WordNet

be a contributing factor; "make things factor into a companys profitability"
any of the numbers (or symbols) that form a product when multiplied together
an independent variable in statistics
anything that contributes causally to a result; "a number of factors determined the outcome"
consider as relevant when making a decision; "You must factor in the recent developments" (同)factor in, factor out
resolve into factors; "a quantum computer can factor the number 15" (同)factor in, factor out
an event known to have happened or something known to have existed; "your fears have no basis in fact"; "how much of the story is fact and how much fiction is hard to tell"
a concept whose truth can be proved; "scientific hypotheses are not facts"
a piece of information about circumstances that exist or events that have occurred; "first you must collect all the facts of the case"
a statement or assertion of verified information about something that is the case or has happened; "he supported his argument with an impressive array of facts"

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(…の)『要因』,(…を生み出す)要素《+『in』+『名』(do『ing』)》 / 囲数,約数 / 代理人,《おもに英》仲買人 / =factorize
〈C〉『事実』,実際にある(あった)事 / 〈U〉真相,真実(truth) / 《the~》(法律用語で)犯行

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/21 16:29:32」(JST)

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The steroidogenic factor 1 (SF1) protein controls sexual development in the embryo and at puberty.

SF1 is a member of the nuclear receptor family of intracellular transcription factors and is encoded by the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1).^[3]

Function

SF-1 is a critical regulator of reproduction, regulating the transcription of key genes involved in sexual development and reproduction, most notably StAR and P450_SCC. It can form a transcriptional complex with TDF to up-regulate transcription of the Sox9 gene. Its targets include genes at every level of the hypothalamic-pituitary-gonadal axis, as well as many genes involved in gonadal and adrenal steroidogenesis.^[4]

Clinical significance

Mutations in NR5A1 can produce intersex genitals, absence of puberty, and infertility. It is one cause of arrest of ovarian function in women <40 years of age, which occurs in 1% of all women.

Missense, in-frame and frameshift mutations of NR5A1 have been found in families with 46,XY disorders of sex development, 46,XX gonadal dysgenesis and 46,XX primary ovarian insufficiency. 46,XY individuals may have ambiguous or female genitals. Individuals of either karyotype may not enter puberty, although expression of the phenotype, penetrance, fertility, and modes of inheritance can vary. Some mutations are dominant, some are recessive.^[5]

Interactions

Steroidogenic factor 1 has been shown to interact with:

Beta-catenin^[6]^[7]
DAX1^[8]^[9]
NRIP1^[10]^[11]
SOX9^[12]
TRERF1.^[13]

