| Tchem | 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 |
|---|---|
| Kahrizi syndrome | 1 |
| Congenital Disorder of Glycosylation, Type Iq | 1 |
| Disease | Target Count |
|---|---|
| Congenital disorder of glycosylation 1Q | 1 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | -2.100 | 0.006 |
| ependymoma | -2.000 | 0.019 |
| oligodendroglioma | -1.400 | 0.047 |
| psoriasis | 1.600 | 0.000 |
| medulloblastoma, large-cell | 1.100 | 0.006 |
| tuberculosis | 1.400 | 0.000 |
| non-small cell lung cancer | 1.247 | 0.000 |
| intraductal papillary-mucinous carcinoma... | 1.200 | 0.046 |
| intraductal papillary-mucinous neoplasm ... | 2.000 | 0.006 |
| ulcerative colitis | 2.600 | 0.001 |
| pancreatic cancer | 1.200 | 0.001 |
| group 4 medulloblastoma | -1.300 | 0.000 |
| lung adenocarcinoma | 1.300 | 0.000 |
| nasopharyngeal carcinoma | -1.400 | 0.000 |
| breast carcinoma | 1.400 | 0.000 |
| Breast cancer | 1.400 | 0.000 |
| ductal carcinoma in situ | 1.900 | 0.005 |
| invasive ductal carcinoma | 1.500 | 0.007 |
| acute myeloid leukemia | -1.500 | 0.014 |
| ovarian cancer | 2.300 | 0.000 |
| chronic rhinosinusitis | 1.127 | 0.040 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA EggNOG |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG |
| Chicken | OMA EggNOG |
| Anole lizard | OMA Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| C. elegans | OMA EggNOG Inparanoid |
| Fruitfly | OMA EggNOG Inparanoid |
| S.cerevisiae | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 24433453 | the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG |
| 21704348 | Findings suggest that overexpression of 5alpha-reductase, through a higher inactivation of cortisol in the liver, could have a protective role in preserving hepatic sensitivity to insulin. |
| 20852264 | A novel syndrome is identified in families with cerebellar ataxia and congenital eye malformations due to steroid 5 alpha-reductase type 3 disorders of glycosylation. |
| 20700148 | Next generation sequencing identified a homozygous frameshift mutation (c.203dupC; p.Phe69LeufsX2) SRD5A3 as the disease-causing change in Kahrizi syndrome. |
| 20637498 | Study of a large consanguineous Emirati family showed that loss of function mutations of the SRD5A3 gene cause a multisystemic syndrome with eye malformations, cerebellar vermis hypoplasia, and psychomotor delay. |
| 17986282 | Findings indicate that a novel type 3 5 alpha-steroid reductase, SRD5A3, is associated with DHT production and maintenance of androgen-androgen receptor-pathway activation in prostate cancer. |
MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEPSRPAACRAFD 1 - 70 VPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQFQGGELALSAFLVLVFLWLHS 71 - 140 LRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQVPMDGRNAYITGKNLLMQARWFHILGMMMF 141 - 210 IWSSAHQYKCHVILGNLRKNKAGVVIHCNHRIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLV 211 - 280 VTNVFFNQALSAFLSHQFYKSKFVSYPKHRKAFLPFLF 281 - 318 //
| PMID | Year | Title |
|---|---|---|
| 24433453 | 2014 | Adult phenotype and further phenotypic variability in SRD5A3-CDG. |
| 22240719 | 2012 | SRD5A3-CDG: a patient with a novel mutation. |
| 21704348 | 2011 | Overexpression of hepatic 5?-reductase and 11?-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients. |
| 20852264 | 2010 | A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. |
| 20700148 | 2011 | Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. |
| 20637498 | 2010 | SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. |
| 17986282 | 2008 | Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer. |
| 17207965 | 2007 | hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. |
| 15815621 | 2005 | Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |
| 15583024 | 2004 | Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones. |
| More... |
