ARID1A
AT-bogati interaktivni protein 1A sa domenom jest protein koji je kod ljudi kodiran genom ARID1A sa hromosoma 1.[5][6][7]
Amiokiselininska sekvenca
urediDužina polipeptidnog lanca je 2.285 aminokiselina, a molekulska težina 242.045 Da.[8]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MAAQVAPAAA | SSLGNPPPPP | PSELKKAEQQ | QREEAGGEAA | AAAAAERGEM | ||||
KAAAGQESEG | PAVGPPQPLG | KELQDGAESN | GGGGGGGAGS | GGGPGAEPDL | ||||
KNSNGNAGPR | PALNNNLTEP | PGGGGGGSSD | GVGAPPHSAA | AALPPPAYGF | ||||
GQPYGRSPSA | VAAAAAAVFH | QQHGGQQSPG | LAALQSGGGG | GLEPYAGPQQ | ||||
NSHDHGFPNH | QYNSYYPNRS | AYPPPAPAYA | LSSPRGGTPG | SGAAAAAGSK | ||||
PPPSSSASAS | SSSSSFAQQR | FGAMGGGGPS | AAGGGTPQPT | ATPTLNQLLT | ||||
SPSSARGYQG | YPGGDYSGGP | QDGGAGKGPA | DMASQCWGAA | AAAAAAAAAS | ||||
GGAQQRSHHA | PMSPGSSGGG | GQPLARTPQP | SSPMDQMGKM | RPQPYGGTNP | ||||
YSQQQGPPSG | PQQGHGYPGQ | PYGSQTPQRY | PMTMQGRAQS | AMGGLSYTQQ | ||||
IPPYGQQGPS | GYGQQGQTPY | YNQQSPHPQQ | QQPPYSQQPP | SQTPHAQPSY | ||||
QQQPQSQPPQ | LQSSQPPYSQ | QPSQPPHQQS | PAPYPSQQST | TQQHPQSQPP | ||||
YSQPQAQSPY | QQQQPQQPAP | STLSQQAAYP | QPQSQQSQQT | AYSQQRFPPP | ||||
QELSQDSFGS | QASSAPSMTS | SKGGQEDMNL | SLQSRPSSLP | DLSGSIDDLP | ||||
MGTEGALSPG | VSTSGISSSQ | GEQSNPAQSP | FSPHTSPHLP | GIRGPSPSPV | ||||
GSPASVAQSR | SGPLSPAAVP | GNQMPPRPPS | GQSDSIMHPS | MNQSSIAQDR | ||||
GYMQRNPQMP | QYSSPQPGSA | LSPRQPSGGQ | IHTGMGSYQQ | NSMGSYGPQG | ||||
GQYGPQGGYP | RQPNYNALPN | ANYPSAGMAG | GINPMGAGGQ | MHGQPGIPPY | ||||
GTLPPGRMSH | ASMGNRPYGP | NMANMPPQVG | SGMCPPPGGM | NRKTQETAVA | ||||
MHVAANSIQN | RPPGYPNMNQ | GGMMGTGPPY | GQGINSMAGM | INPQGPPYSM | ||||
GGTMANNSAG | MAASPEMMGL | GDVKLTPATK | MNNKADGTPK | TESKSKKSSS | ||||
STTTNEKITK | LYELGGEPER | KMWVDRYLAF | TEEKAMGMTN | LPAVGRKPLD | ||||
LYRLYVSVKE | IGGLTQVNKN | KKWRELATNL | NVGTSSSAAS | SLKKQYIQCL | ||||
YAFECKIERG | EDPPPDIFAA | ADSKKSQPKI | QPPSPAGSGS | MQGPQTPQST | ||||
SSSMAEGGDL | KPPTPASTPH | SQIPPLPGMS | RSNSVGIQDA | FNDGSDSTFQ | ||||
KRNSMTPNPG | YQPSMNTSDM | MGRMSYEPNK | DPYGSMRKAP | GSDPFMSSGQ | ||||
GPNGGMGDPY | SRAAGPGLGN | VAMGPRQHYP | YGGPYDRVRT | EPGIGPEGNM | ||||
STGAPQPNLM | PSNPDSGMYS | PSRYPPQQQQ | QQQQRHDSYG | NQFSTQGTPS | ||||
GSPFPSQQTT | MYQQQQQNYK | RPMDGTYGPP | AKRHEGEMYS | VPYSTGQGQP | ||||
QQQQLPPAQP | QPASQQQAAQ | PSPQQDVYNQ | YGNAYPATAT | AATERRPAGG | ||||
PQNQFPFQFG | RDRVSAPPGT | NAQQNMPPQM | MGGPIQASAE | VAQQGTMWQG | ||||
RNDMTYNYAN | RQSTGSAPQG | PAYHGVNRTD | EMLHTDQRAN | HEGSWPSHGT | ||||
RQPPYGPSAP | VPPMTRPPPS | NYQPPPSMQN | HIPQVSSPAP | LPRPMENRTS | ||||
PSKSPFLHSG | MKMQKAGPPV | PASHIAPAPV | QPPMIRRDIT | FPPGSVEATQ | ||||
PVLKQRRRLT | MKDIGTPEAW | RVMMSLKSGL | LAESTWALDT | INILLYDDNS | ||||
IMTFNLSQLP | GLLELLVEYF | RRCLIEIFGI | LKEYEVGDPG | QRTLLDPGRF | ||||
SKVSSPAPME | GGEEEEELLG | PKLEEEEEEE | VVENDEEIAF | SGKDKPASEN | ||||
SEEKLISKFD | KLPVKIVQKN | DPFVVDCSDK | LGRVQEFDSG | LLHWRIGGGD | ||||
TTEHIQTHFE | SKTELLPSRP | HAPCPPAPRK | HVTTAEGTPG | TTDQEGPPPD | ||||
GPPEKRITAT | MDDMLSTRSS | TLTEDGAKSS | EAIKESSKFP | FGISPAQSHR | ||||
NIKILEDEPH | SKDETPLCTL | LDWQDSLAKR | CVCVSNTIRS | LSFVPGNDFE | ||||
MSKHPGLLLI | LGKLILLHHK | HPERKQAPLT | YEKEEEQDQG | VSCNKVEWWW | ||||
