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SMARCB1 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal.
CIViC holds 24 clinical evidence items and 4 assertions across 5 variants, naming Tazemetostat and Panobinostat. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.91, affected pathway 0.87, literature 0.99, genetic association 0.85, somatic mutation 0.88, animal model 0.65). IntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Atypical Teratoid/Rhabdoid Tumour, Medulloblastoma, Neuroblastoma, Pancreatic Neuroendocrine Tumour, Pilocytic Astrocytoma.
In plain words · SMARCB1 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
SMARCB1 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation.
No product in this corpus aims at SMARCB1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SMARCB1: RNA low tissue specificity; high antibody staining in 40 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Neuroendocrine tumours, Renal cell carcinoma, Ovarian cancer, Brain and spinal cord tumours (all types)); Open Targets associates it with 6 specific cancer types at or above 0.5 (rhabdoid tumor predisposition syndrome 1, schwannomatosis, SMARCB1-related schwannomatosis, familial rhabdoid tumor, rhabdoid tumor, hereditary neoplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q12824; CIViC gene SMARCB1; IntOGen SMARCB1; Human Protein Atlas SMARCB1 tissue; Open Targets ENSG00000099956 associations
First described 1994. Earliest sequence paper UniProt cites for the protein: Kalpana G.V. et al, Science, 1994, "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5". Source.
Sources: HGNC HGNC:11103 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q12824 (protein name, function text, keywords and locations (REST API)); CIViC gene SMARCB1 (24 evidence items, 4 assertions, 5 variants; diseases: Poorly Differentiated Chordoma, Atypical Teratoid Rhabdoid Tumour, Rhabdoid Cancer, Epithelioid Sarcoma, Cribriform Neuroepithelial Tumour and 4 more (GraphQL API, CC0)); Open Targets ENSG00000099956 (association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: renal cell carcinoma 0.55, ovarian cancer 0.51, sarcoma 0.87 (GraphQL API, CC0)); IntOGen SMARCB1 (driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Location: Nucleus (UniProt). Locus 22q11.23 (HGNC).
RNA: low tissue specificity, detected in many normal tissues.
Medium: Adipose tissue, Breast, Testis.
HPA SMARCB1 tissue · HPA SMARCB1 pathology · HPA protein class: Essential proteins
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"SMARCB1" OR ABSTRACT:"SMARCB1" OR TITLE:"SWI/SNF related BAF chromatin remodeling complex subunit B1" OR ABSTRACT:"SWI/SNF related BAF chromatin remodeling complex subunit B1" OR TITLE:"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1" OR ABSTRACT:"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1" OR TITLE:"BAF47" OR ABSTRACT:"BAF47" OR TITLE:"Ini1" OR ABSTRACT:"Ini1" OR TITLE:"INI-1" OR ABSTRACT:"INI-1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SMARCB1, not a curated reading list.
Shares Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial), SWI/SNF chromatin remodelling, Neuroendocrine tumours, Sarcomas (soft tissue, bone, GIST).
Shares Medulloblastoma, Renal cell carcinoma, CIViC, IntOGen.
Shares Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial), Poorly differentiated chordoma (SMARCB1-deficient), Epithelioid sarcoma, Atypical teratoid/rhabdoid tumour (ATRT).
Shares Medulloblastoma, Sarcomas (soft tissue, bone, GIST), IntOGen, Open Targets Platform.
Shares Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Open Targets Platform.
Shares Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Open Targets Platform.
Shares SWI/SNF chromatin remodelling, CIViC, IntOGen.
Shares Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Open Targets Platform.