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UMPS uridine monophosphate synthetase [ Homo sapiens (human) ]

Gene ID: 7372, updated on 7-Dec-2018

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
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

Genomic context

See UMPS in Genome Data Viewer
Location:
3q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (124730366..124749273)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124449213..124468120)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene kalirin RhoGEF kinase Neighboring gene uncharacterized LOC105374076 Neighboring gene mediator of cell motility 1 pseudogene Neighboring gene ribosomal protein S26 pseudogene 22 Neighboring gene microRNA 544b Neighboring gene integrin subunit beta 5 Neighboring gene enolase 1 pseudogene 3 Neighboring gene mucin 13, cell surface associated

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
'de novo' UMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
'de novo' pyrimidine nucleobase biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
UMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleoside biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
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)

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
    5001..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
    P11172
    UniProtKB/TrEMBL
    A8K5J1
    Related
    ENSP00000232607.2, ENST00000232607.6
    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_033434.1 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_033437.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    124730366..124749273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001740253.2 RNA Sequence

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