UMPS Gene
protein-coding GIFtS: 64
GCID: GC03P124449
|
|
uridine monophosphate synthetase
| |
Aliases for UMPS gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
| This gene clusters with an RNA gene Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Uridine Monophosphate Synthetase1 2 | | OPRTase2 | | UMP Synthase2 3 | | Orotate Phosphoribosyltransferase2 | | OMPdecase2 | | Orotidine 5'-Phosphate Decarboxylase2 | | OPRT2 | | Uridine 5'-Monophosphate Synthase2 |
| External Ids: | HGNC: 125631 | Entrez Gene: 73722 | Ensembl: ENSG000001144917 | OMIM: 6138915 | UniProtKB: P111723 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n409262 | |
Export aliases for UMPS gene to outside databasesPrevious GC identifers: GC03P121158 GC03P124466 GC03P125731 GC03P125770 GC03P125931 GC03P121823
Summaries for UMPS gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for UMPS: This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes thefinal two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminalenzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminalreaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate touridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results inmultiple transcript variants. (provided by RefSeq, Mar 2010) Gene Wiki entry for UMPS (Uridine monophosphate synthetase)
|
Genomic Views for UMPS gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the UMPS gene promoter: ER-alpha AML1a HTF AREB6 E2F E2F-1 POU2F1 POU2F1a Other transcription factors
Search SABiosciences Chromatin IP Primers for UMPS
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UMPS |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13 Ensembl cytogenetic band: 3q21.2 HGNC cytogenetic band: 3q13UMPS Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P124449: view genomic region
(about GC identifiers)
Start:
|
124,449,213 bp from pter |
End:
|
124,468,120 bp from pter |
Size:
|
18,908 bases |
Orientation:
|
plus strand |
|
Proteins for UMPS gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172 (See
protein sequence)Recommended Name: Uridine 5'-monophosphate synthase Size: 480 amino acids; 52222 Da
Subunit: Homodimer
Sequence caution: Sequence=CAB45710.3; Type=Erroneous termination; Positions=430; Note=Translated as Gln;
6/38 PDB 3D structures from and Proteopedia for UMPS (see all 38):2EAW (3D)
  2JGY (3D)
  2P1F (3D)
  2QCC (3D)
  2QCD (3D)
  2QCE (3D)
 
Secondary accessions: O00758 O00759 O00760 Q16862 Q9H3Q2 Q9UG49Alternative splicing: 2 isoforms: P11172-1 P11172-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for UMPS: NX_P11172
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P11172 UMPS Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000364.1 ENSEMBL proteins: ENSP00000232607 ENSP00000417893 ENSP00000419618 ENSP00000420348 ENSP00000419121 ENSP00000420409 ENSP00000420754 ENSP00000443577 ENSP00000444988 ENSP00000397965 Reactome Protein details: P11172 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
UMPS for ontologies About GeneDecksing
UMPS Antibody Products: Assay Products for UMPS: |
Protein
Domains / Families for UMPS gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
UMPS for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P11172ProtoNet protein and cluster: P11172 2 Blocks protein families: IPB001754 Orotidine 5'-phosphate decarboxylase IPB002375 Purine/pyrimidine phosphoribosyl transferase
UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172Similarity: In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase familySimilarity: In the C-terminal section; belongs to the OMP decarboxylase family |
Function for UMPS gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172Catalytic activity: Orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphateCatalytic activity: Orotidine 5'-phosphate = UMP + CO(2) Genatlas biochemistry entry for UMPS:uridine monophosphate synthase,pyrimidine de novo biosynthesis (see ODC,OPRT)
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UMPS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UMPS OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: UMPS (NM_000373) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UMPS | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMPS  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMPS |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004588 | orotate phosphoribosyltransferase activity |
