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Protein

Uridine 5'-monophosphate synthase

Gene

UMPS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

Orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate.
Orotidine 5'-phosphate = UMP + CO2.

Pathwayi: UMP biosynthesis via de novo pathway

This protein is involved in step 1 and 2 of the subpathway that synthesizes UMP from orotate.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Uridine 5'-monophosphate synthase (UMPS)
  2. Uridine 5'-monophosphate synthase (UMPS), Orotidine 5'-phosphate decarboxylase (UMPS), Orotidine 5'-phosphate decarboxylase (UMPS), Orotidine 5'-phosphate decarboxylase (pyrF)
This subpathway is part of the pathway UMP biosynthesis via de novo pathway, which is itself part of Pyrimidine metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes UMP from orotate, the pathway UMP biosynthesis via de novo pathway and in Pyrimidine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei312For OMPdecase activity1 Publication1
Active sitei314For OMPdecase activity1 Publication1
Active sitei317For OMPdecase activity1 Publication1

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • orotate phosphoribosyltransferase activity Source: UniProtKB
  • orotidine-5'-phosphate decarboxylase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDecarboxylase, Glycosyltransferase, Lyase, Multifunctional enzyme, Transferase
Biological processPyrimidine biosynthesis

Enzyme and pathway databases

BRENDAi4.1.1.23 2681
ReactomeiR-HSA-500753 Pyrimidine biosynthesis
SIGNORiP11172
UniPathwayi
UPA00070;UER00119

UPA00070;UER00120

Names & Taxonomyi

Protein namesi
Recommended name:
Uridine 5'-monophosphate synthase
Short name:
UMP synthase
Including the following 2 domains:
Orotate phosphoribosyltransferase (EC:2.4.2.10)
Short name:
OPRT
Short name:
OPRTase
Orotidine 5'-phosphate decarboxylase (EC:4.1.1.23)
Short name:
ODC
Alternative name(s):
OMPdecase
Gene namesi
Name:UMPS
ORF Names:OK/SW-cl.21
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114491.13
HGNCiHGNC:12563 UMPS
MIMi613891 gene
neXtProtiNX_P11172

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Orotic aciduria 1 (ORAC1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:258900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00680796R → G in ORAC1. 1 PublicationCorresponds to variant dbSNP:rs121917890EnsemblClinVar.1
Natural variantiVAR_006808109V → G in ORAC1. 1 PublicationCorresponds to variant dbSNP:rs121917892EnsemblClinVar.1
Natural variantiVAR_006810429G → R in ORAC1. 1 PublicationCorresponds to variant dbSNP:rs121917891EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi312D → N: Loss of OMPdecase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7372
MalaCardsiUMPS
MIMi258900 phenotype
OpenTargetsiENSG00000114491
Orphaneti30 Hereditary orotic aciduria
PharmGKBiPA363

Chemistry databases

ChEMBLiCHEMBL5216
DrugBankiDB02890 6-Hydroxyuridine-5'-Phosphate
DB00544 Fluorouracil

Polymorphism and mutation databases

BioMutaiUMPS

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001396492 – 480Uridine 5'-monophosphate synthaseAdd BLAST479

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei37PhosphotyrosineCombined sources1
Modified residuei214PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP11172
MaxQBiP11172
PaxDbiP11172
PeptideAtlasiP11172
PRIDEiP11172
ProteomicsDBi52713
52714 [P11172-2]

PTM databases

iPTMnetiP11172
PhosphoSitePlusiP11172

Expressioni

Gene expression databases

BgeeiENSG00000114491 Expressed in 217 organ(s), highest expression level in placenta
CleanExiHS_UMPS
ExpressionAtlasiP11172 baseline and differential
GenevisibleiP11172 HS

Organism-specific databases

HPAiHPA036178
HPA036179

Interactioni

Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113218, 53 interactors
DIPiDIP-29595N
IntActiP11172, 24 interactors
MINTiP11172
STRINGi9606.ENSP00000232607

Chemistry databases

BindingDBiP11172

Structurei

Secondary structure

1480
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP11172
SMRiP11172
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP11172

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 214OPRTaseAdd BLAST213
Regioni215 – 220Domain linker6
Regioni221 – 480OMPdecaseAdd BLAST260

Sequence similaritiesi

In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.Curated
In the C-terminal section; belongs to the OMP decarboxylase family.Curated

