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Description for Protein LEPR

leptin receptor
15 total interacting proteins; 12 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/2)
(platelet: 1; undefined: 1)
Summary:
The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021). (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • FN3: Fibronectin type 3 domain
  • C2: Protein kinase C conserved region 2 (CalB)
  • TM: Transmembrane domain
  • C1: Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05062
    KEGG - Pathway(s):
    hsa04060; hsa04080; hsa04630; hsa04920
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Leptin receptor isoform 3; Leptin receptor isoform 2; Leptin receptor isoform 1
    Approved Symbol:
    LEPR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; 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:

  • Leptin receptor polymorphism(Pd);
  • Obesity, morbid, with hypogonadism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 4
  • Isoform 2 : 4
  • Isoform 1 : 3
    • Additional Identifiers:

    HPRD: 03001 Entrez Gene ID: 3953 OMIM ID: 601007 Swissprot Accession: P48357;