DPAGT1 - dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Gene

Also Known as GPT; ALG7; DGPT; G1PT; UAGT; UGAT; CDG1J; CMS13; DPAGT; CDG-Ij; CMSTA2; DPAGT2; D11S366

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1798

About DPAGT1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,093,874-119,101,853 (from NCBI)

This gene has 44 transcripts (splice variants), 203 orthologues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 9.9), urinary bladder (RPKM 8.6) and 25 other tissues.

Summary

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the Glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

DPAGT1 Products (1)

mRNA	Protein	Name
NM_001382.4	NP_001373.2	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IDA IDA: Inferred from direct assay	8179616	GOA
enables UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IMP IMP: Inferred from mutant phenotype	12872255	GOA
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IDA IDA: Inferred from direct assay	6289658	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in dolichol-linked oligosaccharide biosynthetic process	IDA IDA: Inferred from direct assay	29459785	GOA
involved in protein N-linked glycosylation	IMP IMP: Inferred from mutant phenotype	19549906	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in intracellular membrane-bounded organelle	IDA IDA: Inferred from direct assay	12872255	GOA
located in membrane	IDA IDA: Inferred from direct assay	8179616	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

DPAGT1 Protein Structure

Glycos_transf_4

0
100
200
300
408 a.a.

Protein Preferred Names	Protein Names
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	GlcNAc-1-P transferase 1

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Ij	CDG1J Cdg Ij Cdgij Congenital Disorder Of Glycosylation 1j Dpagt1-Cdg Cdg-Ij Congenital Disorder Of Glycosylation Type 1j Congenital Disorder Of Glycosylation Type Ij Congenital Disorder Of Glycosylation Ij Cdg Syndrome Type Ij Carbohydrate Deficient Glycoprotein Syndrome Type Ij Dolichyl-Phosphate N-Acetylgalactosamine Phosphotransferase Deficiency Glycosylation, Congenital Disorder Of, Type Ij
Myasthenic Syndrome, Congenital, 13	Congenital Myasthenic Syndrome 13 CMS13 Cmsta2 Myasthenic Syndrome, Congenital, With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates Congenital Myasthenic Syndrome 13 With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2
Congenital Myasthenic Syndromes With Glycosylation Defect
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Myasthenic Syndrome, Congenital, 21, Presynaptic	Congenital Myasthenic Syndrome 21 CMS21 Congenital Myasthenic Syndrome 21, Presynaptic
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Congenital Disorder Of Glycosylation, Type Im	Dolichol Kinase Deficiency CDG1M Dk1 Deficiency Cdg Im Cdgim Congenital Disorder Of Glycosylation Im Congenital Disorder Of Glycosylation 1m Dolk-Congenital Disorder Of Glycosylation Dk1-Cdg Cdg-Im Congenital Disorder Of Glycosylation Type Im Cdg Syndrome Type Im Carbohydrate Deficient Glycoprotein Syndrome Type Im Congenital Disorder Of Glycosylation Type 1m Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency Glycosylation, Congenital Disorder Of, Type Im
Myasthenic Syndrome, Congenital, 15	Congenital Myasthenic Syndrome 15 CMS15 Myasthenic Syndrome, Congenital, Without Tubular Aggregates Cmswta Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates Congenital Myasthenic Syndrome 15 Without Tubular Aggregates Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Myasthenic Syndrome, Congenital, 12	Congenital Myasthenic Syndrome 12 CMS12 Myasthenic Syndrome, Congenital, With Tubular Aggregates 1 Cmsta1 Myasthenia, Congenital, 12, With Tubular Aggregates Congenital Myasthenia 12 With Tubular Aggregates Limb-Girdle Myasthenia With Tubular Aggregates Myasthenia, Congenital, With Tubular Aggregates 1 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03945	DPAGT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DPAGT1	RGD	RGD:735124
Bos taurus	DPAGT1	VGNC	VGNC:28174
Felis catus	DPAGT1	VGNC	VGNC:61592
Canis familiaris	DPAGT1	VGNC	VGNC:40064
Mus musculus	DPAGT1	MGD	MGI:1196396
Macaca mulatta	DPAGT1	VGNC	VGNC:71971
Others	DPAGT1	NCBI