Hepatocyte Nuclear Factor-1 (HNF1b, HNF1a)
Transcription Factors

Author: Marcello Capella Federica DAmico
Date: 21/03/2008

Description

Hepatocyte Nuclear Factor-1-Alpha - HNF1a

Hepatocyte Nuclear Factor-1-Alpha

Hepatocyte Nuclear Factor-1-Beta - HNF1b

DatabaseLink
WikigenesHNF1aHNF1b
GeneCards"HNF1a":"HNF1b":

DEFINITION

A short protein description with the molecular wheight, isoforms, etc...
Use, when available, the link to Wikipedia (Es Trypsin)

External links not available on Wikipedia have to be added here

CHEMICAL STRUCTURE AND IMAGES

When relevant for the function

  • Primary structure
  • Secondary structure
  • Tertiary structure
  • Quaternary structure

Protein Aminoacids Percentage

SYNTHESIS AND TURNOVER

mRNA synthesis
protein synthesis
post-translational modifications
degradation

CELLULAR FUNCTIONS

cellular localization,
biological function

HNF1 are transcription factors

Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta
The inactivation of the HepatocyteNuclearFactor1ß gene identified an essential role in epithelial differentiation of the visceral endoderm and resulted in early embryonic death. Mutant animals exhibited severe jaundice caused by a failure in the organization of duct structures during liver organogenesis, suggesting an essential function of Hnf1b in bile duct morphogenesis.

Suppression of C/EBP{alpha} expression in periportal hepatoblasts may stimulate biliary cell differentiation through increased Hnf6 and Hnf1b expression

Functions of HNF1 Family Members in Differentiation of the Visceral Endoderm Cell Lineage

Renal Phenotypes Related to Hepatocyte Nuclear Factor-1beta (TCF2) Mutations in a Pediatric Cohort

  • Target Proteins
    • albumin
    • alpha1-antitrypsin
    • phenylalanine hydroxylase

Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. 1996
Cell. 1996 Feb 23;84(4):575-85.
Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach JP, Babinet C, Yaniv M.

Unité des Virus Oncogènes, Département des Biotechnologies, InstitutPasteur, Paris, France.
Abstract

HNF1 is a transcriptional activator of many hepatic genes including albumin, alpha1-antitrypsin, and alpha- and beta-fibrinogen. It is related to the homeobox gene family and is predominantly expressed in liver and kidney. Mice lacking HNF1 fail to thrive and die around weaning after a progressive wasting syndrome with a marked liver enlargement. The transcription rate of genes like albumin and alpha1-antitrypsin is reduced, while the gene coding for phenylalanine hydroxylase is totally silent, giving rise to phenylketonuria. Mutant mice also suffer from severe Fanconi syndrome caused by renal proximal tubular dysfunction. The resulting massive urinary glucose loss leads to energy and water wasting. HNF1-deficient mice may provide a model for human renal Fanconi syndrome.

REGULATION

DIAGNOSTIC USE

Comments
2008-03-23T07:32:29 - Gianpiero Pescarmona

ma la domanda è: di cosa è segno HNF? quali aminoacidi, quanto glucoso o ossigeno. Insomma ia quale nicchia corrisponde l'espressione di HNF? ein cosa consiste esattamente la mancata formazione dei tubuli?

Attachments
fileuserdate
HNF1-700.gifgp01/06/2010
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