Phylogenomic databases

eggNOGiKOG1377 Eukaryota
COG0284 LUCA
COG0461 LUCA
GeneTreeiENSGT00390000001856
HOGENOMiHOG000213905
HOVERGENiHBG000870
KOiK13421
OMAiEQGGKDK
OrthoDBiEOG091G06JT
PhylomeDBiP11172
TreeFamiTF314694

Family and domain databases

CDDicd06223 PRTases_typeI, 1 hit
Gene3Di3.20.20.70, 1 hit
HAMAPiMF_01208 PyrE, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR014732 OMPdecase
IPR018089 OMPdecase_AS
IPR001754 OMPdeCOase_dom
IPR023031 OPRT
IPR004467 Or_phspho_trans_dom
IPR000836 PRibTrfase_dom
IPR029057 PRTase-like
IPR011060 RibuloseP-bd_barrel
PfamiView protein in Pfam
PF00215 OMPdecase, 1 hit
PF00156 Pribosyltran, 1 hit
SMARTiView protein in SMART
SM00934 OMPdecase, 1 hit
SUPFAMiSSF51366 SSF51366, 1 hit
SSF53271 SSF53271, 1 hit
TIGRFAMsiTIGR00336 pyrE, 1 hit
TIGR01740 pyrF, 1 hit
PROSITEiView protein in PROSITE
PS00156 OMPDECASE, 1 hit
PS00103 PUR_PYR_PR_TRANSFER, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P11172-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAVARAALGP LVTGLYDVQA FKFGDFVLKS GLSSPIYIDL RGIVSRPRLL
60 70 80 90 100
SQVADILFQT AQNAGISFDT VCGVPYTALP LATVICSTNQ IPMLIRRKET
110 120 130 140 150
KDYGTKRLVE GTINPGETCL IIEDVVTSGS SVLETVEVLQ KEGLKVTDAI
160 170 180 190 200
VLLDREQGGK DKLQAHGIRL HSVCTLSKML EILEQQKKVD AETVGRVKRF
210 220 230 240 250
IQENVFVAAN HNGSPLSIKE APKELSFGAR AELPRIHPVA SKLLRLMQKK
260 270 280 290 300
ETNLCLSADV SLARELLQLA DALGPSICML KTHVDILNDF TLDVMKELIT
310 320 330 340 350
LAKCHEFLIF EDRKFADIGN TVKKQYEGGI FKIASWADLV NAHVVPGSGV
360 370 380 390 400
VKGLQEVGLP LHRGCLLIAE MSSTGSLATG DYTRAAVRMA EEHSEFVVGF
410 420 430 440 450
ISGSRVSMKP EFLHLTPGVQ LEAGGDNLGQ QYNSPQEVIG KRGSDIIIVG
460 470 480
RGIISAADRL EAAEMYRKAA WEAYLSRLGV
Length:480
Mass (Da):52,222
Last modified:July 1, 1989 - v1
Checksum:iD985CD566B72F5CA
GO
Isoform 2 (identifier: P11172-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.

Note: No experimental confirmation available.
Show »
Length:302
Mass (Da):33,051
Checksum:i4B88EE5A8DC6FA65
GO
Isoform 3 (identifier: P11172-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.

Show »
Length:388
Mass (Da):42,495
Checksum:i1AA9931DE4283ABB
GO
Isoform 4 (identifier: P11172-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.
     328-424: Missing.

Show »
Length:205
Mass (Da):22,922
Checksum:i464CD94C5FDD0E5A
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PFD2E9PFD2_HUMAN
Uridine 5'-monophosphate synthase
UMPS
342Annotation score:
F8WDG4F8WDG4_HUMAN
Uridine 5'-monophosphate synthase
UMPS
142Annotation score:
F2Z303F2Z303_HUMAN
Uridine 5'-monophosphate synthase
UMPS
66Annotation score:
F2Z3P2F2Z3P2_HUMAN
Uridine 5'-monophosphate synthase
UMPS
57Annotation score:

