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Database:

Blast Method:

 
 


Homo sapiens SMAD family member 4 (SMAD4), mRNA.


RefSeq Accession Definition Services Price Order
NM_005359 Homo sapiens SMAD family member 4 (SMAD4), mRNA. ORF Sequence $481.11
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_005359.5, 195963400
Length 8789 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens SMAD family member 4 (SMAD4), mRNA.
Product mothers against decapentaplegic homolog 4
Comment

Summary: This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009].


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_005350.1
CDS 539..2197
Misc Feature(1)518..520
Misc Feature(2)578..952
Misc Feature(3)578..952
Misc Feature(4)647..649
Misc Feature(5)order(650..652,662..664,671..673,767..772,779..793,
Misc Feature(6)order(749..751,881..883,917..919,932..934)
Misc Feature(7)875..877
Misc Feature(8)875..877
Misc Feature(9)1013..1015
Misc Feature(10)1013..1015
Misc Feature(11)1361..1498
Misc Feature(12)1367..1369
Misc Feature(13)1496..2161
Misc Feature(14)order(1523..1525,1532..1534,1547..1552,1595..1609,
Misc Feature(15)1820..1822
Misc Feature(16)2057..2059
Misc Feature(17)2081..2083
Exon (1)1..411
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (2)412..787
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (3)788..962
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (4)963..992
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (5)993..1205
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (6)1206..1325
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (7)1326..1442
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (8)1443..1493
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (9)1494..1677
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (10)1678..1846
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (11)1847..1985
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Exon (12)1986..8772
Gene:SMAD4
Gene Synonym:DPC4; JIP; MADH4; MYHRS
Translation MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITA ITTNGAHPSKCVTIQRTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFD LKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGH YWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGD RFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGR APGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVL HTMPIADPQPLD
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Position Chain Variation Link
508+dbSNP:
508+a, tdbSNP:200236229
559+a, gdbSNP:142292491
576+a, gdbSNP:281875323
640+a, gdbSNP:146104321
718+c, tdbSNP:201239868
832+dbSNP:
832+c, tdbSNP:202126703
839+g, tdbSNP:2229083
892+a, gdbSNP:145988618
907+c, tdbSNP:140926102
925+c, tdbSNP:150229208
949+a, gdbSNP:201296880
1002+dbSNP:
1002+a, gdbSNP:199790852
1048+a, gdbSNP:144226135
1059+a, cdbSNP:138800446
1103+c, tdbSNP:140743238
1106+c, gdbSNP:61751988
1108+a, cdbSNP:200717327
1120+a, gdbSNP:145805120
1145+a, cdbSNP:199809905
1185+a, gdbSNP:138386557
1198+c, tdbSNP:112891188
1224+dbSNP:
1224+g, tdbSNP:75667697
1347+dbSNP:
1347+a, gdbSNP:143082783
1390+a, gdbSNP:144378484
1418+a, gdbSNP:7238500
1447+dbSNP:
1447+c, tdbSNP:141149381
1527+a, gdbSNP:281875324
1592+a, gdbSNP:121912581
1610+g, tdbSNP:121912576
1619+c, tdbSNP:80338963
1624+c, tdbSNP:1801250
