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Description for Protein BLM

Bloom syndrome, RecQ helicase-like
35 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HRDC: Helicase and RNase D C-terminal
  • CC: Coiled Coil
  • DEXDc: DEAD-like helicases superfamily
  • HELIC: helicase superfamily c-terminal domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.1.-
    KEGG - Orthology:
    K10901
    KEGG - Pathway(s):
    hsa03440
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    RECQL3; DNA helicase, RecQ like, type 2; Bloom`s syndrome protein; RECQ2; BS; RECQL2
    Approved Symbol:
    BLM
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 45
    Human (de-) phosphorylation sites: 45; 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:

  • Bloom syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05211 Entrez Gene ID: 641 OMIM ID: 604610 Swissprot Accession: P54132;