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Description for Protein MLH3

mutL homolog 3 (E. coli)
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • WW: Domain with 2 conserved Trp (W) residues
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08739
    KEGG - Pathway(s):
    hsa03430
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    HNPCC; HNPCC7; S240II117; MutL homolog 3 isoform 1; MutL homolog 3 isoform 2
    Approved Symbol:
    MLH3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Colon cancer, hereditary nonpolyposis, type 7(Pd);
  • Colorectal cancer, somatic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05094 Entrez Gene ID: 27030 OMIM ID: 604395 Swissprot Accession: Q2M1Z1; Q9UHC1;