Hepatocyte Nuclear Factor-1-Alpha - HNF1a
Hepatocyte Nuclear Factor-1-Alpha
Hepatocyte Nuclear Factor-1-Beta - 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
