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Database:

Blast Method:

 
 


Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_015559 Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

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RefSeq Version NM_015559.2, 194294553
Length 9899 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.
Product SET-binding protein isoform a
Comment

Summary: This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011].


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.

RefSeq NP_056374.2
CDS 297..5087
Misc Feature(1)267..269
Misc Feature(2)4092..4094
Misc Feature(3)4092..4094
Misc Feature(4)4110..4112
Misc Feature(5)4854..4925
Exon (1)1..124
Gene:SETBP1
Gene Synonym:SEB
Exon (2)125..782
Gene:SETBP1
Gene Synonym:SEB
Exon (3)783..836
Gene:SETBP1
Gene Synonym:SEB
Exon (4)837..4296
Gene:SETBP1
Gene Synonym:SEB
Exon (5)4297..4467
Gene:SETBP1
Gene Synonym:SEB
Exon (6)4468..9899
Gene:SETBP1
Gene Synonym:SEB
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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Position Chain Variation Link
42+dbSNP:
42+g, tdbSNP:77168280
133+dbSNP:
133+c, gdbSNP:145284354
183+c, tdbSNP:183515719
277+a, gdbSNP:202134217
361+a, tdbSNP:185998256
437+a, gdbSNP:146868426
457+a, gdbSNP:140717709
467+a, gdbSNP:148596984
506+g, tdbSNP:142975703
518+c, tdbSNP:151108179
521+a, gdbSNP:111324550
605+a, gdbSNP:200639817
626+a, gdbSNP:190818714
698+a, gdbSNP:199906212
708+g, tdbSNP:144184206
763+a, gdbSNP:75248959
803+dbSNP:
803+c, tdbSNP:201939233
805+c, tdbSNP:141225535
867+dbSNP:
867+c, tdbSNP:146994409
911+a, cdbSNP:138039719
930+a, cdbSNP:79615803
941+c, tdbSNP:202152985
980+c, tdbSNP:149073567
981+a, gdbSNP:143196787
987+a, c, gdbSNP:11082414
1053+a, gdbSNP:149472556
1064+c, tdbSNP:141858699
1065+a, gdbSNP:144967125
1107..1108+, gdbSNP:35468095
1207+a, gdbSNP:200286635
1223+c, tdbSNP:199603131
1265+a, gdbSNP:138913968
1344+c, tdbSNP:142034944
1377+g, tdbSNP:146321232
1383+g, tdbSNP:201685079
1454+c, tdbSNP:73472918
1466+c, tdbSNP:8091231
1497+c, tdbSNP:200966921
1498+a, gdbSNP:144407969
1524+c, tdbSNP:148790801
1544+c, tdbSNP:144249054
1573+c, tdbSNP:187433533
1635+g, tdbSNP:147768665
1675+a, gdbSNP:199597517
1683+c, tdbSNP:201930325
1688+, cdbSNP:35885973
1779+a, tdbSNP:138515058
1786+c, tdbSNP:145133915
1787+a, gdbSNP:113053616
1801+c, tdbSNP:189891219
1802+g, tdbSNP:140838391
1877+g, tdbSNP:150136756
1927+a, gdbSNP:201672132
1938+a, gdbSNP:200023639
1952+c, tdbSNP:145656108
1973+a, gdbSNP:201699775
2083+c, tdbSNP:113699859
2123+c, tdbSNP:140403091
2124+a, gdbSNP:200927313
2175+c, tdbSNP:146193261
2176+a, gdbSNP:138819848
2212+a, gdbSNP:187990800
2228+c, tdbSNP:3744824
2438+c, tdbSNP:111865740
2457+a, tdbSNP:199698418
2555+c, tdbSNP:141924960
2563+c, tdbSNP:200368452
2604+g, tdbSNP:199810775
