dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Summary
Gene Symbol
  • DPAGT1
Aliases
  • ALG7
  • CDG-Ij
  • D11S366
  • DGPT
  • GPT
  • GlcNAc-1-P transferase 1
  • UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
1798
GGDB ID
HGNC
2995
mRNA
map
  • 11q23.3
Protein
OMIM
KEGG Gene ID
hsa:1798
PubChem
1798
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Congenital myasthenic syndrome
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Magnesium
  • Metal-binding
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
Q9H3H5
  • GlcNAc-1-P transferase
  • N-acetylglucosamine-1-phosphate transferase
A0A804HI18
  • GlcNAc-1-P transferase
  • N-acetylglucosamine-1-phosphate transferase
A0A024R3H8
  • GlcNAc-1-P transferase
  • N-acetylglucosamine-1-phosphate transferase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000172269

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01001
Name
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase [EC:2.7.8.15]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 58 in total
DO ID Disease Name Source
DOID:0050214 Lambert-Eaton myasthenic syndrome
DOID:0050570 congenital disorder of glycosylation type I
DOID:0050865 tongue squamous cell carcinoma
DOID:0060243 stuttering
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0080070 mucolipidosis II alpha/beta
DOID:0080199 colorectal carcinoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 116 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000347 Micrognathia
HP:0000365 Hearing impairment
HP:0000483 Astigmatism
HP:0000486 Strabismus
HP:0000508 Ptosis
HP:0000510 Rod-cone dystrophy
Displaying all 4 entries
Disease ID Disease Name
ORPHA:86309
  • DPAGT1-congenital disorder of glycosylation
OMIM:608093
  • DPAGT1-congenital disorder of glycosylation
ORPHA:353327
  • obsolete congenital myasthenic syndromes with glycosylation defect
OMIM:614750
  • congenital myasthenic syndrome 13
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002444
Gene Name
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024