DCLEMLRENT | LVTLANISGQ | LDLSPYPESI | CLPVLDGLLH | WAVCPSAEAQ | ||||
DPFSTLGPNA | VLSPQRLVLE | TLSKLSIQDN | NVDLILATPP | FSRLEKLYST | ||||
MVRFLSDRKN | PVCREMAVVL | LANLAQGDSL | AARAIAVQKG | SIGNLLGFLE | ||||
DSLAATQFQQ | SQASLLHMQN | PPFEPTSVDM | MRRAARALLA | LAKVDENHSE | ||||
FTLYESRLLD | ISVSPLMNSL | VSQVICDVLF | LIGQS |
Funkcija
urediARID1A je član porodice SWI/SNF, čiji članovi imaju aktivnosti helikaza i ATPaza i smatra se da regulišu transkripciju određenih gena mijenjajući hromatinsku strukturu oko tih gena. Kodirani protein je dio velikog ATP-ovisnog kompleksa za remodeliranje hromatina SWI/SNF, koji je potreban za transkripcijsku aktivaciju gena koji su normalno potisnuti hromatinom. Ima najmanje dva konzervirana domena koji bi mogli biti važne za njegovu funkciju. Prvo, ima ARID domen, koji je DNK-vezujući domen koji može specifično vezati AT-bogatu DNK sekvencu za koju se zna da je prepoznata putem SWI/SNF kompleksa na beta-globinskom lokusu. Drugo, C-terminal proteina može stimulirati glukokortikoidni receptorski zavisnu aktivaciju transkripcije. Smatra se da protein kodiran ovim genom daje specifičnost kompleksu SWI/SNF i može regrutirati kompleks do svojih ciljeva kroz interakcije protein-DNK ili protein-protein. Za ovaj gen su pronađene dvije varijante transkripta koje kodiraju različite izoforme.[7]
Klinički značaj
urediOvaj gen je obično mutiran u karcinomima želuca,[9] ćelijama raka jajnika,[10] i raka gušterače.[11] U raku dojke udaljene metastaze dobijaju inaktivacijske mutacije u ARID1A koje se ne vide u primarnom tumoru, a smanjena ekspresija ARID1A daje rezistenciju na različite lijekove kao što su trastuzumab i mTOR-inhibitori. Ovi nalazi daju obrazloženje zašto tumori akumuliraju mutacije ARID1A-e.[12][13]
Istraživanje
urediČini se da nedostatak ovog gena/proteina štiti pacove od nekih vrsta oštećenja jetre.[14]
Interakcije
urediPokazalo se da ARID1A ima interakcije sa SMARCB1[15][16] i SMARCA4.[16][17]
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000117713 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007880 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Takeuchi T, Furihata M, Heng HH, Sonobe H, Ohtsuki Y (juni 1998). "Chromosomal mapping and expression of the human B120 gene". Gene. 213 (1–2): 189–93. doi:10.1016/S0378-1119(98)00194-2. PMID 9630625.
- ^ Takeuchi T, Chen BK, Qiu Y, Sonobe H, Ohtsuki Y (decembar 1997). "Molecular cloning and expression of a novel human cDNA containing CAG repeats". Gene. 204 (1–2): 71–7. doi:10.1016/S0378-1119(97)00525-8. PMID 9434167.
- ^ a b "Entrez Gene: ARID1A AT rich interactive domain 1A (SWI-like)".
- ^ "UniProt, O14497" (jezik: engleski). Pristupljeno 21. 11. 2021.
- ^ Wang K, Kan J, Yuen ST, Shi ST, Chu KM, Law S, et al. (oktobar 2011). "Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer". Nature Genetics. 43 (12): 1219–23. doi:10.1038/ng.982. PMID 22037554. S2CID 8884065.
- ^ Wiegand KC, Shah SP, Al-Agha OM, Zhao Y, Tse K, Zeng T, et al. (oktobar 2010). "ARID1A mutations in endometriosis-associated ovarian carcinomas". The New England Journal of Medicine. 363 (16): 1532–43. doi:10.1056/NEJMoa1008433. PMC 2976679. PMID 20942669.
