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    UPRT uracil phosphoribosyltransferase homolog [ Homo sapiens (human) ]

    Gene ID: 139596, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UPRTprovided by HGNC
    Official Full Name
    uracil phosphoribosyltransferase homologprovided by HGNC
    Primary source
    HGNC:HGNC:28334
    See related
    Ensembl:ENSG00000094841 MIM:300656; AllianceGenome:HGNC:28334
    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
    UPP; FUR1
    Summary
    This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009]
    Expression
    Ubiquitous expression in adrenal (RPKM 3.5), thyroid (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UPRT in Genome Data Viewer
    Location:
    Xq13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (75156369..75304897)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (73590029..73738566)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (74376204..74524732)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29768 Neighboring gene neurite extension and migration factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:74097925-74098468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:74098469-74099012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20907 Neighboring gene ATP binding cassette subfamily B member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29770 Neighboring gene uncharacterized LOC124905200 Neighboring gene RNA, U6 small nuclear 562, pseudogene Neighboring gene BUD31 homolog pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29773 Neighboring gene TERF1 pseudogene 7 Neighboring gene ribosomal protein L21 pseudogene 134 Neighboring gene zinc finger DHHC-type palmitoyltransferase 15

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Specific targeting of prostate cancer cells in vitro by the suicide gene/prodrug system, uracil phosphoribosyltransferase/5-fluorouracil, under the control of prostate-specific membrane antigen promoter/enhancer. Zhao FJ, et al. Prostate Cancer Prostatic Dis, 2009. PMID 18626508
    2. Identification and characterization of human uracil phosphoribosyltransferase (UPRTase). Li J, et al. J Hum Genet, 2007. PMID 17384901
    3. UPRT, a suicide-gene therapy candidate in higher eukaryotes, is required for Drosophila larval growth and normal adult lifespan. Ghosh AC, et al. Sci Rep, 2015 Aug 14. PMID 26271729, Free PMC Article
    4. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the efficacy of 5-FU-based chemotherapy in prostate cancers can be significantly improved by targeted expression of the suicide gene UPRT under the control of prostate-specific membrane antigen promoter/enhancer
      Title: Specific targeting of prostate cancer cells in vitro by the suicide gene/prodrug system, uracil phosphoribosyltransferase/5-fluorouracil, under the control of prostate-specific membrane antigen promoter/enhancer.
    2. isolation, expression, purification, and characterization of human uracil phosphoribosyltransferase
      Title: Identification and characterization of human uracil phosphoribosyltransferase (UPRTase).
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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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

    Homology

    Clone Names

    • MGC23937, DKFZp781E1243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosylnicotinamide kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in UMP biosynthetic process 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 response to insulin IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    uracil phosphoribosyltransferase homolog
    Names
    RP11-311P8.3
    UMP pyrophosphorylase
    UPRTase
    uracil phosphoribosyltransferase (FUR1) homolog
    NP_001294873.1
    NP_001350750.1
    NP_659489.1
    XP_011529169.1
    XP_047297788.1
    XP_054182457.1
    XP_054182458.1

    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_015972.2 RefSeqGene

      Range
      122707..153507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001307944.1 → NP_001294873.1  uracil phosphoribosyltransferase homolog isoform 2

      See identical proteins and their annotated locations for NP_001294873.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA974609, AK056354, AL137013, AL590234, DA512889
      Consensus CDS
      CCDS78494.1
      UniProtKB/TrEMBL
      A0A0A0MRR5
      Related
      ENSP00000362477.1, ENST00000373379.5
      Conserved Domains (1) summary
      pfam14681
      Location:118 → 275
      UPRTase; Uracil phosphoribosyltransferase

    2. NM_001363821.1 → NP_001350750.1  uracil phosphoribosyltransferase homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL137013, AL360179
      Consensus CDS
      CCDS87767.1
      UniProtKB/TrEMBL
      A0A494C0H3, E9PSD7
      Related
      ENSP00000498525.1, ENST00000652605.1
      Conserved Domains (1) summary
      pfam14681
      Location:2 → 172
      UPRTase; Uracil phosphoribosyltransferase

    3. NM_145052.4 → NP_659489.1  uracil phosphoribosyltransferase homolog isoform 1

      See identical proteins and their annotated locations for NP_659489.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA974609, AL137013, AL590234, BC015116, DA512889
      Consensus CDS
      CCDS14429.1
      UniProtKB/Swiss-Prot
      Q5JRL1, Q5JRL3, Q68DN0, Q96BW1, Q96MW2
      UniProtKB/TrEMBL
      A8KAF9
      Related
      ENSP00000362481.4, ENST00000373383.9
      Conserved Domains (1) summary
      pfam14681
      Location:118 → 308
      UPRTase; Uracil phosphoribosyltransferase

    RNA

    1. NR_030774.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA974609, AL137013, AL590234, CK818555, DA512889

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      75156369..75304897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530867.4 → XP_011529169.1  uracil phosphoribosyltransferase homolog isoform X1

      Related
      ENSP00000433987.1, ENST00000462237.5
      Conserved Domains (1) summary
      cl00309
      Location:118 → 143
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    2. XM_047441832.1 → XP_047297788.1  uracil phosphoribosyltransferase homolog isoform X2

      UniProtKB/TrEMBL
      E9PSD7
      Related
      ENSP00000434037.1, ENST00000530743.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      73590029..73738566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326482.1 → XP_054182457.1  uracil phosphoribosyltransferase homolog isoform X1

    2. XM_054326483.1 → XP_054182458.1  uracil phosphoribosyltransferase homolog isoform X2

      UniProtKB/TrEMBL
      E9PSD7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BW1.1 GenPept UniProtKB/Swiss-Prot:Q96BW1

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