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Description for Protein LAMB3

laminin, beta 3
5 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • CC: Coiled Coil
  • LAMNT: Laminin N-terminal domain (domain VI)
  • EGFLAM: Laminin-type epidermal growth factor-like domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06244
    KEGG - Pathway(s):
    hsa04510; hsa04512; hsa05200; hsa05222
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Nicein-125kDa; Laminin B3; Laminin 5 beta 3 subunit; Laminin B1K chain; Kalinin B1 chain
    Approved Symbol:
    LAMB3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Epidermolysis bullosa, generalized atrophic benign(Pd);
  • Epidermolysis bullosa, junctional, Herlitz type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01032 Entrez Gene ID: 3914 OMIM ID: 150310 Swissprot Accession: Q13751;