UMPS - uridine monophosphate synthetase Gene

Homo sapiens

Also known as OPRT

Gene ID: 7372 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in UMP biosynthetic process	IDA IDA: Inferred from direct assay	6893554	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N0157	Orotic acid	Chemical	98.14%	Unkown
HY-N0157A	Orotic acid zinc	Chemical	99.84%	Unkown
HY-N0157R	Orotic acid (Standard)	Chemical	/	Unkown

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122502	Pyrazofurin	Inhibitor	≥98.0%	Unkown
HY-N0157S1	Orotic acid-13C,15N2 monohydrate		99.93%	Unkown
HY-131892	2-Deoxy-D-galactose		/	Unkown
HY-N7396	UMP-morpholidate		98.01%	Unkown
HY-E70122	Uridylate kinase		/	Unkown
HY-N8060	Orotidine 5′-monophosphate		/	Unkown
HY-RS15461	UMPS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-131822	5'-UMPS	Agonist	/	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

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