2656+a, gdbSNP:143716526
2680+c, gdbSNP:148108984
2729+c, tdbSNP:141960143
2825+c, tdbSNP:199582335
2852+a, gdbSNP:150665941
2862+g, tdbSNP:140028039
2898+a, gdbSNP:267607042
2899+a, cdbSNP:267607041
2903+c, tdbSNP:74499808
2904+a, gdbSNP:267607040
2905+a, gdbSNP:267607039
2908+c, tdbSNP:267607038
2909..2910+, gdbSNP:36110095
2951+c, gdbSNP:143325806
2999+c, tdbSNP:147524056
3001+c, gdbSNP:139479590
3002+a, gdbSNP:113916801
3013+c, tdbSNP:144966931
3017+c, tdbSNP:148632511
3033+a, gdbSNP:112590414
3077+c, tdbSNP:142192274
3084+c, tdbSNP:151193627
3214+c, gdbSNP:140321570
3230+c, tdbSNP:145566816
3305+a, gdbSNP:142295785
3334+g, tdbSNP:200985017
3352+a, gdbSNP:140544874
3379+c, gdbSNP:201528994
3495+a, gdbSNP:192082217
3530+a, gdbSNP:150396512
3533+c, tdbSNP:150875847
3572+a, gdbSNP:199547532
3595+a, gdbSNP:149162154
3597+a, gdbSNP:3744825
3643+a, gdbSNP:139246276
3658+c, tdbSNP:113314121
3684+a, cdbSNP:1064204
3777+c, gdbSNP:199578000
3807+a, cdbSNP:147540466
3840+c, tdbSNP:78016724
3857+c, tdbSNP:138530624
3872+c, tdbSNP:201826395
3889+c, tdbSNP:200960707
3890+a, gdbSNP:200032059
3894+c, gdbSNP:143448706
3911+a, gdbSNP:150509004
3914+c, tdbSNP:34882016
3917+g, tdbSNP:149695987
3928+a, gdbSNP:144471715
3941+c, tdbSNP:200219791
4007+c, tdbSNP:139317870
4008+a, gdbSNP:144087649
4027+a, gdbSNP:201474295
4075+c, tdbSNP:146524875
4086+g, tdbSNP:141108624
4102+a, gdbSNP:79938638
4104+a, gdbSNP:142834327
4120+c, tdbSNP:151038663
4121+a, gdbSNP:8096662
4152+c, tdbSNP:150224800
4172+c, gdbSNP:139106261
4187+a, gdbSNP:141788618
4204+a, cdbSNP:147082972
4220+a, gdbSNP:138595519
4258+a, gdbSNP:149638556
4271+a, tdbSNP:192800556
4280+c, tdbSNP:199931480
4305+dbSNP:
4305+a, tdbSNP:144369581
4330+c, gdbSNP:148195272
4332+a, gdbSNP:141137185
4350+a, gdbSNP:146222882
4379+a, gdbSNP:201600296
4392+a, gdbSNP:145549368
4425+c, gdbSNP:77518617
4427+a, gdbSNP:35460875
4452+a, gdbSNP:200286369
4456+c, tdbSNP:200881888
4523+c, tdbSNP:200760583
4530+a, cdbSNP:145996171
4535+a, gdbSNP:200002988
4586+a, gdbSNP:139896661
4664+c, tdbSNP:149745878
4694+g, tdbSNP:117498128
4794+c, gdbSNP:200098271
4936+a, cdbSNP:201973930
4976+c, tdbSNP:201428338
5170+c, tdbSNP:182854123
5275+c, gdbSNP:143702938
5539+a, gdbSNP:151238478
5559+a, tdbSNP:1056570
5563+c, tdbSNP:1056571
5900+c, gdbSNP:7233404
5920+c, tdbSNP:73952954
5923+a, gdbSNP:187498930
5954+a, tdbSNP:191900502
6074+c, gdbSNP:184091282
6198..6199+, aadbSNP:10691360
6198+, adbSNP:57937684
6458+c, tdbSNP:140436683
6600+c, tdbSNP:189265595
6620+c, tdbSNP:192597791
6757+a, gdbSNP:185593899
6832+a, tdbSNP:73431734
6890..6891+, cdbSNP:34921199
6904+a, gdbSNP:9963575
7009+a, gdbSNP:190452303
7346+a, tdbSNP:1349385
7492+c, tdbSNP:149990348
7557+, adbSNP:34338523
7638+c, tdbSNP:145085946
7761+a, gdbSNP:57173867
7878+a, gdbSNP:142310022
