POMT1

Description		protein O-mannosyltransferase 1
Image		No pdb structure
GO Annotations	Cellular Component	Acrosomal Vesicle Endoplasmic Reticulum Endoplasmic Reticulum Membrane Membrane Sarcoplasmic Reticulum Dolichyl-phosphate-mannose-protein Mannosyltransferase Complex
	Molecular Function	Mannosyltransferase Activity Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Protein Binding Transferase Activity Glycosyltransferase Activity Metal Ion Binding
	Biological Process	Protein Glycosylation Protein O-linked Glycosylation Extracellular Matrix Organization Protein O-linked Glycosylation Via Mannose
Pathways		Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 DAG1 core M2 glycosylations DAG1 core M3 glycosylations DAG1 core M1 glycosylations Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
Drugs
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
Novel Interacting Genes		1 novel interacting genes: NUP214
Interacting Genes		2 interacting genes: MEOX2 POMT2
Entrez ID		10585
HPRD ID		06305
Ensembl ID		ENSG00000130714
Uniprot IDs		A0A140VKE0 A0A7I2V2K0 A0A7I2V445 B4DTW4 Q5JT02 Q9Y6A1
PDB IDs
Enriched GO Terms of Interacting Partners?		Cytoplasmic Side Of Nuclear Pore Somite Specification Reactive Gliosis Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Segment Specification Somite Development Nuclear Export Signal Receptor Activity Protein O-linked Glycosylation Via Mannose Neuroinflammatory Response Mannosyltransferase Activity Structural Constituent Of Nuclear Pore Nuclear Localization Sequence Binding
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