Steroidogenic factor 1

From Wikipedia, the free encyclopedia


Nuclear receptor subfamily 5, group A, member 1
PDB rendering based on 1ymt.
Available structures: 1ymt, 1yow, 1yp0, 1zdt, 2a66, 2ff0
Identifiers
Symbol(s) NR5A1; AD4BP; ELP; FTZ1; FTZF1; SF-1; SF1
External IDs OMIM: 184757 MGI: 1346833 HomoloGene: 3638
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2516 26423
Ensembl ENSG00000136931 ENSMUSG00000026751
Uniprot Q13285 P97782
Refseq NM_004959 (mRNA)
NP_004950 (protein)		 NM_139051 (mRNA)
NP_620639 (protein)
Location Chr 9: 126.28 - 126.31 Mb Chr 2: 38.51 - 38.54 Mb
Pubmed search [1] [2]

The steroidogenic factor 1 (SF1) protein 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).[1]

SF-1 is critical regulator of reproduction because its targets include genes at every level of the hypothalamic-pituitary-gonadal axis, as well as many genes involved in gonadal and adrenal steroidogenesis.[2]

[edit] References

  1. ^ Taketo M, Parker KL, Howard TA, Tsukiyama T, Wong M, Niwa O, Morton CC, Miron PM, Seldin MF (1995). "Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33.". Genomics 25 (2): 565–7. PMID 7789992. 
  2. ^ Jameson JL (2004). "Of mice and men: The tale of steroidogenic factor-1.". J. Clin. Endocrinol. Metab. 89 (12): 5927–9. doi:10.1210/jc.2004-2047. PMID 15579738. 

[edit] Further reading

  • Morohashi KI, Omura T (1997). "Ad4BP/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function.". FASEB J. 10 (14): 1569–77. PMID 9002548. 
  • Parker KL, Schimmer BP (1997). "Steroidogenic factor 1: a key determinant of endocrine development and function.". Endocr. Rev. 18 (3): 361–77. PMID 9183568. 
  • Achermann JC, Meeks JJ, Jameson JL (2003). "Phenotypic spectrum of mutations in DAX-1 and SF-1.". Mol. Cell. Endocrinol. 185 (1-2): 17–25. PMID 11738790. 
  • Ozisik G, Achermann JC, Jameson JL (2003). "The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.". Mol. Genet. Metab. 76 (2): 85–91. PMID 12083805. 
  • Jameson JL (2005). "Of mice and men: The tale of steroidogenic factor-1.". J. Clin. Endocrinol. Metab. 89 (12): 5927–9. doi:10.1210/jc.2004-2047. PMID 15579738. 
  • de-Souza BF, Lin L, Achermann JC (2006). "Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology.". Pediatric endocrinology reviews : PER 3 (4): 359–64. PMID 16816804. 
  • Sadovsky Y, Crawford PA, Woodson KG, et al. (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. 
  • Sasano H, Shizawa S, Suzuki T, et al. (1995). "Ad4BP in the human adrenal cortex and its disorders.". J. Clin. Endocrinol. Metab. 80 (8): 2378–80. PMID 7629233. 
  • Taketo M, Parker KL, Howard TA, et al. (1995). "Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33.". Genomics 25 (2): 565–7. PMID 7789992. 
  • Shen WH, Moore CC, Ikeda Y, et al. (1994). "Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade.". Cell 77 (5): 651–61. PMID 8205615. 
  • Oba K, Yanase T, Nomura M, et al. (1996). "Structural characterization of human Ad4bp (SF-1) gene.". Biochem. Biophys. Res. Commun. 226 (1): 261–7. PMID 8806624. 
  • Asa SL, Bamberger AM, Cao B, et al. (1996). "The transcription activator steroidogenic factor-1 is preferentially expressed in the human pituitary gonadotroph.". J. Clin. Endocrinol. Metab. 81 (6): 2165–70. PMID 8964846. 
  • Bamberger AM, Ezzat S, Cao B, et al. (1997). "Expression of steroidogenic factor-1 (SF-1) mRNA and protein in the human placenta.". Mol. Hum. Reprod. 2 (6): 457–61. PMID 9238716. 
  • Crawford PA, Polish JA, Ganpule G, Sadovsky Y (1998). "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. 
  • Nachtigal MW, Hirokawa Y, Enyeart-VanHouten DL, et al. (1998). "Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.". Cell 93 (3): 445–54. PMID 9590178. 
  • De Santa Barbara P, Bonneaud N, Boizet B, et al. (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. 
  • Hammer GD, Krylova I, Zhang Y, et al. (1999). "Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress.". Mol. Cell 3 (4): 521–6. PMID 10230405. 
  • Achermann JC, Ito M, Ito M, et al. (1999). "A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.". Nat. Genet. 22 (2): 125–6. doi:10.1038/9629. PMID 10369247. 

[edit] External links

 This article on a gene on chromosome 9 is a stub. You can help Wikipedia by expanding it.
v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD