Nomenclature: Steroidogenic factor 1

Systematic Nomenclature: NR5A1

Family: 5A. Fushi tarazu F1-like receptors

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 

Contents

Gene and Protein Information
Species AA Chromosomal Location Gene Symbol Gene Name Reference
Human 461 9q33 NR5A1 nuclear receptor subfamily 5, group A, member 1 35
Mouse 462 2 23.5 cM Nr5a1 nuclear receptor subfamily 5, group A, member 1 12
Rat 539 3q11 Nr5a1 nuclear receptor subfamily 5, group A, member 1 21
Previous and Unofficial Names
FTZ1
SF-1
ELP
AD4BP
SF1
adrenal 4-binding protein
steroid hormone receptor Ad4BP
Fushi tarazu factor homologue 1
FTZF1
Ad4BP/SF-1
STF-1
fushi tarazu factor homolog 1
Ftz-F1
Database Links
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
NURSA Receptor
OMIM
Orphanet Gene
PharmGKB Gene
PhosphoSitePlus
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniProtKB
Wikipedia
Selected 3D Structures
Image of receptor 3D structure from RCSB PDB
Description:  SF-1 Ligand Binding Domain
PDB Id:  1YMT
Resolution:  1.2Å
Species:  Mouse
References:  18
Natural/Endogenous Ligands
Comments: Orphan
DNA Binding
Structure:  Monomer
HRE core sequence:  YCA AGG YCR
Response element:  Half site
DNA Binding Comments
YCA AGG YCR binding element is also known as the steroidogenic factor binding element (SFRE).
Co-binding Partners
Name Interaction Effect Reference
DAX1 Physical, Functional DAX1 inhibits SF-1 transcriptional activation and blocks SF-1:WT-1 interaction and thereby the WT-1/SF1 synergism. 15,24
WT1 Physical, Functional WT1 (Wilms Tumor Gene)-KTS isoforms associate and synergize with SF-1 to promote SF-& transcriptional activity. Interestingly, WT1 missense mutations, associated with male pseudo-hermaphroditism in Denys-Drash syndrome, fail to synergize with SF-1. 24
GATA-4 Physical, Functional GATA-4/SF-1 synergize as a result of a direct protein-protein interaction mediated through the zinc finger region of GATA-4. Remarkably, synergy between GATA-4 and SF-1 on a variety of different SF-1 targets did not absolutely require GATA binding to DNA. 33
Ptx1 Physical, Functional The interaction between the C-terminus of Ptx1 and the N-terminal half of SF-1 results in SF-1 transcriptional activity enhancement. 32
SOX9 Physical, Functional SOX9 and SF-1 interact directly via the SOX9 DNA-binding domain and the SF-1 C-terminal region, respectively. This interaction results in the enhancement of SF-1 transcriptional activity. 9
Main Co-regulators
Name Activity Specific Ligand dependent AF-2 dependent Comments References
CREBBP Co-activator No No Yes 23
NCOA2 Co-activator No Yes Yes Three studies proposed that phospholipid may be bona fide ligand for the SF-1 receptor, but ligand occupancy does not alter the structure of critical residues within the AF2 cleft. 10,19
NCOA1 Co-activator No No Yes 7
EDF1 Co-activator No No Yes 17
NCOR2 Co-repressor No No No 10
PNRC2 Co-activator No No Yes Using the yeast two-hybrid assay, the region amino acids 85-139 of PNRC2 was found to be responsible for the interaction with nuclear receptors. This region contains an SH3 domain-binding motif (SEPPSPS) and an NR box-like sequence (LKTLL). A mutagenesis study has shown that the SH3 domain-binding motif is important for PNRC2 to interact with nuclear receptors 36
Main Target Genes
Name Species Effect Technique Comments References
CYP17A1 Human Activated Transient transfection, EMSA, Other 2,16
CYP11A1 Human Activated Transient transfection, EMSA, Other Evidence indicates that this is also true for the mouse and rat 11,31
MC2R Human Activated Transient transfection, EMSA 22,25-26
Vann1 Mouse Activated Transient transfection, EMSA, Footprint 34
Tissue Distribution
Embryonic carcinoma cells, urogenital ridge, early adrenal cortex, Sertoli and Leydig cells, neuroendocrine system (pituitary, ventromedial hypothalamic nucleus), spleen, eutopic endometrioctic tissue, adrenals and gonads.
Species:  Human
Technique:  Northern, Q-PCR, in situ, Western, immunohistology, other
References:  13-14,29
Tissue Distribution Comments
The mouse SF-1 gene generate two isoforms, ELP and SF-1 that have different expression patterns. ELP was shown to be expressed in embryonic carcinoma cells and to be down-regulated during their differentiation. In mouse ELP was not found from E8 to adult suggesting it is only expressed in early embryos. In contrast SF-1 was expressed from E9 in the urogenital ridge, in somatic cells that are both steroidogenc and non-steroidogenic. In addition SF-1 is found in the adrenal cortex early, but is not found in the adrenal medulla. Interestingly, sexually dimorphic expression of SF-1 is detected. When testicular cords are forming in males a strong and diffuse SF-1 expression can be observed. SF-1 is expressed in both the Sertoli and Leydig cells. In contrast in the ovary SF-1 transcripts disappear between E13.5 to E16.5 and then reappear during late development (E18) with expression increasing post-natally. These data have led to the suggestion that in addition to a role in steroidogenesis SF-1 was playing a role in male sexual differentiation. In the neuroendocrine system, expression of SF-1 is noted in the pituitary as well as in the ventromedial hypothalamic nucleus. In the pituitary expression is restreicted to the gonadotrope cells. Isolated reports have noted expression in the spleen and in human eutopic endometrioctic tissue. In human transcripts at 3.5-4 kb were observed in the adrenals and gonads as well as transcripts at 4.4 kb and 8 kb. An expression of human SF-1 in Sertoli cells as well as in steroidogenic Leydig cells was observed, similar to the mouse pattern.
