rs1801019

This is a variant in the UMPS gene that changes a glycine to an alanine.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

orotate measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele C

OR 0.51

p 9.0e-153

N 8,809

Large GWAS

European

▶

ClinVar annotation

Benign★★★☆

7 submitters2 publications

Hereditary orotic aciduria, type 1; Oroticaciduria; not specified

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

G‐A variant in miR‐200c binding site of EFNA1 alters susceptibility to gastric cancer

MethodsN=5,542Yingfei Li et al.(2014)· Molecular Carcinogenesis

Pathway analysis of a gastric cancer GWAS dataset using ICSNPathway identified 7 candidate SNPs (rs4745, rs12904, rs1801019, rs364897, rs11187870, rs2274223, rs3765524) in 4 genes (EFNA1, UMPS, GBA, PLCE1) and 12 biological pathways. Four hypothetical mechanisms were proposed: ephrin receptor binding via EFNA1, pyrimidine metabolism via UMPS, cyanoamino acid metabolism via GBA, and cell growth/lipid biosynthesis via PLCE1.

Traits studied:Gastric cancer

PubMed DOI Metascience Observatory

About 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]