UMPS - uridine monophosphate synthetase Gene

Also Known as OPRT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7372

About UMPS

Cytogenetic location: 3q21.2 Genomic coordinates (GRCh38): 3:124,730,452-124,749,273 (from NCBI)

This gene has 11 transcripts (splice variants), 220 orthologues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 3.1), esophagus (RPKM 2.8) and 25 other tissues.

Summary

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]

UMPS Products (1)

mRNA	Protein	Name
NM_000373.4	NP_000364.1	uridine 5'-monophosphate synthase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	18184586	GOA
enables orotate phosphoribosyltransferase activity	IDA IDA: Inferred from direct assay	6893554	GOA
enables orotidine-5'-phosphate decarboxylase activity	IDA IDA: Inferred from direct assay	6893554	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in UMP biosynthetic process	IDA IDA: Inferred from direct assay	6893554	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15890648	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15890648	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UMPS Protein Structure

Pribosyltran

OMPdecase

0
100
200
300
400
480 a.a.

Protein Preferred Names	Protein Names
uridine 5'-monophosphate synthase	OMPdecase

UMPS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UMPS	P11172	EPHA4	Homo sapiens	P54764	Anti Tag CoIP	28514442
Intra	UMPS	P11172	EPHA4	Homo sapiens	P54764	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Orotic Aciduria	Hereditary Orotic Aciduria Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency Uridine Monophosphate Synthase Deficiency Umps Deficiency Uridine Monophosphate Synthetase Deficiency Orotic Aciduria I Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency Oprt And Odc Deficiency Ump Synthase Deficiency Orotic Aciduria Ii Oroticaciduria 1 Orotic Aciduria Hereditary Orotic Aciduria Type 1 Hereditary Orotic Aciduria Without Megaloblastic Anemia Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency Ump Synthtase Deficiency Umps Orotidylic Decarboxylase Deficiency Orotic Aciduria 1 ORAC1 Aciduria, Orotic Hereditary Orotic Aciduria, Type 1 Orotic Aciduria Nos Orotaciduric Anaemia Orotic Aciduria Anaemia Orotic Aciduria Megaloblastic Anaemia
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Developmental And Epileptic Encephalopathy 50	DEE50 Epileptic Encephalopathy, Early Infantile, 50 Eiee50 Developmental And Epileptic Encephalopathy, 50 Congenital Disorder Of Glycosylation, Type Iz, Formerly Cdg1z, Formerly Carbohydrate Deficient Glycoprotein Syndrome Type Iz Cdg Syndrome Type Iz Cdg-Iz Congenital Disorder Of Glycosylation Type 1z Early Infantile Epileptic Encephalopathy 50 Cdg1z Congenital Disorder Of Glycosylation 1z Encephalopathy, Epileptic, Early Infantile,, Type 50
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Arts Syndrome	ARTS Mrxsarts Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision Mrxs18 Lethal Ataxia With Deafness And Optic Atrophy Fatal X-Linked Ataxia With Deafness And Loss Of Vision Mental Retardation, X-Linked, Syndromic, Arts Type Mental Retardation, X-Linked, Syndromic 18 Syndromic X-Linked Mental Retardation 18 Syndromic X-Linked Mental Retardation Arts Type Lethal Ataxia-Deafness-Optic Atrophy X-Linked Fatal Ataxia With Deafness And Loss Of Vision Ataxia-Deafness-Optic Atrophy, Lethal Lethal Ataxia With Hearing Loss And Optic Atrophy Art
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Adenine Phosphoribosyltransferase Deficiency	Aprt Deficiency 2,8-Dihydroxyadenine Urolithiasis APRTD 2,8-Dihydroxyadeninuria Dihydroxyadeninuria Urolithiasis, 2,8-Dihydroxyadenine Urolithiasis, Dha Nephrolithiasis, Dha Dha Crystalline Nephropathy Nephrolithiasis Dha Urolithiasis Dha
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	CMTX5 Rosenberg-Chutorian Syndrome Charcot-Marie-Tooth Disease X-Linked Recessive 5 Optic Atrophy, Polyneuropathy, And Deafness Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 Cmt5x X-Linked Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 Optic Atrophy Polyneuropathy Deafness Optic Atrophy With Polyneuropathy And Deafness Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
Dihydropyrimidine Dehydrogenase Deficiency	Dpd Deficiency Familial Pyrimidinemia Hereditary Thymine-Uraciluria Dihydropyrimidinuria Dpyd Deficiency Thymine-Uraciluria, Hereditary Pyrimidinemia, Familial 5-Fluorouracil Toxicity Dihydrouracil Dehydrogenase Deficiency Familial Pyrimidinaemia Thymine-Uracilurea Familial Pyrimidemia Pyrimidinemia Familial DPYDD

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N0157	Orotic acid	Chemical	99.98%	Unkown
HY-N0157R	Orotic acid (Standard)	Chemical	99.51%	Unkown
HY-N0157A	Orotic acid zinc	Chemical	99.84%	Unkown

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131892	2-Deoxy-D-galactose		99.90%	Unkown
HY-N0157S1	Orotic acid-13C,15N2 monohydrate		99.93%	Unkown
HY-W009216R	2'-Deoxycytidine-5'-monophosphate (Standard)		99.60%	Unkown
HY-129963	3'-UMP disodium		98.92%	Unkown
HY-E70122	Uridylate kinase		/	Unkown
HY-N7396	UMP-morpholidate		98.01%	Unkown
HY-137607A	UMP-CP trisodium	Agonist	/	Unkown
HY-E71041	Cytidine deaminase, Human		/	Unkown
HY-RS15461	UMPS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-131822	5'-UMPS	Agonist	/	Unkown
HY-137604A	(γ-AmNS)UTP trisodium		/	Unkown
HY-160674	2',3'-Cyclic UMP		/	Unkown
HY-171515	2'-F-UMP		/	Unkown
HY-171516	2′-OMe-UMP		/	Unkown
HY-N8060	Orotidine 5′-monophosphate		/	Unkown
HY-RS19648	Umps Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26141	Umps Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W826156A	6-Aza-UMP disodium	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UMPS	MGD	MGI:1298388
Rattus norvegicus	UMPS	RGD	RGD:1311908
Canis familiaris	UMPS	VGNC	VGNC:48132
Bos taurus	UMPS	VGNC	VGNC:36661
Macaca mulatta	UMPS	VGNC	VGNC:78719
Felis catus	UMPS	VGNC	VGNC:66820
Others	UMPS	NCBI