Cloned (Comment) | Organism |
---|---|
expressed in HEK-293T cells | Homo sapiens |
transfection of expression plasmids with wild-type and mutant enzyme variants into HEK-293T cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | single site mutations defective in potential glycosylation sites do not change enzyme activity, mutaions of all such sites cause a loss of enzyme activity, probably due to decreased hydrophilicity | Homo sapiens |
additional information | single site mutations defective in potential glycosylation sites do not change enzyme activity, mutations of all such sites cause a loss of enzyme activity, probably du to decreased hydrophilicity | Homo sapiens |
additional information | mutations of all N-glycosylation sites of either isoform POMT1 or POMT2 cause a loss of enzyme activity | Homo sapiens |
N16Q | not smaller than wild-type, may be too close to membrane for a glycosylation site, single mutation with about 70% of wild-type activity | Homo sapiens |
N16Q | the mutant shows a lower enzymatic activity to about 70% of wild type | Homo sapiens |
N16Q/N435Q/N471Q/N539Q | together with POMT2 mutant N98Q/N330Q/N445Q/N528Q/N583Q, significantly lower activity than double wild-type, a lack of glycosylation prevents solubilization | Homo sapiens |
N16Q/N435Q/N471Q/N539Q | together with wild-type POMT2, significantly lower activity than double wild-type, a lack of glycosylation prevents solubilization | Homo sapiens |
N330Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with no effect on activity | Homo sapiens |
N435Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with about 70% of wild-type activity | Homo sapiens |
N435Q | the mutant shows about wild type activity | Homo sapiens |
N435Q | the mutant shows a lower enzymatic activity to about 70% of wild type | Homo sapiens |
N445Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with no effect on activity | Homo sapiens |
N445Q | the mutant shows about wild type activity | Homo sapiens |
N471Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with about 70% of wild-type activity | Homo sapiens |
N471Q | the mutant shows a lower enzymatic activity to about 70% of wild type | Homo sapiens |
N528Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with no effect on activity | Homo sapiens |
N528Q | the mutant shows about wild type activity | Homo sapiens |
N539Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with no effect on activity | Homo sapiens |
N539Q | the mutant shows about wild type activity | Homo sapiens |
N583Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with no effect on activity | Homo sapiens |
N583Q | the mutant shows about wild type activity | Homo sapiens |
N98Q | 2-3 kDa smaller than wild-type corresponding to single N-glycan chain, single mutation with about 50% of wild-type activity | Homo sapiens |
N98Q | the mutant shows a lower enzymatic activity to about 50% of wild type | Homo sapiens |
N98Q/N330Q/N445Q/N528Q/N583Q | together with POMT1 mutant N16Q/N435Q/N471Q/N539Q, significantly lower activity than double wild-type, a lack of glycosylation prevents solubilization | Homo sapiens |
N98Q/N330Q/N445Q/N528Q/N583Q | together with wild-type POMT1, significantly lower activity than double wild-type, a lack of glycosylation prevents solubilization | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
endoplasmic reticulum | - |
Homo sapiens | 5783 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
70000 | - |
x * 70000, SDS-PAGE | Homo sapiens |
73000 | - |
rough estimate from SDS-PAGE figure, fully glycosylated enzyme, 2-3 kDa lower than wild-type corresponds to lack of a single N-glycan chain | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Posttranslational Modification | Comment | Organism |
---|---|---|
glycoprotein | POMT1, 3 of 4 potential glycosylation sites, inhibition of glycosylation with tunicamycin inactivates enzyme, mutation of all sites prevents solubilization of the enzyme | Homo sapiens |
glycoprotein | POMT2, all of 5 potential glycosylation sites, inhibition of glycosylation with tunicamycin inactivates enzyme, mutation of all sites prevents solubilization of the enzyme | Homo sapiens |
glycoprotein | three of the four POMT1 sites (Asn435, Asn471 and Asn539) and all five of the POMT2 N-glycosylation sites (Asn98, Asn330, Asn445, Asn528 and Asn583) are N-glycosylated | Homo sapiens |
Purification (Comment) | Organism |
---|---|
glutathione-Sepharose 4B bead chromatography | Homo sapiens |
isolation of microsome fraction: cells are homogenized in 10 mM Tris-HCl, pH 7.4, EDTA, sucrose, DTT, protease inhibitors, centrifugation, supernatant ultracentrifuged, precipitate used as microsomal fraction, solubilized in 20 mM Tris-HCl, pH 8.0, 2-mercaptoethanol, EDTA, n-octyl-beta-D-thioglucoside, centrifugation, supernatant used as solubilized microsome preparation, separation with SDS-PAGE and antibody staining | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
HEK-293T cell | human embryonic kidney | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
dolichyl phosphate D-mannose + glutathione-S-transferase fusion alpha-dystroglycan | tritium-labeled sugar donor, 20 mM Tris-HCl, pH 8.0, 2-mercaptoethanol, EDTA, n-octyl-beta-D-thiogucoside, 22°C | Homo sapiens | dolichyl phosphate + O-D-mannosyl-[alpha-dystroglycan] | - |
? | |
dolichyl phosphate D-mannose + glutathione-S-transferase fusion alpha-dystroglycan | - |
Homo sapiens | dolichyl phosphate + O-D-mannosyl-glutathione-S-transferase fusion alpha-dystroglycan | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 70000, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
POMT1 | - |
Homo sapiens |
POMT1 | isoform | Homo sapiens |
POMT2 | - |
Homo sapiens |
POMT2 | isoform | Homo sapiens |
protein O-mannosyltransferase | - |
Homo sapiens |
protein O-mannosyltransferase 1 | - |
Homo sapiens |
protein O-mannosyltransferase 2 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutation in either one of the complex forming enzymes can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration | Homo sapiens |
metabolism | a complex of protein O-mannosyltransferase 1 and 2 catalyzes the initial step of O-mannosyl glycan biosynthesis | Homo sapiens |
metabolism | isoforms POMT1 and POMT2 catalyze the initial step of O-mannosyl glycan biosynthesis | Homo sapiens |