References

^ "Human PubMed Reference:".
^ "Mouse PubMed Reference:".
^ Taketo M, Parker KL, Howard TA, Tsukiyama T, Wong M, Niwa O, Morton CC, Miron PM, Seldin MF (Jan 1995). "Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33". Genomics. 25 (2): 565–7. doi:10.1016/0888-7543(95)80059-U. PMID 7789992.
^ Jameson JL (Dec 2004). "Of mice and men: The tale of steroidogenic factor-1". The Journal of Clinical Endocrinology and Metabolism. 89 (12): 5927–9. doi:10.1210/jc.2004-2047. PMID 15579738.
^ Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A (Mar 2009). "Mutations in NR5A1 associated with ovarian insufficiency". The New England Journal of Medicine. 360 (12): 1200–10. doi:10.1056/NEJMoa0806228. PMC 2778147. PMID 19246354.
^ Kennell JA, O'Leary EE, Gummow BM, Hammer GD, MacDougald OA (Aug 2003). "T-cell factor 4N (TCF-4N), a novel isoform of mouse TCF-4, synergizes with beta-catenin to coactivate C/EBPalpha and steroidogenic factor 1 transcription factors". Molecular and Cellular Biology. 23 (15): 5366–75. doi:10.1128/MCB.23.15.5366-5375.2003. PMC 165725. PMID 12861022.
^ Mizusaki H, Kawabe K, Mukai T, Ariyoshi E, Kasahara M, Yoshioka H, Swain A, Morohashi K (Apr 2003). "Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad". Molecular Endocrinology. 17 (4): 507–19. doi:10.1210/me.2002-0362. PMID 12554773.
^ Lopez D, Shea-Eaton W, Sanchez MD, McLean MP (Dec 2001). "DAX-1 represses the high-density lipoprotein receptor through interaction with positive regulators sterol regulatory element-binding protein-1a and steroidogenic factor-1". Endocrinology. 142 (12): 5097–106. doi:10.1210/endo.142.12.8523. PMID 11713202.
^ Sugawara T, Saito M, Fujimoto S (Aug 2000). "Sp1 and SF-1 interact and cooperate in the regulation of human steroidogenic acute regulatory protein gene expression". Endocrinology. 141 (8): 2895–903. doi:10.1210/en.141.8.2895. PMID 10919277.
^ Mellgren G, Børud B, Hoang T, Yri OE, Fladeby C, Lien EA, Lund J (May 2003). "Characterization of receptor-interacting protein RIP140 in the regulation of SF-1 responsive target genes". Molecular and Cellular Endocrinology. 203 (1-2): 91–103. doi:10.1016/S0303-7207(03)00097-2. PMID 12782406.
^ Sugawara T, Abe S, Sakuragi N, Fujimoto Y, Nomura E, Fujieda K, Saito M, Fujimoto S (Aug 2001). "RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1". Endocrinology. 142 (8): 3570–7. doi:10.1210/en.142.8.3570. PMID 11459805.
^ De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P (Nov 1998). "Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene". Molecular and Cellular Biology. 18 (11): 6653–65. doi:10.1128/mcb.18.11.6653. PMC 109250. PMID 9774680.
^ Gizard F, Lavallee B, DeWitte F, Teissier E, Staels B, Hum DW (Oct 2002). "The transcriptional regulating protein of 132 kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells". The Journal of Biological Chemistry. 277 (42): 39144–55. doi:10.1074/jbc.M205786200. PMID 12101186.

External links

GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
OMIM entries on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
steroidogenic factor 1 at the US National Library of Medicine Medical Subject Headings (MeSH)

UpToDate Contents

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1. 副腎不全の稀な原因 unusual causes of adrenal insufficiency
2. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
3. 外陰部異常を有する幼児の評価 evaluation of the infant with ambiguous genitalia
4. 副腎ステロイド生合成 adrenal steroid biosynthesis
5. 正常な性的発育 normal sexual development

English Journal

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations.

Croce S1, de Kock L, Boshari T, Hostein I, Velasco V, Foulkes WD, McCluggage WG.
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.Int J Gynecol Pathol.2016 Jul;35(4):301-8. doi: 10.1097/PGP.0000000000000240.
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare neoplasm which morphologically and immunohistochemically exhibits overlap with an ovarian sex cord tumor. Although many of these neoplasms are positive with markers of ovarian sex cord-stromal tumors, staining is often limited and t
PMID 26598979

Quercetin mitigates fenitrothion-induced testicular toxicity in rats.

Saber TM1, Abd El-Aziz RM2, Ali HA3.
Andrologia.Andrologia.2016 Jun;48(5):491-500. doi: 10.1111/and.12467. Epub 2015 Aug 11.
Fenitrothion (FNT) is a widely used organophosphorus pesticide in agriculture. Quercetin (QR), a plant-derived flavonoid, has a free radical scavenging property. This study investigated the protective effect of QR on FNT-induced testicular toxicity in rats. Twenty-four male rats were divided into fo
PMID 26264430

Novel targeted therapies in adrenocortical carcinoma.

