Tbio | Protein O-mannosyl-transferase 1 |
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Comments
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | 7 | 0.0 | 0.0 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | 1 | 0.0 | 0.0 |
Walker-Warburg syndrome | 20 | 0.0 | 5.0 |
Disease | Target Count | P-value |
---|---|---|
malignant mesothelioma | 3232 | 4.9e-06 |
osteosarcoma | 7950 | 9.4e-04 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Lissencephaly | 69 | 5.396 | 2.7 |
Congenital muscular dystrophy | 29 | 0.0 | 4.0 |
limb-girdle muscular dystrophy | 37 | 0.0 | 4.0 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Microcephaly | 166 | 3.163 | 1.6 |
Disease | log2 FC | p |
---|---|---|
malignant mesothelioma | -1.100 | 4.9e-06 |
osteosarcoma | -1.308 | 9.4e-04 |
Species | Source | Disease |
---|---|---|
OMA EggNOG | ||
OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA | ||
Inparanoid OMA EggNOG |
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGH 1 - 70 MVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLM 71 - 140 LIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFT 141 - 210 YVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLF 211 - 280 FYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPM 281 - 350 IYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP 351 - 420 LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQ 421 - 490 LEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDD 491 - 560 SEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQ 561 - 630 DAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSA 631 - 700 LVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH 701 - 747 //