TAS | -- | | GO:0004590 | orotidine-5'-phosphate decarboxylase activity |
TAS | -- | | GO:0016740 | transferase activity |
-- | -- |
UMPS for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for UMPS:
|
Pathways & Interactions for UMPS gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Pyrimidine biosynthesis | | | 2 | Fluoropyrimidine Activity | | | 3 | Metabolism | | | 4 | Pyrimidine metabolism | | | 5 | pyrimidine ribonucleotides interconversion | |
Pathway sources See GeneCards unified pathways Show all pathways
3 BioSystems Pathways for UMPS 
4
Reactome Pathways for UMPS 1 PharmGKB Pathway for UMPS 3
Kegg Pathways (Kegg details for UMPS): UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2
UMPS for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UMPS
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/594 Interacting proteins for UMPS (P111722, 3 ENSP000002326074) via UniProtKB, MINT, STRING, and/or I2D (see all 594) About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006206 | pyrimidine nucleobase metabolic process |
TAS | -- | | GO:0006207 | 'de novo' pyrimidine nucleobase biosynthetic process |
IEA | -- | | GO:0006221 | pyrimidine nucleotide biosynthetic process |
-- | -- | | GO:0006222 | UMP biosynthetic process |
IDA | 6893554 | | GO:0007565 | female pregnancy |
IEA | -- |
UMPS for ontologies About GeneDecksing
|
Drugs & Compounds for UMPS gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
UMPS for compounds About GeneDecksing
Browse Tocris compounds for UMPS
9 HMDB Compounds for UMPS About this table
1 DrugBank Compound for UMPS About this table
10/27 Novoseek chemical compound relationships for UMPS gene (see all 27) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| orotic acid |
98 |
216 |
2085181 (4), 8312245 (3), 16044965 (3), 11730338 (3) (see all 98) |
| orotidine 5'-monophosphate |
93.5 |
58 |
11730338 (3), 8312245 (2), 15683248 (2), 15147974 (2) (see all 21) |
| thymidylate |
92 |
109 |
20407238 (2), 11915731 (2), 12720098 (2), 17192711 (2) (see all 64) |
| 5fluorouracil |
86.4 |
251 |
17854773 (7), 14770427 (6), 14713770 (6), 16328050 (4) (see all 69) |
| poly u |
82.7 |
48 |
7662663 (6), 8182184 (4), 9042911 (3), 15147974 (2) (see all 14) |
| uridine |
82 |
46 |
17192711 (2), 2162241 (1), 10736423 (1), 10969598 (1) (see all 24) |
| fump |
80.1 |
4 |
8645024 (2), 10927027 (1) |
| dihydrouracil |
80 |
7 |
16584912 (1), 8216379 (1), 8277507 (1), 10927027 (1) (see all 5) |
| prpp |
79.2 |
12 |
7685580 (2), 8312245 (1), 2142214 (1), 9890908 (1) (see all 6) |
| thymidine |
77.1 |
92 |
17192711 (2), 17637543 (2), 2162241 (1), 10736423 (1) (see all 52) |
3 PharmGKB related drug/compound annotations for UMPS geneAbout this table
Search CenterWatch for drugs/clinical trials and news about UMPS 
|
Transcripts for UMPS gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for UMPS gene: NM_000373.3 Unigene Cluster for UMPS: Uridine monophosphate synthetase Hs.2057 [show with all ESTs]Unigene Representative Sequence: NR_03343713 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000232607(uc011bkb.2 uc003ehl.4 uc003ehn.4 uc003ehm.4 uc011bka.2 uc011bkc.2 uc011bkd.2) ENST00000462091 ENST00000467167 ENST00000474588 ENST00000497791 ENST00000460034 ENST00000479719 ENST00000498715 ENST00000487622 ENST00000495751 ENST00000536109 ENST00000538242 ENST00000413078
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UMPS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UMPS OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: UMPS (NM_000373) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UMPS | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMPS  |
Additional cDNA sequence: AB062285.1 AK291306.1 AL080099.2 BC000364.2 BC007511.2 CR456787.1 D86227.1 D86228.1 D86230.1 J03626.1 M36661.1 NR_033434.1 NR_033437.1 15 DOTS entries: DT.446579 DT.97826849 DT.95303887 DT.100821991 DT.100822007 DT.100821994 DT.91725814 DT.100821997 DT.99956399 DT.95303886 DT.95303936 DT.100821995 DT.86852957 DT.95303884 DT.95303885 24/283 AceView cDNA sequences (see all 283): BM454306 BX366051 CB130014 AA284909 CR597849 BU686871 BG109876 BM982839 CA440952 CR623728 CR593249 BX339589 BG025364 BM465045 AL559482 CR618739 BU687676 CB158412 CR614357 AL561431 AA130583 CR590318 BX345093 BQ926088 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for UMPS About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | |
