Property Summary

NCBI Gene PubMed Count 11
PubMed Score 23.47
PubTator Score 18.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (21)

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

Synonym

Accession Q9H8P0 Q4W5Q6
Symbols CDG1P
CDG1Q
KRIZI
SRD5A2L
SRD5A2L1

Gene

Gene RIF (6)

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.

AA Sequence

MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEPSRPAACRAFD      1 - 70
VPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQFQGGELALSAFLVLVFLWLHS     71 - 140
LRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQVPMDGRNAYITGKNLLMQARWFHILGMMMF    141 - 210
IWSSAHQYKCHVILGNLRKNKAGVVIHCNHRIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLV    211 - 280
VTNVFFNQALSAFLSHQFYKSKFVSYPKHRKAFLPFLF                                    281 - 318
//

Text Mined References (13)

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.
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