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UPRT uracil phosphoribosyltransferase homolog [ Homo sapiens (human) ]

Gene ID: 139596, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (75156369..75304897)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (73590029..73738566)
105.20220307 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
  • 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_2023_10

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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