Functional Assays
Overexpression of SF-1 in embryonic carcinoma cells results in steroidogenesis.
Species:  Mouse
Tissue:  Cell lines
Response measured:  Progesterone production
References:  8
Physiological Consequences of Altering Gene Expression
Knock-out mice: Analyses of these confirmed essential roles of SF-1 at all three levels of the hypothalamic-pituitary-steroidogenic organ axis. Most striking, these SF-1 knockout mice lack adrenal glands and gonads because of programmed cell death in the primordial organs just as gonadal differentiation normally takes place. SF-1 knock-out mice also exhibit male-to-female sex reversal of the internal and external urogenital tracts. These mice also have impaired expression of a number of markers of gonadotrops the cells in the anterior pituitary that regulate gonadal steroidogenesis, and they lack the ventromedial hypothalamic (VMH) nucleus.
Species:  Mouse
Tissue: 
Technique:  knock out
References:  20,28,30
SF1 +/- mice: Exhibit adrenal insufficiency resulting from profound defects in adrenal development and organization. However, compensatory mechanisms, such as cellular hypertrophy and increased expression of the rate-limiting steroidogenic protein, help to maintain adrenal function at near normal capacity under basal conditions. In contrast, adrenal deficits in SF1 heterozygotes were revealed under stressful conditions, demonstrating that normal gene dosage of SF1 is required for mounting an adequate stress response.
Species:  Mouse
Tissue: 
Technique: 
References:  1,4-5
Phenotypes, Alleles and Disease Models Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001119 abnormal female reproductive system morphology PMID: 11124111 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0000837 abnormal hypothalamus morphology PMID: 8563022 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * FVB
MGI:1346833  MP:0000837 abnormal hypothalamus morphology PMID: 12727442 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * FVB
MGI:1346833  MP:0002184 abnormal innervation PMID: 12727442 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002786 abnormal Leydig cell morphology PMID: 11124111 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001145 abnormal male reproductive system morphology PMID: 11124111 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * FVB
MGI:1346833  MP:0009937 abnormal neuron differentiation PMID: 12727442 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0001928 abnormal ovulation PMID: 15118069 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0000633 abnormal pituitary gland morphology PMID: 8563022 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0002211 abnormal primary sex determination PMID: 8563022 
Nr5a1tm1Jmi Nr5a1tm1Jmi/Nr5a1tm1Jmi
involves: 129X1/SvJ
MGI:1346833  MP:0002211 abnormal primary sex determination PMID: 7479914 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0002211 abnormal primary sex determination PMID: 8187173 
Nr5a1tm3Klp Nr5a1tm3Klp/Nr5a1tm3Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0002160 abnormal reproductive system morphology PMID: 7491115 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0002212 abnormal secondary sex determination PMID: 8563022 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0002216 abnormal seminiferous tubule morphology PMID: 15118069 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0000653 abnormal sex gland morphology PMID: 11416865 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002566 abnormal sexual interaction PMID: 11416865 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0006380 abnormal spermatid morphology PMID: 11124111 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001156 abnormal spermatogenesis PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0006418 abnormal testis cord formation PMID: 15118069 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0003830 abnormal testis development PMID: 15118069 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0005313 absent adrenal gland PMID: 8563022 
Nr5a1tm1Jmi Nr5a1tm1Jmi/Nr5a1tm1Jmi
involves: 129X1/SvJ
MGI:1346833  MP:0005313 absent adrenal gland PMID: 7479914 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0005313 absent adrenal gland PMID: 8187173 
Nr5a1tm2.1Klp Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
involves: 129P2/OlaHsd
