Sequence of CBP_HUMAN

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
histone acetyltransferase
Q92793
Homo sapiens
2442
265351
Reaction
acetyl-CoA + [protein]-L-lysine = CoA + [protein]-N6-acetyl-L-lysine
Sequences with same EC No.
Sequence
show sequence in fasta format
   0 MAENLLDGPP NPKRAKLSSP GFSANDSTDF GSLFDLENDL PDELIPNGGE LGLLNSGNLV
  60 PDAASKHKQL SELLRGGSGS SINPGIGNVS ASSPVQQGLG GQAQGQPNSA NMASLSAMGK
 120 SPLSQGDSSA PSLPKQAAST SGPTPAASQA LNPQAQKQVG LATSSPATSQ TGPGICMNAN
 180 FNQTHPGLLN SNSGHSLINQ ASQGQAQVMN GSLGAAGRGR GAGMPYPTPA MQGASSSVLA
 240 ETLTQVSPQM TGHAGLNTAQ AGGMAKMGIT GNTSPFGQPF SQAGGQPMGA TGVNPQLASK
 300 QSMVNSLPTF PTDIKNTSVT NVPNMSQMQT SVGIVPTQAI ATGPTADPEK RKLIQQQLVL
 360 LLHAHKCQRR EQANGEVRAC SLPHCRTMKN VLNHMTHCQA GKACQVAHCA SSRQIISHWK
 420 NCTRHDCPVC LPLKNASDKR NQQTILGSPA SGIQNTIGSV GTGQQNATSL SNPNPIDPSS
 480 MQRAYAALGL PYMNQPQTQL QPQVPGQQPA QPQTHQQMRT LNPLGNNPMN IPAGGITTDQ
 540 QPPNLISESA LPTSLGATNP LMNDGSNSGN IGTLSTIPTA APPSSTGVRK GWHEHVTQDL
 600 RSHLVHKLVQ AIFPTPDPAA LKDRRMENLV AYAKKVEGDM YESANSRDEY YHLLAEKIYK
 660 IQKELEEKRR SRLHKQGILG NQPALPAPGA QPPVIPQAQP VRPPNGPLSL PVNRMQVSQG
 720 MNSFNPMSLG NVQLPQAPMG PRAASPMNHS VQMNSMGSVP GMAISPSRMP QPPNMMGAHT
 780 NNMMAQAPAQ SQFLPQNQFP SSSGAMSVGM GQPPAQTGVS QGQVPGAALP NPLNMLGPQA
 840 SQLPCPPVTQ SPLHPTPPPA STAAGMPSLQ HTTPPGMTPP QPAAPTQPST PVSSSGQTPT
 900 PTPGSVPSAT QTQSTPTVQA AAQAQVTPQP QTPVQPPSVA TPQSSQQQPT PVHAQPPGTP
 960 LSQAAASIDN RVPTPSSVAS AETNSQQPGP DVPVLEMKTE TQAEDTEPDP GESKGEPRSE
1020 MMEEDLQGAS QVKEETDIAE QKSEPMEVDE KKPEVKVEVK EEEESSSNGT ASQSTSPSQP
1080 RKKIFKPEEL RQALMPTLEA LYRQDPESLP FRQPVDPQLL GIPDYFDIVK NPMDLSTIKR
1140 KLDTGQYQEP WQYVDDVWLM FNNAWLYNRK TSRVYKFCSK LAEVFEQEID PVMQSLGYCC
1200 GRKYEFSPQT LCCYGKQLCT IPRDAAYYSY QNRYHFCEKC FTEIQGENVT LGDDPSQPQT
1260 TISKDQFEKK KNDTLDPEPF VDCKECGRKM HQICVLHYDI IWPSGFVCDN CLKKTGRPRK
1320 ENKFSAKRLQ TTRLGNHLED RVNKFLRRQN HPEAGEVFVR VVASSDKTVE VKPGMKSRFV
1380 DSGEMSESFP YRTKALFAFE EIDGVDVCFF GMHVQEYGSD CPPPNTRRVY ISYLDSIHFF
1440 RPRCLRTAVY HEILIGYLEY VKKLGYVTGH IWACPPSEGD DYIFHCHPPD QKIPKPKRLQ
1500 EWYKKMLDKA FAERIIHDYK DIFKQATEDR LTSAKELPYF EGDFWPNVLE ESIKELEQEE
1560 EERKKEESTA ASETTEGSQG DSKNAKKKNN KKTNKNKSSI SRANKKKPSM PNVSNDLSQK
1620 LYATMEKHKE VFFVIHLHAG PVINTLPPIV DPDPLLSCDL MDGRDAFLTL ARDKHWEFSS
1680 LRRSKWSTLC MLVELHTQGQ DRFVYTCNEC KHHVETRWHC TVCEDYDLCI NCYNTKSHAH
