| 1 | DHBPA, FLHS, SRCAP
|
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature PMID:
|
| Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R.
|
| Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. 2021
|
| 2 | SRCAP
|
| The SRCAP chromatin remodeling complex promotes oxidative metabolism during prenatal heart development.
|
| Xu M, Yao J, Shi Y, Yi H, Zhao W, Lin X, Yang Z.
|
| Development. Apr 15;148(8):dev199026. doi: 10.1242/dev.199026. Epub 2021 Apr 16. 2021
|
| 3 | PRDM16, REST, SRCAP
|
| The chromatin remodeler SRCAP promotes self-renewal of intestinal stem cells.
|
| Ye B, Yang L, Qian G, Liu B, Zhu X, Zhu P, Ma J, Xie W, Li H, Lu T, Wang Y, Wang S, Du Y, Wang Z, Jiang J, Li J, Fan D, Meng S, Wu J, Tian Y, Fan Z.
|
| EMBO J. Jul 1;39(13):e103786. doi: 10.15252/embj.2019103786. Epub 2020 May 25 2020
|
| 4 | FLHS, H2AZ1, SRCAP
|
| Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome
|
| Greenberg RS, Long HK, Swigut T, Wysocka J.
|
| Cell. Sep 5;178(6):1421-1436.e24. doi: 10.1016/j.cell.2019.08.002. 2019
|
| 5 | PCID2, SRCAP
|
| Suppression of SRCAP chromatin remodelling complex and restriction of lymphoid lineage commitment by Pcid2
|
| Ye B, Liu B, Yang L, Huang G, Hao L, Xia P, Wang S, Du Y, Qin X, Zhu P, Wu J, Sakaguchi N, Zhang J, Fan Z.
|
| Nat Commun. Nov 15;8(1):1518. doi: 10.1038/s41467-017-01788-7. 2017
|
| 6 | FLHS, SRCAP
|
| When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.
|
| Messina G, Atterrato MT, Dimitri P.
|
| J Med Genet. Dec;53(12):793-797. doi: 10.1136/jmedgenet-2016-103842. Epub 2016 Apr 26. 2016
|
| 7 | SRCAP
|
| The human SRCAP chromatin remodeling complex promotes DNA-end resection.
|
| Dong S, Han J, Chen H, Liu T, Huen MSY, Yang Y, Guo C, Huang J.
|
| Curr Biol. Sep 22;24(18):2097-2110. doi: 10.1016/j.cub.2014.07.081. Epub 2014 Aug 28. 2014
|
| 8 | FLHS, SRCAP
|
| 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.
|
| Gerundino F, Marseglia G, Pescucci C, Pelo E, Benelli M, Giachini C, Federighi B, Antonelli C, Torricelli F.
|
| Eur J Med Genet. Nov-Dec;57(11-12):649-53. doi: 10.1016/j.ejmg.2014.09.009 2014
|
| 9 | FLHS, SRCAP
|
| Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
|
| Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V.
|
| Hum Mutat 34(1):88-92. doi: 10.1002/humu.22216. Epub 2012 Oct 16.
2013
|
| 10 | FLHS, SRCAP
|
| Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome.
|
| Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM.
|
| Am J Hum Genet 90(2):308-13. Epub 2012 Jan 19.
2012
|
| 11 | SRCAP
|
| Hepatitis C virus NS3 protein can activate the Notch-signaling pathway through binding to a transcription factor, SRCAP.
|
| Iwai A, Takegami T, Shiozaki T, Miyazaki T.
|
| PLoS One 6(6):e20718. Epub 2011 Jun 6.
2011
|
| 12 | SRCAP
|
| The chromatin remodeling factor SRCAP modulates expression of prostate specific antigen and cellular proliferation in prostate cancer cells.
|
| Slupianek A, Yerrum S, Safadi FF, Monroy MA.
|
| J Cell Physiol 224(2):369-75.
