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 drug... See more...

Aliases for UPRT Gene

Aliases for UPRT Gene

  • Uracil Phosphoribosyltransferase Homolog 2 3 4 5
  • Uracil Phosphoribosyltransferase (FUR1) Homolog (S. Cerevisiae) 2
  • Uracil Phosphoribosyltransferase (FUR1) Homolog 3
  • UMP Pyrophosphorylase 3
  • RP11-311P8.3 3
  • EC 2.4.2.9 52
  • EC 2.4.2 52
  • UPRTase 3
  • FUR1 3
  • UPP 3

External Ids for UPRT Gene

Previous GeneCards Identifiers for UPRT Gene

  • GC0XP074411
  • GC0XP074412
  • GC0XP074493
  • GC0XP068128
  • GC0XP075274

Summaries for UPRT Gene

Entrez Gene Summary for UPRT Gene

  • 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]

GeneCards Summary for UPRT Gene

UPRT (Uracil Phosphoribosyltransferase Homolog) is a Protein Coding gene. Diseases associated with UPRT include Kidney Leiomyosarcoma and Congenital Toxoplasmosis. Among its related pathways are Metabolism and Metabolism of nucleotides. An important paralog of this gene is UCKL1.

Additional gene information for UPRT Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UPRT Gene

Genomics for UPRT Gene

GeneHancer (GH) Regulatory Elements for UPRT Gene

Promoters and enhancers for UPRT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ075273 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 508.5 +118.2 118213 3.2 ZNF217 POLR2G USF1 SP1 PHF8 ZFX ZIC2 RFX1 TOE1 TGIF2 UPRT TTC3P1 ZDHHC15 ABCB7 piR-56883-202 HSALNG0138658
GH0XJ075155 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.4 -388 3.2 ZNF217 CTCF TCF12 SIN3A USF1 POLR2G GTF2E2 PHF8 POLR2A ZBTB11 ABCB7 UPRT ZDHHC15 ENSG00000271533 piR-38580-411
GH0XJ075522 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 8.6 +366.8 366813 3.6 EP300 POLR2A SMC3 MXI1 PHF8 MEF2B NBN SMARCA5 ELF1 EBF1 ZDHHC15 lnc-UPRT-6 lnc-MAGEE2-4 UPRT PBDC1
GH0XJ074612 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 3.8 -542.6 -542588 4 ZBTB40 ZNF217 EP300 NRF1 USF1 POLR2G PHF8 POLR2A CLOCK RFX1 RLIM UPRT RF01045-159
GH0XJ074513 Enhancer 0.7 Ensembl 5.3 -641.9 -641887 1 ZNF300 ZIC2 ZNF423 ZNF662 ZNF491 NFIC ZNF195 ZNF112 JUND ZNF830 piR-48759-328 ENSG00000271199 ENSG00000232186 ENSG00000234969 ENSG00000271533 MKRN5P SLC16A2 DDX3P1 UPRT piR-48759-327
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UPRT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UPRT

Top Transcription factor binding sites by QIAGEN in the UPRT gene promoter:
  • E47
  • IRF-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-2
  • Pax-2a
  • Sox5
  • TBP

Genomic Locations for UPRT Gene

Genomic Locations for UPRT Gene
chrX:75,156,388-75,304,897
(GRCh38/hg38)
Size:
148,510 bases
Orientation:
Plus strand
chrX:74,493,894-74,524,732
(GRCh37/hg19)
Size:
30,839 bases
Orientation:
Plus strand

Genomic View for UPRT Gene

Genes around UPRT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPRT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPRT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPRT Gene

Proteins for UPRT Gene

  • Protein details for UPRT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BW1-UPP_HUMAN
    Recommended name:
    Uracil phosphoribosyltransferase homolog
    Protein Accession:
    Q96BW1
    Secondary Accessions:
    • Q5JRL1
    • Q5JRL3
    • Q68DN0
    • Q96MW2

    Protein attributes for UPRT Gene

    Size:
    309 amino acids
    Molecular mass:
    33786 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for UPRT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UPRT Gene

Selected DME Specific Peptides for UPRT Gene

Q96BW1:
  • RRKVLLMYPILSTGNTVIEAV
  • CGVSIMR
  • VAPTHFGQ
  • EAMEQGL
  • DRLIRLVVE
  • MEQGLRDCCRS
  • NDQIRELQTIIRDKT
  • AKVYYAKFPPDI
  • ITILTTEVH
  • IILLSLFSTPHGA

Post-translational modifications for UPRT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for UPRT Gene

Gene Families for UPRT Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UPRT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UPRT Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77390 (A8KAF9_HUMAN)
  • Uracil phosphoribosyltransferase homolog (UPP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96BW1

UniProtKB/Swiss-Prot:

UPP_HUMAN :
  • Belongs to the UPRTase family.
Family:
  • Belongs to the UPRTase family.
genes like me logo Genes that share domains with UPRT: view

Function for UPRT Gene

Enzyme Numbers (IUBMB) for UPRT Gene

Gene Ontology (GO) - Molecular Function for UPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with UPRT: view
genes like me logo Genes that share phenotypes with UPRT: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UPRT

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UPRT Gene

Localization for UPRT Gene

Subcellular locations from UniProtKB/Swiss-Prot for UPRT Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UPRT gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with UPRT: view

