Tumor suppressor activity of SMARCB1 (Homo sapiens)

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314525TranscriptionChromatin remodeling / transctiptional regulationProliferationApoptosis suppressionRBBP4Canonical Wnt SignalingDPF1PTCH1SMARCC2SMARCB1ARID1ASMARCA4RB1SMARCC1SMOGLI1GLI2GLI3GLI4Hedgehog SignalingSUZ12EEDEZH2Polycomb pathwayH3F3BMeH3F3AMeCell CycleCDKN2ACDK4CDK6G0/G1 transitionACTL6AACTL6BDPF2DPF3SMARCE1SMARCD1SMARCD2SMARCD3ARID1BTranscriptionTranscriptionLegendInactivating mutation


Description

SMARCB1 is a core subunit proteins of the SWI/SNF chromatin remodeling complex, which interact with transcription factors at promoters and enhancers to modulate gene expression. Renal medullary carcinomas have been found to be deficient in SMARCB1 (BAF47) due to mutations. This pathway represents a summary of target genes and pathways implicated in the tumor suppression activity of SMARCB1.

This pathway is modeled after figure 2 of "Oncogenic roles of SMARCB1/INI1 and its deficient tumors" by Kohashi and Oda, https://www.ncbi.nlm.nih.gov/pubmed/28109176. Inactivating mutation of SMARCB1 in renal medullary carcinoma is indicated.

Proteins on this pathway have targeted assays available via the CPTAC Assay Portal

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Quality Tags

Ontology Terms

 

Bibliography

  1. Wang X, Haswell JR, Roberts CW; ''Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer--mechanisms and potential therapeutic insights.''; Clin Cancer Res, 2014 PubMed Europe PMC Scholia
  2. Mora-Blanco EL, Mishina Y, Tillman EJ, Cho YJ, Thom CS, Pomeroy SL, Shao W, Roberts CW; ''Activation of β-catenin/TCF targets following loss of the tumor suppressor SNF5.''; Oncogene, 2014 PubMed Europe PMC Scholia
  3. Kohashi K, Oda Y; ''Oncogenic roles of SMARCB1/INI1 and its deficient tumors.''; Cancer Sci, 2017 PubMed Europe PMC Scholia
  4. Wilson BG, Wang X, Shen X, McKenna ES, Lemieux ME, Cho YJ, Koellhoffer EC, Pomeroy SL, Orkin SH, Roberts CW; ''Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation.''; Cancer Cell, 2010 PubMed Europe PMC Scholia
  5. Jagani Z, Mora-Blanco EL, Sansam CG, McKenna ES, Wilson B, Chen D, Klekota J, Tamayo P, Nguyen PT, Tolstorukov M, Park PJ, Cho YJ, Hsiao K, Buonamici S, Pomeroy SL, Mesirov JP, Ruffner H, Bouwmeester T, Luchansky SJ, Murtie J, Kelleher JF, Warmuth M, Sellers WR, Roberts CW, Dorsch M; ''Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway.''; Nat Med, 2010 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
123410view11:11, 25 July 2022EgonwMade three pathways clickable
108297view17:42, 4 December 2019AgustinGVOntology Term : 'DOID:10923' removed !
108165view10:46, 29 November 2019FehrhartOntology Term : 'cancer pathway' added !
106443view23:33, 28 August 2019KhanspersModified description
105455view05:06, 8 August 2019KhanspersModified description
97134view21:01, 30 April 2018KhanspersModified description
97133view20:59, 30 April 2018Khanspersupdated mutation
95846view21:58, 25 January 2018KhanspersOntology Term : 'renal cell cancer pathway' added !
95820view05:37, 22 January 2018KhanspersOntology Term : 'SWI/SNF family mediated chromatin remodeling pathway' added !
95819view05:37, 22 January 2018KhanspersOntology Term : 'sickle cell anemia' added !
95818view05:36, 22 January 2018KhanspersModified description
95817view05:34, 22 January 2018KhanspersModified title
95816view05:32, 22 January 2018KhanspersOntology Term : 'renal carcinoma' added !
95815view05:31, 22 January 2018KhanspersModified description
95814view05:20, 22 January 2018KhanspersModified description
95813view05:19, 22 January 2018KhanspersModified description
95812view05:15, 22 January 2018KhanspersNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ACTL6AGeneProductENSG00000136518 (Ensembl)
ACTL6BGeneProductENSG00000077080 (Ensembl)
ARID1AGeneProductENSG00000117713 (Ensembl)
ARID1BGeneProductENSG00000049618 (Ensembl)
CDK4GeneProductENSG00000135446 (Ensembl)
CDK6GeneProductENSG00000105810 (Ensembl)
CDKN2AGeneProductENSG00000147889 (Ensembl)
Canonical Wnt SignalingPathwayWP428 (WikiPathways)
Cell CyclePathwayWP179 (WikiPathways)
DPF1GeneProductENSG00000011332 (Ensembl)
DPF2GeneProductENSG00000133884 (Ensembl)
DPF3GeneProductENSG00000205683 (Ensembl)
EEDGeneProductENSG00000074266 (Ensembl)
EZH2GeneProductENSG00000106462 (Ensembl)
GLI1GeneProductENSG00000111087 (Ensembl)
GLI2GeneProductENSG00000074047 (Ensembl)
GLI3GeneProductENSG00000106571 (Ensembl)
GLI4GeneProductENSG00000250571 (Ensembl)
H3F3AGeneProductENSG00000163041 (Ensembl)
H3F3BGeneProductENSG00000132475 (Ensembl)
Hedgehog SignalingPathwayWP4249 (WikiPathways)
PTCH1GeneProductENSG00000185920 (Ensembl)
Polycomb pathwayPathway
RB1GeneProductENSG00000139687 (Ensembl)
RBBP4GeneProductENSG00000162521 (Ensembl)
SMARCA4GeneProductENSG00000127616 (Ensembl)
SMARCB1GeneProductENSG00000099956 (Ensembl)
SMARCC1GeneProductENSG00000173473 (Ensembl)
SMARCC2GeneProductENSG00000139613 (Ensembl)
SMARCD1GeneProductENSG00000066117 (Ensembl)
SMARCD2GeneProductENSG00000108604 (Ensembl)
SMARCD3GeneProductENSG00000082014 (Ensembl)
SMARCE1GeneProductENSG00000073584 (Ensembl)
SMOGeneProductENSG00000128602 (Ensembl)
SUZ12GeneProductENSG00000178691 (Ensembl)

Annotated Interactions

No annotated interactions

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