| SP1: | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | - |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for UMPS
|
Expression for UMPS gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| UMPS expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTCTTTAGGA
About this image See UMPS Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for UMPS
SOURCE GeneReport for Unigene cluster: Hs.2057 SABiosciences Custom PCR Arrays for UMPS
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UMPS Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UMPS | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UMPS | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UMPS | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMPS |
Orthologs for UMPS gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for UMPS gene from 11/45 species (see all 45) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Umps1 , 5 |
uridine monophosphate synthetase1, 5 |
83.54(n)1 88.75(a)1 |
  |
16 (24.26 cM)5 222471 NM_009471.21 NP_033497.11 339547825 |
chicken (Gallus gallus) |
Aves |
UMPS1 |
uridine monophosphate synthetase |
73.31(n) 74.84(a) |
  |
424256 NM_001031260.1 NP_001026431.1 |
lizard (Anolis carolinensis) |
Reptilia |
---- |
-- |
70(a)70(a) |
many → 1many → 1 |
1(78230900-78241092) GL344627.1(19110-26862) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.159492 |
Xenopus laevis transcribed sequence with weak similarity more |
73.52(n) |
  |
BX848302.1 |
zebrafish (Danio rerio) |
Actinopterygii |
zgc557232 |
hypothetical protein MGC55723 |
70.96(n) |
  |
393143 BC045440.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
r-l1 , 3 |
'de novo' pyrimidine base biosynthesis orotate more3 rudimentary-like1 |
46(a)3 52.82(n)1 48.39(a)1 |
  |
3 93B103 424931 NM_079703.21 NP_524427.11 |
worm (Caenorhabditis elegans) |
Secernentea |
R12E2.113 |
purine/pyrimidine phosphoribosyl transferase |
46(a) |
  |
I(4172733-4173730) -- |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
URA3(YEL021W)4 URA31 |
Orotidine-5'-phosphate (OMP) decarboxylase, catalyzes more4 Ura3p1 |
56.71(n)1 53.53(a)1 |
  |
5(116167-116970)4 8566921, 4 NP_010893.31 NP_010893.14 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT3G544701 |
orotidine 5'-phosphate decarboxylase |
57.46(n) 56.1(a) |
  |
824612 NM_148875.4 NP_680130.1 |
rice (Oryza sativa) |
Liliopsida |
Os.44682 |
Oryza sativa (japonica cultivar-group) mRNA for UMP more |
75.14(n) |
  |
AF210323.1 |
ENSEMBL Gene Tree for UMPS (if available) TreeFam Gene Tree for UMPS (if available)  |
Paralogs for UMPS gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for UMPS gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 3 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for UMPS (124449213 - 124468120 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for UMPS: -- Human Gene Mutation Database (HGMD): UMPS
 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases for UMPS gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
UMPS for disorders About GeneDecksing
OMIM gene information: 613891
OMIM disorders: --
UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172
Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:258900]. A disorder of pyrimidinemetabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with somedegree of physical and mental retardation. A minority of cases have additional features, particularly congenitalmalformations and immune deficiencies 20/33 diseases for UMPS (see all 33): About MalaCardsorotic aciduria type 1 megaloblastic anemia oral squamous cell carcinoma squamous cell carcinoma neutropenia gastric cancer carcinoma renal cell carcinoma stomach cancer colon cancer bladder carcinoma pancreatic cancer colorectal cancer esophagitis pancreatitis anemia esophageal carcinoma colon carcinoma hepatocellular carcinoma esophageal cancer
10/26 Novoseek disease relationships for UMPS gene (see all 26) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| orotic aciduria hereditary |
81.5 |
1 |
10851269 (1) |
| orotic aciduria |
69.3 |
1 |
9042911 (1) |
| metastatic gastric cancer |
67.2 |
1 |
16952032 (1) |
| colorectal cancer |
