This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-... See more...

Aliases for UMPS Gene

Aliases for UMPS Gene

  • Uridine Monophosphate Synthetase 2 3 5
  • Uridine 5'-Monophosphate Synthase 3 4
  • UMP Synthase 3 4
  • Orotate Phosphoribosyl Transferase And Orotidine-5'-Decarboxylase 2
  • Orotidine 5'-Phosphate Decarboxylase 3
  • Orotate Phosphoribosyltransferase 3
  • OMPdecase 3
  • OPRTase 3
  • OPRT 3
  • UMPS 5

External Ids for UMPS Gene

Previous GeneCards Identifiers for UMPS Gene

  • GC03P121158
  • GC03P124466
  • GC03P125731
  • GC03P125770
  • GC03P125931
  • GC03P121823
  • GC03P124449

Summaries for UMPS Gene

Entrez Gene Summary for UMPS Gene

  • This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for UMPS Gene

UMPS (Uridine Monophosphate Synthetase) is a Protein Coding gene. Diseases associated with UMPS include Orotic Aciduria and Pyrimidine Metabolic Disorder. Among its related pathways are Metabolism of nucleotides and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and orotidine-5'-phosphate decarboxylase activity.

Gene Wiki entry for UMPS Gene

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

Genomics for UMPS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UMPS 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
GH03J124729 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.5 468 2.6 SP1 MYC JUND ZNF580 ZMYM3 ATF2 KLF9 POLR2A CEBPA ATF3 MIR544B UMPS ITGB5
GH03J124831 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.6 +105.4 105425 9.5 IKZF1 ZNF600 SSRP1 JUND ZMYM3 KLF9 CEBPA ATF3 BRCA1 ZIC2 ITGB5 UMPS ZNF148 ITGB5-AS1 KALRN HSALNG0028586 lnc-MUC13-5 ENO1P3
GH03J125642 Enhancer 1.2 FANTOM5 Ensembl ENCODE 28.8 +915.3 915274 6.3 ZNF654 CEBPA ZNF223 ATF3 YY1 CEBPB ZNF217 ELF1 FOXA2 ZNF623 lnc-ROPN1B-5 ZNF148 ZXDC UMPS OR7E29P ENSG00000242001 FAM86JP LINC02614 ENSG00000248557 OR7E93P
GH03J124697 Enhancer 1.4 FANTOM5 Ensembl ENCODE 24.2 -30.7 -30717 5.4 CEBPA ATF3 CHD4 YY1 MXD4 ZFP64 HOMEZ KMT2B RAD51 THAP11 UMPS ZNF148 RNU6-232P KALRN lnc-ITGB5-3 HSALNG0028573
GH03J125591 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16 +863.7 863663 7.4 SIX5 ZNF580 KLF9 CEBPA BRCA1 POLR2A YY1 MXD4 NONO CTCF HSALNG0028625 OSBPL11 lnc-ROPN1B-13 OR7E29P ENSG00000242001 ZXDC UMPS ZNF148 LINC02614 OR7E93P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the UMPS gene promoter:
  • AML1a
  • AREB6
  • E2F
  • E2F-1
  • ER-alpha
  • HTF
  • POU2F1
  • POU2F1a

Genomic Locations for UMPS Gene

Latest Assembly
chr3:124,730,433-124,749,273
(GRCh38/hg38)
Size:
18,841 bases
Orientation:
Plus strand

Previous Assembly
chr3:124,449,299-124,468,120
(GRCh37/hg19 by Entrez Gene)
Size:
18,822 bases
Orientation:
Plus strand

chr3:124,449,213-124,464,040
(GRCh37/hg19 by Ensembl)
Size:
14,828 bases
Orientation:
Plus strand

Genomic View for UMPS Gene

Genes around UMPS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UMPS Gene

Proteins for UMPS Gene

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

    Protein Symbol:
    P11172-UMPS_HUMAN
    Recommended name:
    Uridine 5'-monophosphate synthase
    Protein Accession:
    P11172
    Secondary Accessions:
    • B5LY68
    • B5LY72
    • O00758
    • O00759
    • O00760
    • Q16862
    • Q9H3Q2
    • Q9UG49

    Protein attributes for UMPS Gene

    Size:
    480 amino acids
    Molecular mass:
    52222 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=CAB45710.3; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UMPS Gene

    Alternative splice isoforms for UMPS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UMPS Gene

Post-translational modifications for UMPS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UMPS Gene

Domains & Families for UMPS Gene

Gene Families for UMPS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UMPS Gene

