Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7372
Gene name Gene Name - the full gene name approved by the HGNC.
Uridine monophosphate synthetase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UMPS
Synonyms (NCBI Gene) Gene synonyms aliases
ODC, OPRT
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613891 12563 ENSG00000114491
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hereditary orotic aciduria hereditary orotic aciduria, type 1 N/A N/A ClinVar
Associations from Text Mining Disease 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