类固醇生成因子1

位於9號人類染色體的基因

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转录因子,涉及生殖腺肾上腺[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]

類固醇生成因子
已知的結構
PDB直系同源搜索: PDBe RCSB
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IDOMIM184757 MGI1346833 HomoloGene3638 GeneCardsNR5A1
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
9號染色體
染色体9號染色體[2]
9號染色體
類固醇生成因子的基因位置
類固醇生成因子的基因位置
基因座9q33.3起始124,481,236 bp[2]
终止124,507,420 bp[2]
RNA表达模式
查阅更多表达数据
直系同源
物種人類小鼠
Entrez
Ensembl
UniProt
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 MbChr 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

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]
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

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. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000136931 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 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. ^ 7.0 7.1 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 . 

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