Gene table of DPAGT1 : dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with DPAGT1OMIM linkNumber of associated genesgenes
PS212065CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE IClinVar, OMIM, HUMSAVAR link to OMIM 25ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4
PS601462MYASTHENIC SYNDROME, CONGENITALClinVar, OMIM, HUMSAVAR link to OMIM 23LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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Annotation of the gene DPAGT1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
N-Glycan biosynthesishsa005107.07
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinR-HSA-4461936.92
Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2R-HSA-454935612.98
Metabolism of proteinsR-HSA-3924993.41
Asparagine N-linked glycosylationR-HSA-4462036.1
Diseases of glycosylationR-HSA-37818656.89
Post-translational protein modificationR-HSA-5975924.54
Diseases associated with N-glycosylation of proteinsR-HSA-37818608.89
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
transferase activity, transferring glycosyl groupsGO:00167574.08
phosphotransferase activity, for other substituted phosphate groupsGO:00167806.79
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
phospho-N-acetylmuramoyl-pentapeptide-transferase activityGO:00089639.74
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activityGO:00039768.64
UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activityGO:00039759.74