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POMT2 and POMT1
Data Source:
HPRD
(in vitro, in vivo)
POMT2
POMT1
Description
protein O-mannosyltransferase 2
protein O-mannosyltransferase 1
Image
No pdb structure
No pdb structure
GO Annotations
Cellular Component
Nucleoplasm
Nucleolus
Endoplasmic Reticulum Membrane
Cytosol
Integral Component Of Membrane
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
Mannosyltransferase Activity
Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity
Metal Ion Binding
Biological Process
Protein O-linked Glycosylation
Protein O-linked Mannosylation
ER-associated Misfolded Protein Catabolic Process
Positive Regulation Of Protein O-linked Glycosylation
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
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)
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
3 interacting genes:
GLP1R
LINC00839
POMT1
2 interacting genes:
MEOX2
POMT2
Entrez ID
29954
10585
HPRD ID
09592
06305
Ensembl ID
ENSG00000009830
ENSG00000130714
Uniprot IDs
Q9UKY4
A0A140VKE0
Q9Y6A1
PDB IDs
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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