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Description for Protein HNF1B

HNF1 homeobox B
5 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08034
    KEGG - Pathway(s):
    hsa04950
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    HNF2; HNF1B; VHNF1; HNF-1-beta; Homeoprotein LFB3; Hepatocyte nuclear factor 2; Hepatic nuclear factor-1-beta; Variant hepatic nuclear factor 1; Transcription factor, liver-specific; LFB3; MODY5; Transcription factor 2 isoform a; Transcription factor 2 isoform b
    Approved Symbol:
    HNF1B
    (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):

    None Available


    Associated Genetic Diseases:

  • Diabetes mellitus, noninsulin-dependent(Pd);
  • Renal cysts and diabetes syndrome(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 08926 Entrez Gene ID: 6928 OMIM ID: 189907 Swissprot Accession: P35680Q6FHW6