1. Gene
  2. UGP2 - UDP-glucose pyrophosphorylase 2 Gene

UGP2 - UDP-glucose pyrophosphorylase 2 Gene

中文名称:UDP-葡萄糖焦磷酸化酶 2

种属: Homo sapiens

同用名: UDPG; UGP1; DEE83; UDPGP; UGPP1; UGPP2; EIEE83; SVUGP2; UDPGP2; pHC379

基因 ID: 7360 | 基因类型: protein coding

关于 UGP2

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:63,840,969-63,891,560 (from NCBI)

This gene has 39 transcripts (splice variants), 292 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 142.1), fat (RPKM 136.8) and 25 other tissues.

功能概要

由该基因编码的酶是哺乳动物碳水化合物相互转化的重要中介。它将葡萄糖部分从葡萄糖-1-磷酸转移到 MgUTP 并形成 UDP-葡萄糖和 MgPPi。在肝脏和肌肉组织中,UDP-葡萄糖是糖原的直接前体;在哺乳期的乳腺中,它会转化为 UDP-半乳糖,然后再转化为乳糖。真核酶与原核酶没有明显的序列相似性。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

The Enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic Enzyme has no significant sequence similarity to the prokaryotic Enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UGP2 基因产物(8)

mRNA Protein Name
NM_001001521.2 NP_001001521.1 UTP--glucose-1-phosphate uridylyltransferase isoform b
NM_001377524.1 NP_001364453.1 UTP--glucose-1-phosphate uridylyltransferase isoform b
NM_001377525.1 NP_001364454.1 UTP--glucose-1-phosphate uridylyltransferase isoform b
NM_001377526.1 NP_001364455.1 UTP--glucose-1-phosphate uridylyltransferase isoform c
NM_001377527.1 NP_001364456.1 UTP--glucose-1-phosphate uridylyltransferase isoform c
NM_001377528.1 NP_001364457.1 UTP--glucose-1-phosphate uridylyltransferase isoform c
NM_001377529.1 NP_001364458.1 UTP--glucose-1-phosphate uridylyltransferase isoform c
NM_006759.4 NP_006750.3 UTP--glucose-1-phosphate uridylyltransferase isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables UTP:glucose-1-phosphate uridylyltransferase activity IDA
IDA: 通过直接分析推断
22132858 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in UDP-glucose metabolic process IDA
IDA: 通过直接分析推断
8354390 GOA
involved in UDP-glucose metabolic process IMP
IMP: 通过突变表型推断
31820119 GOA
involved in brain development IMP
IMP: 通过突变表型推断
31820119 GOA
involved in glycogen biosynthetic process IMP
IMP: 通过突变表型推断
31820119 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

UGP2 蛋白结构

UDPGP

UDPGP: UTP--glucose-1-phosphate uridylyltransferase (54 - 473)

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  • 508 a.a.
蛋白主名 其他名称

UTP--glucose-1-phosphate uridylyltransferase

UDP-glucose diphosphorylase

UGP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
UGP2 Q16851 GLRX3 Homo sapiens O76003 25416956
种属内
UGP2 Q16851 GLRX3 Homo sapiens O76003 25416956
种属内
UGP2 Q16851 GRB2 Homo sapiens P62993 17474147
种属内
UGP2 Q16851 ARIH2 Homo sapiens O95376 25416956
种属内
UGP2 Q16851 ARIH2 Homo sapiens O95376 25416956
种属内
UGP2 Q16851 ARIH2 Homo sapiens O95376 16189514
种属内
UGP2 Q16851 PLEKHF2 Homo sapiens Q9H8W4 32296183
种属内
UGP2 Q16851 UGP2 Homo sapiens Q16851
Y2H
21988832
种属内
UGP2 Q16851 UGP2 Homo sapiens Q16851 16189514
种属内
UGP2 Q16851 UGP2 Homo sapiens Q16851 32296183
种属内
UGP2 Q16851 UGP2 Homo sapiens Q16851 25416956
种属内
UGP2 Q16851 UGP2 Homo sapiens Q16851 32296183
种属内
UGP2 Q16851 UGP2 Homo sapiens Q16851 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 83

DEE83

Epileptic Encephalopathy, Early Infantile, 83

Eiee83

Barakat-Perenthaler Syndrome

Developmental And Epileptic Encephalopathy, 83

Early Infantile Epileptic Encephalopathy 83

Encephalopathy, Epileptic, Early Infantile, Type 83

Advanced Sleep Phase Syndrome, Familial, 3

Advanced Sleep Phase Syndrome 3

FASPS3

Familial Advanced Sleep Phase Syndrome 3

Sleep Phase Syndrome, Advanced, Familial, Type 3

Galactosemia I

Galactosemia

Galt Deficiency

Classic Galactosemia

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactose-1-Phosphate Uridyltransferase Deficiency

GALAC1

Galactosemia, Classic

Galactosemia Type 1

Galactosemias

Classical Galactosemia

Galactosaemia

Galactose Intolerance

Epimerase Deficiency Galactosemia

Galactokinase Deficiency Disease

Galactose Epimerase Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Gale Deficiency

Galk Deficiency

Udp-Galactose-4-Epimerase Deficiency Disease

Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia 1

Galactosemia, Duarte Variant

Deficiency Of Galactokinase

Udpglucose 4-Epimerase Deficiency Disease

Classical Galactosaemia

Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

Classic Galactosaemia

Deficiency Of Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Galactose-1-Phosphate Uridylyltransferase

Galactose-1-Phosphate Uridyl Transferase Deficiency

Transferase Deficiency Galactosemia

Deficiency Of Uridyl Transferase

Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Galactosemia Iii

Galactose Epimerase Deficiency

Gale Deficiency

Udp-Galactose-4-Epimerase Deficiency

Epimerase Deficiency Galactosemia

Galactosemia Type 3

Gale-D

Uridine Diphosphate Galactose-4-Epimerase Deficiency

GALAC3

Galactosemia 3

Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

Galactosemia Type Iii

Udp-Galactose-4'-Epimerase Deficiency

Generalized Galactose Epimerase Deficiency

Generalized Gale Deficiency

Generalized Gale-D

Generalized Udp-Galactose-4-Epimerase Deficiency

Generalized Epimerase Deficiency Galactosemia

Erythrocyte Galactose Epimerase Deficiency

Erythrocyte Gale Deficiency

Erythrocyte Gale-D

Erythrocyte Udp-Galactose-4-Epimerase Deficiency

Erythrocyte Epimerase Deficiency Galactosemia

Galactosemias

Classical Galactosemia

Udpglucose 4-Epimerase Deficiency Disease

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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
Bos taurus UGP2 VGNC VGNC:36651
Macaca mulatta UGP2 VGNC VGNC:78712
Felis catus UGP2 VGNC VGNC:66808
Rattus norvegicus UGP2 RGD RGD:1310210
Mus musculus UGP2 MGD MGI:2183447
Canis familiaris UGP2 VGNC VGNC:48120