62.6 |
34 |
20407238 (2), 15272584 (2), 11383215 (2), 15968317 (2) (see all 23) |
| gastric cancer |
61.9 |
27 |
16142362 (3), 16044965 (2), 17089033 (2), 17237621 (2) (see all 11) |
| gastric carcinoma |
57 |
58 |
18095079 (7), 16912530 (6), 16612158 (5), 11265402 (4) (see all 9) |
| colorectal carcinoma |
45.1 |
10 |
18949394 (2), 12720098 (2), 18383874 (1), 18630501 (1) (see all 5) |
| tumors |
42.7 |
97 |
16142362 (5), 11265402 (4), 17854773 (4), 16788943 (4) (see all 36) |
| colorectal tumors |
40.9 |
5 |
12506474 (1), 16477629 (1), 17454858 (1) |
| cancer |
39.6 |
43 |
16044965 (3), 16734727 (3), 12720098 (2), 14713770 (2) (see all 23) |
Genatlas disease: UMPS orotic aciduria I (O5D & OPT deficiency) Genetic Association Database (GAD): UMPS Human Genome Epidemiology (HuGE) Navigator: UMPS (6 documents) Export disorders for UMPS gene to outside databases
|
Publications for UMPS gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for UMPS gene, integrated from 9 sources (see all 201): (articles sorted by number of sources associating them with UMPS) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The relationship between 5-fluorouracil sensitivity and single nucleotide polymorphisms of the orotate phosphoribosyl transferase gene in colorectal cancer. (PubMed id 16328050)1, 4, 9 Kitajima M....Ochiai T. (2006)
- Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. (PubMed id 9042911)1, 2, 9 Suchi M.... Wada Y. (1997)
- Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design. (PubMed id 18184586)1, 2, 9 Wittmann J.G....Rudolph M.G. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization. (PubMed id 2767686)1, 3 Qumsiyeh M.B....Suttle D.P. (1989)
- Molecular cloning of human UMP synthase. (PubMed id 2624233)1, 2 Suchi M....Takagi Y. (1989)
- Molecular cloning and nucleotide sequence for the complete coding region of human UMP synthase. (PubMed id 3279416)1, 2 Suttle D.P.... Kanalas J.J. (1988)
- Expression of orotate phosphoribosyl transferase in human pancreatic cancer: implication for the efficacy of uracil and tegafur-based adjuvant chemotherapy. (PubMed id 17549346)1, 9 Nio Y....Fukushima M. (2007)
- Expression of orotate phosphoribosyltransferase (OPRT) in hepatobiliary and pancreatic carcinoma. (PubMed id 17607371)1, 9 Sanada Y....Tsutani Y. (2007)
- [Predictive value of orotate phosphoribosyltransferase in chemoresistant patients with gastric carcinoma who underwent S-1-based neoadjuvant/adjuvant chemotherapy] (PubMed id 18633253)1, 9 Sakurai Y....Tsutsumi Y. (2008)
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External Searches for UMPS gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing UMPS gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing UMPS gene
(According to HUGE)
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Specialized Databases showing UMPS gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for UMPS | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UMPS | | NIEHS-SNPs | http://egp.gs.washington.edu/data/umps/ |
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| Patent Information for UMPS gene: Search GeneIP for patents involving UMPS
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for UMPS gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for UMPS | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UMPS | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UMPS | | OriGene Protein Over-expression Lysate for UMPS | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for UMPS | | OriGene 3'-UTR Clone for UMPS | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UMPS | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UMPS | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for UMPS | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat UMPS | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UMPS | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UMPS | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UMPS | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UMPS | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UMPS |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMPS |
|  |  |  | | | Search ThermoFisher Antibodies for UMPS |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMPS |
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