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Description for Protein HNF1A

HNF1 homeobox A
31 total interacting proteins; 12 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08036
    KEGG - Pathway(s):
    hsa04950
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Hepatic nuclear factor; HNF1; TCF-1; HNF1A; Albumin proximal factor; Hepatic nuclear factor 1
    Approved Symbol:
    HNF1A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Norleucine(db)

    Associated Genetic Diseases:

  • Diabetes mellitus, type II, susceptibility to(Pd);
  • Hepatic adenoma(Pd);
  • Insulin resistance, susceptibility to(Pd);
  • Insulin-dependent diabetes mellitus(Pd);
  • Maturity-onset diabetes of the young, type III(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00800 Entrez Gene ID: 6927 OMIM ID: 142410 Swissprot Accession: P20823;