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Description for Protein NHLRC1

NHL repeat containing 1
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2). (PubMed Links)
Domains and Motifs:
  • RING: Ring finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10602
    KEGG - Pathway(s):
    hsa04120
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    EPM2A; EPM2B; NHL repeat containing 1
    Approved Symbol:
    NHLRC1
    (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:

  • Epilepsy, progressive myoclonic 2b(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06995 Entrez Gene ID: 378884 OMIM ID: 608072 Swissprot Accession: Q6VVB1;