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Description for Protein HFE

hemochromatosis
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 1)
Summary:
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • IGC: Immunoglobulin C-Type
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    HLA-H; Hereditary hemochromatosis protein; Hemochromatosis protein isoform 2; Hemochromatosis protein isoform 11; Hemochromatosis protein isoform 9; Hemochromatosis protein isoform 5; Hemochromatosis protein isoform 7; Hemochromatosis protein isoform 4; Hemochromatosis protein isoform 8; Hemochromatosis protein isoform 3; Hemochromatosis protein isoform 10; HH; HFE1; MGC103790; dJ221C16.10.1; MHC class I-like protein HFE; Hemochromatosis protein isoform 1; Hemochromatosis protein isoform 6
    Approved Symbol:
    HFE
    (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:

  • Hemochromatosis(Pd);
  • HFE intronic polymorphism(Pd);
  • HFE polymorphism(Pd);
  • Porphyria variegata(Pd)
    		• Predicted Transmembrane Domains:
    01993_11(2)
    01993_10(1)
  • Isoform 9 : 1
  • Isoform 8 : 1
  • Isoform 7 : 1
  • Isoform 6 : 1
  • Isoform 5 : 0
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 0
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01993 Entrez Gene ID: 3077 OMIM ID: 235200 Swissprot Accession: Q96KU6; Q30201;