1740 KMVKWGLGLD DEGSSQGEPQ SKSPQESRRL SIQRCIQSLV HACQCRNANC SLPSCQKMKR
1800 VVQHTKGCKR KTNGGCPVCK QLIALCCYHA KHCQENKCPV PFCLNIKHKL RQQQIQHRLQ
1860 QAQLMRRRMA TMNTRNVPQQ SLPSPTSAPP GTPTQQPSTP QTPQPPAQPQ PSPVSMSPAG
1920 FPSVARTQPP TTVSTGKPTS QVPAPPPPAQ PPPAAVEAAR QIEREAQQQQ HLYRVNINNS
1980 MPPGRTGMGT PGSQMAPVSL NVPRPNQVSG PVMPSMPPGQ WQQAPLPQQQ PMPGLPRPVI
2040 SMQAQAAVAG PRMPSVQPPR SISPSALQDL LRTLKSPSSP QQQQQVLNIL KSNPQLMAAF
2100 IKQRTAKYVA NQPGMQPQPG LQSQPGMQPQ PGMHQQPSLQ NLNAMQAGVP RPGVPPQQQA
2160 MGGLNPQGQA LNIMNPGHNP NMASMNPQYR EMLRRQLLQQ QQQQQQQQQQ QQQQQQGSAG
2220 MAGGMAGHGQ FQQPQGPGGY PPAMQQQQRM QQHLPLQGSS MGQMAAQMGQ LGQMGQPGLG
2280 ADSTPNIQQA LQQRILQQQQ MKQQIGSPGQ PNPMSPQQHM LSGQPQASHL PGQQIATSLS
2340 NQVRSPAPVQ SPRPQSQPPH SSPSPRIQPQ PSPHHVSPQT GSPHPGLAVT MASSIDQGHL
2400 GNPEQSAMLP QLNTPSRSAL SSELSLVGDT TGDTLEKFVE GL
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
134933
Sobulo O.M.,Borrow J.,Tomek R.,Reshimi S.,Harden A.,Schlegelberger B.,Housman D.,Doggett N.A.,Rowley J.D.,Zeleznik-Le N.J.
MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3).
Proc. Natl. Acad. Sci. U.S.A.
94
8732-8737
1997
134934
Giles R.H.,Petrij F.,Dauwerse H.G.,den Hollander A.I.,Lushnikova T.,van Ommen G.J.B.,Goodman R.H.,Deaven L.L.,Doggett N.A.,Peters D.J.M.,Breuning M.H.
Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.
Genomics
42
96-114
1997
134938
Borrow J.,Stanton V.P. Jr.,Andresen J.M.,Becher R.,Behm F.G.,Chaganti R.S.K.,Civin C.I.,Disteche C.,Dube I.,Frischauf A.M.,Horsman D.,Mitelman F.,Volinia S.,Watmore A.E.,Housman D.E.
The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein.
Nat. Genet.
14
33-41
1996
134939
Panagopoulos I.,Fioretos T.,Isaksson M.,Samuelsson U.,Billstroem R.,Stroembeck B.,Mitelman F.,Johansson B.
Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).
Hum. Mol. Genet.
10
395-404
2001
134940
Yang X.-J.,Ogryzko V.V.,Nishikawa J.,Howard B.H.,Nakatani Y.
A p300/CBP-associated factor that competes with the adenoviral oncoprotein E1A.
Nature
382
319-324
1996
134941
Arany Z.,Huang L.E.,Eckner R.,Bhattacharya S.,Jiang C.,Goldberg M.A.,Bunn H.F.,Livingston D.M.
An essential role for p300/CBP in the cellular response to hypoxia.
Proc. Natl. Acad. Sci. U.S.A.
93
12969-12973
1996
134942
Nakajima T.,Uchida C.,Anderson S.F.,Lee C.-G.,Hurwitz J.,Parvin J.D.,Montminy M.
