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UMPS uridine monophosphate synthetase [ Homo sapiens (human) ]

Gene ID: 7372, updated on 11-Jan-2025

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
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Genomic context

See UMPS in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene kalirin RhoGEF kinase Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124353667-124354168 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:124357017-124357611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20401 Neighboring gene MEMO1 pseudogene 6 Neighboring gene uncharacterized LOC124906276 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124448957-124449556 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:124469851-124470517 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:124475893-124476862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124478413-124479002 Neighboring gene Sharpr-MPRA regulatory region 9344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124479003-124479592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20403 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124490944-124491659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124491660-124492374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124493091-124493805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124493806-124494521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124495953-124496666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20404 Neighboring gene ribosomal protein S26 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20405 Neighboring gene uncharacterized LOC124909422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124509941-124510473 Neighboring gene microRNA 544b Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124531305-124531909 Neighboring gene uncharacterized LOC124906277 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124545465-124546128 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:124546129-124546792 Neighboring gene integrin subunit beta 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hereditary orotic aciduria
MedGen: C0220987 OMIM: 258900 GeneReviews: Not available
not available

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in 'de novo' UMP biosynthetic process  
involved_in 'de novo' pyrimidine nucleobase biosynthetic process  
involved_in UDP biosynthetic process  
involved_in UMP biosynthetic process  
involved_in UMP biosynthetic process PubMed 
involved_in cellular response to xenobiotic stimulus  
involved_in female pregnancy  
involved_in lactation  
involved_in pyrimidine nucleobase biosynthetic process  
Component Evidence Code Pubs
located_in cytoplasm PubMed 
located_in cytosol  
located_in nucleus PubMed 

General protein information

Preferred Names
uridine 5'-monophosphate synthase
Names
OMPdecase
OPRTase
UMP synthase
orotate phosphoribosyltransferase
orotidine 5'-phosphate decarboxylase
NP_000364.1

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

  1. NG_017037.1 RefSeqGene

    Range
    5087..23908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000373.4NP_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:252466
    OMPdecase; Orotidine 5'-phosphate decarboxylase / HUMPS family
    cl00309
    Location:9204
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RNA

  1. 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
  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    124730452..124749273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001740253.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    127456263..127475096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008486790.1 RNA Sequence

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