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    UPP1 uridine phosphorylase 1 [ Homo sapiens (human) ]

    Gene ID: 7378, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UPP1provided by HGNC
    Official Full Name
    uridine phosphorylase 1provided by HGNC
    Primary source
    HGNC:HGNC:12576
    See related
    Ensembl:ENSG00000183696 MIM:191730; AllianceGenome:HGNC:12576
    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
    UP; UPP; UPASE; UDRPASE
    Summary
    This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]
    Expression
    Broad expression in bone marrow (RPKM 27.1), esophagus (RPKM 7.4) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UPP1 in Genome Data Viewer
    Location:
    7p12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (48088704..48108736)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (48250938..48270970)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48128301..48148333)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375270 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48028674-48029515 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48029516-48030356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25986 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:48067895-48069094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18171 Neighboring gene OCT4 hESC enhancer GRCh37_chr7:48078286-48078787 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48081079-48081256 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:48087955-48089154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48089290-48089790 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene chromosome 7 open reading frame 57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:48127865-48128394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:48128927-48129456 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48145170-48145393 Neighboring gene uncharacterized LOC105375271 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:48172671-48173278 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48186209-48186849 Neighboring gene NANOG hESC enhancer GRCh37_chr7:48217687-48218188 Neighboring gene ATP binding cassette subfamily A member 13 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:48284398-48285597 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:48337872-48339071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18174 Neighboring gene NANOG hESC enhancer GRCh37_chr7:48356224-48356728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48361367-48361866 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:48576772-48577971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48646747-48647247

    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
    • 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. Uridine phosphorylase-1 promotes cell viability and cell-cycle progression in human epidermal keratinocytes via the glycolytic pathway. Xiao X, et al. Clin Exp Pharmacol Physiol, 2024 Jul. PMID 38797519
    2. Uridine phosphorylase 1 associates to biological and clinical significance in thyroid carcinoma cell lines. Guan Y, et al. J Cell Mol Med, 2019 Nov. PMID 31496029, Free PMC Article
    3. Uridine phosphorylase is a potential prognostic factor in patients with oral squamous cell carcinoma. Miyashita H, et al. Cancer, 2002 Jun 1. PMID 12115385
    4. Uridine phosphorylase 1 is a novel immune-related target and predicts worse survival in brain glioma. Wang J, et al. Cancer Med, 2020 Aug. PMID 32583596, Free PMC Article
    5. Homeostatic control of uridine and the role of uridine phosphorylase: a biological and clinical update. Pizzorno G, et al. Biochim Biophys Acta, 2002 Jul 18. PMID 12084455