MGI:1346833  MP:0005313 absent adrenal gland PMID: 11124111 
Nr5a1tm3Klp Nr5a1tm3Klp/Nr5a1tm3Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0005313 absent adrenal gland PMID: 7491115 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001134 absent corpus luteum PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001134 absent corpus luteum PMID: 11416865 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0001134 absent corpus luteum PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001132 absent mature ovarian follicles PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001132 absent mature ovarian follicles PMID: 11416865 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0003578 absent ovary PMID: 8563022 
Nr5a1tm1Jmi Nr5a1tm1Jmi/Nr5a1tm1Jmi
involves: 129X1/SvJ
MGI:1346833  MP:0003578 absent ovary PMID: 7479914 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0003578 absent ovary PMID: 8187173 
Nr5a1tm3Klp Nr5a1tm3Klp/Nr5a1tm3Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0003578 absent ovary PMID: 7491115 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0003379 absent sexual maturation PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0003379 absent sexual maturation PMID: 11416865 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0003379 absent sexual maturation PMID: 15118069 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0006415 absent testes PMID: 8563022 
Nr5a1tm1Jmi Nr5a1tm1Jmi/Nr5a1tm1Jmi
involves: 129X1/SvJ
MGI:1346833  MP:0006415 absent testes PMID: 7479914 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0006415 absent testes PMID: 8187173 
Nr5a1tm3Klp Nr5a1tm3Klp/Nr5a1tm3Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0006415 absent testes PMID: 7491115 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0005644 agonadal PMID: 8563022 
Nr5a1tm1Jmi Nr5a1tm1Jmi/Nr5a1tm1Jmi
involves: 129X1/SvJ
MGI:1346833  MP:0005644 agonadal PMID: 7479914 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0005644 agonadal PMID: 8187173 
Nr5a1tm2.1Klp Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
involves: 129P2/OlaHsd
MGI:1346833  MP:0005644 agonadal PMID: 11124111 
Nr5a1tm3Klp Nr5a1tm3Klp/Nr5a1tm3Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0005644 agonadal PMID: 7491115 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0008869 anovulation PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0001155 arrest of spermatogenesis PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002286 cryptorchism PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0002286 cryptorchism PMID: 15118069 
Nr5a1tm3Klp Nr5a1tm3Klp/Nr5a1tm3Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0001262 decreased body weight PMID: 7491115 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002790 decreased circulating follicle stimulating hormone level PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002790 decreased circulating follicle stimulating hormone level PMID: 11416865 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002773 decreased circulating luteinizing hormone level PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002773 decreased circulating luteinizing hormone level PMID: 11416865 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0002780 decreased circulating testosterone level PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005130 decreased follicle stimulating hormone level PMID: 11124111 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0008335 decreased gonadotroph cell number PMID: 8563022 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005132 decreased luteinizing hormone level PMID: 11124111 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0004901 decreased male germ cell number PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0002682 decreased mature ovarian follicle number PMID: 15118069 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0004856 decreased ovary weight PMID: 11416865 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0004852 decreased testis weight PMID: 11416865 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0002636 delayed vaginal opening PMID: 11124111 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0009203 external male genitalia hypoplasia PMID: 11124111 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001926 female infertility PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001926 female infertility PMID: 11416865 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0001926 female infertility PMID: 15118069 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001129 impaired ovarian folliculogenesis PMID: 11416865 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0009207 internal male genitalia hypoplasia PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0009207 internal male genitalia hypoplasia PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005536 Leydig cell hypoplasia PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005536 Leydig cell hypoplasia PMID: 11416865 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001925 male infertility PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001925 male infertility PMID: 11416865 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0001925 male infertility PMID: 15118069 