RNA helicase A mediates association of CBP with RNA polymerase II.
Cell
90
1107-1112
1997
134943
Bex F.,Yin M.-J.,Burny A.,Gaynor R.B.
Differential transcriptional activation by human T-cell leukemia virus type 1 Tax mutants is mediated by distinct interactions with CREB binding protein and p300.
Mol. Cell. Biol.
18
2392-2405
1998
134944
Zhang W.,Bieker J.J.
Acetylation and modulation of erythroid Krueppel-like factor (EKLF) activity by interaction with histone acetyltransferases.
Proc. Natl. Acad. Sci. U.S.A.
95
9855-9860
1998
134945
Johnston H.,Kneer J.,Chackalaparampil I.,Yaciuk P.,Chrivia J.
Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein.
J. Biol. Chem.
274
16370-16376
1999
134946
Doucas V.,Tini M.,Egan D.A.,Evans R.M.
Modulation of CREB binding protein function by the promyelocytic (PML) oncoprotein suggests a role for nuclear bodies in hormone signaling.
Proc. Natl. Acad. Sci. U.S.A.
96
2627-2632
1999
134947
Chen H.,Lin R.J.,Xie W.,Wilpitz D.,Evans R.M.
Regulation of hormone-induced histone hyperacetylation and gene activation via acetylation of an acetylase.
Cell
98
675-686
1999
134948
Yahata T.,de Caestecker M.P.,Lechleider R.J.,Andriole S.,Roberts A.B.,Isselbacher K.J.,Shioda T.
The MSG1 non-DNA-binding transactivator binds to the p300/CBP coactivators, enhancing their functional link to the Smad transcription factors.
J. Biol. Chem.
275
8825-8834
2000
134949
Mahajan M.A.,Samuels H.H.
A new family of nuclear receptor coregulators that integrates nuclear receptor signaling through CBP.
Mol. Cell. Biol.
20
5048-5063
2000
134950
Hung H.-L.,Kim A.Y.,Hong W.,Rakowski C.,Blobel G.A.
Stimulation of NF-E2 DNA binding by CREB-binding protein (CBP)-mediated acetylation.
J. Biol. Chem.
276
10715-10721
2001
134951
Yang T.T.C.,Davis R.J.,Chow C.-W.
Requirement of two NFATc4 transactivation domains for CBP potentiation.
J. Biol. Chem.
276
39569-39576
2001
134952
Chakraborty S.,Senyuk V.,Sitailo S.,Chi Y.,Nucifora G.
Interaction of EVI1 with cAMP-responsive element-binding protein-binding protein (CBP) and p300/CBP-associated factor (P/CAF) results in reversible acetylation of EVI1 and in co-localization in nuclear speckles.
J. Biol. Chem.
276
44936-44943
2001
134953
Scoggin K.E.S.,Ulloa A.,Nyborg J.K.
The oncoprotein Tax binds the SRC-1-interacting domain of CBP/p300 to mediate transcriptional activation.
Mol. Cell. Biol.
21
5520-5530
2001
134954
Zhang W.,Nisbet J.W.,Albrecht B.,Ding W.,Kashanchi F.,Bartoe J.T.,Lairmore M.D.
Human T-lymphotropic virus type 1 p30(II) regulates gene transcription by binding CREB binding protein/p300.
J. Virol.
75
9885-9895
2001
134955
Gizard F.,Lavallee B.,DeWitte F.,Hum D.W.
A novel zinc finger protein TReP-132 interacts with CBP/p300 to regulate human CYP11A1 gene expression.
J. Biol. Chem.
276
33881-33892
2001
134956
Vadlamudi R.K.,Wang R.-A.,Mazumdar A.,Kim Y.-S.,Shin J.,Sahin A.,Kumar R.
Molecular cloning and characterization of PELP1, a novel human coregulator of estrogen receptor alpha.
J. Biol. Chem.
276
38272-38279
2001
134957
Lin R.,Genin P.,Mamane Y.,Sgarbanti M.,Battistini A.,Harrington W.J. Jr.,Barber G.N.,Hiscott J.
HHV-8 encoded vIRF-1 represses the interferon antiviral response by blocking IRF-3 recruitment of the CBP/p300 coactivators.
