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HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene.
Function
HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of the homeobox-containing basic helix-turn-helix family. The HNF1B protein is believed to form heterodimers with another member of this transcription factor family, HNF1A; depending on the HNF1B isoform, the result may be to activate or inhibit transcription of target genes. Deficiency of HNF1B cause abnormal maternal-Zygote transition and early embryogenesis failure.[5][6] Mutation of HNF1B that disrupts normal function has been identified as the cause of MODY 5 (Maturity-Onset of Diabetes, Type 5). A third human transcript variant is believed to exist based on such a variant in the rat: however, to date such an mRNA species has not been isolated.[7]
See also
References
- ^ a b c ENSG00000275410 GRCh38: Ensembl release 89: ENSG00000276194, ENSG00000275410 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020679 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Barbacci E, Reber M, Ott MO, et al. (1999). "Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification". Development. 126 (21): 4795–4805. doi:10.1242/dev.126.21.4795. PMID 10518496.
- ^ Coffinier C, Thepot D, Babinet C, et al. (1999). "Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation". Development. 126 (21): 4785–4794. doi:10.1242/dev.126.21.4785. PMID 10518495.
- ^ "HNF1B HNF1 homeobox B [ Homo sapiens (human) ]".
Further reading
- Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F (2002). "Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement". Am. J. Kidney Dis. 40 (2): 397–402. doi:10.1053/ajkd.2002.34538. PMID 12148114.
- Bach I, Mattei MG, Cereghini S, Yaniv M (1991). "Two members of an HNF1 homeoprotein family are expressed in human liver". Nucleic Acids Res. 19 (13): 3553–9. doi:10.1093/nar/19.13.3553. PMC 328379. PMID 1677179.
- Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR (1991). "HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro". Genes Dev. 5 (6): 1042–56. doi:10.1101/gad.5.6.1042. PMID 2044952.
- Abbott C, Piaggio G, Ammendola R, Solomon E, Povey S, Gounari F, De Simone V, Cortese R (1991). "Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction". Genomics. 8 (1): 165–7. doi:10.1016/0888-7543(90)90239-Q. PMID 2081590.
- Bach I, Yaniv M (1993). "More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing". EMBO J. 12 (11): 4229–42. doi:10.1002/j.1460-2075.1993.tb06107.x. PMC 413717. PMID 7900999.
- Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI (1997). "Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY". Nat. Genet. 17 (4): 384–5. doi:10.1038/ng1297-384. PMID 9398836. S2CID 33770012.
- Soubt MK, Marksitzer R, Menoud PA, Nagamine Y (1998). "Role of tissue-specific transcription factor LFB3 in a cyclic AMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 cells". Mol. Cell. Biol. 18 (8): 4698–706. doi:10.1128/mcb.18.8.4698. PMC 109056. PMID 9671480.
- Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O (1999). "A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta". Hum. Mol. Genet. 8 (11): 2001–8. doi:10.1093/hmg/8.11.2001. PMID 10484768.
- Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT (2000). "Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta". Kidney Int. 57 (3): 898–907. doi:10.1046/j.1523-1755.2000.057003898.x. PMID 10720943.
- Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT (2001). "Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease". Am. J. Hum. Genet. 68 (1): 219–24. doi:10.1086/316945. PMC 1234916. PMID 11085914.
- Ek J, Grarup N, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O (2002). "Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function". Hum. Mutat. 18 (4): 356–7. doi:10.1002/humu.1201. PMID 11668623. S2CID 86548348.
- Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R (2002). "A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes". Diabetologia. 45 (1): 153–4. doi:10.1007/s001250200019. PMID 11845237.
- Yoshiuchi I, Yamagata K, Zhu Q, Tamada I, Takahashi Y, Onigata K, Takeda J, Miyagawa J, Matsuzawa Y (2002). "Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY". Diabetologia. 45 (1): 154–5. doi:10.1007/s001250200020. PMID 11845238.
- Hu C, Perlmutter DH (2002). "Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells". Am. J. Physiol. Lung Cell Mol. Physiol. 282 (4): L757–65. doi:10.1152/ajplung.00271.2001. PMID 11880302. S2CID 86020585.
- Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT (2002). "Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations". Kidney Int. 61 (4): 1243–51. doi:10.1046/j.1523-1755.2002.00272.x. PMID 11918730.
- Selisko T, Vcelák J, Bendlová B, Graessler J, Schwarz PE, Schulze J (2002). "Mutations and intronic variants in the HNF-1 beta gene in a group of German and Czech Caucasians with type 2 diabetes mellitus and progressive diabetic nephropathy". Exp. Clin. Endocrinol. Diabetes. 110 (3): 145–7. doi:10.1055/s-2002-29093. PMID 12012276.
- Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K (2002). "Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese". J. Clin. Endocrinol. Metab. 87 (8): 3859–63. doi:10.1210/jcem.87.8.8776. PMID 12161522. S2CID 38389087.
- Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT (2003). "Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation". Kidney Int. 63 (5): 1645–51. doi:10.1046/j.1523-1755.2003.00903.x. PMID 12675839.
External links
- HNF1beta+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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