1. Gene
  2. UMPS - uridine monophosphate synthetase Gene

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

UMPS Protein Structure

Pribosyltran

Pribosyltran: Phosphoribosyl transferase domain (43 - 152)

OMPdecase

OMPdecase: Orotidine 5'-phosphate decarboxylase / HUMPS family (252 - 466)

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  • 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

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