Oncogene
20
800-811
2001
134958
Yamamoto H.,Kihara-Negishi F.,Yamada T.,Suzuki M.,Nakano T.,Oikawa T.
Interaction between the hematopoietic Ets transcription factor Spi-B and the coactivator CREB-binding protein associated with negative cross-talk with c-Myb.
Cell Growth Differ.
13
69-75
2002
134959
Braganca J.,Swingler T.,Marques F.I.R.,Jones T.,Eloranta J.J.,Hurst H.C.,Shioda T.,Bhattacharya S.
Human CREB-binding protein/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2.
J. Biol. Chem.
277
8559-8565
2002
134960
Wu R.-C.,Qin J.,Hashimoto Y.,Wong J.,Xu J.,Tsai S.Y.,Tsai M.-J.,O'Malley B.W.
Regulation of SRC-3 (pCIP/ACTR/AIB-1/RAC-3/TRAM-1) coactivator activity by I kappa B kinase.
Mol. Cell. Biol.
22
3549-3561
2002
134961
Masumi A.,Yamakawa Y.,Fukazawa H.,Ozato K.,Komuro K.
Interferon regulatory factor-2 regulates cell growth through its acetylation.
J. Biol. Chem.
278
25401-25407
2003
134962
Watanabe N.,Wachi S.,Fujita T.
Identification and characterization of BCL-3-binding protein: implications for transcription and DNA repair or recombination.
J. Biol. Chem.
278
26102-26110
2003
134963
Iioka T.,Furukawa K.,Yamaguchi A.,Shindo H.,Yamashita S.,Tsukazaki T.
P300/CBP acts as a coactivator to cartilage homeoprotein-1 (Cart1), paired-like homeoprotein, through acetylation of the conserved lysine residue adjacent to the homeodomain.
J. Bone Miner. Res.
18
1419-1429
2003
134964
Curtis A.M.,Seo S.B.,Westgate E.J.,Rudic R.D.,Smyth E.M.,Chakravarti D.,FitzGerald G.A.,McNamara P.
Histone acetyltransferase-dependent chromatin remodeling and the vascular clock.
J. Biol. Chem.
279
7091-7097
2004
134965
Wang H.,Fang R.,Cho J.-Y.,Libermann T.A.,Oettgen P.
Positive and negative modulation of the transcriptional activity of the ETS factor ESE-1 through interaction with p300, CREB-binding protein, and Ku 70/86.
J. Biol. Chem.
279
25241-25250
2004
134966
van der Horst A.,Tertoolen L.G.J.,de Vries-Smits L.M.M.,Frye R.A.,Medema R.H.,Burgering B.M.T.
FOXO4 is acetylated upon peroxide stress and deacetylated by the longevity protein hSir2(SIRT1).
J. Biol. Chem.
279
28873-28879
2004
134967
Pradhan A.,Liu Y.
The calcium-responsive transactivator recruits CREB binding protein to nuclear bodies.
Neurosci. Lett.
370
191-195
2004
134968
Daitoku H.,Hatta M.,Matsuzaki H.,Aratani S.,Ohshima T.,Miyagishi M.,Nakajima T.,Fukamizu A.
Silent information regulator 2 potentiates Foxo1-mediated transcription through its deacetylase activity.
Proc. Natl. Acad. Sci. U.S.A.
101
10042-10047
2004
134969
Aizawa H.,Hu S.-C.,Bobb K.,Balakrishnan K.,Ince G.,Gurevich I.,Cowan M.,Ghosh A.
Dendrite development regulated by CREST, a calcium-regulated transcriptional activator.
Science
303
197-202
2004
134970
Huang W.C.,Ju T.K.,Hung M.C.,Chen C.C.
Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB.
Mol. Cell
26
75-87
2007
134971
Matsuoka S.,Ballif B.A.,Smogorzewska A.,McDonald E.R. III,Hurov K.E.,Luo J.,Bakalarski C.E.,Zhao Z.,Solimini N.,Lerenthal Y.,Shiloh Y.,Gygi S.P.,Elledge S.J.
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Science
316
1160-1166
2007
134972
Sarkar D.,Park E.S.,Emdad L.,Lee S.-G.,Su Z.-Z.,Fisher P.B.
Molecular basis of nuclear factor-kappaB activation by astrocyte elevated gene-1.
Cancer Res.
