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Gene Ontology Classifications
HNF1 homeobox B

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GO curators for mouse genes have assigned the following annotations to the gene product of Hnf1b. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 19, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
  1. Barbacci E et al. (1999) Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development, 126:4795-805. (PubMed:10518496)
  2. Barbacci E et al. (2004) HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment. Hum Mol Genet, 13:3139-49. (PubMed:15509593)
  3. Blumenfeld M et al. (1991) Hepatic nuclear factor 1 (HNF1) shows a wider distribution than products of its known target genes in developing mouse. Development, 113:589-99. (PubMed:1685988)
  4. Cereghini S et al. (1992) Expression patterns of vHNF1 and HNF1 homeoproteins in early postimplantation embryos suggest distinct and sequential developmental roles. Development, 116:783-97. (PubMed:1363228)
  5. Cheret C et al. (2002) Hepatocyte Nuclear Factor 1 alpha Controls Renal Expression of the Npt1-Npt4 Anionic Transporter Locus. J Mol Biol, 322:929. (PubMed:12367519)
  6. Coffinier C et al. (1999) Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation. Development, 126:4785-94. (PubMed:10518495)
  7. De Simone V et al. (1991) LFB3, a heterodimer-forming homeoprotein of the LFB1 family, is expressed in specialized epithelia. EMBO J, 10:1435-43. (PubMed:1673925)
  8. Falix FA et al. (2014) Hepatic Notch2 deficiency leads to bile duct agenesis perinatally and secondary bile duct formation after weaning. Dev Biol, 396:201-13. (PubMed:25446530)
  9. Heliot C et al. (2013) HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1/2. Development, 140:873-85. (PubMed:23362348)
  10. Hiesberger T et al. (2005) Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis. J Biol Chem, 280:10578-86. (PubMed:15647252)
  11. Hiesberger T et al. (2004) Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest, 113:814-25. (PubMed:15067314)
  12. Kim FA et al. (2005) The vHNF1 homeodomain protein establishes early rhombomere identity by direct regulation of Kreisler expression. Mech Dev, 122:1300-9. (PubMed:16274963)
  13. Kyrmizi I et al. (2006) Plasticity and expanding complexity of the hepatic transcription factor network during liver development. Genes Dev, 20:2293-305. (PubMed:16912278)
  14. Lokmane L et al. (2010) vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development, 137:347-57. (PubMed:20040500)
  15. Lokmane L et al. (2008) Crucial role of vHNF1 in vertebrate hepatic specification. Development, 135:2777-86. (PubMed:18635606)
  16. Maestro MA et al. (2003) Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas. Hum Mol Genet, 12:3307-14. (PubMed:14570708)
  17. Mendel DB et al. (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, 5:1042-56. (PubMed:2044952)
  18. Mouchel N et al. (2004) HNF1alpha is involved in tissue-specific regulation of CFTR gene expression. Biochem J, 378:909-18. (PubMed:14656222)
  19. Pontoglio M et al. (1996) Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell, 84:575-85. (PubMed:8598044)
  20. Qian CN et al. (2005) Cystic Renal Neoplasia Following Conditional Inactivation of Apc in Mouse Renal Tubular Epithelium. J Biol Chem, 280:3938-3945. (PubMed:15550389)
  21. Sirbu IO et al. (2005) Shifting boundaries of retinoic acid activity control hindbrain segmental gene expression. Development, 132:2611-22. (PubMed:15872003)
  22. Smith AN et al. (2010) Which FGF ligands are involved in lens induction? Dev Biol, 337:195-8. (PubMed:19913010)
  23. Tanaka M et al. (2004) Cardiomyocyte-specific Bcl-2 overexpression attenuates ischemia-reperfusion injury, immune response during acute rejection, and graft coronary artery disease. Blood, 104:3789-96. (PubMed:15280201)
  24. Torres-Padilla ME et al. (2006) Role of TIF1{alpha} as a modulator of embryonic transcription in the mouse zygote. J Cell Biol, 174:329-38. (PubMed:16880268)
  25. Wang L et al. (2004) Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release. Endocrinology, 145:3941-9. (PubMed:15142986)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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