POMGNT1

Description		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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GO Annotations	Cellular Component	Golgi Membrane Integral Component Of Membrane Integral Component Of Golgi Membrane
	Molecular Function	Protein Binding Acetylglucosaminyltransferase Activity Manganese Ion Binding Beta-1,3-galactosyl-O-glycosyl-glycoprotein Beta-1,3-N-acetylglucosaminyltransferase Activity
	Biological Process	Protein O-linked Glycosylation O-glycan Processing
Pathways		Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 O-linked glycosylation
Drugs
Diseases		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 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)
GWAS		Body mass index ( 26426971)
Interacting Genes		5 interacting genes: BRCA1 CXCL8 LNX1 SOX6 ZBTB18
Entrez ID		55624
HPRD ID		09493
Ensembl ID		ENSG00000085998
Uniprot IDs		B7Z7F2 B7Z7Q4 Q8WZA1
PDB IDs		5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC
Enriched GO Terms of Interacting Partners?
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