Pituitary-specific positive transcription factor 1

POU1F1
Identifiers
Aliases	POU1F1, CPHD1, GHF-1, PIT1, POU1F1a, Pit-1, POU class 1 homeobox 1
External IDs	OMIM: 173110; MGI: 97588; HomoloGene: 259; GeneCards: POU1F1; OMA:POU1F1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3p11.2 Start 87,259,404 bp End 87,276,584 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16 C1.3|16 37.25 cM Start 65,317,397 bp End 65,331,891 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pituitary gland anterior pituitary muscle of thigh striated muscle tissue skeletal muscle tissue gastrocnemius muscle Brodmann area 9 right uterine tube mucosa of transverse colon right coronary artery Top expressed in female urethra anterior pituitary embryo pars distalis of adenohypophysis bone marrow duodenum urinary bladder ovary More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding transcription corepressor activity transcription coactivator activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding chromatin binding DNA-binding transcription factor activity transcription factor binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus transcription regulator complex chromatin Biological process negative regulation of cell population proliferation somatotropin secreting cell development adenohypophysis development positive regulation of inositol trisphosphate biosynthetic process regulation of insulin-like growth factor receptor signaling pathway pituitary gland development regulation of transcription, DNA-templated cell fate specification B cell differentiation positive regulation of cell population proliferation positive regulation of transcription, DNA-templated determination of adult lifespan positive regulation of transcription by RNA polymerase II positive regulation of multicellular organism growth nuclear transport negative regulation of transcription by RNA polymerase II somatotropin secreting cell differentiation transcription, DNA-templated transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5449 18736 Ensembl ENSG00000064835 ENSMUSG00000004842 UniProt P28069 Q00286 RefSeq (mRNA) NM_001122757 NM_000306 NM_008849 NM_001362468 RefSeq (protein) NP_000297 NP_001116229 NP_032875 NP_001349397 Location (UCSC) Chr 3: 87.26 – 87.28 Mb Chr 16: 65.32 – 65.33 Mb PubMed search
Wikidata
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POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1), also known as POU1F1, is a transcription factor for growth hormone.

Function

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]

Interactions

Pituitary-specific positive transcription factor 1 has been shown to interact with GATA2 and PITX1.

Further reading

• Parks JS, Brown MR (1999). "Transcription factors regulating pituitary development". Growth Horm. IGF Res. 9 Suppl B: 2–8, discussion 8–11. doi:10.1016/S1096-6374(99)80074-4. 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, Pellegrini I, Brue T, Enjalbert A (2006). "Pituitary transcription factors: from congenital deficiencies to gene therapy". J. Neuroendocrinol. 18 (9): 633–42. doi:10.1111/j.1365-2826.2006.01461.x. 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:10.1159/000095522. PMID 17047377.
• Li X, Giachelli CM (2007). "Sodium-dependent phosphate cotransporters and vascular calcification". Curr. Opin. Nephrol. Hypertens. 16 (4): 325–8. doi:10.1097/MNH.0b013e3281c55ef1. PMID 17565274.
• Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y, Kohno H (1993). "Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene". Nat. Genet. 1 (1): 56–8. doi:10.1038/ng0492-56. 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. doi:10.1016/0167-4781(92)90494-k. PMID 1370379.
• Ohta K, Nobukuni Y, Mitsubuchi H, Fujimoto S, Matsuo N, Inagaki H, Endo F, Matsuda I (1993). "Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency". Biochem. Biophys. Res. Commun. 189 (2): 851–5. doi:10.1016/0006-291X(92)92281-2. PMID 1472057.
• Ohta K, Nobukuni Y, Mitsubuchi H, Ohta T, Tohma T, Jinno Y, Endo F, Matsuda I (1993). "Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1". Gene. 122 (2): 387–8. doi:10.1016/0378-1119(92)90234-G. PMID 1487156.
• Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE (1992). "A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency". Science. 257 (5073): 1115–8. doi:10.1126/science.257.5073.1115. PMID 1509262.
• Pfäffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, Van der Nat H, Van den Brande JL, Rosenfeld MG, Ingraham HA (1992). "Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia". Science. 257 (5073): 1118–21. doi:10.1126/science.257.5073.1118. PMID 1509263.
• Lew AM, Elsholtz HP (1991). "Cloning of the human cDNA for transcription factor Pit-1". Nucleic Acids Res. 19 (22): 6329. doi:10.1093/nar/19.22.6329. PMC 329149. PMID 1956794.
• He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW, Rosenfeld MG (1989). "Expression of a large family of POU-domain regulatory genes in mammalian brain development". Nature. 340 (6228): 35–41. doi:10.1038/340035a0. PMID 2739723.
• Bodner M, Castrillo JL, Theill LE, Deerinck T, Ellisman M, Karin M (1988). "The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein". Cell. 55 (3): 505–18. doi:10.1016/0092-8674(88)90037-2. PMID 2902927.
• Herr W, Sturm RA, Clerc RG, Corcoran LM, Baltimore D, Sharp PA, Ingraham HA, Rosenfeld MG, Finney M, Ruvkun G (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. doi:10.1101/gad.2.12a.1513. PMID 3215510.
• de Zegher F, Pernasetti F, Vanhole C, Devlieger H, Van den Berghe G, Martial JA (1995). "The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency". J. Clin. Endocrinol. Metab. 80 (11): 3127–30. doi:10.1210/jc.80.11.3127. PMID 7593413.
• Bamberger AM, Bamberger CM, Pu LP, Puy LA, Loh YP, Asa SL (1995). "Expression of pit-1 messenger ribonucleic acid and protein in the human placenta". J. Clin. Endocrinol. Metab. 80 (7): 2021–6. doi:10.1210/jc.80.7.2021. PMID 7608249.
• Irie Y, Tatsumi K, Ogawa M, Kamijo T, Preeyasombat C, Suprasongsin C, Amino N (1995). "A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency". Endocr. J. 42 (3): 351–4. doi:10.1507/endocrj.42.351. 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. doi:10.1016/0378-1119(94)00757-J. PMID 7721104.
• Okamoto N, Wada Y, Ida S, Koga R, Ozono K, Chiyo H, Hayashi A, Tatsumi K (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. doi:10.1093/hmg/3.9.1565. PMID 7833912.

External links

• PIT1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Transcription+Factor+Pit-1 at the U.S. National Library of Medicine Medical Subject Headings (MeSH)