Nr5a1tm2Klp Nr5a1tm2Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:1346833  MP:0002169 no abnormal phenotype detected PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0009444 ovarian follicular cyst PMID: 15118069 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0004834 ovary hemorrhage PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005158 ovary hypoplasia PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0005158 ovary hypoplasia PMID: 15118069 
Nr5a1tm2.1Klp Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
involves: 129P2/OlaHsd
MGI:1346833  MP:0002081 perinatal lethality PMID: 11124111 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0002082 postnatal lethality PMID: 8563022 
Nr5a1tm1Jmi Nr5a1tm1Jmi/Nr5a1tm1Jmi
involves: 129X1/SvJ
MGI:1346833  MP:0002082 postnatal lethality PMID: 7479914 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0002082 postnatal lethality PMID: 7491115  8187173 
Nr5a1tm3Klp Nr5a1tm3Klp/Nr5a1tm3Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0002082 postnatal lethality PMID: 7491115 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0002083 premature death PMID: 7491115 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005147 prostate gland hypoplasia PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005147 prostate gland hypoplasia PMID: 11416865 
Nr5a1tm1Enl Nr5a1tm1Enl/Nr5a1tm1Enl
involves: 129S4/SvJae
MGI:1346833  MP:0001939 secondary sex reversal PMID: 8563022 
Nr5a1tm1Jmi Nr5a1tm1Jmi/Nr5a1tm1Jmi
involves: 129X1/SvJ
MGI:1346833  MP:0001939 secondary sex reversal PMID: 7479914 
Nr5a1tm1Klp Nr5a1tm1Klp/Nr5a1tm1Klp
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
MGI:1346833  MP:0001939 secondary sex reversal PMID: 8187173 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005148 seminal vesicle hypoplasia PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0005148 seminal vesicle hypoplasia PMID: 11416865 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0002768 small adrenal glands PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001116 small gonad PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001116 small gonad PMID: 11416865 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001127 small ovary PMID: 11416865 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001147 small testis PMID: 11416865 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0001147 small testis PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001940 testicular hypoplasia PMID: 11124111 
Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
involves: 129P2/OlaHsd
MGI:105062  MGI:1346833  MP:0001940 testicular hypoplasia PMID: 15118069 
Nr5a1tm2.1Klp|Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2.1Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001121 uterus hypoplasia PMID: 11124111 
Nr5a1tm2Klp|Tg(Cga-cre)3Sac Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL
MGI:1346833  MGI:2180056  MP:0001121 uterus hypoplasia PMID: 11416865 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Adrenocortical insufficiency
OMIM:  184757
Orphanet:  168558
Role: 
References:  3
Click column headers to sort
Type Species Molecular location Description Reference
nonsynonymous point mutation Human arg255-to-leu 3
Disease:  Sex Reversal, XY, with adrenal failure
OMIM:  184757
Orphanet:  168558
Role: 
References:  1
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human gly35-to-glu 1
Missense Human arg92-to-gln 1
Disease:  46,XX gonadal dysgenesis
Orphanet:  243
References: 
Mutations not determined
Disease:  46,XY partial gonadal dysgenesis
Orphanet:  251510
References: 
Mutations not determined
Disease:  Sex Reversal, XY, without adrenal failure
OMIM:  612965
Orphanet:  242
Role: 
Comments: 
References:  6
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift Human 8-bp microdeletion in LBD 6
Disease:  Premature ovarian failure 7
OMIM:  612964
Orphanet:  619
References: 
Mutations not determined
Disease:  Spermatogenic failure 8
OMIM:  613957
References: 
Mutations not determined
Biologically Significant Variants
Type:  Alternative promoters and splicing
Species:  Mouse
Description:  ELP1:- Differs from SF-1 in its N- and C-terminal domains, due to alternative promoter usage and alternative splicing
References:  27
Type:  Alternative promoters and splicing
Species:  Mouse
Description:  ELP2:- Differs from SF-1 in its N-terminal domain but has a similar C-terminal domain, due to alternative promoter usage and alternative splicing
References:  27
Type:  Alternative promoters and splicing
Species:  Mouse
Description:  ELP3:- Does not differ from SF-1 but is encoded by a slightly longer mRNA, due to alternative promoter usage and alternative splicing
References:  27

