| Tbio | Polyprenol reductase |
Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).
The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Kahrizi syndrome | 1 | 5.698 | 2.8 |
| Congenital Disorder of Glycosylation, Type Iq | 1 | 0.0 | 0.0 |
| Creutzfeldt-Jakob Syndrome | 10 | 0.0 | 0.0 |
| Intellectual disability | 1016 | 0.0 | 4.0 |
| Disease | Target Count | P-value |
|---|---|---|
| breast carcinoma | 1638 | 2.5e-30 |
| non-small cell lung cancer | 2890 | 2.3e-09 |
| tuberculosis | 2010 | 1.6e-07 |
| Breast cancer | 3578 | 5.7e-07 |
| ovarian cancer | 8520 | 2.6e-06 |
| lung adenocarcinoma | 2716 | 2.7e-05 |
| group 4 medulloblastoma | 1855 | 2.1e-04 |
| pancreatic cancer | 2398 | 2.7e-03 |
| psoriasis | 6694 | 3.6e-03 |
| ductal carcinoma in situ | 1745 | 4.8e-03 |
| nasopharyngeal carcinoma | 1058 | 5.1e-03 |
| medulloblastoma, large-cell | 6241 | 6.3e-03 |
| invasive ductal carcinoma | 2951 | 7.0e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 7.1e-03 |
| astrocytic glioma | 2597 | 1.0e-02 |
| acute myeloid leukemia | 783 | 1.4e-02 |
| ependymoma | 4679 | 1.9e-02 |
| active ulcerative colitis | 764 | 3.6e-02 |
| chronic rhinosinusitis | 512 | 4.0e-02 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 4.6e-02 |
| oligodendroglioma | 2850 | 4.7e-02 |
| Disease | log2 FC | p |
|---|---|---|
| active ulcerative colitis | 1.207 | 3.6e-02 |
| acute myeloid leukemia | -1.500 | 1.4e-02 |
| astrocytic glioma | -1.100 | 1.0e-02 |
| Breast cancer | 1.400 | 5.7e-07 |
| breast carcinoma | 1.400 | 2.5e-30 |
| chronic rhinosinusitis | 1.127 | 4.0e-02 |
| ductal carcinoma in situ | 1.900 | 4.8e-03 |
| ependymoma | -2.000 | 1.9e-02 |
| group 4 medulloblastoma | -1.300 | 2.1e-04 |
| intraductal papillary-mucinous carcinoma... | 1.200 | 4.6e-02 |
| intraductal papillary-mucinous neoplasm ... | 1.500 | 7.1e-03 |
| invasive ductal carcinoma | 1.500 | 7.0e-03 |
| lung adenocarcinoma | 1.300 | 2.7e-05 |
| medulloblastoma, large-cell | 1.100 | 6.3e-03 |
| nasopharyngeal carcinoma | -1.100 | 5.1e-03 |
| non-small cell lung cancer | 1.247 | 2.3e-09 |
| oligodendroglioma | -1.400 | 4.7e-02 |
| ovarian cancer | 2.300 | 2.6e-06 |
| pancreatic cancer | 1.100 | 2.7e-03 |
| psoriasis | 1.200 | 3.6e-03 |
| tuberculosis | 1.400 | 1.6e-07 |
MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEPSRPAACRAFD 1 - 70 VPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQFQGGELALSAFLVLVFLWLHS 71 - 140 LRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQVPMDGRNAYITGKNLLMQARWFHILGMMMF 141 - 210 IWSSAHQYKCHVILGNLRKNKAGVVIHCNHRIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLV 211 - 280 VTNVFFNQALSAFLSHQFYKSKFVSYPKHRKAFLPFLF 281 - 318 //
