy Pathogenic rs2481567115 RCV004544215
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oroticaciduria Pathogenic; Likely pathogenic rs121917892, rs2481567115, rs1344899647 RCV000012682
RCV004526482
RCV000626243
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HYPOPLASTIC, CONGENITAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA Disgenet
★★☆☆☆
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
Acute Erythroblastic Leukemia Erythroblastic Leukemia CTD_human_DG 38827
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia, Megaloblastic Anemia BEFREE 28205048
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia CTD_human_DG 38827
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 39217320 Associate
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia CTD_human_DG 38827
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 20112501
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 19020767, 19151563
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24276478
★☆☆☆☆
Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamoyl Phosphate Synthase Deficiency BEFREE 29723133
★☆☆☆☆
Found in Text Mining only