UGGT1 - UDP-glucose glycoprotein glucosyltransferase 1 Gene

Homo sapiens

Also known as UGT1; HUGT1; UGCGL1

Gene ID: 56886 | Gene type: protein coding

About UGGT1

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:128,091,200-128,195,677 (from NCBI)

This gene has 7 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 7.1), colon (RPKM 6.3) and 25 other tissues.

Summary

UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]

UGGT1 Products(1)

mRNA	Protein	Name
NM_020120.4	NP_064505.1	UDP-glucose:glycoprotein glucosyltransferase 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables UDP-glucose:glycoprotein glucosyltransferase activity	IDA IDA: Inferred from direct assay	10694380	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23349634	GOA
enables unfolded protein binding	IDA IDA: Inferred from direct assay	10694380	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10694380	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	23349634	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

UGGT1 Protein Structure

UDP-g_GGTase

0
300
600
900
1200
1555 a.a.

Protein Preferred Names

Protein Names

UDP-glucose:glycoprotein glucosyltransferase 1

UDP--Glc:glycoprotein glucosyltransferase

Related Diseases

Diseases

Alias

Pulmonary Subvalvular Stenosis

Pulmonary Infundibular Stenosis	Congenital Infundibular Stenosis
Infundibular Pulmonic Stenosis	Infundibular Pulmonic Stenosis, Congenital
Subvalvular Pulmonic Stenosis

Terminal Osseous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defects	Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Todpd	TOD
Odpd	Odpf Syndrome
Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula	Odpf
Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula	Terminal Osseous Dysplasia With Pigmentary Defects
Dcd	Digitocutaneous Dysplasia
Terminal Osseous Dysplasia And Pigmentary Defect Syndrome	Osseous Dysplasia And Pigmentary Defects

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease	Isolated Polycystic Liver Disease
Pcld	Congenital Cystic Liver Disease
Congenital Hepatic Cyst	Fibrocystic Liver Disease
Isolated Autosomal Dominant Polycystic Liver Disease	Adpcld
Liver Disease, Polycystic	Multiple Cysts Of Liver
Pld - [Polycystic Liver Disease]	Polycystic Liver Disorder
Polycystic Liver	Congenital Polycystic Disease Of Liver
Congenital Polycystic Liver Disease

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-RS15423	UGGT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UGGT1	MGD	MGI:2443162
Bos taurus	UGGT1	VGNC	VGNC:36649
Rattus norvegicus	UGGT1	RGD	RGD:619710
Felis catus	UGGT1	VGNC	VGNC:66806
Macaca mulatta	UGGT1	VGNC	VGNC:78981
Canis familiaris	UGGT1	VGNC	VGNC:48118

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