InterPro:
Blocks:
  • Orotidine 5'-phosphate decarboxylase
  • Purine/pyrimidine phosphoribosyl transferase

Suggested Antigen Peptide Sequences for UMPS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75687, highly similar to Homo sapiens uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) (UMPS), mRNA (A8K5J1_HUMAN)
  • Orotidine 5'-phosphate decarboxylase (B5LY64_HUMAN)
  • Uridine monophosphate synthetase isoform E (B5LY67_HUMAN)
  • Uridine monophosphate synthetase isoform F (B5LY68_HUMAN)
  • Uridine monophosphate synthetase isoform G (B5LY69_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11172

UniProtKB/Swiss-Prot:

UMPS_HUMAN :
  • In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
Family:
  • In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
  • In the C-terminal section; belongs to the OMP decarboxylase family.
genes like me logo Genes that share domains with UMPS: view

Function for UMPS Gene

Molecular function for UMPS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=diphosphate + orotidine 5'-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + orotate; Xref=Rhea:RHEA:10380, ChEBI:CHEBI:30839, ChEBI:CHEBI:33019, ChEBI:CHEBI:57538, ChEBI:CHEBI:58017; EC=2.4.2.10;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + orotidine 5'-phosphate = CO2 + UMP; Xref=Rhea:RHEA:11596, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57538, ChEBI:CHEBI:57865; EC=4.1.1.23;.
GENATLAS Biochemistry:
uridine monophosphate synthase,pyrimidine de novo biosynthesis (see ODC,OPRT)

Phenotypes From GWAS Catalog for UMPS Gene

Gene Ontology (GO) - Molecular Function for UMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004588 orotate phosphoribosyltransferase activity IEA,IDA 6893554
GO:0004590 orotidine-5'-phosphate decarboxylase activity IEA,IDA 6893554
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UMPS: view
genes like me logo Genes that share phenotypes with UMPS: view

Human Phenotype Ontology for UMPS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UMPS Gene

Localization for UMPS 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 UMPS gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15890648
GO:0005737 cytoplasm IDA 15890648
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UMPS: view

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

Pathways & Interactions for UMPS Gene

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

UniProtKB/Swiss-Prot P11172-UMPS_HUMAN

  • Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2.
  • Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2.

Gene Ontology (GO) - Biological Process for UMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process IEA --
GO:0006221 pyrimidine nucleotide biosynthetic process IEA --
GO:0006222 UMP biosynthetic process IBA,IDA 6893554
GO:0007565 female pregnancy IEA --
GO:0007595 lactation IEA --
genes like me logo Genes that share ontologies with UMPS: view

No data available for SIGNOR curated interactions for UMPS Gene

Drugs & Compounds for UMPS Gene

(15) Drugs for UMPS Gene - From: DrugBank, PharmGKB, 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 2449
Tegafur Approved, Investigational Pharma 136
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1763
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
6-hydroxyuridine-5'-phosphate Experimental Pharma Target 0

(21) Additional Compounds for UMPS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
5-Fluorouridine monophosphate
  • 5-F-UMP
  • 5-Fluorouridylic acid
  • Fosfluoridine
  • Fump-5'
  • 5-Fluorouridylate
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
thiosulfate
  • [SO2(OH)(SH)]
  • H2S2O3
  • Thiosulfuric acid
  • Thiosulphate
  • Thiosulphuric acid
14383-50-7
genes like me logo Genes that share compounds with UMPS: view

Transcripts for UMPS Gene

mRNA/cDNA for UMPS Gene

1 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
11 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 UMPS

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
SP1: - - -
SP2: -
SP3:
SP4: -
SP5: - - -

Relevant External Links for UMPS Gene

GeneLoc Exon Structure for
UMPS

Expression for UMPS Gene

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

Protein differential expression in normal tissues from HIPED for UMPS Gene

This gene is overexpressed in Tonsil (8.6).

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



Protein tissue co-expression partners for UMPS Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for UMPS Gene:

Hs.2057

Evidence on tissue expression from TISSUES for UMPS Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Muscle(4.2)
  • Intestine(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UMPS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • nose
  • outer ear
  • skull
Thorax:
  • heart
Abdomen:
  • kidney
  • spleen
Pelvis:
  • pelvis
Limb:
  • digit
  • foot
  • hip
  • lower limb
  • nail
  • toe
General:
  • blood
  • blood vessel
  • bone marrow
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with UMPS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UMPS Gene

