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  2. UMPS - uridine monophosphate synthetase Gene

UMPS - uridine monophosphate synthetase Gene

中文名称:尿苷一磷酸合成酶

种属: Homo sapiens

同用名: OPRT

基因 ID: 7372 | 基因类型: protein coding

关于 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.

功能概要

该基因编码尿苷 5'-单磷酸合酶。编码的蛋白质是一种双功能酶,可催化从头嘧啶生物合成途径的最后两个步骤。第一个反应由 N 端酶乳清酸磷酸核糖基转移酶进行,该酶将乳清酸转化为乳清酸-5'-单磷酸。末端反应由 C 末端酶 OMP 脱羧酶进行,该酶将 orotidine-5'-monophosphate 转化为 urotine monophosphate。该基因的缺陷是遗传性乳清酸尿症的原因。交替剪接导致多个转录本变体。[RefSeq 提供,2010 年 3 月]

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 基因产物(1)

mRNA Protein Name
NM_000373.4 NP_000364.1 uridine 5'-monophosphate synthase
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
18184586 GOA
enables orotate phosphoribosyltransferase activity IDA
IDA: 通过直接分析推断
6893554 GOA
enables orotidine-5'-phosphate decarboxylase activity IDA
IDA: 通过直接分析推断
6893554 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in UMP biosynthetic process IDA
IDA: 通过直接分析推断
6893554 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15890648 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15890648 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

UMPS 蛋白结构

Pribosyltran

Pribosyltran: Phosphoribosyl transferase domain (43 - 152)

OMPdecase

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 480 a.a.
蛋白主名 其他名称

uridine 5'-monophosphate synthase

OMPdecase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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