PBRM1

Polybromo 1

PDB rendering based on 1w4s.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsPBRM1 ; BAF180; PB1
External IDsOMIM: 606083 MGI: 1923998 HomoloGene: 10044 IUPHAR: 2738 ChEMBL: 1795184 GeneCards: PBRM1 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez5519366923
EnsemblENSG00000163939ENSMUSG00000042323
UniProtQ86U86Q8BSQ9
RefSeq (mRNA)NM_018165NM_001081251
RefSeq (protein)NP_060783NP_001074720
Location (UCSC)Chr 3:
52.58 – 52.72 Mb
Chr 14:
31.02 – 31.12 Mb
PubMed search

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.[1][2][3]

Structure and function

Component of the SWI/SNF-B (PBAF) chromatin-remodeling complex, which contains at least SMARCA4/BRG1, SMARCB1/SNF5/INI1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, and actin.[4]

Chicken PB1 possesses 5 bromodomains, 2 bromo-adjacent homology (BAH) domains, and 1 truncated high-mobility group (HMG) motif. cPB1 is also homologous to yeast Rsc1, Rsc2, and Rsc4, essential proteins that are required for cell cycle progression through mitosis.[1]

Clinical significance

PBRM1 is a tumor suppressor gene in many cancer subtypes.[5] Mutations are especially prevalent in clear cell renal cell carcinoma.[6]

References

  1. 1.0 1.1 Xue Y, Canman JC, Lee CS, Nie Z, Yang D, Moreno GT, Young MK, Salmon ED, Wang W (Dec 2000). "The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes". Proc Natl Acad Sci U S A 97 (24): 13015–20. doi:10.1073/pnas.240208597. PMC 27170. PMID 11078522.
  2. Yu Y, Zhang C, Zhou G, Wu S, Qu X, Wei H, Xing G, Dong C, Zhai Y, Wan J, Ouyang S, Li L, Zhang S, Zhou K, Zhang Y, Wu C, He F (Aug 2001). "Gene Expression Profiling in Human Fetal Liver and Identification of Tissue- and Developmental-Stage-Specific Genes through Compiled Expression Profiles and Efficient Cloning of Full-Length cDNAs". Genome Res 11 (8): 1392–403. doi:10.1101/gr.175501. PMC 311073. PMID 11483580.
  3. "Entrez Gene: PB1 polybromo 1".
  4. "Q86U86 : Protein polybromo-1 (Human)". Universal Protein Resource. UniProt Consortium.
  5. Shain, AH; Pollack, JR (2013). "The spectrum of SWI/SNF mutations, ubiquitous in human cancers.". PLoS ONE 8 (1): e55119. doi:10.1371/journal.pone.0055119. PMC 3552954. PMID 23355908.
  6. Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA (January 2011). "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma". Nature 469 (7331): 539–42. doi:10.1038/nature09639. PMC 3030920. PMID 21248752.

Further reading