Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.
| RefSeq Version | NM_015559.2, 194294553 |
| Length | 9899 bp |
| Structure | linear |
| Update Date | 10-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. |
| Product | SET-binding protein isoform a |
| Comment | COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC146776.1, AC105074.5, BQ641251.1 and AC090376.6. This sequence is a reference standard in the RefSeqGene project. On Jul 17, 2008 this sequence version replaced gi:7662121. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_056374.2 |
| CDS | 297..5087 | Exon (1) | 1..124 | Exon (2) | 1..124 | Exon (3) | 125..782 | Exon (4) | 783..836 | Exon (5) | 837..4296 | Exon (6) | 4297..4467 | Exon (7) | 4468..9899 |
| Translation | MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEE
DELGSGRDVDSNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNL
ENYICPPEIKITIKQSGDQKVSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQ
AYERPQKHSTLHYDTGLPQDFTGDTLKPKHQQKSSSQNHMDWSTNSDSGPVTQNCFISPE
SGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNNNKDLLLGGVAPSPSSHSSPA
PPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNPDLDWVKNAQK
AFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKK
RQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGL
ETGGNAEKVIPGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPS
TMLREAVMATSDKLMLEPPSAYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVET
IHEGTSTSPVSPISREFPGTKKRKRRRNLAKLAQLVPGEDKPMSEMKFHKKVGKLGVLDK
KTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSPGAAAIESKLGKQINVSKRGT
IYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVASSPAAMHPLS
TQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPS
HLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLD
NPEAIPSDTSTKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEEL
ITKFQVFRISHRSYTFYHENPYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRG
RPAKTNDTMTKVPFLQGFSYPIPSGSYYAPYGMPYTSMPMMNLGYYGQYPAPLYLSHTLG
AASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGPVSMGLGDMQPSLNPPKVGSA
SLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERLSSADKELPLV
SEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCT
KRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMN
RKERSSYDSSMSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSL
LAASAATSDAVGSSLKKRFKRREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQ
RQSKTGNNFVKKRRGRPRKQPTQFDEDSRDQMPVLEKCIDLPSKRGQKPSLSPLVLEPAA
SQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPPPPPLPKTPRGGKRKHKPQAP
AQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP
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| Gene Symbol | SETBP1 |
| Gene Synonym | DKFZp666J1210; KIAA0437; SEB |
| Chromosome | 18 |
| Locus Map | 18q21.1 |
| All Transcripts | NM_015559 , NM_001130110 |
| Title | Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction . |
| Author | Sotoodehnia,N., Isaacs,A., de Bakker,P.I., Dorr,M., Newton-Cheh,C., Nolte,I.M., van der Harst,P., Muller,M., Eijgelsheim,M., Alonso,A., Hicks,A.A., Padmanabhan,S., Hayward,C., Smith,A.V., Polasek,O., Giovannone,S., Fu,J., Magnani,J.W., Marciante,K.D., Pfeufer,A., Gharib,S.A., Teumer,A., Li,M., Bis,J.C., Rivadeneira,F., Aspelund,T., Kottgen,A., Johnson,T., Rice,K., Sie,M.P., Wang,Y.A., Klopp,N., Fuchsberger,C., Wild,S.H., Mateo Leach,I., Estrada,K., Volker,U., Wright,A.F., Asselbergs,F.W., Qu,J., Chakravarti,A., Sinner,M.F., Kors,J.A., Petersmann,A., Harris,T.B., Soliman,E.Z., Munroe,P.B., Psaty,B.M., Oostra,B.A., Cupples,L.A., Perz,S., de Boer,R.A., Uitterlinden,A.G., Volzke,H., Spector,T.D., Liu,F.Y., Boerwinkle,E., Dominiczak,A.F., Rotter,J.I., van Herpen,G., Levy,D., Wichmann,H.E., van Gilst,W.H., Witteman,J.C., Kroemer,H.K., Kao,W.H., Heckbert,S.R., Meitinger,T., Hofman,A., Campbell,H., Folsom,A.R., van Veldhuisen,D.J., Schwienbacher,C., O'Donnell,C.J., Volpato,C.B., Caulfield,M.J., Connell,J.M., Launer,L., Lu,X., Franke,L., Fehrmann,R.S., te Meerman,G., Groen,H.J., Weersma,R.K., van den Berg,L.H., Wijmenga,C., Ophoff,R.A., Navis,G., Rudan,I., Snieder,H., Wilson,J.F., Pramstaller,P.P., Siscovick,D.S., Wang,T.J., Gudnason,V., van Duijn,C.M., Felix,S.B., Fishman,G.I., Jamshidi,Y., Stricker,B.H., Samani,N.J., Kaab,S. and Arking,D.E. |
| Journal | Nat. Genet. 42 (12), 1068-1076 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome . |
| Author | Hoischen,A., van Bon,B.W., Gilissen,C., Arts,P., van Lier,B., Steehouwer,M., de Vries,P., de Reuver,R., Wieskamp,N., Mortier,G., Devriendt,K., Amorim,M.Z., Revencu,N., Kidd,A., Barbosa,M., Turner,A., Smith,J., Oley,C., Henderson,A., Hayes,I.M., Thompson,E.M., Brunner,H.G., de Vries,B.B. and Veltman,J.A. |
| Journal | Nat. Genet. 42 (6), 483-485 (2010) |
| Title | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip . |
| Author | Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. |
| Journal | Am. J. Hum. Genet. 85 (5), 628-642 (2009) |
| Title | Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1 . |
| Author | Ott,M.G., Schmidt,M., Schwarzwaelder,K., Stein,S., Siler,U., Koehl,U., Glimm,H., Kuhlcke,K., Schilz,A., Kunkel,H., Naundorf,S., Brinkmann,A., Deichmann,A., Fischer,M., Ball,C., Pilz,I., Dunbar,C., Du,Y., Jenkins,N.A., Copeland,N.G., Luthi,U., Hassan,M., Thrasher,A.J., Hoelzer,D., von Kalle,C., Seger,R. and Grez,M. |
| Journal | Nat. Med. 12 (4), 401-409 (2006) |
| Title | The human plasma proteome: a nonredundant list developed by combination of four separate sources . |
| Author | Anderson,N.L., Polanski,M., Pieper,R., Gatlin,T., Tirumalai,R.S., Conrads,T.P., Veenstra,T.D., Adkins,J.N., Pounds,J.G., Fagan,R. and Lobley,A. |
| Journal | Mol. Cell Proteomics 3 (4), 311-326 (2004) |
| Title | Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET . |
| Author | Minakuchi,M., Kakazu,N., Gorrin-Rivas,M.J., Abe,T., Copeland,T.D., Ueda,K. and Adachi,Y. |
| Journal | Eur. J. Biochem. 268 (5), 1340-1351 (2001) |
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