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] See more...

Aliases for UPP1 Gene

Aliases for UPP1 Gene

  • Uridine Phosphorylase 1 2 3 4 5
  • UrdPase 1 3 4
  • UDRPASE 2 3
  • UPase 1 3 4
  • UPASE 2 3
  • UPP 2 3
  • UP 3 4
  • Uridine Phosphorylase 2
  • EC 2.4.2.3 4
  • UPP1 5

External Ids for UPP1 Gene

Previous HGNC Symbols for UPP1 Gene

  • UP

Previous GeneCards Identifiers for UPP1 Gene

  • GC07P047835
  • GC07P047869
  • GC07P047902
  • GC07P048094
  • GC07P048013

Summaries for UPP1 Gene

Entrez Gene Summary for UPP1 Gene

  • 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]

GeneCards Summary for UPP1 Gene

UPP1 (Uridine Phosphorylase 1) is a Protein Coding gene. Among its related pathways are Metabolism of nucleotides and pyrimidine deoxyribonucleosides degradation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring pentosyl groups and uridine phosphorylase activity. An important paralog of this gene is UPP2.

UniProtKB/Swiss-Prot Summary for UPP1 Gene

  • Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate (PubMed:7488099). The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.

Gene Wiki entry for UPP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UPP1 Gene

Genomics for UPP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UPP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UPP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UPP1

Top Transcription factor binding sites by QIAGEN in the UPP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for UPP1 Gene

Latest Assembly
chr7:48,088,308-48,108,736
(GRCh38/hg38)
Size:
20,429 bases
Orientation:
Plus strand

Previous Assembly
chr7:48,128,301-48,148,333
(GRCh37/hg19 by Entrez Gene)
Size:
20,033 bases
Orientation:
Plus strand

chr7:48,128,225-48,148,330
(GRCh37/hg19 by Ensembl)
Size:
20,106 bases
Orientation:
Plus strand

Genomic View for UPP1 Gene

Genes around UPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPP1 Gene

Proteins for UPP1 Gene

  • Protein details for UPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16831-UPP1_HUMAN
    Recommended name:
    Uridine phosphorylase 1
    Protein Accession:
    Q16831
    Secondary Accessions:
    • D3DVM4
    • Q15362

    Protein attributes for UPP1 Gene

    Size:
    310 amino acids
    Molecular mass:
    33934 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • [Isoform 2]: Inactive.

    Three dimensional structures from OCA and Proteopedia for UPP1 Gene

    Alternative splice isoforms for UPP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UPP1 Gene

Post-translational modifications for UPP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UPP1 Gene

Domains & Families for UPP1 Gene

Gene Families for UPP1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UPP1 Gene

InterPro:
Blocks:
  • Purine and other phosphorylases, family 1
ProtoNet:

Suggested Antigen Peptide Sequences for UPP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60728, highly similar to Uridine phosphorylase 1 (EC 2.4.2.3) (B4DND0_HUMAN)
  • Uridine phosphorylase 1 (UPP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16831

UniProtKB/Swiss-Prot:

UPP1_HUMAN :
  • Belongs to the PNP/UDP phosphorylase family.
Family:
  • Belongs to the PNP/UDP phosphorylase family.
genes like me logo Genes that share domains with UPP1: view

Function for UPP1 Gene

Molecular function for UPP1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate (PubMed:7488099). The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=phosphate + uridine = alpha-D-ribose 1-phosphate + uracil; Xref=Rhea:RHEA:24388, ChEBI:CHEBI:16704, ChEBI:CHEBI:17568, ChEBI:CHEBI:43474, ChEBI:CHEBI:57720; EC=2.4.2.3; Evidence={ECO:0000269|PubMed:7488099};.
UniProtKB/Swiss-Prot Induction:
By vitamin D3 and a mixture of inflammatory cytokines: TNF, IL1/interleukin-1 and IFNG/IFN-gamma.

Enzyme Numbers (IUBMB) for UPP1 Gene

Phenotypes From GWAS Catalog for UPP1 Gene

Gene Ontology (GO) - Molecular Function for UPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004850 uridine phosphorylase activity IDA 7488099
GO:0009032 thymidine phosphorylase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UPP1: view
genes like me logo Genes that share phenotypes with UPP1: view

Animal Models for UPP1 Gene

MGI Knock Outs for UPP1:

Animal Models for research

  • Taconic Biosciences Mouse Models for UPP1

miRNA for UPP1 Gene

miRTarBase miRNAs that target UPP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UPP1

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UPP1 Gene

Localization for UPP1 Gene

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 UPP1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UPP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UPP1 Gene

Pathways & Interactions for UPP1 Gene

genes like me logo Genes that share pathways with UPP1: view

UniProtKB/Swiss-Prot Q16831-UPP1_HUMAN

  • Pathway: Pyrimidine metabolism; UMP biosynthesis via salvage pathway; uracil from uridine (phosphorylase route): step 1/1.