REFERENCES

1. Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL. (2002) Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J. Clin. Endocrinol. Metab.87 (4): 1829-33. [PMID:11932325]

2. Bakke M, Lund J. (1995) Transcriptional regulation of the bovine CYP17 gene: two nuclear orphan receptors determine activity of cAMP-responsive sequence 2. Endocr. Res.21 (1-2): 509-16. [PMID:7588416]

3. Biason-Lauber A, Schoenle EJ. (2000) Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am. J. Hum. Genet.67 (6): 1563-8. [PMID:11038323]

4. Bland ML, Fowkes RC, Ingraham HA. (2004) Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function. Mol. Endocrinol.18 (4): 941-52. [PMID:14726490]

5. Bland ML, Jamieson CA, Akana SF, Bornstein SR, Eisenhofer G, Dallman MF, Ingraham HA. (2000) Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response. Proc. Natl. Acad. Sci. U.S.A.97 (26): 14488-93. [PMID:11121051]

6. Correa RV, Domenice S, Bingham NC, Billerbeck AE, Rainey WE, Parker KL, Mendonca BB. (2004) A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. J. Clin. Endocrinol. Metab.89 (4): 1767-72. [PMID:15070943]

7. Crawford PA, Polish JA, Ganpule G, Sadovsky Y. (1997) The activation function-2 hexamer of steroidogenic factor-1 is required, but not sufficient for potentiation by SRC-1. Mol. Endocrinol.11 (11): 1626-35. [PMID:9328345]

8. Crawford PA, Sadovsky Y, Milbrandt J. (1997) Nuclear receptor steroidogenic factor 1 directs embryonic stem cells toward the steroidogenic lineage. Mol. Cell. Biol.17 (7): 3997-4006. [PMID:9199334]

9. De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P. (1998) Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Mol. Cell. Biol.18 (11): 6653-65. [PMID:9774680]

10. Hammer GD, Krylova I, Zhang Y, Darimont BD, Simpson K, Weigel NL, Ingraham HA. (1999) Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. Mol. Cell3 (4): 521-6. [PMID:10230405]

11. Hu MC, Hsu NC, Pai CI, Wang CK, Chung Bc. (2001) Functions of the upstream and proximal steroidogenic factor 1 (SF-1)-binding sites in the CYP11A1 promoter in basal transcription and hormonal response. Mol. Endocrinol.15 (5): 812-8. [PMID:11328860]

12. Ikeda Y, Lala DS, Luo X, Kim E, Moisan MP, Parker KL. (1993) Characterization of the mouse FTZ-F1 gene, which encodes a key regulator of steroid hydroxylase gene expression. Mol. Endocrinol.7 (7): 852-60. [PMID:8413309]

13. Ikeda Y, Shen WH, Ingraham HA, Parker KL. (1994) Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases. Mol. Endocrinol.8 (5): 654-62. [PMID:8058073]

14. Ingraham HA, Lala DS, Ikeda Y, Luo X, Shen WH, Nachtigal MW, Abbud R, Nilson JH, Parker KL. (1994) The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis. Genes Dev.8 (19): 2302-12. [PMID:7958897]

15. Ito M, Yu R, Jameson JL. (1997) DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol. Cell. Biol.17 (3): 1476-83. [PMID:9032275]

16. Jacob AL, Lund J. (1998) Mutations in the activation function-2 core domain of steroidogenic factor-1 dominantly suppresses PKA-dependent transactivation of the bovine CYP17 gene. J. Biol. Chem.273 (22): 13391-4. [PMID:9593668]

17. Kabe Y, Goto M, Shima D, Imai T, Wada T, Morohashi K, Shirakawa M, Hirose S, Handa H. (1999) The role of human MBF1 as a transcriptional coactivator. J. Biol. Chem.274 (48): 34196-202. [PMID:10567391]

18. Krylova IN, Sablin EP, Moore J, Xu RX, Waitt GM, MacKay JA, Juzumiene D, Bynum JM, Madauss K, Montana V, Lebedeva L, Suzawa M, Williams JD, Williams SP, Guy RK, Thornton JW, Fletterick RJ, Willson TM, Ingraham HA. (2005) Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. Cell120 (3): 343-55. [PMID:15707893]

19. Li Y, Choi M, Cavey G, Daugherty J, Suino K, Kovach A, Bingham NC, Kliewer SA, Xu HE. (2005) Crystallographic identification and functional characterization of phospholipids as ligands for the orphan nuclear receptor steroidogenic factor-1. Mol. Cell17 (4): 491-502. [PMID:15721253]