7924+c, gdbSNP:181864816
7949+a, gdbSNP:145912270
7971+c, tdbSNP:112813646
7988+a, cdbSNP:7244247
8043+c, tdbSNP:186026200
8049+, gdbSNP:150895395
8059..8060+, ttdbSNP:201439380
8059+, tdbSNP:34125334
8266+a, gdbSNP:72898811
8375+c, gdbSNP:146961449
8432+a, cdbSNP:115098550
8487..8488+, cdbSNP:34738582
8521+c, tdbSNP:148016914
8590+c, tdbSNP:188875989
8763+c, tdbSNP:117464906
8916+c, tdbSNP:141617886
8920+c, gdbSNP:181283064
8922+c, tdbSNP:112551826
8971+g, tdbSNP:117797575
9097+c, tdbSNP:150522461
9098+c, tdbSNP:138323876
9210+a, cdbSNP:186392177
9240+a, gdbSNP:190838021
9303+a, gdbSNP:182638330
9324+a, cdbSNP:143072709
9337+a, cdbSNP:77706244
9412..9413+, adbSNP:35849833
9583+c, tdbSNP:146108802
9597+c, tdbSNP:76077260
9693+g, tdbSNP:140136345
9746+g, tdbSNP:187183455
9830+, adbSNP:10715988
Gene SymbolSETBP1
Gene SynonymSEB
Chromosome18
Locus Map18q21.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001130110 Homo sapiens SET binding protein 1 (SETBP1), transcript variant 2, mRNA. In-stock $308.00 $259.00 10
NM_015559 Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. On-demand TBD TBD
Title Recurrent SETBP1 mutations in atypical chronic myeloid leukemia .
Author Piazza,R., Valletta,S., Winkelmann,N., Redaelli,S., Spinelli,R., Pirola,A., Antolini,L., Mologni,L., Donadoni,C., Papaemmanuil,E., Schnittger,S., Kim,D.W., Boultwood,J., Rossi,F., Gaipa,G., De Martini,G.P., di Celle,P.F., Jang,H.G., Fantin,V., Bignell,G.R., Magistroni,V., Haferlach,T., Pogliani,E.M., Campbell,P.J., Chase,A.J., Tapper,W.J., Cross,N.C. and Gambacorti-Passerini,C.
Journal Nat. Genet. 45 (1), 18-24 (2013)
Title Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases .
Author Li,R., Brockschmidt,F.F., Kiefer,A.K., Stefansson,H., Nyholt,D.R., Song,K., Vermeulen,S.H., Kanoni,S., Glass,D., Medland,S.E., Dimitriou,M., Waterworth,D., Tung,J.Y., Geller,F., Heilmann,S., Hillmer,A.M., Bataille,V., Eigelshoven,S., Hanneken,S., Moebus,S., Herold,C., den Heijer,M., Montgomery,G.W., Deloukas,P., Eriksson,N., Heath,A.C., Becker,T., Sulem,P., Mangino,M., Vollenweider,P., Spector,T.D., Dedoussis,G., Martin,N.G., Kiemeney,L.A., Mooser,V., Stefansson,K., Hinds,D.A., Nothen,M.M. and Richards,J.B.
Journal PLoS Genet. 8 (5), E1002746 (2012)
Title 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment .
Author Marseglia,G., Scordo,M.R., Pescucci,C., Nannetti,G., Biagini,E., Scandurra,V., Gerundino,F., Magi,A., Benelli,M. and Torricelli,F.
Journal Eur J Med Genet 55 (3), 216-221 (2012)
Title SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome .
Author Suphapeetiporn,K., Srichomthong,C. and Shotelersuk,V.
Journal Clin. Genet. 79 (4), 391-393 (2011)
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 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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