- ^ {{ci te journal | vauthors = Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR | display-authors = 6 | title = Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 109 | issue = 5 | pages = E252-9 | date = januar 2012 | pmid = 22233809 | pmc = 3277150 | doi = 10.1073/pnas.1114817109 | doi-access = free }}
- ^ Berns K, Sonnenblick A, Gennissen A, Brohée S, Hijmans EM, Evers B, et al. (novembar 2016). "Loss of ARID1A Activates ANXA1, which Serves as a Predictive Biomarker for Trastuzumab Resistance". Clinical Cancer Research. 22 (21): 5238–5248. doi:10.1158/1078-0432.CCR-15-2996. PMID 27172896.
- ^ Yates LR, Knappskog S, Wedge D, Farmery JH, Gonzalez S, Martincorena I, et al. (august 2017). "Genomic Evolution of Breast Cancer Metastasis and Relapse". Cancer Cell. 32 (2): 169–184.e7. doi:10.1016/j.ccell.2017.07.005. PMC 5559645. PMID 28810143.
- ^ "Tissue Regeneration Promoted through Gene Suppression". Genetic Engineering & Biotechnology News. mart 2016.
- ^ Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, et al. (februar 2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". The Journal of Biological Chemistry. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. PMID 11734557.
- ^ a b Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, et al. (oktobar 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". The EMBO Journal. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
- ^ Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (novembar 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi:10.1016/S0092-8674(00)81633-5. PMID 9845365. S2CID 3184211.
Dopunska literatura
uredi- Martens JA, Winston F (april 2003). "Recent advances in understanding chromatin remodeling by Swi/Snf complexes". Current Opinion in Genetics & Development. 13 (2): 136–42. doi:10.1016/S0959-437X(03)00022-4. PMID 12672490.
- Maruyama K, Sugano S (januar 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Wang W, Xue Y, Zhou S, Kuo A, Cairns BR, Crabtree GR (septembar 1996). "Diversity and specialization of mammalian SWI/SNF complexes". Genes & Development. 10 (17): 2117–30. doi:10.1101/gad.10.17.2117. PMID 8804307.
- Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, et al. (oktobar 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". The EMBO Journal. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (oktobar 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Dallas PB, Cheney IW, Liao DW, Bowrin V, Byam W, Pacchione S, et al. (juni 1998). "p300/CREB binding protein-related protein p270 is a component of mammalian SWI/SNF complexes". Molecular and Cellular Biology. 18 (6): 3596–603. doi:10.1128/MCB.18.6.3596. PMC 108941. PMID 9584200.
- Dallas PB, Pacchione S, Wilsker D, Bowrin V, Kobayashi R, Moran E (maj 2000). "The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity". Molecular and Cellular Biology. 20 (9): 3137–46. doi:10.1128/MCB.20.9.3137-3146.2000. PMC 85608. PMID 10757798.
- Nie Z, Xue Y, Yang D, Zhou S, Deroo BJ, Archer TK, Wang W (decembar 2000). "A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex". Molecular and Cellular Biology. 20 (23): 8879–88. doi:10.1128/MCB.20.23.8879-8888.2000. PMC 86543. PMID 11073988.
- Takeuchi T, Nicole S, Misaki A, Furihata M, Iwata J, Sonobe H, Ohtsuki Y (februar 2001). "Expression of SMARCF1, a truncated form of SWI1, in neuroblastoma". The American Journal of Pathology. 158 (2): 663–72. doi:10.1016/S0002-9440(10)64008-4. PMC 1850330. PMID 11159203.
- Kozmik Z, Machon O, Králová J, Kreslová J, Paces J, Vlcek C (april 2001). "Characterization of mammalian orthologues of the Drosophila osa gene: cDNA cloning, expression, chromosomal localization, and direct physical interaction with Brahma chromatin-remodeling complex". Genomics. 73 (2): 140–8. doi:10.1006/geno.2001.6477. PMID 11318604.
- Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, et al. (februar 2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". The Journal of Biological Chemistry. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. PMID 11734557.
- 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. S2CID 4391100.
- Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H (maj 2002). "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein". The Biochemical Journal. 364 (Pt 1): 255–64. doi:10.1042/bj3640255. PMC 1222568. PMID 11988099.
- Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N (novembar 2002). "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors". The Journal of Biological Chemistry. 277 (44): 41674–85. doi:10.1074/jbc.M205961200. PMID 12200431.
- Nie Z, Yan Z, Chen EH, Sechi S, Ling C, Zhou S, et al. (april 2003). "Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner". Molecular and Cellular Biology. 23 (8): 2942–52. doi:10.1128/MCB.23.8.2942-2952.2003. PMC 152562. PMID 12665591.
- Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, et al. (juni 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi:10.1016/S0092-8674(03)00436-7. PMID 12837248.
Vanjski linkovi
uredi- ARID1A protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
- Lokacija ljudskog genoma ARID1A i stranica sa detaljima o genu ARID1A u UCSC Genome Browseru.
- O14497
Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.