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FLASH GENE
Symbol HNF1B contributors: mct/npt/pgu - updated : 20-04-2010
HGNC name HNF1 homeobox B
HGNC id 11630
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal dimerization motif
  • a pseudo POU-domain
  • an homeodomain and a transactivation domain
  • a C-terminal QSP-rich domain
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Tcf2 (97.13 pc)
    homolog to murine Hnf1b (95.50 pc)
    Homologene
    FAMILY
  • HNF1 homeobox family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • activating or inhibiting transcription of target genes depending on the TCF2 isoform
  • having transcription factor activity, liver-specific
  • regulating peptidase dipeptidyl IV (DPP4) - down regulation in MODY5
  • is a transcription factor that plays a role in kidney and pancreas development
  • plays an important role in organogenesis, especially of the urogenital system
  • essential for transcription of sodium-dependent vitamin C transporter protein 1 (SVCT1)
  • may control gene expression via two distinct mechanisms, the maintenance of active transcription from its target promoters and the control of gene expression (concerns the reprogramming of transcription by counterbalancing the silencing effect induced by mitotic chromatin condensation)
  • bookmarking factor that is necessary for reopening the chromatin of target genes after mitotic silencing
  • playing an unique role in the regulation of cAMP signaling
  • novel role of HNF1B as a modifier of the PAX2 haplo-insufficient phenotype and these two transcription factors operate in common pathways governing both kidney morphogenesis and ureter differentiation
  • NUDT11, SLC22A3, HNF1b contribute to prostate cancer pathogenesis
  • transcription factor known to be involved in ureteric bud branching and initiation of nephrogenesis, has an additional role in segment fate acquisition
  • required for the acquisition of a proximo-intermediate segment fate, thus uncovering a previously unappreciated function of a novel regionalised S-shaped body (SSB) subcompartment in global nephron segmentation and further differentiation
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimerizing or heterodimerizing with HNF1A
    • INTERACTION
    DNA binding to the inverted palindrome 5'-GTTAATNATTAAC-3'
    RNA
    small molecule
    protein
  • inhibiting PKHD1, to produce kidney cysts
  • target of dipeptidyl peptidase 4 (DPP4), angiotensin converting enzyme 2 (ACE2) and osteopontin (SPP1)
  • interacting with SLC23A1(HNF-1alpha and/or HNF-1beta binding is required for its expression and may be involved in the coordinate regulation of whole body vitamin C status)
  • PDE4C is a potential HNF1B target gene (HNF1B directly regulates PDE4C gene transcription)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RCAD , MODY5 , DEL17Q12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in chromophobe renal cell cancer through PKHD1 expression control
    tumoral     --over  
    in clear cell carcinoma of the ovary
    constitutional   deletion    
    leading to haploinsufficiency and affecting a diverse spectrum of CAKUT (congenital anomalies of the kidney and urinary tract)
    Susceptibility to prostate cancer
    Variant & Polymorphism SNP two independent prostate cancer risk loci
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • heterozygous mice for Hnf1b and Pax2 null alleles display phenotypes similar to severe congenital anomalies of the kidney and the urinary tract (CAKUT), including strong hypoplasia of the kidneys, caudal ectopic aborted ureter buds, duplex kidneys, megaureters and hydronephrosis