UGGT1 - UDP-glucose glycoprotein glucosyltransferase 1 Gene

Also Known as UGT1; HUGT1; UGCGL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56886

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	References	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	References	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

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 Set	/	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