Property Summary

NCBI Gene PubMed Count 200
Grant Count 260
R01 Count 170
Funding $22,744,754.16
PubMed Score 831.61
PubTator Score 465.08

Knowledge Summary

Patent (63,724)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.400 0.000

Synonym

Accession Q13285 O15196 Q5T6F5 SF-1
Symbols ELP
SF1
FTZ1
POF7
SF-1
AD4BP
FTZF1
SPGF8
SRXY3
hSF-1

Gene

PDB

1ZDT   4QJR   4QK4   1YOW  

MLP Assay (14)

AID Type Active / Inconclusive / Inactive Description
522 screening 1225 / 0 / 63700 Primary Cell-based High Throughput Screening assay for activators of the nuclear receptor Steroidogenic Factor 1 (SF-1)
525 screening 359 / 0 / 64566 Primary Cell-based High Throughput Screening assay for inhibitors of the nuclear receptor Steroidogenic Factor 1 (SF-1)
600 confirmatory 213 / 0 / 146 Dose-response cell-based assay for inhibitors of the nuclear receptor Steroidogenic Factor 1 (SF-1)
611 confirmatory 195 / 0 / 78 Counterscreen for inhibitors of the Retinoic Acid Receptor-related orphan receptor A (RORA): A cell-based dose-response assay for inhibition of the Steroidogenic Factor 1 (SF-1)
692 confirmatory 75 / 0 / 32 Dose-response cell-based assay for activators of the nuclear receptor Steroidogenic Factor 1 (SF-1)
695 confirmatory 45 / 0 / 18 Counterscreen for activators of the Retinoic Acid Receptor-related orphan receptor A (RORA): A cell-based dose-response assay for inhibition of the Steroidogenic Factor 1 (SF-1)
1951 summary 0 / 0 / 6 Summary of probe development efforts to identify activators of the nuclear receptor Steroidogenic Factor 1 (SF-1).
2277 screening 14 / 0 / 0 Center Based Initiative to identify novel modulators of the Retinoic acid receptor-related Orphan Receptors (ROR): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors.
504934 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify inverse agonists of the liver receptor homolog-1 (LRH-1; NR5A2): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors
651614 screening 1836 / 0 / 506 Counterscreen for inverse agonists of the liver receptor homolog-1 (LRH-1; NR5A2): Luminescence-based cell-based high throughput assay to identify inverse agonists of the Steroidogenic Factor 1 Nuclear Receptor (SF1; NR5A1)
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Gene RIF (158)

PMID Text
26406169 this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method.
26200099 Describe microcystic stromal tumor as a distinctive ovarian sex cord-stromal neoplasm characterized by FOXL2, SF-1, WT-1, Cyclin D1, and beta-catenin nuclear expression and CTNNB1 mutations.
26139438 genetic defects of NR5A1 should be considered as an etiology in subjects with 46,XY DSD without adrenal insufficiency.
25989977 Mutations in NR5A1 were associated with male factor infertility, especially when associated with history of cryptorchidism.
25985323 DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.
25896302 These findings demonstrate that in vitro LRH-1 can act like SF-1 and compensate for its deficiency.
25604140 Aberrant SF-1 expression was significantly higher in ovarian sex cord stromal tumors than that of ovarian cancer.
25502990 a pair of male siblings with hypospadias and their father carrying a novel heterozygous mutation c.910G>A, p.E304K in NR5A1 gene; asymptomatic father, preserved fertility, also carried p.E304K; findings revealed that mutation retained partial activity which may result in asymptomatic 46,XY male phenotype with preserved fertility
25288771 analysis of how signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1
25283508 SF1 SNPs are associated with serum uric acid levels in Chinese males and females.
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AA Sequence

MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRF      1 - 70
QKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVL     71 - 140
PPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLP    141 - 210
YGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWA    211 - 280
RRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLR    281 - 350
AQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL    351 - 420
LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT                                 421 - 461
//

Text Mined References (205)

PMID Year Title
26406169 2016 Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.
26200099 2015 Microcystic Stromal Tumor: A Distinctive Ovarian Sex Cord-Stromal Neoplasm Characterized by FOXL2, SF-1, WT-1, Cyclin D1, and ?-catenin Nuclear Expression and CTNNB1 Mutations.
26139438 2015 Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
25989977 2015 Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.
25985323 2015 DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
25896302 2015 LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study.
25604140 2015 Clinicopathological significance of steroidogenic factor-1 expression in ovarian cancer versus ovarian sex cord stromal tumor.
25502990 2015 Fertility preservation in a family with a novel NR5A1 mutation.
25416956 2014 A proteome-scale map of the human interactome network.
25288771 2014 The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1.
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