Biology:HNF1B

Short description: Mammalian protein found in Homo sapiens

Generic protein structure example

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. 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.

See also

• Hepatocyte nuclear factors

Further reading

• "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. 2002. doi:10.1053/ajkd.2002.34538. PMID 12148114. 
• "Two members of an HNF1 homeoprotein family are expressed in human liver". Nucleic Acids Res. 19 (13): 3553–9. 1991. doi:10.1093/nar/19.13.3553. PMID 1677179. 
• "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. 1991. doi:10.1101/gad.5.6.1042. PMID 2044952. 
• "Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction". Genomics 8 (1): 165–7. 1991. doi:10.1016/0888-7543(90)90239-Q. PMID 2081590. 
• "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. 1993. doi:10.1002/j.1460-2075.1993.tb06107.x. PMID 7900999. 
• "Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY". Nat. Genet. 17 (4): 384–5. 1997. doi:10.1038/ng1297-384. PMID 9398836. 
• "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. 1998. doi:10.1128/mcb.18.8.4698. PMID 9671480. 
• "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. 1999. doi:10.1093/hmg/8.11.2001. PMID 10484768. 
• "Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta". Kidney Int. 57 (3): 898–907. 2000. doi:10.1046/j.1523-1755.2000.057003898.x. PMID 10720943. 
• "Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease". Am. J. Hum. Genet. 68 (1): 219–24. 2001. doi:10.1086/316945. PMID 11085914. 
• "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. 2002. doi:10.1002/humu.1201. PMID 11668623. 
• "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. 2002. doi:10.1007/s001250200019. PMID 11845237. 
• "Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY". Diabetologia 45 (1): 154–5. 2002. doi:10.1007/s001250200020. PMID 11845238. 
• "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. 2002. doi:10.1152/ajplung.00271.2001. PMID 11880302. 
• "Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations". Kidney Int. 61 (4): 1243–51. 2002. doi:10.1046/j.1523-1755.2002.00272.x. PMID 11918730. 
• "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. 2002. doi:10.1055/s-2002-29093. PMID 12012276. 
• "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. 2002. doi:10.1210/jcem.87.8.8776. PMID 12161522. 
• "Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation". Kidney Int. 63 (5): 1645–51. 2003. doi:10.1046/j.1523-1755.2003.00903.x. PMID 12675839. 

External links

• HNF1beta+protein,+human at the US 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.