PBRM1: Difference between revisions
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{{ | '''Protein polybromo-1''' (PB1) also known as BRG1-associated factor 180 (BAF180) is a [[protein]] that in humans is encoded by the ''PBRM1'' [[gene]].<ref name="pmid11078522">{{cite journal |vauthors=Xue Y, Canman JC, Lee CS, Nie Z, Yang D, Moreno GT, Young MK, Salmon ED, Wang W | title = The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes | journal = Proc Natl Acad Sci U S A | volume = 97 | issue = 24 | pages = 13015–20 |date=Dec 2000 | pmid = 11078522 | pmc = 27170 | doi = 10.1073/pnas.240208597 }}</ref><ref name="pmid11483580">{{cite journal |vauthors=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 | title = 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 | journal = Genome Res | volume = 11 | issue = 8 | pages = 1392–403 |date=Aug 2001 | pmid = 11483580 | pmc = 311073 | doi = 10.1101/gr.175501 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PB1 polybromo 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55193| accessdate = }}</ref> | ||
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== 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]].<ref name="urlProtein polybromo-1 - Homo sapiens (Human)">{{cite web | url = https://www.uniprot.org/uniprot/Q86U86 | title = Q86U86 : Protein polybromo-1 (Human) | work = Universal Protein Resource | publisher = UniProt Consortium }}</ref> | ||
{{ | |||
| | Chicken PB1 possesses 5 [[bromodomain]]s, 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]].<ref name="pmid11078522"/> | ||
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}} | == Clinical significance == | ||
PBRM1 is a [[tumor suppressor gene]] in many cancer subtypes.<ref>{{cite journal|last=Shain|first=AH|author2=Pollack, JR|title=The spectrum of SWI/SNF mutations, ubiquitous in human cancers.|journal=PLoS ONE|year=2013|volume=8|issue=1|pages=e55119|pmid=23355908|doi=10.1371/journal.pone.0055119|pmc=3552954}}</ref> Mutations are especially prevalent in [[clear cell renal cell carcinoma]].<ref name="pmid21248752">{{cite journal |vauthors=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 | title = Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma | journal = Nature | volume = 469 | issue = 7331 | pages = 539–42 |date=January 2011 | pmid = 21248752 | doi = 10.1038/nature09639 | pmc = 3030920 }}</ref> | |||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{cite journal |vauthors=Martens JA, Winston F |title=Recent advances in understanding chromatin remodeling by Swi/Snf complexes |journal=Curr. Opin. Genet. Dev. |volume=13 |issue= 2 |pages= 136–42 |year= 2003 |pmid= 12672490 |doi=10.1016/S0959-437X(03)00022-4 }} | |||
*{{cite journal | author=Suzuki H |title=Protein–Protein Interaction Panel Using Mouse Full-Length cDNAs |journal=Genome Res. |volume=11 |issue= 10 |pages= 1758–65 |year= 2001 |pmid= 11591653 |doi= 10.1101/gr.180101 | pmc=311163 |name-list-format=vanc| author2=Fukunishi Y | author3=Kagawa I | display-authors=3 | last4=Saito | first4=R | last5=Oda | first5=H | last6=Endo | first6=T | last7=Kondo | first7=S | last8=Bono | first8=H | last9=Okazaki | first9=Y }} | |||
*{{cite journal | | *{{cite journal |vauthors=Lemon B, Inouye C, King DS, Tjian R |title=Selectivity of chromatin-remodelling cofactors for ligand-activated transcription |journal=Nature |volume=414 |issue= 6866 |pages= 924–8 |year= 2002 |pmid= 11780067 |doi= 10.1038/414924a }} | ||
*{{cite journal | author= | *{{cite journal | author=Olave I |title=Identification of a polymorphic, neuron-specific chromatin remodeling complex |journal=Genes Dev. |volume=16 |issue= 19 |pages= 2509–17 |year= 2002 |pmid= 12368262 |doi= 10.1101/gad.992102 | pmc=187451 |name-list-format=vanc| author2=Wang W | author3=Xue Y | display-authors=3 | last4=Kuo | first4=A | last5=Crabtree | first5=GR }} | ||
