DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)

2009-10-01 Affiliation

Identity

HGNC

DPAGT1

LOCATION

11q23.3

LOCUSID

1798

ALIAS

ALG7,CDG-Ij,CDG1J,CMS13,CMSTA2,D11S366,DGPT,DPAGT,DPAGT2,G1PT,GPT,UAGT,UGAT

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1798
MIM: 191350
HGNC: 2995
Ensembl: ENSG00000172269

Variants:

dbSNP: 1798
ClinVar: 1798
TCGA: ENSG00000172269
COSMIC: DPAGT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000172269	ENST00000354202	Q9H3H5
ENSG00000172269	ENST00000354202	A0A024R3H8
ENSG00000172269	ENST00000392834	F8W681
ENSG00000172269	ENST00000409993	Q9H3H5
ENSG00000172269	ENST00000409993	A0A024R3H8
ENSG00000172269	ENST00000414373	F8WE55
ENSG00000172269	ENST00000442480	H7C2L6
ENSG00000172269	ENST00000636404	A0A1B0GV58
ENSG00000172269	ENST00000638850	A0A1W2PQH0
ENSG00000172269	ENST00000639704	A0A1W2PPC6
ENSG00000172269	ENST00000640102	A0A1W2PQD1
ENSG00000172269	ENST00000640747	A0A1W2PRR6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
N-Glycan biosynthesis	KEGG	ko00510
N-Glycan biosynthesis	KEGG	hsa00510
Metabolic pathways	KEGG	hsa01100
N-glycan precursor biosynthesis	KEGG	hsa_M00055
N-glycan precursor biosynthesis	KEGG	M00055
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37005892	2023	Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.	0
37421173	2023	DPAGT1-CDG: Recurrent fetal death.	0
37005892	2023	Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.	0
37421173	2023	DPAGT1-CDG: Recurrent fetal death.	0
32720371	2021	LncRNA LINC00467 acted as an oncogene in esophageal squamous cell carcinoma by accelerating cell proliferation and preventing cell apoptosis via the miR-485-5p/DPAGT1 axis.	15
32901097	2021	NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment.	8
32720371	2021	LncRNA LINC00467 acted as an oncogene in esophageal squamous cell carcinoma by accelerating cell proliferation and preventing cell apoptosis via the miR-485-5p/DPAGT1 axis.	15
32901097	2021	NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment.	8
28712839	2019	Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.	2
31153949	2019	Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.	1
28712839	2019	Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.	2
31153949	2019	Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.	1
28662078	2017	DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.	15
28662078	2017	DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.	15
25408354	2015	N-acetylglucosaminyl 1-phosphate transferase: an excellent target for developing new generation breast cancer therapeutic.	6

Citation

Dessen P

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-10-01

Online version: http://atlasgeneticsoncology.org/gene/51157/case-report-explorer/tumors-explorer/favicon/favicon-16x16.png