ARID1A Identifikatori Aliasi ARID1A Vanjski ID-jevi OMIM : 603024 MGI : 1935147 HomoloGene : 21216 GeneCards : ARID1A Ontologija gena Molekularna funkcija • vezivanje sa DNK • GO:0001105 transcription coactivator activity • GO:0001948, GO:0016582 vezivanje za proteine • nuclear receptor binding • nucleosome binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Ćelijska komponenta • nBAF complex • SWI/SNF complex • nukleoplazma • npBAF complex • jedro • SWI/SNF superfamily-type complex • brahma complex Biološki proces • androgen receptor signaling pathway • chromatin remodeling • GO:0009373 regulation of transcription, DNA-templated • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II • cardiac muscle cell differentiation • optic cup formation involved in camera-type eye development • placenta blood vessel development • GO:1901227 negative regulation of transcription by RNA polymerase II • toxin transport • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization • transcription, DNA-templated • nervous system development • cardiac chamber development • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • neural tube closure • nucleosome disassembly • forebrain development • intracellular estrogen receptor signaling pathway • glucocorticoid receptor signaling pathway • formation of primary germ layer • Gastrulacija • embryo implantation • stem cell population maintenance Izvori:Amigo / QuickGO
Ortolozi Vrste Čovjek Miš Entrez Ensembl UniProt RefSeq (mRNK) RefSeq (bjelančevina) Lokacija (UCSC) Chr 1: 26.69 – 26.78 Mb Chr 4: 133.68 – 133.76 Mb PubMed pretraga[ 3] [ 4] Wikipodaci
AT-bogati interaktivni protein 1A sa domenom jest protein koji je kod ljudi kodiran genom ARID1A sa hromosoma 1 .[ 5] [ 6] [ 7]
Dužina 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
ARID1A 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]
Ovaj 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]
Čini se da nedostatak ovog gena/proteina štiti pacove od nekih vrsta oštećenja jetre.[ 14]
Pokazalo se da ARID1A ima interakcije sa SMARCB1 [ 15] [ 16] i SMARCA4 .[ 16] [ 17]
^ 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 .
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 .
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(1) Basic domains
(1.1) Osnovni leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Grupa C bHLH-PAS Grupa D Grupa E Grupa F bHLH-COE
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2) Cinkov prst DNA-binding domains
(2.1) Nuclear receptor (Cys4 )
potporodica 1 potporodica 2 potporodica 3 potporodica 4 potporodica 5 potporodica 6 potporodica 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država , koji je u javnom vlasništvu .