Konda B1, Kirschner LS.
Current opinion in endocrinology, diabetes, and obesity.Curr Opin Endocrinol Diabetes Obes.2016 Jun;23(3):233-41. doi: 10.1097/MED.0000000000000247.
PURPOSE OF REVIEW: Adrenocortical carcinoma is a rare cancer, but one that carries a poor prognosis due to its aggressive nature and unresponsiveness to conventional chemotherapeutic strategies. Over the past 12 years, there has been renewed interest in developing new therapies for this cancer, incl
PMID 27119750

Japanese Journal

Ｊｏｕｒｎａｌ　ｏｆ　Ｔｏｘｉｃｏｌｏｇｉｃ　Ｐａｔｈｏｌｏｇｙ

Kato Yuki,Kashiwagi Emi,Asaoka Yoshiji,Fujisawa Kae,Tsuchiya Noriko,Torii Mikinori
Ｊｏｕｒｎａｌ　ｏｆ　Ｔｏｘｉｃｏｌｏｇｉｃ　Ｐａｔｈｏｌｏｇｙ 32(2), 101-104, 2019
… One type included small cells with a round nucleus and acidophilic cytoplasm, and the cells were positive for steroidogenic factor-1 (SF-1) but negative for nestin. …
NAID 130007636044

Muscle Androgen Receptor Content but Not Systemic Hormones Is Associated With Resistance Training-Induced Skeletal Muscle Hypertrophy in Healthy, Young Men

Morton Robert W.,Sato Koji,Gallaugher Michael P. B.,Oikawal Sara Y.,McNicholas Paul D.,Fujita Satoshi,Phillips Stuart M.
Frontiers in Physiology (9), 1373, 2018-10-09
… Backward elimination and principal component regression evaluated the statistical significance of proposed circulating anabolic hormones (e.g., testosterone, free testosterone, dehydroepiandrosterone, dihydrotestosterone, insulin-like growth factor-1, free insulin-like growth factor-1, luteinizing hormone, and growth hormone) and RET-induced changes in muscle mass (n = 49). … The steroidogenic enzyme 5α-reductase increased following RET in the HIR (P < …
NAID 120006532036

細胞増殖マーカーを用いた胎生期マウス視床下部発生の解析

高橋美文,駒田致和,田渕雅子,宮澤健,後藤滋巳,池田やよい
愛知学院大学歯学会誌 55(4), 311-321, 2017-12
NAID 40021472901

「SF-1」

NR5A1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1YOW, 1ZDT, 4QJR, 4QK4
Identifiers
Aliases	NR5A1, AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3, hSF-1, nuclear receptor subfamily 5 group A member 1
External IDs	OMIM: 184757 MGI: 1346833 HomoloGene: 3638 GeneCards: NR5A1
Gene ontology
Molecular function	• transcription regulatory region sequence-specific DNA binding; • protein binding; • zinc ion binding; • lipid binding; • RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding; • double-stranded DNA binding; • enzyme binding; • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; • steroid hormone receptor activity; • transcription coactivator activity; • phospholipid binding; • sequence-specific DNA binding; • metal ion binding; • transcription factor activity, sequence-specific DNA binding; • RNA polymerase II distal enhancer sequence-specific DNA binding; • DNA binding; • chromatin binding;
Cellular component	• nucleoplasm; • RNA polymerase II transcription factor complex; • nucleus;
Biological process	• regulation of transcription from RNA polymerase II promoter; • positive regulation of transcription, DNA-templated; • regulation of steroid biosynthetic process; • hormone metabolic process; • luteinization; • reproductive process; • hormone-mediated signaling pathway; • primary sex determination; • tissue development; • multicellular organism aging; • cell differentiation; • maintenance of protein location in nucleus; • regulation of transcription, DNA-templated; • adrenal gland development; • transcription, DNA-templated; • female gonad development; • steroid hormone mediated signaling pathway; • cell-cell signaling; • transcription from RNA polymerase II promoter; • negative regulation of female gonad development; • transcription initiation from RNA polymerase II promoter; • male gonad development; • positive regulation of male gonad development; • positive regulation of transcription from RNA polymerase II promoter; • intracellular receptor signaling pathway;
	Sources:Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	2516
	26423
	ENSG00000136931
	ENSMUSG00000026751
	Q13285
	P33242
	NM_004959
	NM_139051; NM_001316687
	NP_004950.2; NP_004950.2
	NP_620639.1; NP_001303616.1
	Wikidata
View/Edit Human	View/Edit Mouse