POMT1

Description		protein O-mannosyltransferase 1
Image		No pdb structure
GO Annotations	Cellular Component	Acrosomal Vesicle Endoplasmic Reticulum Endoplasmic Reticulum Membrane Integral Component Of Membrane Sarcoplasmic Reticulum
	Molecular Function	Mannosyltransferase Activity Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Metal Ion Binding
	Biological Process	Carbohydrate Metabolic Process Protein O-linked Glycosylation Multicellular Organism Development Extracellular Matrix Organization Protein O-linked Mannosylation Positive Regulation Of Protein O-linked Glycosylation
Pathways		Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 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
Interacting Genes		2 interacting genes: NUP214 POMT2
Entrez ID		10585
HPRD ID		06305
Ensembl ID		ENSG00000130714
Uniprot IDs		A0A140VKE0 Q9Y6A1
PDB IDs
Enriched GO Terms of Interacting Partners?
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