68
1478-1484
2008
134973
Clerc I.,Polakowski N.,Andre-Arpin C.,Cook P.,Barbeau B.,Mesnard J.M.,Lemasson I.
An interaction between the human T cell leukemia virus type 1 basic leucine zipper factor (HBZ) and the KIX domain of p300/CBP contributes to the down-regulation of tax-dependent viral transcription by HBZ.
J. Biol. Chem.
283
23903-23913
2008
134974
Dephoure N.,Zhou C.,Villen J.,Beausoleil S.A.,Bakalarski C.E.,Elledge S.J.,Gygi S.P.
A quantitative atlas of mitotic phosphorylation.
Proc. Natl. Acad. Sci. U.S.A.
105
10762-10767
2008
134975
Gauci S.,Helbig A.O.,Slijper M.,Krijgsveld J.,Heck A.J.,Mohammed S.
Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Anal. Chem.
81
4493-4501
2009
134976
Mayya V.,Lundgren D.H.,Hwang S.-I.,Rezaul K.,Wu L.,Eng J.K.,Rodionov V.,Han D.K.
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
Sci. Signal.
2
0-0
2009
134977
Choudhary C.,Kumar C.,Gnad F.,Nielsen M.L.,Rehman M.,Walther T.C.,Olsen J.V.,Mann M.
Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Science
325
834-840
2009
134978
Olsen J.V.,Vermeulen M.,Santamaria A.,Kumar C.,Miller M.L.,Jensen L.J.,Gnad F.,Cox J.,Jensen T.S.,Nigg E.A.,Brunak S.,Mann M.
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Sci. Signal.
3
0-0
2010
134979
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
134980
Van Damme P.,Lasa M.,Polevoda B.,Gazquez C.,Elosegui-Artola A.,Kim D.S.,De Juan-Pardo E.,Demeyer K.,Hole K.,Larrea E.,Timmerman E.,Prieto J.,Arnesen T.,Sherman F.,Gevaert K.,Aldabe R.
N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
Proc. Natl. Acad. Sci. U.S.A.
109
12449-12454
2012
134981
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
134982
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
134983
Guo A.,Gu H.,Zhou J.,Mulhern D.,Wang Y.,Lee K.A.,Yang V.,Aguiar M.,Kornhauser J.,Jia X.,Ren J.,Beausoleil S.A.,Silva J.C.,Vemulapalli V.,Bedford M.T.,Comb M.J.
Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
Mol. Cell. Proteomics
13
372-387
2014
134984
Cazzalini O.,Sommatis S.,Tillhon M.,Dutto I.,Bachi A.,Rapp A.,Nardo T.,Scovassi A.I.,Necchi D.,Cardoso M.C.,Stivala L.A.,Prosperi E.
CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis.
Nucleic Acids Res.
42
8433-8448
2014
134985
Yang Y.,Cui J.,Xue F.,Zhang C.,Mei Z.,Wang Y.,Bi M.,Shan D.,Meredith A.,Li H.,Xu Z.Q.
Pokemon (FBI-1) interacts with Smad4 to repress TGF-beta-induced transcriptional responses.
Biochim. Biophys. Acta
1849
270-281
2015
134986
Choi S.H.,Gearhart M.D.,Cui Z.,Bosnakovski D.,Kim M.,Schennum N.,Kyba M.
DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.
Nucleic Acids Res.
44
5161-5173
2016
134987
Dames S.A.,Martinez-Yamout M.,De Guzman R.N.,Dyson H.J.,Wright P.E.
Structural basis for Hif-1 alpha /CBP recognition in the cellular hypoxic response.
Proc. Natl. Acad. Sci. U.S.A.
99
5271-5276
2002
134988
Kitabayashi I.,Aikawa Y.,Nguyen L.A.,Yokoyama A.,Ohki M.
Activation of AML1-mediated transcription by MOZ and inhibition by the MOZ-CBP fusion protein.
EMBO J.
20
7184-7196
2001
134989
Vendel A.C.,Lumb K.J.
NMR mapping of the HIV-1 Tat interaction surface of the KIX domain of the human coactivator CBP.
Biochemistry
43
904-908
2004
134990
Filippakopoulos P.,Picaud S.,Mangos M.,Keates T.,Lambert J.P.,Barsyte-Lovejoy D.,Felletar I.,Volkmer R.,Muller S.,Pawson T.,Gingras A.C.,Arrowsmith C.H.,Knapp S.