Sequence cautioni

The sequence CAB45710 differs from that shown. Reason: Erroneous termination at position 430. Translated as Gln.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13T → G in AAA61256 (Ref. 11) Curated1
Sequence conflicti377L → Q in AAA61256 (Ref. 11) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02061430S → G1 PublicationCorresponds to variant dbSNP:rs17843776EnsemblClinVar.1
Natural variantiVAR_00680796R → G in ORAC1. 1 PublicationCorresponds to variant dbSNP:rs121917890EnsemblClinVar.1
Natural variantiVAR_006808109V → G in ORAC1. 1 PublicationCorresponds to variant dbSNP:rs121917892EnsemblClinVar.1
Natural variantiVAR_006809213G → A2 PublicationsCorresponds to variant dbSNP:rs1801019EnsemblClinVar.1
Natural variantiVAR_006810429G → R in ORAC1. 1 PublicationCorresponds to variant dbSNP:rs121917891EnsemblClinVar.1
Natural variantiVAR_020615446I → V1 PublicationCorresponds to variant dbSNP:rs3772809EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0092731 – 178Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST178
Alternative sequenceiVSP_0476111 – 92Missing in isoform 3. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_047612328 – 424Missing in isoform 4. 1 PublicationAdd BLAST97

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03626 mRNA Translation: AAA61255.1
D86227 mRNA Translation: BAA19920.1
D86228 mRNA Translation: BAA19921.1
D86230 mRNA Translation: BAA19923.1
AB041359 Genomic DNA Translation: BAB20663.1
EU921891 mRNA Translation: ACH48229.1
EU921895 mRNA Translation: ACH48233.1
AB062285 mRNA Translation: BAB93468.1
CR456787 mRNA Translation: CAG33068.1
AL080099 mRNA Translation: CAB45710.3 Sequence problems.
AY691629 Genomic DNA Translation: AAT85801.1
AC022336 Genomic DNA No translation available.
BC000364 mRNA Translation: AAH00364.1
BC007511 mRNA Translation: AAH07511.1
M36661 mRNA Translation: AAA61256.1
CCDSiCCDS3029.1 [P11172-1]
PIRiA30148
RefSeqiNP_000364.1, NM_000373.3 [P11172-1]
UniGeneiHs.2057

Genome annotation databases

EnsembliENST00000232607; ENSP00000232607; ENSG00000114491 [P11172-1]
GeneIDi7372
KEGGihsa:7372
UCSCiuc003ehl.5 human [P11172-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03626 mRNA Translation: AAA61255.1
D86227 mRNA Translation: BAA19920.1
D86228 mRNA Translation: BAA19921.1
D86230 mRNA Translation: BAA19923.1
AB041359 Genomic DNA Translation: BAB20663.1
EU921891 mRNA Translation: ACH48229.1
EU921895 mRNA Translation: ACH48233.1
AB062285 mRNA Translation: BAB93468.1
CR456787 mRNA Translation: CAG33068.1
AL080099 mRNA Translation: CAB45710.3 Sequence problems.
AY691629 Genomic DNA Translation: AAT85801.1
AC022336 Genomic DNA No translation available.
BC000364 mRNA Translation: AAH00364.1
BC007511 mRNA Translation: AAH07511.1
M36661 mRNA Translation: AAA61256.1
CCDSiCCDS3029.1 [P11172-1]
PIRiA30148
RefSeqiNP_000364.1, NM_000373.3 [P11172-1]
UniGeneiHs.2057

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EAWX-ray2.88A/B190-480[»]
2JGYX-ray1.95A/B224-479[»]
2P1FX-ray1.76A190-480[»]
2QCCX-ray1.85A/B224-480[»]
2QCDX-ray2.03A/B224-480[»]
2QCEX-ray1.43A224-480[»]
2QCFX-ray1.22A224-480[»]
2QCGX-ray1.75A/B224-480[»]
2QCHX-ray1.95A/B224-480[»]
2QCLX-ray1.85A/B224-480[»]
2QCMX-ray1.67A224-480[»]
2QCNX-ray1.85A/B224-480[»]
2V30X-ray2.00A/B224-479[»]
2WNSX-ray1.90A/B7-203[»]
3BGGX-ray1.93A190-480[»]
3BGJX-ray2.00A/B190-480[»]
3BK0X-ray1.60A/B223-480[»]
3BVJX-ray1.80A/B190-480[»]
3DBPX-ray1.50A/B223-480[»]
3EWUX-ray1.60A/B224-480[»]
3EWWX-ray1.10A/B224-480[»]
3EWXX-ray1.40A224-480[»]
3EWYX-ray1.10A224-480[»]
3EWZX-ray1.40A/B/C/D224-480[»]
3EX1X-ray1.40A/B224-480[»]
3EX2X-ray1.55A/B224-480[»]
3EX3X-ray1.45A/B224-480[»]
3EX4X-ray1.24A224-480[»]
3EX6X-ray1.30A/B224-480[»]
3G3DX-ray1.70A/B190-480[»]
3G3MX-ray1.40A223-480[»]
3L0KX-ray1.34A/B224-480[»]
3L0NX-ray1.74A/B224-480[»]
3MI2X-ray1.20A/B223-480[»]
3MO7X-ray1.35A223-480[»]
3MW7X-ray2.32A/B190-480[»]
4HIBX-ray1.80A/B190-480[»]
4HKPX-ray1.75A/B190-480[»]
ProteinModelPortaliP11172
SMRiP11172
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113218, 53 interactors
DIPiDIP-29595N
IntActiP11172, 24 interactors
MINTiP11172
STRINGi9606.ENSP00000232607