Orthologs for UMPS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UMPS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UMPS 29 30
  • 99.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UMPS 29 30
  • 90.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UMPS 29 30
  • 86.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Umps 29
  • 84.51 (n)
Mouse
(Mus musculus)
Mammalia Umps 29 16 30
  • 83.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UMPS 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UMPS 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UMPS 29 30
  • 73.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 71 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia umps 29
  • 67.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15949 29
Zebrafish
(Danio rerio)
Actinopterygii umps 29 30
  • 62.85 (n)
OneToOne
zgc55723 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5453 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004175 29
  • 54.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta r-l 29 30 31
  • 52.82 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R12E2.11 30 31
  • 39 (a)
OneToMany
umps-1 30
  • 36 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA3 30 32
  • 49 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G54470 29
  • 57.46 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6709 29
Soybean
(Glycine max)
eudicotyledons Gma.5031 29
Rice
(Oryza sativa)
Liliopsida Os01g0951200 29
  • 55.98 (n)
Os.4468 29
Barley
(Hordeum vulgare)
Liliopsida Hv.9017 29
Wheat
(Triticum aestivum)
Liliopsida Ta.27185 29
Corn
(Zea mays)
Liliopsida Zm.6787 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9304 30
  • 52 (a)
OneToOne
Species where no ortholog for UMPS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UMPS Gene

ENSEMBL:
Gene Tree for UMPS (if available)
TreeFam:
Gene Tree for UMPS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UMPS: view image
Alliance of Genome Resources:
Additional Orthologs for UMPS

Paralogs for UMPS Gene

No data available for Paralogs for UMPS Gene

Variants for UMPS Gene

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

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1018561 Uncertain Significance: Hereditary orotic aciduria, type 1 124,735,235(+) CA/C
NM_000373.4(UMPS):c.302del (p.Lys101fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
1022377 Uncertain Significance: Hereditary orotic aciduria, type 1 124,735,190(+) T/C
NM_000373.4(UMPS):c.254T>C (p.Ile85Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1026262 Uncertain Significance: Hereditary orotic aciduria, type 1 124,738,155(+) ACT/A
NM_000373.4(UMPS):c.901_902del (p.Leu301fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
844353 Uncertain Significance: Hereditary orotic aciduria, type 1 124,737,960(+) A/G
NM_000373.4(UMPS):c.703A>G (p.Arg235Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
845430 Uncertain Significance: Hereditary orotic aciduria, type 1 124,744,057(+) AGC/A
NM_000373.4(UMPS):c.1418_1419del (p.Ala473fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

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

Variant ID Type Subtype PubMed ID
nsv1001677 CNV loss 25217958
nsv1012242 CNV gain 25217958
nsv1160974 CNV duplication 26073780

Variation tolerance for UMPS Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.38; 71.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UMPS Gene

Human Gene Mutation Database (HGMD)
UMPS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UMPS
Leiden Open Variation Database (LOVD)
UMPS

SNP Genotyping and Copy Number Assays for research

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

Disorders for UMPS Gene

MalaCards: The human disease database

(10) MalaCards diseases for UMPS Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
orotic aciduria
  • orotic aciduria i
pyrimidine metabolic disorder
  • disorder of pyrimidine metabolism
megaloblastic anemia
  • grasbeck-imerslund syndrome
arts syndrome
  • arts
postaxial acrofacial dysostosis
  • poads
- elite association - COSMIC cancer census association via MalaCards
Search UMPS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UMPS_HUMAN
  • Orotic aciduria 1 (ORAC1) [MIM:258900]: A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. {ECO:0000269 PubMed:9042911}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for UMPS Gene

orotic aciduria I (O5D & OPT deficiency)

Additional Disease Information for UMPS

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UMPS: view

Publications for UMPS Gene

  1. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. (PMID: 9042911) Suchi M … Wada Y (American journal of human genetics 1997) 3 4 22 72
  2. Pharmacogenetic analyses of a phase III trial in metastatic gastroesophageal adenocarcinoma with fluorouracil and leucovorin plus either oxaliplatin or cisplatin: a study of the arbeitsgemeinschaft internistische onkologie. (PMID: 19332728) Goekkurt E … Stoehlmacher J (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 22 40
  3. Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design. (PMID: 18184586) Wittmann JG … Rudolph MG (Structure (London, England : 1993) 2008) 3 4 22
  4. The relationship between 5-fluorouracil sensitivity and single nucleotide polymorphisms of the orotate phosphoribosyl transferase gene in colorectal cancer. (PMID: 16328050) Kitajima M … Ochiai T (Oncology reports 2006) 3 22 40
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 40

Products for UMPS Gene

Sources for UMPS Gene