20. Luo X, Ikeda Y, Parker KL. (1994) A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell77 (4): 481-90. [PMID:8187173]

21. Lynch JP, Lala DS, Peluso JJ, Luo W, Parker KL, White BA. (1993) Steroidogenic factor 1, an orphan nuclear receptor, regulates the expression of the rat aromatase gene in gonadal tissues. Mol. Endocrinol.7 (6): 776-86. [PMID:8395654]

22. Marchal R, Naville D, Durand P, Begeot M, Penhoat A. (1998) A steroidogenic factor-1 binding element is essential for basal human ACTH receptor gene transcription. Biochem. Biophys. Res. Commun.247 (1): 28-32. [PMID:9636648]

23. Monté D, DeWitte F, Hum DW. (1998) Regulation of the human P450scc gene by steroidogenic factor 1 is mediated by CBP/p300. J. Biol. Chem.273 (8): 4585-91. [PMID:9468515]

24. Nachtigal MW, Hirokawa Y, Enyeart-VanHouten DL, Flanagan JN, Hammer GD, Ingraham HA. (1998) Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell93 (3): 445-54. [PMID:9590178]

25. Naville D, Penhoat A, Durand P, Begeot M. (1999) Three steroidogenic factor-1 binding elements are required for constitutive and cAMP-regulated expression of the human adrenocorticotropin receptor gene. Biochem. Biophys. Res. Commun.255 (1): 28-33. [PMID:10082650]

26. Naville D, Penhoat A, Marchal R, Durand P, Bégeot M. (1998) SF-1 and the transcriptional regulation of the human ACTH receptor gene. Endocr. Res.24 (3-4): 391-5. [PMID:9888512]

27. Ninomiya Y, Okada M, Kotomura N, Suzuki K, Tsukiyama T, Niwa O. (1995) Genomic organization and isoforms of the mouse ELP gene. J. Biochem.118 (2): 380-9. [PMID:8543574]

28. Sadovsky Y, Crawford PA, Woodson KG, Polish JA, Clements MA, Tourtellotte LM, Simburger K, Milbrandt J. (1995) Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids. Proc. Natl. Acad. Sci. U.S.A.92 (24): 10939-43. [PMID:7479914]

29. Shen WH, Moore CC, Ikeda Y, Parker KL, Ingraham HA. (1994) Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade. Cell77 (5): 651-61. [PMID:8205615]

30. Shinoda K, Lei H, Yoshii H, Nomura M, Nagano M, Shiba H, Sasaki H, Osawa Y, Ninomiya Y, Niwa O. (1995) Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice. Dev. Dyn.204 (1): 22-9. [PMID:8563022]

31. Takayama K, Morohashi K, Honda S, Hara N, Omura T. (1994) Contribution of Ad4BP, a steroidogenic cell-specific transcription factor, to regulation of the human CYP11A and bovine CYP11B genes through their distal promoters. J. Biochem.116 (1): 193-203. [PMID:7798178]

32. Tremblay JJ, Marcil A, Gauthier Y, Drouin J. (1999) Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain. EMBO J.18 (12): 3431-41. [PMID:10369682]

33. Tremblay JJ, Viger RS. (1999) Transcription factor GATA-4 enhances Müllerian inhibiting substance gene transcription through a direct interaction with the nuclear receptor SF-1. Mol. Endocrinol.13 (8): 1388-401. [PMID:10446911]

34. Wilson MJ, Jeyasuria P, Parker KL, Koopman P. (2005) The transcription factors steroidogenic factor-1 and SOX9 regulate expression of Vanin-1 during mouse testis development. J. Biol. Chem.280 (7): 5917-23. [PMID:15590666]

35. Wong M, Ramayya MS, Chrousos GP, Driggers PH, Parker KL. (1996) Cloning and sequence analysis of the human gene encoding steroidogenic factor 1. J. Mol. Endocrinol.17 (2): 139-47. [PMID:8938589]

36. Zhou D, Chen S. (2001) PNRC2 is a 16 kDa coactivator that interacts with nuclear receptors through an SH3-binding motif. Nucleic Acids Res.29 (19): 3939-48. [PMID:11574675]

To cite this database page, please use the following:

5A. Fushi tarazu F1-like receptors: Steroidogenic factor 1. Last modified on 25/03/2014. Accessed on 01/08/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=632.

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