DPAGT1 - dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Gene

Homo sapiens

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

Gene ID: 1798 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03945	DPAGT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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