UGP2 - UDP-glucose pyrophosphorylase 2 Gene

Also Known as UDPG; UGP1; DEE83; UDPGP; UGPP1; UGPP2; EIEE83; SVUGP2; UDPGP2; pHC379

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7360

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables UTP:glucose-1-phosphate uridylyltransferase activity IDA
IDA: Inferred from direct assay
22132858 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence References Source
involved in UDP-glucose metabolic process IDA
IDA: Inferred from direct assay
8354390 GOA
involved in UDP-glucose metabolic process IMP
IMP: Inferred from mutant phenotype
31820119 GOA
involved in brain development IMP
IMP: Inferred from mutant phenotype
31820119 GOA
involved in glycogen biosynthetic process IMP
IMP: Inferred from mutant phenotype
31820119 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

UGP2 Protein Structure

UDPGP

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 508 a.a.
Protein Preferred Names Protein Names

UTP--glucose-1-phosphate uridylyltransferase

  • UDP-glucose diphosphorylase

UGP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
UGP2 Q16851 GLRX3 Homo sapiens O76003 25416956
Intra
UGP2 Q16851 GLRX3 Homo sapiens O76003 25416956
Intra
UGP2 Q16851 GRB2 Homo sapiens P62993 17474147
Intra
UGP2 Q16851 ARIH2 Homo sapiens O95376 25416956
Intra
UGP2 Q16851 ARIH2 Homo sapiens O95376 25416956
Intra
UGP2 Q16851 ARIH2 Homo sapiens O95376 16189514
Intra
UGP2 Q16851 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
UGP2 Q16851 UGP2 Homo sapiens Q16851
Y2H
21988832
Intra
UGP2 Q16851 UGP2 Homo sapiens Q16851 16189514
Intra
UGP2 Q16851 UGP2 Homo sapiens Q16851 32296183
Intra
UGP2 Q16851 UGP2 Homo sapiens Q16851 25416956
Intra
UGP2 Q16851 UGP2 Homo sapiens Q16851 32296183
Intra
UGP2 Q16851 UGP2 Homo sapiens Q16851 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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
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
Others UGP2 NCBI