*{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }} | |||
*{{cite journal |vauthors=Horikawa I, Barrett JC |title=cDNA cloning of the human polybromo-1 gene on chromosome 3p21 |journal=DNA Seq. |volume=13 |issue= 4 |pages= 211–5 |year= 2003 |pmid= 12487023 |doi= 10.1080/1042517021000021590}} | |||
*{{cite journal | | *{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }} | ||
*{{cite journal | author=Olave I | *{{cite journal | author=Sekine I |title=The 3p21 candidate tumor suppressor gene BAF180 is normally expressed in human lung cancer |journal=Oncogene |volume=24 |issue= 16 |pages= 2735–8 |year= 2005 |pmid= 15735765 |doi= 10.1038/sj.onc.1207694 |name-list-format=vanc| author2=Sato M | author3=Sunaga N | display-authors=3 | last4=Toyooka | first4=Shinichi | last5=Peyton | first5=Michael | last6=Parsons | first6=Ramon | last7=Wang | first7=Weidong | last8=Gazdar | first8=Adi F | last9=Minna | first9=John D }} | ||
*{{cite journal | author=Strausberg RL | *{{cite journal | author=Yan Z |title=PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes |journal=Genes Dev. |volume=19 |issue= 14 |pages= 1662–7 |year= 2005 |pmid= 15985610 |doi= 10.1101/gad.1323805 | pmc=1176002 |name-list-format=vanc| author2=Cui K | author3=Murray DM | display-authors=3 | last4=Ling | first4=C | last5=Xue | first5=Y | last6=Gerstein | first6=A | last7=Parsons | first7=R | last8=Zhao | first8=K | last9=Wang | first9=W }} | ||
*{{cite journal | | *{{cite journal | author=Tao WA |title=Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry |journal=Nat. Methods |volume=2 |issue= 8 |pages= 591–8 |year= 2005 |pmid= 16094384 |doi= 10.1038/nmeth776 |name-list-format=vanc| author2=Wollscheid B | author3=O'Brien R | display-authors=3 | last4=Eng | first4=Jimmy K | last5=Li | first5=Xiao-jun | last6=Bodenmiller | first6=Bernd | last7=Watts | first7=Julian D | last8=Hood | first8=Leroy | last9=Aebersold | first9=Ruedi }} | ||
*{{cite journal | author=Ota T | *{{cite journal | author=Beausoleil SA |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 |name-list-format=vanc| author2=Villén J | author3=Gerber SA | display-authors=3 | last4=Rush | first4=John | last5=Gygi | first5=Steven P }} | ||
*{{cite journal | author=Sekine I | *{{cite journal | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |name-list-format=vanc| author2=Blagoev B | author3=Gnad F | display-authors=3 | last4=Macek | first4=Boris | last5=Kumar | first5=Chanchal | last6=Mortensen | first6=Peter | last7=Mann | first7=Matthias }} | ||
*{{cite journal | author=Yan Z | *{{cite journal |vauthors=Chandrasekaran R, Thompson M |title=Polybromo-1-bromodomains bind histone H3 at specific acetyl-lysine positions |journal=Biochem. Biophys. Res. Commun. |volume=355 |issue= 3 |pages= 661–6 |year= 2007 |pmid= 17320048 |doi= 10.1016/j.bbrc.2007.01.193 }} | ||
*{{cite journal | author=Tao WA | |||
*{{cite journal | author=Beausoleil SA | |||
*{{cite journal | author=Olsen JV | |||
*{{cite journal | | |||
}} | |||
{{refend}} | {{refend}} | ||
{{PDB Gallery|geneid=55193}} | |||
{{ | {{gene-3-stub}} | ||
Latest revision as of 06:53, 23 March 2018
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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UniProt |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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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
- ↑ 1.0 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.
- ↑ 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.
- ↑ "Entrez Gene: PB1 polybromo 1".
- ↑ "Q86U86 : Protein polybromo-1 (Human)". Universal Protein Resource. UniProt Consortium.
- ↑ 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.
- ↑ 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.
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