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]
^ abcGRCm38: 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 readingedit
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. PMC328379. 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. PMC413717. 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. PMC109056. 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. PMC1234916. 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 linksedit
HNF1beta+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
hnf1b, hnf1, homeobox, hepatocyte, nuclear, factor, homeobox, also, known, transcription, factor, tcf2, human, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes2da6, 2h8ridentifiersaliases, fjhn, hnf1beta, hnf2, hpc11, lfb3, mody5, tcf2, vh. HNF1 homeobox B hepatocyte nuclear factor 1 homeobox B also known as HNF1B or transcription factor 2 TCF2 is a human gene HNF1BAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes2DA6 2H8RIdentifiersAliasesHNF1B FJHN HNF 1B HNF1beta HNF2 HPC11 LF B3 LFB3 MODY5 TCF 2 TCF2 VHNF1 HNF 1 beta HNF1 homeobox B T2D ADTKD3 RCADExternal IDsOMIM 189907 MGI 98505 HomoloGene 396 GeneCards HNF1BGene location Human Chr Chromosome 17 human 1 Band17q12Start37 686 431 bp 1 End37 745 059 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 C 11 51 23 cMStart83 740 889 bp 2 End83 796 645 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inkidneybody of pancreasgallbladderislet of Langerhansright uterine tubeduodenumright lobe of liverrectumupper lobe of left lungendometriumTop expressed inproximal tubulekidneyconnecting tubuleyolk sacleft colonBowman s capsulemedullary collecting ductislet of Langerhanscrypt of lieberkuhn of small intestineepithelium of stomachMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding sequence specific DNA binding protein homodimerization activity DNA binding transcription factor activity protein binding protein heterodimerization activity transcription factor activity RNA polymerase II distal enhancer sequence specific binding RNA polymerase II transcription regulatory region sequence specific DNA binding cis regulatory region sequence specific DNA binding DNA binding transcription factor activity RNA polymerase II specific protein containing complex bindingCellular componenttranscription regulator complex nucleoplasm nucleusBiological processNotch signaling pathway pronephros development mesonephric tubule development endoderm development regulation of transcription DNA templated response to organic cyclic compound mesonephric duct development endodermal cell fate specification kidney development mesonephric duct formation ureteric bud elongation protein DNA complex assembly negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis hindbrain development hepatocyte differentiation epithelial cell proliferation insulin secretion negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II response to glucose positive regulation of transcription initiation from RNA polymerase II promoter nephric duct formation circadian regulation of gene expression transcription DNA templated regulation of branch elongation involved in ureteric bud branching negative regulation of mesenchymal cell apoptotic process involved in metanephros development epithelium development nephric duct development genitalia development pronephric nephron tubule development positive regulation of transcription DNA templated hepatoblast differentiation regulation of Wnt signaling pathway positive regulation of gene expression inner cell mass cell differentiation embryonic morphogenesis kidney morphogenesis embryonic digestive tract morphogenesis liver development regulation of endodermal cell fate specification branching morphogenesis of an epithelial tube response to carbohydrate regulation of pronephros size anterior posterior pattern specification positive regulation of transcription by RNA polymerase II endocrine pancreas development regulation of transcription by RNA polymerase II pancreas developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez692821410EnsemblENSG00000276194ENSG00000275410ENSMUSG00000020679UniProtP35680P27889RefSeq mRNA NM 000458NM 001165923NM 001304286NM 006481NM 001291268NM 001291269NM 009330RefSeq protein NP 000449NP 001159395NP 001291215NP 001159395 1NP 001278197NP 001278198NP 033356Location UCSC Chr 17 37 69 37 75 MbChr 11 83 74 83 8 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 See also 3 References 4 Further reading 5 External linksFunction editHNF1B 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 editHepatocyte nuclear factorsReferences edit 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 editMontoli 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 Vcelak J Bendlova 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 editHNF1beta 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 nbsp This article on a gene on human chromosome 17 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title HNF1B amp oldid 1190127559, wikipedia, wiki, book, books, library,