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Uridine phosphorylase-1 promotes cell viability and cell-cycle progression in human epidermal keratinocytes via the glycolytic pathway.
      Title: Uridine phosphorylase-1 promotes cell viability and cell-cycle progression in human epidermal keratinocytes via the glycolytic pathway.
    2. UPP1 promotes lung adenocarcinoma progression through the induction of an immunosuppressive microenvironment.
      Title: UPP1 promotes lung adenocarcinoma progression through the induction of an immunosuppressive microenvironment.
    3. Uridine phosphorylase 1 is a novel immune-related target and predicts worse survival in brain glioma.
      Title: Uridine phosphorylase 1 is a novel immune-related target and predicts worse survival in brain glioma.
    4. Metabolites modulate the functional state of human uridine phosphorylase I.
      Title: Metabolites modulate the functional state of human uridine phosphorylase I.
    5. Uridine phosphorylase 1 associates to biological and clinical significance in thyroid carcinoma cell lines.
      Title: Uridine phosphorylase 1 associates to biological and clinical significance in thyroid carcinoma cell lines.
    6. there are inter-ethnic differences for uridine phosphorylase 1 (UPP1) and zinc finger-SWIM containing 4 (ZSWIM4) in response to 1alpha,25(OH)2D3
      Title: Colonic transcriptional response to 1α,25(OH)(2) vitamin D(3) in African- and European-Americans.
    7. The dimeric enzyme is capable of a large hinge motion facilitating ligand exchange.
      Title: Active site conformational dynamics in human uridine phosphorylase 1.
    8. Data show that enhanced cytotoxicity of 5-FU by bFGF through modulating the expression of UPP1 at the transcription level.
      Title: Enhanced cytotoxicity of 5-FU by bFGF through up-regulation of uridine phosphorylase 1.
    9. The presented structures confirm that hUPP1 is dimeric. They also reveal the mechanism by which 5-benzylacyclouridine engages the active site of the protein and disables the enzyme by locking the protein in a closed conformation.
      Title: Implications of the structure of human uridine phosphorylase 1 on the development of novel inhibitors for improving the therapeutic window of fluoropyrimidine chemotherapy.
    10. Thymidine phosphorylase and uridine phosphorylase were both responsible for converting 5'dFUrd/5FU into 5FU/FUrd, respectively
      Title: The role of thymidine phosphorylase and uridine phosphorylase in (fluoro)pyrimidine metabolism in peripheral blood mononuclear cells.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat 47-59 peptide downregulates gene expression of uridine phosphorylase 1 (UPP1) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables deoxyuridine phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thymidine phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables uridine phosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables uridine phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UMP salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to glucose starvation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dCMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dTMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dUMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleobase-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in uridine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in uridine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    uridine phosphorylase 1
    Names
    UPase 1
    urdPase 1
    NP_001274355.1
    NP_001274357.1
    NP_001274358.1
    NP_001274359.1
    NP_001349703.1
    NP_003355.1
    XP_011513814.1
    XP_011513815.1
    XP_011513816.1
    XP_047276753.1
    XP_047276754.1
    XP_047276755.1
    XP_054214904.1
    XP_054214905.1
    XP_054214906.1
    XP_054214907.1
    XP_054214908.1
    XP_054214909.1

    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_051802.1 RefSeqGene

      Range
      5663..25134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001287426.2 → NP_001274355.1  uridine phosphorylase 1 isoform a

      See identical proteins and their annotated locations for NP_001274355.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 8. Variants 1, 3 and 8 encode the same isoform (a).
      Source sequence(s)
      AC122132, AK297863, BC007348
      Consensus CDS
      CCDS5507.1
      UniProtKB/Swiss-Prot
      D3DVM4, Q15362, Q16831
      Related
      ENSP00000330032.4, ENST00000331803.8
      Conserved Domains (1) summary
      cd17763
      Location:31 → 305
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2

    2. NM_001287428.2 → NP_001274357.1  uridine phosphorylase 1 isoform b

      See identical proteins and their annotated locations for NP_001274357.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks three exons in the 5' coding region and initiates translation at an alternate start codon, compared to variant 8. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Variants 4, 5 and 6 all encode isoform b.
      Source sequence(s)
      AC122132, BC007348, BF027447, BF668084, BM557506
      UniProtKB/TrEMBL
      Q86Y75
      Conserved Domains (1) summary
      cl38914
      Location:10 → 168
      NP-I; nucleoside phosphorylase-I family

    3. NM_001287429.2 → NP_001274358.1  uridine phosphorylase 1 isoform b

      See identical proteins and their annotated locations for NP_001274358.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks three exons in the 5' coding region and initiates translation at an alternate start codon, compared to variant 8. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Variants 4, 5 and 6 all encode isoform b.
      Source sequence(s)
      AC122132, BC007348, BE901028, BI199725
      UniProtKB/TrEMBL
      Q86Y75
      Conserved Domains (1) summary
      cl38914
      Location:10 → 168
      NP-I; nucleoside phosphorylase-I family

