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Description for Protein HESX1

HESX homeobox 1
3 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09354
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    RPX; HANF; Rathke pouch homeo box; Homeobox expressed in ES cells 1; hAnf
    Approved Symbol:
    HESX1
    (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:

  • Growth hormone deficiency, HESX1-related(Pd);
  • Pituitary hormone deficiency, combined, HESX1-related(Pd);
  • Sepooptic dysplasia(Pd);
  • Septooptic dysplasia(Pd);
  • Septooptic dysplasia, mild(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03482 Entrez Gene ID: 8820 OMIM ID: 601802 Swissprot Accession: Q9UBX0;