POMGNT1

Name	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Structure
Interactors	14 interactors: BRCA1 CD74 CISD2 CXCL8 CXorf66 ERGIC3 GOLPH3 GOLPH3L LNX1 MBD1 RXYLT1 SOX6 TMEM237 ZBTB18
GO Annotations	Cellular Component	Golgi Membrane Golgi Apparatus Membrane
	Molecular Function	Protein Binding Acetylglucosaminyltransferase Activity Transferase Activity Glycosyltransferase Activity Manganese Ion Binding Carbohydrate Binding Metal Ion Binding Beta-1,3-galactosyl-O-glycosyl-glycoprotein Beta-1,3-N-acetylglucosaminyltransferase Activity
	Biological Process	Protein Glycosylation Protein O-linked Glycosylation Brain Development Sensory Perception Of Sound Gene Expression Protein O-linked Glycosylation Via N-acetyl-galactosamine Dentate Gyrus Development Protein O-linked Glycosylation Via Mannose Protein Modification Process Myelination Localization Of Cell Basement Membrane Organization Reactive Gliosis
Pathways	Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 DAG1 core M2 glycosylations DAG1 core M1 glycosylations Matriglycan biosynthesis on DAG1
Diseases	Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D) Limb-girdle muscular dystrophy (LGMD) Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
GWAS	Body mass index ( 26426971 )
Entrez ID	55624
HPRD ID	09493
Ensembl ID	ENSG00000085998
Uniprot IDs	A0A8I5KNB7 B7Z7F2 B7Z7Q4 Q8WZA1
PDB IDs	5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC
GO Terms Enriched among Interactors ?	Golgi Vesicle Budding Cargo Adaptor Activity Protein Targeting To Golgi Apparatus Retrograde Vesicle-mediated Transport, Golgi To Endoplasmic Reticulum Golgi Cisterna Golgi Membrane Positive Regulation Of Neutrophil Chemotaxis Positive Regulation Of Granulocyte Chemotaxis Phosphatidylinositol-4-phosphate Binding Positive Regulation Of Neutrophil Migration Regulation Of Neutrophil Chemotaxis Vesicle Budding From Membrane Golgi To Plasma Membrane Protein Transport Regulation Of Neutrophil Migration Regulation Of Fatty Acid Biosynthetic Process MHC Class II Protein Binding, Via Antigen Binding Groove NOS2-CD74 Complex Macrophage Migration Inhibitory Factor Signaling Pathway Regulation Of Granulocyte Chemotaxis Ribitol Beta-1,4-xylosyltransferase Activity Positive Regulation Of Protein Transport Establishment Of Protein Localization To Plasma Membrane Golgi To Plasma Membrane Transport Histone H2AK127 Ubiquitin Ligase Activity Histone H2AK129 Ubiquitin Ligase Activity BRCA1-BARD1 Complex Macrophage Migration Inhibitory Factor Binding Positive Regulation Of Macrophage Migration Inhibitory Factor Signaling Pathway Macrophage Migration Inhibitory Factor Receptor Complex Interleukin-8 Receptor Binding Retrograde Transporter Complex, Golgi To ER Golgi Vesicle Transport Golgi Cisterna Membrane Asymmetric Golgi Ribbon Formation Positive Regulation Of Establishment Of Protein Localization