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FLASH GENE
Symbol HNF1A contributors: mct/pgu - updated : 04-09-2015
HGNC name HNF1 homeobox A
HGNC id 11621
Corresponding disease
IDDM16 diabetes mellitus insulin-dependent 16
MODY3 maturity onset diabetes of the young, type III
Location 12q24.31      Physical location : 121.416.548 - 121.440.312
Synonym name
  • transcription factor 1, hepatic
  • LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor
  • hepatocyte nuclear factor 1 alpha, LF-B1
  • interferon production regulator factor (HNF1)
  • hepatic nuclear factor-1-alpha
  • liver-specific transcription factor LF-B1
  • transcription factor 1
  • Synonym symbol(s) APF, LFB1, HNF1, TCF1, HNF1alpha, IDDM20, MODY3, TCF-1
    DNA
    TYPE functioning gene
    STRUCTURE 23.76 kb     10 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • several alternative forms for several exons
  • NKX6.1 binds to a cis-regulatory element in the HNF1A promoter and is a major regulator of this gene in beta cells
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text at least seven alternatively spliced form resulting in products with significantly C terminal peptide region
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - polyA site - - 572 predominant transcript in pancreas 2006 16760222
  • a 7 exons variant
  • also called HNF1A(B)
  • 10 - 3241 67.36 631 major transcript in fetal pancreas, major isomer in liver and kidney but not in adult pancreas and islets 2006 16760222
  • a 10 exons variant
  • the lowest transactivation activity compared with the truncated isoforms HNF1A(B) and HNF1A(C)
  • also called HNF1A(A)
  • - polyA site - - 524 - 2006 16760222
  • a 6 exons variant
  • also called HNF1A(C)
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   highly
     liver   highly
    Endocrinepancreasislet of Langerhans  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal dimerization domain (A), a region related to the POU-specific A-box (B)
  • a divergent long homeo domain DNA binding domain (C)
  • a C terminal high mobility group (HMG) domain
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Tcf1 (94.90 pc)
    homolog to murine Hnf1a (95.06 pc)
    Homologene
    FAMILY
  • HNF1 homeobox family
  • CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • having a transactivation activity and involved in tissue-specific regulation of liver genes, essential regulator of bile acid and HDL cholesterol metabolism
  • essential for insulin gene transcription
  • regulating peptidase dipeptidyl IV (DPP4) - down regulation in MODY3
  • regulator of multiple genes involved in pancreatic beta cell function
  • regulating gene activity and chromatin structure of the PI cluster
  • key regulator of development and function in pancreatic beta cells and is specifically involved in regulation of glycolysis and glucose-stimulated insulin secretion
  • transcription factor vital for correct beta-cell development and function, to show that HNF1A is required for XBP1 transcription and maintenance of the normal ER stress response
  • is not only important for hepatocyte differentiation, but has also a role in the maintenance of epithelial phenotype in hepatocytes
  • CELLULAR PROCESS nucleotide, transcription, elongation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimerizing or heterodimerizing with TCF2
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • coexpressed with HNF4A (see also RGHE) in liver
  • coactivating the human lactase-phlorizin hydrolase promoter
  • 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)
  • interacting with NKX6-1 (binds to a cis-regulatory element in the HNF1A promoter and is a major regulator of this gene in pancreatic beta cells
  • can bind to the NPC1L1 promoter
  • directly regulates the expression of CLCN5 in the renal proximal tubule and yield insights into the mechanisms governing epithelial differentiation and specialized transport activities in the kidney
  • HNF1A regulates MAFA in beta-cells, suggesting that compromised MAFA expression contributes to beta-cell dysfunction in maturity onset diabetes of the young
  • interacting with SIRT1 (SIRT1 plays a vital role in the regulation of hepatic bile acid homeostasis through the HNF1A/NR1H4 signaling pathway)
  • YWHAZ may be an endogenous physiologic regulator of HNF1A
  • HNF1A regulates SLC22A1 transcription and contributes to the strong, liver-specific expression of SLC22A1
  • MACF1 promotes osteoblast differentiation by promoting CTNNB1/HNF1A/RUNX2 signaling axis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MODY3 , IDDM16
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    and mutated in hepatic adenomas or hepatocellular carcinoma
    tumoral germinal mutation      
    in chromophobe renal cell carcinoma
    Susceptibility to non insulin dependent diabetes
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS