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Description for Protein DLK1

delta-like 1 homolog (Drosophila)
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes a transmembrane protein containing six epidermal growth factor repeats. The protein is involved in the differentiation of several cell types, including adipocytes; it is also thought to be a tumor suppressor. It is one of several imprinted genes located in a region of on chr 14q32. Certain mutations in this imprinted region can cause phenotypes similar to maternal and paternal uniparental disomy of chromosome 14 (UPD14). This gene is expressed from the paternal allele. A polymorphism within this gene has been associated with child and adolescent obesity. The mode of inheritance for this polymorphism is polar overdominance; this non-Mendelian inheritance pattern was first described in sheep with the callipyge phenotype, which is characterized by muscle hypertrophy and decreased fat mass. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • EGFCA: Calcium-binding EGF-like domain
  • EGF: Epidermal growth factor-like domain.
  • 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:
    Delta like protein; Fetal antigen 1; PREF1; FA1; pG2; DLK
    Approved Symbol:
    DLK1
    (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:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01446 Entrez Gene ID: 8788 OMIM ID: 176290 Swissprot Accession: Q969Y6; P80370;