UGP2 - UDP-glucose pyrophosphorylase 2 Gene

Homo sapiens

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

Gene ID: 7360 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	UGP2	Q16851	GLRX3	Homo sapiens	O76003	Validated Y2H	25416956
Intra	UGP2	Q16851	GLRX3	Homo sapiens	O76003	Y2H Array	25416956
Intra	UGP2	Q16851	GRB2	Homo sapiens	P62993	Peptide Array	17474147
Intra	UGP2	Q16851	ARIH2	Homo sapiens	O95376	Y2H Prey Pooling	25416956
Intra	UGP2	Q16851	ARIH2	Homo sapiens	O95376	Y2H Array	25416956
Intra	UGP2	Q16851	ARIH2	Homo sapiens	O95376	Y2H Pooling	16189514
Intra	UGP2	Q16851	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
Intra	UGP2	Q16851	UGP2	Homo sapiens	Q16851	Y2H	21988832
Intra	UGP2	Q16851	UGP2	Homo sapiens	Q16851	Y2H Pooling	16189514
Intra	UGP2	Q16851	UGP2	Homo sapiens	Q16851	Validated Y2H	32296183
Intra	UGP2	Q16851	UGP2	Homo sapiens	Q16851	Y2H Array	25416956
Intra	UGP2	Q16851	UGP2	Homo sapiens	Q16851	Y2H Array	32296183
Intra	UGP2	Q16851	UGP2	Homo sapiens	Q16851	Y2H Prey Pooling	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15425	UGP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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