PBRM1

Polybromo 1
PDB rendering based on 1w4s.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2KTB​, 3G0J​, 3HMF​, 3IU5​, 3IU6​, 3K2J​, 3LJW​, 3MB4​, 3TLP​, 4Q0N​, 4Q0O​, 4Y03​
Identifiers
Symbols	PBRM1 ; BAF180; PB1
External IDs	OMIM: 606083 MGI: 1923998 HomoloGene: 10044 ChEMBL: 1795184 GeneCards: PBRM1 Gene
Gene ontology Molecular function • DNA binding • chromatin binding • protein binding Cellular component • nuclear chromosome • kinetochore • BAF-type complex Biological process • placenta development • chromatin remodeling • transcription, DNA-templated • regulation of transcription, DNA-templated • mitotic nuclear division • heart development • negative regulation of cell proliferation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55193	66923
Ensembl	ENSG00000163939	ENSMUSG00000042323
UniProt	Q86U86	Q8BSQ9
RefSeq (mRNA)	NM_018165	NM_001081251
RefSeq (protein)	NP_060783	NP_001074720
Location (UCSC)	Chr 3: 52.55 – 52.69 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. 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

• Martens JA, Winston F (2003). "Recent advances in understanding chromatin remodeling by Swi/Snf complexes". Curr. Opin. Genet. Dev. 13 (2): 136–42. doi:10.1016/S0959-437X(03)00022-4. PMID 12672490.
• Suzuki H, Fukunishi Y, Kagawa I, et al. (2001). "Protein–Protein Interaction Panel Using Mouse Full-Length cDNAs". Genome Res. 11 (10): 1758–65. doi:10.1101/gr.180101. PMC 311163. PMID 11591653.
• Lemon B, Inouye C, King DS, Tjian R (2002). "Selectivity of chromatin-remodelling cofactors for ligand-activated transcription". Nature 414 (6866): 924–8. doi:10.1038/414924a. PMID 11780067.
• Olave I, Wang W, Xue Y, et al. (2002). "Identification of a polymorphic, neuron-specific chromatin remodeling complex". Genes Dev. 16 (19): 2509–17. doi:10.1101/gad.992102. PMC 187451. PMID 12368262.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Horikawa I, Barrett JC (2003). "cDNA cloning of the human polybromo-1 gene on chromosome 3p21". DNA Seq. 13 (4): 211–5. doi:10.1080/1042517021000021590. PMID 12487023.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Sekine I, Sato M, Sunaga N, et al. (2005). "The 3p21 candidate tumor suppressor gene BAF180 is normally expressed in human lung cancer". Oncogene 24 (16): 2735–8. doi:10.1038/sj.onc.1207694. PMID 15735765.
• Yan Z, Cui K, Murray DM, et al. (2005). "PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes". Genes Dev. 19 (14): 1662–7. doi:10.1101/gad.1323805. PMC 1176002. PMID 15985610.
• Tao WA, Wollscheid B, O'Brien R, et al. (2005). "Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry". Nat. Methods 2 (8): 591–8. doi:10.1038/nmeth776. PMID 16094384.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
• Chandrasekaran R, Thompson M (2007). "Polybromo-1-bromodomains bind histone H3 at specific acetyl-lysine positions". Biochem. Biophys. Res. Commun. 355 (3): 661–6. doi:10.1016/j.bbrc.2007.01.193. PMID 17320048.