Pathways & Interactions for UPRT Gene

PathCards logo

SuperPathways for UPRT Gene

genes like me logo Genes that share pathways with UPRT: view

Pathways by source for UPRT Gene

2 KEGG pathways for UPRT Gene

Gene Ontology (GO) - Biological Process for UPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006222 UMP biosynthetic process IEA --
GO:0007565 female pregnancy IEA --
GO:0007595 lactation IEA --
GO:0009116 nucleoside metabolic process IEA --
GO:0032868 response to insulin IEA --
genes like me logo Genes that share ontologies with UPRT: view

No data available for SIGNOR curated interactions for UPRT Gene

Drugs & Compounds for UPRT Gene

(2) Drugs for UPRT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uracil Experimental, Investigational Pharma 0
Uridine monophosphate Experimental Pharma 0

(2) Additional Compounds for UPRT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphoribosyl pyrophosphate
  • 5-phospho-alpha-D-Ribose 1-diphosphate
  • 5-Phosphoribosyl 1-pyrophosphate
  • 5-Phosphoribosyl diphosphate
  • alpha-D-Ribofuranose 5-(dihydrogen phosphate) 1-(trihydrogen diphosphate)
  • ALPHA-PHOSPHORIBOSYLPYROphosphORIC ACID
7540-64-9
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with UPRT: view

Transcripts for UPRT Gene

mRNA/cDNA for UPRT Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UPRT

Alternative Splicing Database (ASD) splice patterns (SP) for UPRT Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c · 12d · 12e
SP1: - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - -
SP7: - - - -
SP8: - - - - -
SP9: - - - - - -
SP10:

Relevant External Links for UPRT Gene

GeneLoc Exon Structure for
UPRT

Expression for UPRT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UPRT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UPRT Gene

This gene is overexpressed in Urine (49.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UPRT Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UPRT

SOURCE GeneReport for Unigene cluster for UPRT Gene:

Hs.91612

mRNA Expression by UniProt/SwissProt for UPRT Gene:

Q96BW1-UPP_HUMAN
Tissue specificity: Highly expressed in leukocytes, liver, spleen and thymus, with lower expression in brain, lung and skeletal muscle.

Evidence on tissue expression from TISSUES for UPRT Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with UPRT: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UPRT Gene

Orthologs for UPRT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UPRT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UPRT 31 30
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UPRT 31 30
  • 91.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UPRT 31 30
  • 90.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Uprt 17 31 30
  • 88.67 (n)
rat
(Rattus norvegicus)
Mammalia Uprt 30
  • 88.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UPRT 31
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UPRT 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPRT 31 30
  • 76.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UPRT 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uprt 30
  • 78.16 (n)
Str.4444 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.31769 30
zebrafish
(Danio rerio)
Actinopterygii uprt 31 30
  • 70.43 (n)
OneToOne
Dr.11713 30
fruit fly
(Drosophila melanogaster)
Insecta CG5537 31 30
  • 60.29 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007111 30
  • 58.95 (n)
worm
(Caenorhabditis elegans)
Secernentea C47B2.2 31 30
  • 55.11 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FUR1 31 30
  • 55.68 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR052C 30
  • 53.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22903g 30
  • 51.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3454 31
  • 61 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1B3.01c 30
  • 55.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01446 30
  • 55.14 (n)
Species where no ortholog for UPRT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UPRT Gene

ENSEMBL:
Gene Tree for UPRT (if available)
TreeFam:
Gene Tree for UPRT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UPRT: view image

Paralogs for UPRT Gene

Paralogs for UPRT Gene

(2) SIMAP similar genes for UPRT Gene using alignment to 3 proteins:

  • UPP_HUMAN
  • E9PSD7_HUMAN
  • F8W6E9_HUMAN
genes like me logo Genes that share paralogs with UPRT: view

Variants for UPRT Gene

Additional dbSNP identifiers (rs#s) for UPRT Gene

Structural Variations from Database of Genomic Variants (DGV) for UPRT Gene

Variant ID Type Subtype PubMed ID
esv25282 CNV gain 19812545

Variation tolerance for UPRT Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UPRT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPRT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UPRT Gene

Disorders for UPRT Gene

MalaCards: The human disease database

(3) MalaCards diseases for UPRT Gene - From: DISEASES

Disorder Aliases PubMed IDs
kidney leiomyosarcoma
  • leiomyosarcoma of kidney
congenital toxoplasmosis
  • toxoplasmosis - congen.
coccidiosis
  • intestinal coccidiosis
- elite association - COSMIC cancer census association via MalaCards
Search UPRT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UPRT

genes like me logo Genes that share disorders with UPRT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UPRT Gene

Publications for UPRT Gene

  1. UPRT, a suicide-gene therapy candidate in higher eukaryotes, is required for Drosophila larval growth and normal adult lifespan. (PMID: 26271729) Ghosh AC … O'Connor MB (Scientific reports 2015) 2 3 54
  2. Identification and characterization of human uracil phosphoribosyltransferase (UPRTase). (PMID: 17384901) Li J … Mao Y (Journal of human genetics 2007) 3 4 54
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for UPRT Gene

Sources for UPRT Gene