“PBRM1”的意思、由来-开放百科全书

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{{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 }}
2. ^{{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 }}
3. ^{{cite web | title = Entrez Gene: PB1 polybromo 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55193| accessdate = }}
4. ^{{cite web | url = https://www.uniprot.org/uniprot/Q86U86 | title = Q86U86 : Protein polybromo-1 (Human) | work = Universal Protein Resource | publisher = UniProt Consortium }}
5. ^{{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}}
6. ^{{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 }}

Further reading

{{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 |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=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 | 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=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=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 | 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=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=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 |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 }}