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    UMPS uridine monophosphate synthetase [ Homo sapiens (human) ]

    Gene ID: 7372, updated on 24-Aug-2015
    Official Symbol
    UMPSprovided by HGNC
    Official Full Name
    uridine monophosphate synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:12563
    See related
    Ensembl:ENSG00000114491; HPRD:02022; MIM:613891; Vega:OTTHUMG00000159431
    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]
    Orthologs
    See UMPS in Epigenomics, MapViewer
    Location:
    3q13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105374078 Neighboring gene integrin, beta 5 Neighboring gene enolase 1, (alpha) pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    nucleobase-containing small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    pyrimidine nucleobase metabolic process TAS
    Traceable Author Statement
    more info
     
    pyrimidine nucleoside biosynthetic process TAS
    Traceable Author Statement
    more info
     
    small molecule metabolic 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 
    Preferred Names
    uridine 5'-monophosphate synthase
    Names
    OMPdecase
    OPRTase
    UMP synthase
    orotate phosphoribosyltransferase
    orotidine 5'-phosphate decarboxylase
    NP_000364.1

    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_000373.3NP_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/TrEMBL
      A8K5J1
      UniProtKB/Swiss-Prot
      P11172
      Related
      ENSP00000232607, OTTHUMP00000215261, ENST00000232607, OTTHUMT00000355271
      Conserved Domains (2) summary
      cd06223
      Location:53175
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
      cd04725
      Location:254466
      OMP_decarboxylase_like; Orotidine 5'-phosphate decarboxylase (ODCase) is a dimeric enzyme that decarboxylates orotidine 5'-monophosphate (OMP) to form uridine 5'-phosphate (UMP), an essential step in the pyrimidine biosynthetic pathway. In mammals, UMP synthase contains two ...

    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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      124412201..124431088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)