1644+a, gdbSNP:139569694
1658+a, gdbSNP:201092541
1695+dbSNP:
1695+a, gdbSNP:121912580
1700+c, tdbSNP:80338964
1756+a, c, gdbSNP:145097078
1757+c, gdbSNP:147621330
1774+c, gdbSNP:121912577
1782..1785+, acagdbSNP:80338965
1930+dbSNP:
1930+c, tdbSNP:140487104
2015+dbSNP:
2015+c, gdbSNP:121912578
2036+a, gdbSNP:281875322
2037+c, tdbSNP:281875321
2038+a, gdbSNP:281875320
2081+a, tdbSNP:121912579
2111+a, gdbSNP:149755320
2173+g, tdbSNP:200595795
2185+a, gdbSNP:113545983
2191+a, gdbSNP:199526820
2208+c, tdbSNP:11663402
2209+a, gdbSNP:148687037
2288+c, gdbSNP:1049875
2377..2378+, tdbSNP:199787250
2609+a, gdbSNP:28403611
2659+a, gdbSNP:191822473
2780+g, tdbSNP:142236156
2786+a, gdbSNP:79955608
2882+a, cdbSNP:16952798
3005+a, gdbSNP:183984903
3031+c, tdbSNP:190076139
3063..3064+, adbSNP:35675831
3366..3370+, ccatcdbSNP:138404813
3376+a, gdbSNP:10470
3384+a, gdbSNP:181664459
3553+g, tdbSNP:78407704
3556+a, gdbSNP:185104256
3607+a, cdbSNP:199846258
3654..3655+, gdbSNP:34542515
3710+a, tdbSNP:75142398
3815+a, gdbSNP:56734884
3866+a, tdbSNP:145643623
3881+a, cdbSNP:146563723
3949+a, tdbSNP:79279451
4017+g, tdbSNP:141309481
4029+c, tdbSNP:190742750
4049+a, cdbSNP:182092812
4063+a, gdbSNP:4940037
4091+c, tdbSNP:185229497
4126..4127+, ttdbSNP:151147707
4138+g, tdbSNP:138909220
4207+a, gdbSNP:12327465
4319+a, gdbSNP:149424787
4469+c, gdbSNP:189547031
4532+a, gdbSNP:181201259
4558+a, gdbSNP:143842829
4685+a, tdbSNP:148190627
4698+a, gdbSNP:185349233
4859+a, tdbSNP:191637734
4884+a, gdbSNP:78321956
4993+g, tdbSNP:4939651
5111+c, tdbSNP:147352474
5116+a, gdbSNP:183785604
5124+a, gdbSNP:186751378
5167+a, gdbSNP:192485057
5186+a, gdbSNP:139526377
5215..5216+, cdbSNP:35658729
5230..5231+, gtttttttdbSNP:144777629
5400+c, gdbSNP:183255810
5412+g, tdbSNP:186807250
5485+c, tdbSNP:191317135
5595+a, gdbSNP:182735651
5859+c, tdbSNP:114852346
5948..5949+, tdbSNP:202070730
5957+c, tdbSNP:12961857
6415+a, gdbSNP:143563979
6418+g, tdbSNP:150556996
6628+c, tdbSNP:188404885
6779..6780+, adbSNP:138276731
6782+c, gdbSNP:192635281
6883+a, gdbSNP:185468281
6917+a, gdbSNP:189948351
6950+c, tdbSNP:112739300
7044+a, gdbSNP:192532745
7059+a, gdbSNP:139595540
7078+c, tdbSNP:184516281
7136..7137+, cdbSNP:34159851
7165+c, tdbSNP:149743165
7184+g, tdbSNP:188228460
7190..7191+, tdbSNP:113155703
7280+a, gdbSNP:145596898
7328+a, gdbSNP:12456284
7367+c, tdbSNP:117142232
7393+a, tdbSNP:74878872
7456+a, tdbSNP:139414609
7556+c, tdbSNP:144187949
7585+c, tdbSNP:180715759
7616+c, tdbSNP:146551171
7728..7735+, gcgcacgcdbSNP:112458358
7728..7733+, gcgcacdbSNP:147193925
7729..7736+, cgcacgcgdbSNP:71729176
7732+acgcgcgcgcgcgcacaca, gcgdbSNP:74169183
7732+a, gdbSNP:75712226
7733..7734+, cgdbSNP:147683428
7734..7735+, gcdbSNP:71848207
7735..7748+, cgcgcgcgcacacadbSNP:144218127
7743..7744+, caca, cg, gcdbSNP:68159021
7744+a, gdbSNP:11662245
7747..7752+, cacacadbSNP:71662571
7748..7753+, acacacdbSNP:72363283
7748+a, gdbSNP:202140561
7774..7775+, cacadbSNP:56017493
7823+c, gdbSNP:75998234
7824+a, gdbSNP:185010226
7827..7830+, cacadbSNP:146919169
7886..7888+, attdbSNP:149335502
8030+a, gdbSNP:190039588
8058..8062+, aagaadbSNP:140241965
8058+, aagaadbSNP:71659492
8060+c, gdbSNP:200482328
8064+, gaaaadbSNP:78989198
8184+a, tdbSNP:12954419
8191+g, tdbSNP:3819122
8206+c, gdbSNP:181250637
8259+g, tdbSNP:12959147