Gene Ontology (GO) - Biological Process for UPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 7488099
GO:0006218 uridine catabolic process IDA 7488099
GO:0006220 pyrimidine nucleotide metabolic process IEA --
GO:0009116 nucleoside metabolic process IEA --
GO:0009166 nucleotide catabolic process IEA --
genes like me logo Genes that share ontologies with UPP1: view

No data available for SIGNOR curated interactions for UPP1 Gene

Drugs & Compounds for UPP1 Gene

(9) Drugs for UPP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 2421
5-Benzylacyclouridine Experimental Pharma Target 0
Uridine Experimental, Investigational Pharma 0
5-fluorouridine Experimental Pharma 0
Phosphate Experimental Pharma 0

(6) Additional Compounds for UPP1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ribose 1-phosphate
  • 1-O-Phosphono-alpha-D-ribofuranose
  • 1-Phospho-alpha-D-ribofuranose
  • D-Ribose 1-phosphate
  • 1-O-Phosphono-a-D-ribofuranose
  • 1-O-Phosphono-α-D-ribofuranose
14075-00-4
genes like me logo Genes that share compounds with UPP1: view

Transcripts for UPP1 Gene

mRNA/cDNA for UPP1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UPP1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for UPP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a ·
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - - - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - -
SP7: - - - -
SP8: - - - - - - - - - -
SP9: - - - -
SP10: - - - - - - - - -
SP11: - - - - - -
SP12:
SP13: - - - - - - - - - -
SP14: - - - - -
SP15: - - - - - - - - - - - - -
SP16: - - - - - - - -
SP17: - - - - -
SP18: - - - - - - -
SP19:
SP20: - - - -

ExUns: 10b · 10c · 10d ^ 11 ^ 12a · 12b · 12c · 12d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for UPP1 Gene

GeneLoc Exon Structure for
UPP1

Expression for UPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UPP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UPP1 Gene

This gene is overexpressed in Whole Blood (x16.1) and Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for UPP1 Gene

This gene is overexpressed in Lung (11.7), CD8 Tcells (9.5), NK cells (8.9), Breast (8.0), Lymph node (6.5), and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UPP1 Gene



Protein tissue co-expression partners for UPP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UPP1

SOURCE GeneReport for Unigene cluster for UPP1 Gene:

Hs.488240

Evidence on tissue expression from TISSUES for UPP1 Gene

  • Skin(4.8)
  • Intestine(4.5)
  • Lung(2.8)
  • Pancreas(2.6)
  • Bone marrow(2.4)
  • Nervous system(2.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with UPP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UPP1 Gene

Orthologs for UPP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UPP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UPP1 30 31
  • 99.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Upp1 30 17 31
  • 82.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Upp1 30
  • 81.94 (n)
Cow
(Bos Taurus)
Mammalia UPP1 30 31
  • 81.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC100856638 30
  • 76.08 (n)
-- 31
  • 70 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia UPP1 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UPP1 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UPP1 30 31
  • 70.23 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia upp1 30
  • 69.75 (n)
Str.9081 30
Zebrafish
(Danio rerio)
Actinopterygii upp1 31
  • 64 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3788 30 31
  • 54.2 (n)
ManyToMany
CG17224 31
  • 43 (a)
ManyToMany
CG6330 31
  • 42 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea upp-1 31
  • 43 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
ManyToMany
CSA.9869 31
  • 37 (a)
ManyToMany
CSA.9473 31
  • 35 (a)
ManyToMany
Species where no ortholog for UPP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 Vase (Ciona intestinalis)
  • 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 UPP1 Gene

ENSEMBL:
Gene Tree for UPP1 (if available)
TreeFam:
Gene Tree for UPP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UPP1: view image

Paralogs for UPP1 Gene

Paralogs for UPP1 Gene

(1) SIMAP similar genes for UPP1 Gene using alignment to 7 proteins:

  • UPP1_HUMAN
  • B4DND0_HUMAN
  • C9J486_HUMAN
  • C9JIP2_HUMAN
  • C9K0J2_HUMAN
  • F8WD51_HUMAN
  • Q86Y75_HUMAN
genes like me logo Genes that share paralogs with UPP1: view

Variants for UPP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UPP1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
993830 Uncertain Significance: none provided 48,107,077(+) A/T
NM_003364.4(UPP1):c.641A>T (p.Tyr214Phe)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
994201 Uncertain Significance: none provided 48,103,390(+) A/T
NM_003364.4(UPP1):c.415A>T (p.Ile139Phe)
MISSENSE_VARIANT,INTRON
rs2230761 Benign: not provided 48,107,042(+) A/G
NM_003364.4(UPP1):c.606A>G (p.Thr202=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs758600283 Likely Benign: Long QT syndrome 48,101,941(+) C/T
NM_003364.4(UPP1):c.280C>T (p.Arg94Cys)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UPP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UPP1 Gene

Variant ID Type Subtype PubMed ID
esv2734369 CNV deletion 23290073
esv997355 CNV deletion 20482838
nsv1027414 CNV loss 25217958
nsv1132052 CNV deletion 24896259
nsv464442 CNV gain 19166990
nsv470221 CNV gain 18288195
nsv606893 CNV gain 21841781

Variation tolerance for UPP1 Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UPP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UPP1 Gene

Disorders for UPP1 Gene

Additional Disease Information for UPP1

No disorders were found for UPP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UPP1 Gene

Publications for UPP1 Gene

  1. Implications of the structure of human uridine phosphorylase 1 on the development of novel inhibitors for improving the therapeutic window of fluoropyrimidine chemotherapy. (PMID: 19291308) Roosild TP … Pizzorno G (BMC structural biology 2009) 3 4 23
  2. Expression of uridine and thymidine phosphorylase genes in human breast carcinoma. (PMID: 11807789) Kanzaki A … Uchida T (International journal of cancer 2002) 2 3 23
  3. Active site conformational dynamics in human uridine phosphorylase 1. (PMID: 20856879) Roosild TP … Castronovo S (PloS one 2010) 3 4
  4. Enhanced cytotoxicity of 5-FU by bFGF through up-regulation of uridine phosphorylase 1. (PMID: 19714313) Im YS … Choi JK (Molecules and cells 2009) 3 23
  5. Uridine phosphorylase in breast cancer: a new prognostic factor? (PMID: 16720348) Yan R … Cao D (Frontiers in bioscience : a journal and virtual library 2006) 23 26

Products for UPP1 Gene

Sources for UPP1 Gene