UMPS

Chr 3q21.2

uridine monophosphate synthetase

Aliases:: OPRT, ODC
MANE:: ENST00000232607.7

OMIM: 613891 ↗NCBI: 7372 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

UMPS · P11172

v62025-08-01

Predicted Aligned Error matrix for UMPS — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.1/ 100

Very high

480 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)10%
Low(50–70)3%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

orotic aciduria
0.77
Hereditary orotic aciduria
0.76
coronary artery disorder
0.49
Intellectual disability
0.46
psoriasis vulgaris
0.37
Abnormality of the skeletal system
0.35
coronary atherosclerosis
0.34
hereditary disease
0.34
cardiomyopathy
0.34
heart disorder
0.31

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Uridine 5'-monophosphate synthase

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 terminal enzymatic reaction that decarboxylates OMP to uridine monophosphate (UMP)