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    UPP1 uridine phosphorylase 1 [ Homo sapiens (human) ]

    Gene ID: 7378, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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 Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001287426.2NP_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:31305
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2
    2. NM_001287428.2NP_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:10168
      NP-I; nucleoside phosphorylase-I family
    3. NM_001287429.2NP_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:10168
      NP-I; nucleoside phosphorylase-I family
    4. NM_001287430.1NP_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:10168
      NP-I; nucleoside phosphorylase-I family
    5. NM_001362774.2NP_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:31305
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2
    6. NM_003364.4NP_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:31305
      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_011515512.3XP_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:31305
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2
    2. XM_011515513.3XP_011513815.1  uridine phosphorylase 1 isoform X3

      See identical proteins and their annotated locations for XP_011513815.1

      Conserved Domains (1) summary
      cd17763
      Location:25222
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2
    3. XM_047420797.1XP_047276753.1  uridine phosphorylase 1 isoform X2

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

      See identical proteins and their annotated locations for XP_011513816.1

      Conserved Domains (1) summary
      cd17763
      Location:25222
      UP_hUPP-like; uridine phosphorylases similar to a human UPP1 and UPP2
    5. XM_047420798.1XP_047276754.1  uridine phosphorylase 1 isoform X4

      UniProtKB/TrEMBL
      B4DND0, C9JIP2
      Related
      ENSP00000390118.1, ENST00000436673.5
    6. XM_047420799.1XP_047276755.1  uridine phosphorylase 1 isoform X4

      UniProtKB/TrEMBL
      B4DND0, C9JIP2
      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_054358929.1XP_054214904.1  uridine phosphorylase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM4, Q15362, Q16831
    2. XM_054358931.1XP_054214906.1  uridine phosphorylase 1 isoform X3

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

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

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

      UniProtKB/TrEMBL
      B4DND0, C9JIP2
    6. XM_054358934.1XP_054214909.1  uridine phosphorylase 1 isoform X4

      UniProtKB/TrEMBL
      B4DND0, C9JIP2

    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.