Chemistry databases

BindingDBiP11172
ChEMBLiCHEMBL5216
DrugBankiDB02890 6-Hydroxyuridine-5'-Phosphate
DB00544 Fluorouracil

PTM databases

iPTMnetiP11172
PhosphoSitePlusiP11172

Polymorphism and mutation databases

BioMutaiUMPS

Proteomic databases

EPDiP11172
MaxQBiP11172
PaxDbiP11172
PeptideAtlasiP11172
PRIDEiP11172
ProteomicsDBi52713
52714 [P11172-2]

Protocols and materials databases

DNASUi7372
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000232607; ENSP00000232607; ENSG00000114491 [P11172-1]
GeneIDi7372
KEGGihsa:7372
UCSCiuc003ehl.5 human [P11172-1]

Organism-specific databases

CTDi7372
DisGeNETi7372
EuPathDBiHostDB:ENSG00000114491.13
GeneCardsiUMPS
HGNCiHGNC:12563 UMPS
HPAiHPA036178
HPA036179
MalaCardsiUMPS
MIMi258900 phenotype
613891 gene
neXtProtiNX_P11172
OpenTargetsiENSG00000114491
Orphaneti30 Hereditary orotic aciduria
PharmGKBiPA363
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1377 Eukaryota
COG0284 LUCA
COG0461 LUCA
GeneTreeiENSGT00390000001856
HOGENOMiHOG000213905
HOVERGENiHBG000870
KOiK13421
OMAiEQGGKDK
OrthoDBiEOG091G06JT
PhylomeDBiP11172
TreeFamiTF314694

Enzyme and pathway databases

UniPathwayi
UPA00070;UER00119

UPA00070;UER00120

BRENDAi4.1.1.23 2681
ReactomeiR-HSA-500753 Pyrimidine biosynthesis
SIGNORiP11172

Miscellaneous databases

ChiTaRSiUMPS human
EvolutionaryTraceiP11172
GeneWikiiUridine_monophosphate_synthetase
GenomeRNAii7372
PROiPR:P11172
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114491 Expressed in 217 organ(s), highest expression level in placenta
CleanExiHS_UMPS
ExpressionAtlasiP11172 baseline and differential
GenevisibleiP11172 HS

Family and domain databases

CDDicd06223 PRTases_typeI, 1 hit
Gene3Di3.20.20.70, 1 hit
HAMAPiMF_01208 PyrE, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR014732 OMPdecase
IPR018089 OMPdecase_AS
IPR001754 OMPdeCOase_dom
IPR023031 OPRT
IPR004467 Or_phspho_trans_dom
IPR000836 PRibTrfase_dom
IPR029057 PRTase-like
IPR011060 RibuloseP-bd_barrel
PfamiView protein in Pfam
PF00215 OMPdecase, 1 hit
PF00156 Pribosyltran, 1 hit
SMARTiView protein in SMART
SM00934 OMPdecase, 1 hit
SUPFAMiSSF51366 SSF51366, 1 hit
SSF53271 SSF53271, 1 hit
TIGRFAMsiTIGR00336 pyrE, 1 hit
TIGR01740 pyrF, 1 hit
PROSITEiView protein in PROSITE
PS00156 OMPDECASE, 1 hit
PS00103 PUR_PYR_PR_TRANSFER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUMPS_HUMAN
AccessioniPrimary (citable) accession number: P11172
Secondary accession number(s): B5LY68
, B5LY72, O00758, O00759, O00760, Q16862, Q9H3Q2, Q9UG49
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 1, 1989
Last modified: November 7, 2018
This is version 206 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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