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Description for Protein MATR3

matrin 3
9 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenses have been defined on chr1 and chrX. (PubMed Links)
Domains and Motifs:
  • RRM: RNA recognition motif
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13213
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    KIAA0723
    Approved Symbol:
    MATR3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 52
    Human (de-) phosphorylation sites: 52; 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 : 0
    • Additional Identifiers:

    HPRD: 05270 Entrez Gene ID: 9782 OMIM ID: 164015 Swissprot Accession: Q68D11; P43243;