PBRM1

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PBRM1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PBRM1, BAF180, PB1, polybromo 1
External IDs MGI: 1923998 HomoloGene: 10044 GeneCards: PBRM1
RNA expression pattern
PBB GE PB1 220355 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081251
NM_025847

RefSeq (protein)

NP_001074720

Location (UCSC) Chr 3: 52.55 – 52.69 Mb Chr 14: 31.02 – 31.12 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.[3][4][5]

Structure and function[edit]

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.[6]

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.[3]

Clinical significance[edit]

PBRM1 is a tumor suppressor gene in many cancer subtypes.[7] Mutations are especially prevalent in clear cell renal cell carcinoma.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b 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 27170Freely accessible. PMID 11078522. 
  4. ^ 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 311073Freely accessible. PMID 11483580. 
  5. ^ "Entrez Gene: PB1 polybromo 1". 
  6. ^ "Q86U86 : Protein polybromo-1 (Human)". Universal Protein Resource. UniProt Consortium. 
  7. ^ 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 3552954Freely accessible. PMID 23355908. 
  8. ^ 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 3030920Freely accessible. PMID 21248752. 

Further reading[edit]