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Description for Protein SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
53 total interacting proteins; 20 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K11648
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Integrase interactor 1; INI1; Malignant rhabdoid tumor suppressor; BAF47; RDT; SNF5; Snr1; Sfh1p; SNF5L1; HSNFS; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 isoform a; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 isoform b; Sucrose nonfermenting, homolog-like 1
Approved Symbol:
SMARCB1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; 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:

  • Brain tumor, posterior fossa, of infancy, familial(Pd);
  • Malignant rhabdoid tumor(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03364 Entrez Gene ID: 6598 OMIM ID: 601607 Swissprot Accession: Q17S11; Q12824; Q9H836;