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  5. Steroidogenic factor 1

Tchem Steroidogenic factor 1

Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

Ligand Count 6
NCBI Gene PubMed Count 212
PubMed Score 877.01
PubTator Score 465.08

Knowledge Summary

Patent (63,724)

TINX Plot

  Disease (5)

Disease Target Count
Cryptorchidism 296
Male infertility 206
46,XY Sex Reversal 3 1
Abnormal sex determination 11
Abnormality of the labia 9
Abnormality of the scrotum 9
Adrenal gland hypofunction 9
Ambiguous Genitalia 24
Aplasia/Hypoplasia of the breasts 10
Aplasia/hypoplasia of the uterus 4
Autosomal recessive predisposition 1442
Azoospermia 110
Congenital hypoplasia of penis 176
Decreased fertility 33
Decreased fertility in females 20
Decreased testosterone in males 28
Delayed Puberty 97
Delayed bone age 136
Elevated follicle stimulating hormone 15
Elevated gonadotropins 15
Elevated luteinizing hormone 14
Female external genitalia in males 13
Generalized osteopenia 99
Gonadal Dysgenesis 28
Gonadal Dysgenesis, Mixed 19
Gynecomastia 64
Hypertrophy of clitoris 40
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of vagina 14
Low serum estradiol levels 22
Male Pseudohermaphroditism 19
Non-obstructive azoospermia 21
Obstructive azoospermia 5
Osteopenia 99
Osteoporosis 363
Osteoporosis of vertebrae 5
Ovarian Failure, Premature 9
PREMATURE OVARIAN FAILURE 7 (disorder) 1
Penile hypospadias 106
Polycystic ovary syndrome 360
Premature Menopause 31
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Pure Gonadal Dysgenesis, 46, XX 5
Pure gonadal dysgenesis 19
Rudimentary vagina 14
Sclerocystic Ovaries 17
Sex reversal 10
Small testicle 75
Sparse axillary hair 28
Sparse pubic hair 31
Streak ovary 15
Streaky metaphyseal sclerosis 2
Swyer Syndrome 8
Testicular dysgenesis 9
Testicular regression syndrome 9
Urogenital sinus anomaly 15
ovarian neoplasm 99
Disease Target Count P-value
psoriasis 6694 1.6e-04

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.400 1.6e-04

Synonym

Accession Q13285 O15196 Q5T6F5 SF-1
Symbols ELP
SF1
FTZ1
POF7
SF-1
AD4BP
FTZF1
SPGF8
SRXX4
SRXY3
hSF-1

Gene

NR5A1

PANTHER Protein Class (3)

PDB

1ZDT   4QJR   4QK4   1YOW  

  Ortholog (1)

Species Source Disease
Macaque OMA EggNOG Inparanoid

 UniProt Keyword (20)

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 GO Function (12)

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 GO Component (3)

 GO Process (21)

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 Compartment GO Term (30)

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 OMIM Phenotype (5)

 MGI Phenotype (11)

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 GWAS Trait (1)

 HCA RNA Cell Line (35)

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Pathway (10)

Ligand (6)

Structure of CHEMBL385911

CHEMBL385911
pEC50 7.27

Structure of CHEMBL384153

CHEMBL384153
pEC50 7.37

Structure of CHEMBL425623

CHEMBL425623
pEC50 7.52

Structure of CHEMBL214414

CHEMBL214414
pEC50 7.85

Structure of CHEMBL216179

CHEMBL216179
pEC50 7.96

Structure of CHEMBL384424

CHEMBL384424
pEC50 8.00

Gene RIF (168)

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 (219)

PMID Year Title