Histone recognition and large-scale structural analysis of the human bromodomain family.
Cell
149
214-231
2012
134991
Das C.,Roy S.,Namjoshi S.,Malarkey C.S.,Jones D.N.,Kutateladze T.G.,Churchill M.E.,Tyler J.K.
Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation.
Proc. Natl. Acad. Sci. U.S.A.
111
0-0
2014
134992
Plotnikov A.N.,Yang S.,Zhou T.J.,Rusinova E.,Frasca A.,Zhou M.M.
Structural insights into acetylated-histone H4 recognition by the bromodomain-PHD finger module of human transcriptional coactivator CBP.
Structure
22
353-360
2014
134993
Zhao B.,Shu C.,Gao X.,Sankaran B.,Du F.,Shelton C.L.,Herr A.B.,Ji J.Y.,Li P.
Structural basis for concerted recruitment and activation of IRF-3 by innate immune adaptor proteins.
Proc. Natl. Acad. Sci. U.S.A.
113
0-0
2016
134994
Murata T.,Kurokawa R.,Krones A.,Tatsumi K.,Ishii M.,Taki T.,Masuno M.,Ohashi H.,Yanagisawa M.,Rosenfeld M.G.,Glass C.K.,Hayashi Y.
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
Hum. Mol. Genet.
10
1071-1076
2001
134995
Bartsch O.,Locher K.,Meinecke P.,Kress W.,Seemanova E.,Wagner A.,Ostermann K.,Roedel G.
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
J. Med. Genet.
39
496-501
2002
134996
Kalkhoven E.,Roelfsema J.H.,Teunissen H.,den Boer A.,Ariyuerek Y.,Zantema A.,Breuning M.H.,Hennekam R.C.M.,Peters D.J.M.
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
Hum. Mol. Genet.
12
441-450
2003
134997
Roelfsema J.H.,White S.J.,Ariyuerek Y.,Bartholdi D.,Niedrist D.,Papadia F.,Bacino C.A.,den Dunnen J.T.,van Ommen G.-J.B.,Breuning M.H.,Hennekam R.C.,Peters D.J.M.
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Am. J. Hum. Genet.
76
572-580
2005
134998
Bartsch O.,Kress W.,Kempf O.,Lechno S.,Haaf T.,Zechner U.
Inheritance and variable expression in Rubinstein-Taybi syndrome.
Am. J. Med. Genet. A
152A
2254-2261
2010
134999
Spena S.,Milani D.,Rusconi D.,Negri G.,Colapietro P.,Elcioglu N.,Bedeschi F.,Pilotta A.,Spaccini L.,Ficcadenti A.,Magnani C.,Scarano G.,Selicorni A.,Larizza L.,Gervasini C.
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Clin. Genet.
88
431-440
2015
135000
Menke L.A.,van Belzen M.J.,Alders M.,Cristofoli F.,Ehmke N.,Fergelot P.,Foster A.,Gerkes E.H.,Hoffer M.J.,Horn D.,Kant S.G.,Lacombe D.,Leon E.,Maas S.M.,Melis D.,Muto V.,Park S.M.,Peeters H.,Peters D.J.,Pfundt R.,van Ravenswaaij-Arts C.M.,Tartaglia M.,Hennekam R.C.
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Am. J. Med. Genet. A
170
2681-2693
2016
135001
Menke L.A.,Gardeitchik T.,Hammond P.,Heimdal K.R.,Houge G.,Hufnagel S.B.,Ji J.,Johansson S.,Kant S.G.,Kinning E.,Leon E.L.,Newbury-Ecob R.,Paolacci S.,Pfundt R.,Ragge N.K.,Rinne T.,Ruivenkamp C.,Saitta S.C.,Sun Y.,Tartaglia M.,Terhal P.A.,van Essen A.J.,Vigeland M.D.,Xiao B.,Hennekam R.C.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am. J. Med. Genet. A
176
862-876
2018
135002
Angius A.,Uva P.,Oppo M.,Persico I.,Onano S.,Olla S.,Pes V.,Perria C.,Cuccuru G.,Atzeni R.,Serra G.,Cucca F.,Sotgiu S.,Hennekam R.C.,Crisponi L.
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Am. J. Med. Genet. A
179
634-638
2019