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Description for Protein MLH1

mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
54 total interacting proteins; 26 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 6)
Summary:
This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined. (PubMed Links)
Domains and Motifs:
None Available

Gene Ontology:
Gene Ontology Annotations

KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K08734
KEGG - Pathway(s):
hsa03430; hsa05200; hsa05210; hsa05213
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
FCC2; COCA2; HNPCC2
Approved Symbol:
MLH1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 7
Human (de-) phosphorylation sites: 7; 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:

  • Colorectal cancer, hereditary nonpolyposis, type 2(Pd);
  • Colorectal cancer, sporadic, susceptibility to(Pd);
  • Muir-torre syndrome(Pd);
  • Turcot syndrome with glioblastoma(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 00390 Entrez Gene ID: 4292 OMIM ID: 120436 Swissprot Accession: P40692Q5GJ64B4DQ11