UMPS

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 phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Full Name

uridine monophosphate synthetase

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

Biological Process

Biological Process 'de novo' pyrimidine nucleobase biosynthetic process Source:InterPro
Biological Process 'de novo' UMP biosynthetic process Source:UniProtKB-UniPathway
Biological Process cellular response to xenobiotic stimulus Source:Ensembl
Biological Process female pregnancy Source:Ensembl
Biological Process lactation Source:Ensembl
Biological Process pyrimidine nucleobase biosynthetic process Source:GO_Central1 Publication
Biological Process UDP biosynthetic process Source:Ensembl
Biological Process UMP biosynthetic process Source:UniProtKB4 Publications

Cellular Location

cytoplasm
cytosol
nucleus

Involvement in disease

Orotic aciduria 1 (ORAC1):
A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.