Pituitary-specific positive transcription factor 1
From Wikipedia, the free encyclopedia
POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)
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PDB rendering based on 1au7. | ||||||||||||||
Available structures: 1au7 | ||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | POU1F1; GHF-1; PIT1; Pit-1; Pit-1 beta | |||||||||||||
External IDs | OMIM: 173110 MGI: 97588 HomoloGene: 259 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 5449 | 18736 | ||||||||||||
Ensembl | ENSG00000064835 | ENSMUSG00000004842 | ||||||||||||
Uniprot | P28069 | Q62089 | ||||||||||||
Refseq | NM_000306 (mRNA) NP_000297 (protein) |
NM_008849 (mRNA) NP_032875 (protein) |
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Location | Chr 3: 87.39 - 87.41 Mb | Chr 16: 65.44 - 65.45 Mb | ||||||||||||
Pubmed search | [1] | [2] |
POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1), also known as POU1F1, is a transcription factor for growth hormone.[1]
PIT1 is a pituitary-specific transcription factor responsible for pituitary development and hormone expression in mammals and is a member of the POU family of transcription factors that regulate mammalian development. The POU family is so named because the first 3 members identified were PIT1 and OCT1 (MIM 164175) of mammals, and Unc-86 of C. elegans (Herr et al., 1988). PIT1 contains 2 protein domains, termed POU-specific and POU-homeo, which are both necessary for high affinity DNA binding on genes encoding growth hormone (GH; MIM 139250) and prolactin (PRL; MIM 176760). PIT1 is also important for regulation of the genes encoding prolactin and thyroid-stimulating hormone beta subunit (TSHB; MIM 188540) by thyrotropin-releasing hormone (TRH; MIM 257120) and cyclic AMP.[supplied by OMIM][2]
[edit] References
[edit] Further reading
- Parks JS, Brown MR (1999). "Transcription factors regulating pituitary development.". Growth Horm. IGF Res. 9 Suppl B: 2–8; discussion 8–11. PMID 10549299.
- Rodriguez R, Andersen B (2003). "Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency.". Minerva Endocrinol. 28 (2): 123–33. PMID 12717343.
- Quentien MH, Barlier A, Franc JL, et al. (2006). "Pituitary transcription factors: from congenital deficiencies to gene therapy.". J. Neuroendocrinol. 18 (9): 633–42. doi: . PMID 16879162.
- Cattini PA, Yang X, Jin Y, Detillieux KA (2006). "Regulation of the human growth hormone gene family: possible role for Pit-1 in early stages of pituitary-specific expression and repression.". Neuroendocrinology 83 (3-4): 145–53. doi: . PMID 17047377.
- Li X, Giachelli CM (2007). "Sodium-dependent phosphate cotransporters and vascular calcification.". Curr. Opin. Nephrol. Hypertens. 16 (4): 325–8. doi: . PMID 17565274.
- Tatsumi K, Miyai K, Notomi T, et al. (1993). "Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.". Nat. Genet. 1 (1): 56–8. doi: . PMID 1302000.
- Tatsumi K, Notomi T, Amino N, Miyai K (1992). "Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1.". Biochim. Biophys. Acta 1129 (2): 231–4. PMID 1370379.
- Ohta K, Nobukuni Y, Mitsubuchi H, et al. (1993). "Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.". Biochem. Biophys. Res. Commun. 189 (2): 851–5. PMID 1472057.
- Ohta K, Nobukuni Y, Mitsubuchi H, et al. (1993). "Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1.". Gene 122 (2): 387–8. PMID 1487156.
- Radovick S, Nations M, Du Y, et al. (1992). "A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.". Science 257 (5073): 1115–8. PMID 1509262.
- Pfäffle RW, DiMattia GE, Parks JS, et al. (1992). "Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.". Science 257 (5073): 1118–21. PMID 1509263.
- Lew AM, Elsholtz HP (1991). "Cloning of the human cDNA for transcription factor Pit-1.". Nucleic Acids Res. 19 (22): 6329. PMID 1956794.
- He X, Treacy MN, Simmons DM, et al. (1989). "Expression of a large family of POU-domain regulatory genes in mammalian brain development.". Nature 340 (6228): 35–41. doi: . PMID 2739723.
- Bodner M, Castrillo JL, Theill LE, et al. (1988). "The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein.". Cell 55 (3): 505–18. PMID 2902927.
- Herr W, Sturm RA, Clerc RG, et al. (1989). "The POU domain: a large conserved region in the mammalian pit-1, oct-1, oct-2, and Caenorhabditis elegans unc-86 gene products.". Genes Dev. 2 (12A): 1513–6. PMID 3215510.
- de Zegher F, Pernasetti F, Vanhole C, et al. (1995). "The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency.". J. Clin. Endocrinol. Metab. 80 (11): 3127–30. PMID 7593413.
- Bamberger AM, Bamberger CM, Pu LP, et al. (1995). "Expression of pit-1 messenger ribonucleic acid and protein in the human placenta.". J. Clin. Endocrinol. Metab. 80 (7): 2021–6. PMID 7608249.
- Irie Y, Tatsumi K, Ogawa M, et al. (1995). "A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.". Endocr. J. 42 (3): 351–4. PMID 7670563.
- Delhase M, Vila V, Hooghe-Peters EL, Castrillo JL (1995). "A novel pituitary transcription factor is produced by alternative splicing of the human GHF-1/PIT-1 gene.". Gene 155 (2): 273–5. PMID 7721104.
- Okamoto N, Wada Y, Ida S, et al. (1995). "Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.". Hum. Mol. Genet. 3 (9): 1565–8. PMID 7833912.
[edit] External links
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