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Database:

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Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003036 Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

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RefSeq Version NM_003036.3, 224465161
Length 5707 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.
Product ski oncogene
Comment

Summary: This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_003027.1
CDS 73..2259
Misc Feature(1)358..648
Misc Feature(2)358..648
Misc Feature(3)727..1008
Misc Feature(4)1510..1512
Misc Feature(5)<1699..1887
Exon (1)1..1041
Gene:SKI
Gene Synonym:SGS; SKV
Exon (2)1042..1167
Gene:SKI
Gene Synonym:SGS; SKV
Exon (3)1168..1283
Gene:SKI
Gene Synonym:SGS; SKV
Exon (4)1284..1546
Gene:SKI
Gene Synonym:SGS; SKV
Exon (5)1547..1839
Gene:SKI
Gene Synonym:SGS; SKV
Exon (6)1840..2070
Gene:SKI
Gene Synonym:SGS; SKV
Exon (7)2071..5707
Gene:SKI
Gene Synonym:SGS; SKV
Translation MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAV PAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKR LCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKT DAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSP SAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARL GRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLA GSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVA LAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDS EAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEA ELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKE KLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLR AKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGS EGAAELEP
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Position Chain Variation Link
18+dbSNP:
18+c, gdbSNP:2945574
171+c, gdbSNP:200019352
257+c, gdbSNP:28384811
319+c, tdbSNP:201590284
360+c, tdbSNP:113737327
366+c, tdbSNP:115746142
396+a, gdbSNP:201144990
468+a, cdbSNP:150306072
489+c, tdbSNP:144874401
528+c, tdbSNP:149898447
536+c, gdbSNP:146977985
588+c, tdbSNP:182513685
681+a, gdbSNP:41310345
712+a, gdbSNP:139179843
798+c, tdbSNP:139227600
834+c, tdbSNP:56352201
870+c, tdbSNP:149642284
871+c, tdbSNP:140178396
883+a, cdbSNP:201274840
911+a, gdbSNP:201251918
1050+dbSNP:
1050+g, tdbSNP:148432960
1105+a, gdbSNP:150934009
1106+c, tdbSNP:201599402
1113+c, tdbSNP:140745811
1142+a, gdbSNP:200874294
1152+c, tdbSNP:200557598
1178+dbSNP:
1178+a, gdbSNP:147857890
1181+c, tdbSNP:138088528
1224+c, tdbSNP:200160702
1235+c, tdbSNP:75280988
1268+c, tdbSNP:141862996
1346+dbSNP:
1346+c, tdbSNP:199997665
1374+a, gdbSNP:111459205
1380+c, tdbSNP:139034124
1383+c, tdbSNP:140889128
1393+c, tdbSNP:201613746
1401+c, tdbSNP:150033567
1410+c, tdbSNP:148632347
1419+c, gdbSNP:202214883
1454+c, tdbSNP:141464453
1456+c, gdbSNP:199797772
1482+c, tdbSNP:150985728
1512+a, gdbSNP:185754530
1518+a, gdbSNP:114345135
1528+a, gdbSNP:200717031
1535+a, gdbSNP:138232805
1553+dbSNP:
1553+c, gdbSNP:12403174
1599+c, tdbSNP:111935632
1600+a, gdbSNP:61735580
1645+a, gdbSNP:141961299
1665+c, tdbSNP:144279718
1707+g, tdbSNP:147353707
1783+a, gdbSNP:190373826
1806+c, tdbSNP:117443908
1857+dbSNP:
1857+c, gdbSNP:199727876
1894+a, gdbSNP:149105394
1906+a, gdbSNP:35833638
1923+a, gdbSNP:146789646
1935+c, tdbSNP:200702159
1962+a, cdbSNP:138346316
1978+c, tdbSNP:143354709
1980+c, tdbSNP:182417640
1995+a, gdbSNP:199666240
2022+c, tdbSNP:113979182
2046+c, tdbSNP:201895384
2134+dbSNP:
2134+a, gdbSNP:1062631
2292+a, tdbSNP:2230008
2298+a, gdbSNP:191800649
2399..2400+, gtdbSNP:3835420
2615+a, c, tdbSNP:72642140
2634+a, cdbSNP:184330809
2637+a, gdbSNP:188831690
2681..2682+, gdbSNP:34954223
2782+a, gdbSNP:116161617
2871+c, tdbSNP:193024082
2886+c, tdbSNP:185708310
2951+a, gdbSNP:74600869
2964+c, tdbSNP:139981381
3106+c, tdbSNP:189028750
3120+c, tdbSNP:72920922
3164+a, gdbSNP:115194060
3216+g, tdbSNP:180799523
3498+c, tdbSNP:183885298
3617+c, tdbSNP:188655097
3639+a, gdbSNP:3765931
3670+a, gdbSNP:148901982
3674+c, gdbSNP:181405262
3707+c, tdbSNP:142729543
3983+c, tdbSNP:146521575
4061+c, tdbSNP:2173049
4096..4097+, tdbSNP:113293239
4108+c, tdbSNP:140979905
4129+a, gdbSNP:79907870