2010
|
| 13 | H2AFZ, SRCAP
|
| N terminus of Swr1 binds to histone H2AZ and provides a platform for subunit assembly in the chromatin remodeling complex.
|
| Wu WH, Wu CH, Ladurner A, Mizuguchi G, Wei D, Xiao H, Luk E, Ranjan A, Wu C.
|
| J Biol Chem 284(10):6200-7. Epub 2008 Dec 16.
2009
|
| 14 | H2AFZ, SRCAP
|
| The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters.
|
| Wong MM, Cox LK, Chrivia JC.
|
| J Biol Chem 282(36):26132-9. Epub 2007 Jul 8.
2007
|
| 15 | SRCAP
|
| Purification of a human SRCAP complex that remodels chromatin by incorporating the histone variant H2A.Z into nucleosomes.
|
| Ruhl DD, Jin J, Cai Y, Swanson S, Florens L, Washburn MP, Conaway RC, Conaway JW, Chrivia JC.
|
| Biochemistry 45(17):5671-7. 2006
|
| 16 | KAT5, MRGBP, SRCAP, TRRAP, VPS72
|
| The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60 histone acetyltransferase and SRCAP complexes.
|
| Cai Y, Jin J, Florens L, Swanson SK, Kusch T, Li B, Workman JL, Washburn MP, Conaway RC, Conaway JW.
|
| J Biol Chem 280(14):13665-70. Epub 2005 Jan 11. 2005
|
| 17 | SRCAP
|
| Human SRCAP and Drosophila melanogaster DOM are homologs that function in the notch signaling pathway.
|
| Eissenberg JC, Wong M, Chrivia JC.
|
| Mol Cell Biol 25(15):6559-69. 2005
|
| 18 | SRCAP, NCOA2, CARM1
|
| SNF2-related CBP activator protein (SRCAP) functions as a coactivator of steroid receptor-mediated transcription through synergistic interactions with CARM-1 and GRIP-1.
|
| Monroy MA, Schott NM, Cox L, Chen JD, Ruh M, Chrivia JC.
|
| Mol Endocrinol 17(12):2519-28. Epub 2003 Sep 18. 2003
|
| 19 | SRCAP
|
| Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein.
|
| Johnston H, Kneer J, Chackalaparampil I, Yaciuk P, Chrivia J.
|
| J Biol Chem 274(23):16370-6. 1999
|
| 20 | ADAMTS3, AKAP6, ALMS1, ANKRD28, AREL1, ARHGEF10, ARHGEF11, ARHGEF17, ARNT2, BAZ2A, CABIN1, CAST, CHD9, CIC, CLEC16A, CLOCK, CTNND1, DCLK1, DDX46, DIDO1, DNAH9, DNM3, DOCK3, DYNC1H1, ECM29, ENTPD4, EPB41L1, EZH1, FRMPD4, GCC2, HECW1, HERC2, HISPPD1, HUWE1, IGSF1, KAT6B, KHNYN, KIAA0319, KIAA0355, KIAA0379, KIF3B, KMT2B, LBA1, MADD, MAST4, MCF2L, MDN1, MTMR3, MYO6, N4BP3, NACAD, NRCAM, PCDH9, PCDHGA8, PCDHGC3, PDZD2, PER2, PFAS, PLEKHM1, PLXNB2, PRORP, PRUNE2, PTPRN2, RAPGEF2, RIMBP2, RIMS1, RIPOR2, RUSC2, SALL2, SEC16A, SEMA3C, SEMA3E, SETD1A, SFRS14, SNPH, SPECC1L, SPTBN2, SR140, SRCAP, SRRM2, SYNJ2, TECPR2, TLN2, TRIM66, TTC37, UBR2, WNK1, XPO6, ZBTB39, ZBTB5, ZFYVE16, ZFYVE26, ZMYM3, ZNF518A, ZNF609, ZNF629, ZNF646
|
| Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
|
| Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
|
| DNA Res 4(2):141-50. 1997
|