UMPS uridine monophosphate synthetase [Homo sapiens (human)] - Gene

Summary

Official Symbol: UMPSprovided by HGNC
Official Full Name: uridine monophosphate synthetaseprovided by HGNC
Primary source: HGNC:HGNC:12563
See related: Ensembl:ENSG00000114491 MIM:613891; AllianceGenome:HGNC:12563
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OPRT
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 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]
Expression: Ubiquitous expression in placenta (RPKM 3.1), esophagus (RPKM 2.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (124730452..124749273)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (127456263..127475096)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (124449299..124468120)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human uridine 5'-monophosphate synthase stores metabolic potential in inactive biomolecular condensates.
Title: Human uridine 5'-monophosphate synthase stores metabolic potential in inactive biomolecular condensates.
LncRNA SNORD3A specifically sensitizes breast cancer cells to 5-FU by sponging miR-185-5p to enhance UMPS expression.
Title: LncRNA SNORD3A specifically sensitizes breast cancer cells to 5-FU by sponging miR-185-5p to enhance UMPS expression.
Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria.
Title: Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
The UMPS 638 CC genotype might be a candidate biomarker predicting toxicity in patients receiving tegafur-uracil/leucovorin-based preoperative chemoradiation for locally advanced rectal cancer
Title: A phase II study of preoperative chemoradiation with tegafur-uracil plus leucovorin for locally advanced rectal cancer with pharmacogenetic analysis.
OPRT transition state analogues identify crucial components of potent inhibitors targeting OPRT enzymes.
Title: Transition state analogues of Plasmodium falciparum and human orotate phosphoribosyltransferases.
The observed mutations, aberrant splicing and downregulation of UMPS represent novel mechanisms for acquired 5-FU resistance in colorectal cancer
Title: Novel mRNA isoforms and mutations of uridine monophosphate synthetase and 5-fluorouracil resistance in colorectal cancer.
[review] It is confirmed that the type I defect in hereditary orotic aciduria is caused by loss of uridine monophosphate (UMP)synthase activity
Title: Orotic aciduria and uridine monophosphate synthase: a reappraisal.
OPRT expression in colorectal carcinoma tissues is not correlated with the toxicity of 5-FU, but OPRT expression in the normal tissues can help predict the toxicity associated with 5-FU.
Title: [Expressions of orotate phosphoribosyltransferase in colorectal carcinoma and its correlations with toxicities of chemotherapy].
High expression levels of orotate phosphoribosyl transferase and thymidylate synthase in colorectal cancer appear to be significantly involved in metastasis after curative surgery
Title: Expression of dihydropyrimidine dehydrogenase, orotate phosphoribosyl transferase and thymidylate synthase in patients with primary colorectal cancer, and associations with site of first metastasis.
Although no association was detected between UMPS variants and gastrointestinal cancer risk in Caucasians, polymerase chain reaction-RFLP with BsrI digestion and DHPLC set up at 59 degrees C are reliable and cost-effective methods to genotype UMPS.
Title: Frequency of uridine monophosphate synthase Gly(213)Ala polymorphism in Caucasian gastrointestinal cancer patients and healthy subjects, investigated by means of new, rapid genotyping assays.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oroticaciduria MedGen: C0268128 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of uridine monophosphate synthetase (UMPS) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-81841 (e-PCR)
- UniSTS:103972

SHGC-30469 (e-PCR)
- UniSTS:11049

STS-J03626 (e-PCR)
- UniSTS:33076

UMPS_1123 (e-PCR)
- UniSTS:277855

RH69886 (e-PCR)
- UniSTS:4974

D1S1423 (e-PCR)
- UniSTS:149619

RH65688 (e-PCR)
- UniSTS:89480

STS-W56547 (e-PCR)
- UniSTS:18138

RH47989 (e-PCR)
- UniSTS:3036

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables orotate phosphoribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables orotate phosphoribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables orotidine-5'-phosphate decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables orotidine-5'-phosphate decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' UMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 'de novo' pyrimidine nucleobase biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in UDP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in UMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in UMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in pyrimidine nucleobase biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: uridine 5'-monophosphate synthase

Names: OMPdecase; OPRTase; UMP synthase; orotate phosphoribosyltransferase; orotidine 5'-phosphate decarboxylase

NP_000364.1

EC 2.4.2.10

EC 4.1.1.23

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017037.1 RefSeqGene

Range

5087..23908

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000373.4 → NP_000364.1 uridine 5'-monophosphate synthase

See identical proteins and their annotated locations for NP_000364.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC022336, BC007511

Consensus CDS

CCDS3029.1

UniProtKB/Swiss-Prot

B5LY68, B5LY72, O00758, O00759, O00760, P11172, Q16862, Q9H3Q2, Q9UG49

UniProtKB/TrEMBL

A8K5J1, B5LY71

Related

ENSP00000232607.2, ENST00000232607.7

Conserved Domains (2) summary

pfam00215
Location:252 → 466

OMPdecase; Orotidine 5'-phosphate decarboxylase / HUMPS family

cl00309
Location:9 → 204

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RNA

NR_033434.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC022336, EU921887
NR_033437.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC022336, EU921891