类固醇生成因子1

類固醇生成因子
已知的結構 PDB 直系同源搜索: PDBe RCSB PDBID列表 1YOW、​1ZDT、​4QJR、​4QK4
識別號
别名	NR5A1；, AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3, hSF-1, nuclear receptor subfamily 5 group A member 1, SRXX4
外部ID	OMIM：184757 MGI：1346833 HomoloGene：3638 GeneCards：NR5A1
相關疾病
卵巢早衰、​male infertility with azoospermia or oligozoospermia due to single gene mutation[1]
基因位置（人类） 染色体 9號染色體[2] 基因座 9q33.3 起始 124,481,236 bp[2] 终止 124,507,420 bp[2]
基因位置（小鼠） 染色体 小鼠2号染色体[3] 基因座 2 B|2 24.42 cM 起始 38,582,668 bp[3] 终止 38,604,554 bp[3]
RNA表达模式
查阅更多表达数据
基因本體 分子功能 • 血浆蛋白结合 • 鋅離子結合 • lipid binding • double-stranded DNA binding • 酶结合 • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • steroid hormone receptor activity • 转录共激活因子活性 • phospholipid binding • 金屬離子結合 • DNA结合转录因子活性 • RNA polymerase II cis-regulatory region sequence-specific DNA binding • DNA结合 • chromatin binding • RNA polymerase II transcription regulatory region sequence-specific DNA binding • nuclear receptor activity • sequence-specific DNA binding • DNA-binding transcription factor activity, RNA polymerase II-specific • transcription cis-regulatory region binding 細胞組分 • 核质 • RNA polymerase II transcription regulator complex • 细胞核 生物學過程 • regulation of transcription by RNA polymerase II • positive regulation of transcription, DNA-templated • regulation of steroid biosynthetic process • hormone metabolic process • luteinization • reproductive process • primary sex determination • 组织发生 • multicellular organism aging • 细胞分化 • maintenance of protein location in nucleus • regulation of transcription, DNA-templated • adrenal gland development • transcription, DNA-templated • steroid hormone mediated signaling pathway • cell-cell signaling • transcription by RNA polymerase II • negative regulation of female gonad development • transcription initiation from RNA polymerase II promoter • positive regulation of male gonad development • intracellular receptor signaling pathway • positive regulation of transcription by RNA polymerase II • 性别决定系统 • male gonad development • female gonad development • positive regulation of gene expression • hormone-mediated signaling pathway • calcineurin-mediated signaling • response to gonadotropin-releasing hormone • male sex determination Sources:Amigo / QuickGO
直系同源
物種	人類	小鼠
Entrez	2516	26423
Ensembl	ENSG00000136931	ENSMUSG00000026751
UniProt	Q13285	P33242
mRNA​序列	NM_004959	NM_139051 ​NM_001316687
蛋白序列	NP_004950 NP_004950.2	NP_001303616 ​NP_620639
基因位置​（UCSC）	Chr 9: 124.48 – 124.51 Mb	Chr 2: 38.58 – 38.6 Mb
PubMed​查找	[4]	[5]
維基數據
檢視/編輯人類 檢視/編輯小鼠

类固醇生成因子1（英語：steroidogenic factor 1，缩写SF-1）是一种参与性別決定的转录因子，涉及生殖腺与肾上腺^[6]。这一蛋白由NR5A1基因编码，属于核受体超家族，位于9号染色体长臂段的位置33.3。SF-1最初发现于其能调节CYP450类固醇羟化酶的表达，因而得名，之后又发现了参与调控许多相关基因^[7]。

目标基因

类固醇生成细胞

SF-1最早在肾上腺皮质的类固醇生成细胞中被鉴定出具有调控类固醇生成酶活性，此后又发现在其它类固醇生成细胞中的活性^[7]：

表 1. SF-1 在类固醇生成细胞中的目标基因

物种	基因	细胞/组织	来源
大鼠	CYP11A1	颗粒细胞	[8]
小鼠	CYP11A1	Y1肾上腺皮质细胞	[9]
牛	催产素	卵巢	[10]
小鼠	StAR	MA-10细胞	[11]

其它相互作用

SF1还可與下列蛋白發生相互作用：

• β-连环蛋白^[12][13]
• DAX1^[14][15]
• NRIP1^[16][17]
• SOX9^[18]
• TRERF1^[19]