8261+g, tdbSNP:12960005
8347+c, tdbSNP:187018810
8376..8377+, adbSNP:35671610
8405+c, tdbSNP:191403347
8606+a, gdbSNP:76830638
8620+c, gdbSNP:2282544
8710+c, tdbSNP:76020793
8719+c, tdbSNP:183472455
Gene SymbolSMAD4
Gene SynonymDPC4; JIP; MADH4; MYHRS
Chromosome18
Locus Map18q21.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_005359 Homo sapiens SMAD family member 4 (SMAD4), mRNA. Full Length Quote
ORF Sequence $481.11
Title SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer .
Author Fleming,N.I., Jorissen,R.N., Mouradov,D., Christie,M., Sakthianandeswaren,A., Palmieri,M., Day,F., Li,S., Tsui,C., Lipton,L., Desai,J., Jones,I.T., McLaughlin,S., Ward,R.L., Hawkins,N.J., Ruszkiewicz,A.R., Moore,J., Zhu,H.J., Mariadason,J.M., Burgess,A.W., Busam,D., Zhao,Q., Strausberg,R.L., Gibbs,P. and Sieber,O.M.
Journal Cancer Res. 73 (2), 725-735 (2013)
Title Tif1gamma is essential for the terminal differentiation of mammary alveolar epithelial cells and for lactation through SMAD4 inhibition .
Author Hesling,C., Lopez,J., Fattet,L., Gonzalo,P., Treilleux,I., Blanchard,D., Losson,R., Goffin,V., Pigat,N., Puisieux,A., Mikaelian,I., Gillet,G. and Rimokh,R.
Journal Development 140 (1), 167-175 (2013)
Title MicroRNA-204-5p regulates epithelial-to-mesenchymal transition during human posterior capsule opacification by targeting SMAD4 .
Author Wang,Y., Li,W., Zang,X., Chen,N., Liu,T., Tsonis,P.A. and Huang,Y.
Journal Invest. Ophthalmol. Vis. Sci. 54 (1), 323-332 (2013)
Title Targeted deletion of Smad4 shows it is required for transforming growth factor beta and activin signaling in colorectal cancer cells .
Author Zhou,S., Buckhaults,P., Zawel,L., Bunz,F., Riggins,G., Dai,J.L., Kern,S.E., Kinzler,K.W. and Vogelstein,B.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (5), 2412-2416 (1998)
Title Human Smad3 and Smad4 are sequence-specific transcription activators .
Author Zawel,L., Dai,J.L., Buckhaults,P., Zhou,S., Kinzler,K.W., Vogelstein,B. and Kern,S.E.
Journal Mol. Cell 1 (4), 611-617 (1998)
Title Nomenclature: vertebrate mediators of TGFbeta family signals .
Author Derynck,R., Gelbart,W.M., Harland,R.M., Heldin,C.H., Kern,S.E., Massague,J., Melton,D.A., Mlodzik,M., Padgett,R.W., Roberts,A.B., Smith,J., Thomsen,G.H., Vogelstein,B. and Wang,X.F.
Journal Cell 87 (2), 173 (1996)
Title Receptor-associated Mad homologues synergize as effectors of the TGF-beta response .
Author Zhang,Y., Feng,X., We,R. and Derynck,R.
Journal Nature 383 (6596), 168-172 (1996)
Title DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1 .
Author Hahn,S.A., Schutte,M., Hoque,A.T., Moskaluk,C.A., da Costa,L.T., Rozenblum,E., Weinstein,C.L., Fischer,A., Yeo,C.J., Hruban,R.H. and Kern,S.E.
Journal Science 271 (5247), 350-353 (1996)
Title E2F-4, a new member of the E2F gene family, has oncogenic activity and associates with p107 in vivo .
Author Beijersbergen,R.L., Kerkhoven,R.M., Zhu,L., Carlee,L., Voorhoeve,P.M. and Bernards,R.
Journal Genes Dev. 8 (22), 2680-2690 (1994)
Title E2F-4, a new member of the E2F transcription factor family, interacts with p107 .
Author Ginsberg,D., Vairo,G., Chittenden,T., Xiao,Z.X., Xu,G., Wydner,K.L., DeCaprio,J.A., Lawrence,J.B. and Livingston,D.M.
Journal Genes Dev. 8 (22), 2665-2679 (1994)

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