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    UMPS uridine monophosphate synthetase [ Homo sapiens (human) ]

    Gene ID: 7372, updated on 22-May-2013
    Official Symbol
    UMPSprovided by HGNC
    Official Full Name
    uridine monophosphate synthetaseprovided by HGNC
    Primary source
    HGNC:12563
    Locus tag
    OK/SW-cl.21
    See related
    HPRD:02022; 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]
    Location :
    3q13
    Sequence :
    Chromosome: 3; NC_000003.11 (124449213..124468120)
    See UMPS in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene kalirin, RhoGEF kinase Neighboring gene ribosomal protein L7 pseudogene 15 Neighboring gene mediator of cell motility 1 pseudogene Neighboring gene ribosomal protein S26 pseudogene 22 Neighboring gene microRNA 544b Neighboring gene integrin, beta 5 Neighboring gene enolase 1, (alpha) pseudogene 3 Neighboring gene mucin 13, cell surface associated

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description
    P11172 Q9UKI2 CDC42EP3    HPRD  PubMed  
    P11172 P36957 DLST    HPRD  PubMed  
    BioGRID:113218 BioGRID:106524 A2M    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:106849 APRT    BioGRID  PubMed Co-fractionation 
    BioGRID:113218 BioGRID:107263 CALU    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:115849 CDC42EP3    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113218 BioGRID:110909 NOS3    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:116625 PAXIP1    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:123539 PLA2G12A    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:111642 PSEN1    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:112149 RPS29    BioGRID  PubMed Two-hybrid 
    BioGRID:113218 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Co-purification 
    BioGRID:113218 BioGRID:131884 USP50    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113218 BioGRID:113553 ZNF227    BioGRID  PubMed Two-hybrid 

    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
    uridine 5'-monophosphate synthase
    OPRTase
    OMPdecase
    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

      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
      Conserved Domains (2) summary
      cd04725
      Location:254466
      Blast Score: 430
      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 ...
      cd06223
      Location:53175
      Blast Score: 202
      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 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p10 Primary Assembly

      Range
      124449213..124468120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      121823485..121842386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018914.1 Alternate CHM1_1.0

      Range
      124416862..124435766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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