Gene table of POMGNT1 : protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Gene-disease associations table

Disease IDDisease nameSource of annotation with POMGNT1OMIM linkNumber of associated genesgenes
PS253600MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 24SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC
PS613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE BClinVar, OMIM, HUMSAVAR link to OMIM 7GMPPB, POMT2, LARGE1, FKRP, FKTN, POMGNT1, POMT1
PS236670MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE AClinVar, OMIM, HUMSAVAR link to OMIM 14GMPPB, POMT2, LARGE1, FKRP, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, POMGNT2, ISPD, DAG1, POMGNT1, POMK

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Annotation of the gene POMGNT1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Other types of O-glycan biosynthesishsa005147.72
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
protein bindingGO:00055150.46
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activityGO:00472238.64
bindingGO:00054880.18
transferase activity, transferring glycosyl groupsGO:00167574.08
transferase activity, transferring hexosyl groupsGO:00167584.43
acetylglucosaminyltransferase activityGO:00083755.85
UDP-glycosyltransferase activityGO:00081944.81