参考文献

1. 與類固醇生成因子相關的疾病；在維基數據上查看/編輯參考. 
2. GRCh38: Ensembl release 89: ENSG00000136931 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000026751 - Ensembl, May 2017
4. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
5. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
6. Reference, Genetics Home. NR5A1 gene. Genetics Home Reference. [2017-11-30]. （原始内容存档于2020-08-07） （英语）. 
7. Parker KL, Schimmer BP. Steroidogenic factor 1: a key determinant of endocrine development and function. Endocrine Reviews. June 1997, 18 (3): 361–77. PMID 9183568. doi:10.1210/edrv.18.3.0301. 
8. J W Clemens, D S Lala, K L Parker, J S Richards. Steroidogenic factor-1 binding and transcriptional activity of the cholesterol side-chain cleavage promoter in rat granulosa cells.. Endocrinology. 1994-03, 134 (3): 1499–1508 [2020-02-02]. ISSN 0013-7227. doi:10.1210/endo.134.3.8119192 （英语）. 
9. R.J. Ferrier. Synthetic Carbohydrate Chemistry of the 1980s. Carbohydrate Research. 1990-07, 202: ix–xi [2020-02-02]. doi:10.1016/0008-6215(90)84066-4. （原始内容存档于2018-06-23） （英语）. 
10. U. Wehrenberg, R. Ivell, M. Jansen, S. von Goedecke, N. Walther. Two orphan receptors binding to a common site are involved in the regulation of the oxytocin gene in the bovine ovary.. Proceedings of the National Academy of Sciences. 1994-02-15, 91 (4): 1440–1444 [2020-02-02]. ISSN 0027-8424. PMC 43175 . PMID 8108428. doi:10.1073/pnas.91.4.1440 （英语）. 
11. K. M. Caron. Characterization of the Promoter Region of the Mouse Gene Encoding the Steroidogenic Acute Regulatory Protein. Molecular Endocrinology. 1997-02-01, 11 (2): 138–147 [2020-02-02]. ISSN 0888-8809. doi:10.1210/me.11.2.138 （英语）. ^{[永久失效連結]}
12. Kennell JA, O'Leary EE, Gummow BM, Hammer GD, MacDougald OA. 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. August 2003, 23 (15): 5366–75. PMC 165725 . PMID 12861022. doi:10.1128/MCB.23.15.5366-5375.2003. 
13. Mizusaki H, Kawabe K, Mukai T, Ariyoshi E, Kasahara M, Yoshioka H, Swain A, Morohashi K. 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. April 2003, 17 (4): 507–19. PMID 12554773. doi:10.1210/me.2002-0362 . 
14. Lopez D, Shea-Eaton W, Sanchez MD, McLean MP. DAX-1 represses the high-density lipoprotein receptor through interaction with positive regulators sterol regulatory element-binding protein-1a and steroidogenic factor-1. Endocrinology. December 2001, 142 (12): 5097–106. PMID 11713202. doi:10.1210/endo.142.12.8523 . 
15. Sugawara T, Saito M, Fujimoto S. Sp1 and SF-1 interact and cooperate in the regulation of human steroidogenic acute regulatory protein gene expression. Endocrinology. August 2000, 141 (8): 2895–903. PMID 10919277. doi:10.1210/endo.141.8.7602 . 
16. Mellgren G, Børud B, Hoang T, Yri OE, Fladeby C, Lien EA, Lund J. Characterization of receptor-interacting protein RIP140 in the regulation of SF-1 responsive target genes. Molecular and Cellular Endocrinology. May 2003, 203 (1–2): 91–103. PMID 12782406. S2CID 733221. doi:10.1016/S0303-7207(03)00097-2. 
17. Sugawara T, Abe S, Sakuragi N, Fujimoto Y, Nomura E, Fujieda K, Saito M, Fujimoto S. RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1. Endocrinology. August 2001, 142 (8): 3570–7. PMID 11459805. doi:10.1210/endo.142.8.8309 . 
18. De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P. Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Molecular and Cellular Biology. November 1998, 18 (11): 6653–65. PMC 109250 . PMID 9774680. doi:10.1128/mcb.18.11.6653. 
19. Gizard F, Lavallee B, DeWitte F, Teissier E, Staels B, Hum DW. 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. October 2002, 277 (42): 39144–55. PMID 12101186. doi:10.1074/jbc.M205786200 . 

外部链接

• GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis （页面存档备份，存于互联网档案馆）
• OMIM entries on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
• 醫學主題詞表（MeSH）：steroidogenic+factor+1