4141+a, cdbSNP:144783657
4196+a, gdbSNP:138562685
4286+c, gdbSNP:34085168
4288+a, cdbSNP:35005443
4311+a, tdbSNP:35471664
4330+g, tdbSNP:34066789
4381..4382+, gdbSNP:34975980
4398+c, g, tdbSNP:111973305
4438+a, gdbSNP:2843157
4469..4470+, cdbSNP:35771060
4509+c, gdbSNP:78207415
4520+a, tdbSNP:113784820
4522+a, gdbSNP:185935070
4561+c, tdbSNP:117433242
4627+c, tdbSNP:191880690
4656+a, gdbSNP:112501347
4688+a, cdbSNP:55795457
4735+c, tdbSNP:140239034
4962+, adbSNP:34233545
5121..5122+, gdbSNP:36195466
5159+c, gdbSNP:7527543
5160+c, tdbSNP:181984476
5275..5276+, cdbSNP:71758303
5314+, cdbSNP:71659618
5388+a, gdbSNP:183394288
5399+c, tdbSNP:112043297
5431..5432+, tdbSNP:112413214
5432..5433+, t, ttdbSNP:67122436
5441..5442+, a, aadbSNP:35148324
5441..5442+, ttdbSNP:200812472
5521+c, tdbSNP:187470528
5523..5524+, adbSNP:140141421
5576+c, tdbSNP:137933830
Gene SymbolSKI
Gene SynonymSGS; SKV
Chromosome1
Locus Map1p36.33
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003036 Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA. On-demand TBD TBD
Title In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome .
Author Carmignac,V., Thevenon,J., Ades,L., Callewaert,B., Julia,S., Thauvin-Robinet,C., Gueneau,L., Courcet,J.B., Lopez,E., Holman,K., Renard,M., Plauchu,H., Plessis,G., De Backer,J., Child,A., Arno,G., Duplomb,L., Callier,P., Aral,B., Vabres,P., Gigot,N., Arbustini,E., Grasso,M., Robinson,P.N., Goizet,C., Baumann,C., Di Rocco,M., Sanchez Del Pozo,J., Huet,F., Jondeau,G., Collod-Beroud,G., Beroud,C., Amiel,J., Cormier-Daire,V., Riviere,J.B., Boileau,C., De Paepe,A. and Faivre,L.
Journal Am. J. Hum. Genet. 91 (5), 950-957 (2012)
Title Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm .
Author Doyle,A.J., Doyle,J.J., Bessling,S.L., Maragh,S., Lindsay,M.E., Schepers,D., Gillis,E., Mortier,G., Homfray,T., Sauls,K., Norris,R.A., Huso,N.D., Leahy,D., Mohr,D.W., Caulfield,M.J., Scott,A.F., Destree,A., Hennekam,R.C., Arn,P.H., Curry,C.J., Van Laer,L., McCallion,A.S., Loeys,B.L. and Dietz,H.C.
Journal Nat. Genet. 44 (11), 1249-1254 (2012)
Title Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate .
Author Mangold,E., Reutter,H., Leon-Cachon,R.B., Ludwig,K.U., Herms,S., Chacon-Camacho,O., Ortiz-Lopez,R., Paredes-Zenteno,M., Arizpe-Cantu,A., Munoz-Jimenez,S.G., Nowak,S., Kramer,F.J., Wienker,T.F., Nothen,M.M., Knapp,M. and Rojas-Martinez,A.
Journal Eur. J. Oral Sci. 120 (5), 373-377 (2012)
Title Overexpression of SKI oncoprotein leads to p53 degradation through regulation of MDM2 protein sumoylation .
Author Ding,B., Sun,Y. and Huang,J.
Journal J. Biol. Chem. 287 (18), 14621-14630 (2012)
Title The GATA1s isoform is normally down-regulated during terminal haematopoietic differentiation and over-expression leads to failure to repress MYB, CCND2 and SKI during erythroid differentiation of K562 cells .
Author Halsey,C., Docherty,M., McNeill,M., Gilchrist,D., Le Brocq,M., Gibson,B. and Graham,G.
Journal J Hematol Oncol 5, 45 (2012)
Title DNA binding and transcriptional activation by the Ski oncoprotein mediated by interaction with NFI .
Author Tarapore,P., Richmond,C., Zheng,G., Cohen,S.B., Kelder,B., Kopchick,J., Kruse,U., Sippel,A.E., Colmenares,C. and Stavnezer,E.
Journal Nucleic Acids Res. 25 (19), 3895-3903 (1997)
Title SnoI, a novel alternatively spliced isoform of the ski protooncogene homolog, sno .
Author Pearson-White,S.
Journal Nucleic Acids Res. 21 (19), 4632-4638 (1993)
Title Complex formation between proteins encoded by the ski gene family .
Author Nagase,T., Nomura,N. and Ishii,S.
Journal J. Biol. Chem. 268 (18), 13710-13716 (1993)
Title Isolation of human cDNA clones of ski and the ski-related gene, sno .
Author Nomura,N., Sasamoto,S., Ishii,S., Date,T., Matsui,M. and Ishizaki,R.
Journal Nucleic Acids Res. 17 (14), 5489-5500 (1989)
Title The cellular homologue of the transforming gene of SKV avian retrovirus maps to human chromosome region 1q22----q24 .
Author Chaganti,R.S., Balazs,I., Jhanwar,S.C., Murty,V.V., Koduru,P.R., Grzeschik,K.H. and Stavnezer,E.
Journal Cytogenet. Cell Genet. 43 (3-4), 181-186 (1986)


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