PBRM1

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.[4][5][6]

PBRM1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3G0J, 3HMF, 3IU5, 3IU6, 3K2J, 3LJW, 3MB4, 3TLP, 4Q0N, 4Q0O, 4Y03, 5IID, 5FH7, 5II1, 5II2, 5FH6, 5FH8
Identifiers
Aliases	PBRM1, BAF180, PB1, polybromo 1
External IDs	OMIM: 606083 MGI: 1923998 HomoloGene: 10044 GeneCards: PBRM1
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.1 Start 52,545,352 bp[1] End 52,685,917 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • chromatin binding • GO:0001948 protein binding • DNA translocase activity Cellular component • nuclear chromosome • cell nucleus • nucleoplasm • RSC-type complex Biological process • regulation of transcription, DNA-templated • transcription, DNA-templated • negative regulation of cell proliferation • GO:0007067 mitotic cell cycle • chromatin remodeling • chromatin organization • nucleosome disassembly • transcription elongation from RNA polymerase II promoter • ATP-dependent chromatin remodeling Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55193	66923
Ensembl	ENSG00000163939	n/a
UniProt	Q86U86	Q8BSQ9
RefSeq (mRNA)	NM_018165 NM_018313 NM_181041 NM_181042 NM_001350074 NM_001350075 NM_001350076 NM_001350077 NM_001350078 NM_001350079 NM_001366070 NM_001366071 NM_001366072 NM_001366073 NM_001366074 NM_001366075 NM_001366076	NM_001081251 NM_025847 NM_001359854 NM_001359855 NM_001359856 NM_001359857 NM_001359858
RefSeq (protein)	NP_060783 NP_851385 NP_001337003 NP_001337004 NP_001337005 NP_001337006 NP_001337007 NP_001337008 NP_001352999 NP_001353000 NP_001353001 NP_001353002 NP_001353003 NP_001353004 NP_001353005	NP_001074720 NP_001346783 NP_001346784 NP_001346785 NP_001346786 NP_001346787
Location (UCSC)	Chr 3: 52.55 – 52.69 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

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.[4]

Clinical significance

PBRM1 is a tumor suppressor gene in many cancer subtypes.[8] Mutations are especially prevalent in clear cell renal cell carcinoma.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000163939 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. 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.
6. "Entrez Gene: PB1 polybromo 1".
7. "Q86U86 : Protein polybromo-1 (Human)". Universal Protein Resource. UniProt Consortium.
8. 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.
9. 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.