    4. NM_001287430.1 → NP_001274359.1  uridine phosphorylase 1 isoform b

      See identical proteins and their annotated locations for NP_001274359.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks three exons in the 5' coding region and initiates translation at an alternate start codon, compared to variant 8. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Variants 4, 5 and 6 all encode isoform b.
      Source sequence(s)
      AK297863, BC007348, BC047030
      UniProtKB/TrEMBL
      Q86Y75
      Conserved Domains (1) summary
      cl38914
      Location:10 → 168
      NP-I; nucleoside phosphorylase-I family

    5. NM_001362774.2 → NP_001349703.1  uridine phosphorylase 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents the longest transcript and encodes the longer isoform (a). Both variants 1, 3 and 8 encode isoform a.
      Source sequence(s)
      AC122132, BC007348, BU528636, X90858
      Consensus CDS
      CCDS5507.1
      UniProtKB/Swiss-Prot
      D3DVM4, Q15362, Q16831
      Conserved Domains (1) summary
      cd17763
      Location:31 → 305
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2

    6. NM_003364.4 → NP_003355.1  uridine phosphorylase 1 isoform a

      See identical proteins and their annotated locations for NP_003355.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 8. Variants 1, 3 and 8 encode the same isoform (a).
      Source sequence(s)
      AC122132, AK297863, BC001405, BC007348, X90858
      Consensus CDS
      CCDS5507.1
      UniProtKB/Swiss-Prot
      D3DVM4, Q15362, Q16831
      Related
      ENSP00000378931.4, ENST00000395564.9
      Conserved Domains (1) summary
      cd17763
      Location:31 → 305
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2

    RNA

    1. NR_109837.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' region, and lacks two exons and uses an alternate splice site in the central region, compared to variant 8. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD)
      Source sequence(s)
      AK297863, BC007348, BC053592

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      48088704..48108736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515512.3 → XP_011513814.1  uridine phosphorylase 1 isoform X1

      See identical proteins and their annotated locations for XP_011513814.1

      UniProtKB/Swiss-Prot
      D3DVM4, Q15362, Q16831
      Conserved Domains (1) summary
      cd17763
      Location:31 → 305
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2

    2. XM_011515513.3 → XP_011513815.1  uridine phosphorylase 1 isoform X3

      See identical proteins and their annotated locations for XP_011513815.1

      Conserved Domains (1) summary
      cd17763
      Location:25 → 222
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2

    3. XM_047420797.1 → XP_047276753.1  uridine phosphorylase 1 isoform X2

    4. XM_011515514.3 → XP_011513816.1  uridine phosphorylase 1 isoform X3

      See identical proteins and their annotated locations for XP_011513816.1

      Conserved Domains (1) summary
      cd17763
      Location:25 → 222
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2

    5. XM_047420798.1 → XP_047276754.1  uridine phosphorylase 1 isoform X4

      UniProtKB/TrEMBL
      B4DND0
      Related
      ENSP00000390118.1, ENST00000436673.5

    6. XM_047420799.1 → XP_047276755.1  uridine phosphorylase 1 isoform X4

      UniProtKB/TrEMBL
      B4DND0
      Related
      ENSP00000405209.1, ENST00000416681.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      48250938..48270970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358929.1 → XP_054214904.1  uridine phosphorylase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM4, Q15362, Q16831

    2. XM_054358931.1 → XP_054214906.1  uridine phosphorylase 1 isoform X3

    3. XM_054358930.1 → XP_054214905.1  uridine phosphorylase 1 isoform X2

    4. XM_054358932.1 → XP_054214907.1  uridine phosphorylase 1 isoform X3

    5. XM_054358933.1 → XP_054214908.1  uridine phosphorylase 1 isoform X4

      UniProtKB/TrEMBL
      B4DND0

    6. XM_054358934.1 → XP_054214909.1  uridine phosphorylase 1 isoform X4

      UniProtKB/TrEMBL
      B4DND0

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181597.1: Suppressed sequence

      Description
      NM_181597.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16831.1 GenPept UniProtKB/Swiss-Prot:Q16831

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