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Description for Protein IHH

Indian hedgehog
3 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the hedgehog family of secreted signaling molecules. Hedgehog proteins are essential regulators of a variety of developmental processes including growth, patterning and morphogenesis. The encoded protein specifically plays a role in bone growth an differentiation. Mutations in this gene are the cause of brachydactyly type A1 which is characterized by shortening or malformation of the phalanges. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K11989
    KEGG - Pathway(s):
    hsa04340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    BDA1; HHG2
    Approved Symbol:
    IHH
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Acrocapitofemoral dysplasia(Pd);
  • Brachydactyly, type A1(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 1
  • Additional Identifiers:

    HPRD: 02839 Entrez Gene ID: 3549 OMIM ID: 600726 Swissprot Accession: Q14623