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Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000076 Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000076.2, 169790897
Length 1943 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 1, mRNA.
Product cyclin-dependent kinase inhibitor 1C isoform a
Comment

Summary: This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

RefSeq NP_000067.1
CDS 277..1227
Misc Feature(1)34..36
Misc Feature(2)367..525
Misc Feature(3)367..525
Misc Feature(4)742..915
Misc Feature(5)1078..1080
Misc Feature(6)1108..1119
Exon (1)1..1096
Gene:CDKN1C
Gene Synonym:BWCR; BWS; KIP2; p57; p57Kip2; WBS
Exon (2)1097..1232
Gene:CDKN1C
Gene Synonym:BWCR; BWS; KIP2; p57; p57Kip2; WBS
Exon (3)1233..1930
Gene:CDKN1C
Gene Synonym:BWCR; BWS; KIP2; p57; p57Kip2; WBS
Translation MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNR WDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLE PAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAAPVAVAVLAP APAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSA APGVGSVEQTPRKRLR
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Position Chain Variation Link
complement(11)-t, cdbSNP:147317732
complement(129)-g, adbSNP:1054463
complement(192)-t, cdbSNP:143992355
complement(193)-t, cdbSNP:188494894
complement(287)-g, adbSNP:201368350
complement(293)-g, adbSNP:201715947
complement(348)-t, cdbSNP:3852522
complement(408)-g, adbSNP:149717696
complement(415)-t, cdbSNP:137852766
complement(522)-t, cdbSNP:141005361
complement(556)-t, adbSNP:400377
complement(728)-g, adbSNP:385101
complement(752)-g, adbSNP:372633
complement(795)-t, gdbSNP:399771
complement(815)-g, adbSNP:113374868
complement(831)-g, adbSNP:191294997
complement(837)-g, adbSNP:384713
complement(843)-g, adbSNP:112196492
complement(869)-g, cdbSNP:2583439
complement(887)-g, cdbSNP:2583440
complement(893)-g, cdbSNP:1182342
complement(926)-t, adbSNP:3741342
complement(984)-t, cdbSNP:3741341
complement(1016)-c, adbSNP:104894200
1121+dbSNP:
1121+a, c, gdbSNP:267606716
complement(1179)-c, adbSNP:1802775
complement(1341)-dbSNP:
complement(1341)-g, cdbSNP:11550171
complement(1378)-t, cdbSNP:13563
complement(1505)-t, cdbSNP:1052593
complement(1513..1514)-, tdbSNP:71814716
complement(1531..1532)-, tdbSNP:71777161
complement(1678)-t, gdbSNP:12801085
complement(1679)-t, gdbSNP:12793537
complement(1751)-g, cdbSNP:181826383
Gene SymbolCDKN1C
Gene SynonymBWCR; BWS; KIP2; p57; p57Kip2; WBS
Chromosome11
Locus Map11p15.5
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000076 Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 1, mRNA. On-demand TBD TBD
NM_001122630 Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 2, mRNA. On-demand TBD TBD
NM_001122631 Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 3, mRNA. On-demand TBD TBD
Title Diagnostic reproducibility of hydatidiform moles: ancillary techniques (p57 immunohistochemistry and molecular genotyping) improve morphologic diagnosis for both recently trained and experienced gynecologic pathologists .
Author Gupta,M., Vang,R., Yemelyanova,A.V., Kurman,R.J., Li,F.R., Maambo,E.C., Murphy,K.M., DeScipio,C., Thompson,C.B. and Ronnett,B.M.
Journal Am. J. Surg. Pathol. 36 (12), 1747-1760 (2012)
Title CDKN1C/P57 is regulated by the Notch target gene Hes1 and induces senescence in human hepatocellular carcinoma .
Author Giovannini,C., Gramantieri,L., Minguzzi,M., Fornari,F., Chieco,P., Grazi,G.L. and Bolondi,L.
Journal Am. J. Pathol. 181 (2), 413-422 (2012)
Title Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome .
Author Arboleda,V.A., Lee,H., Parnaik,R., Fleming,A., Banerjee,A., Ferraz-de-Souza,B., Delot,E.C., Rodriguez-Fernandez,I.A., Braslavsky,D., Bergada,I., Dell'Angelica,E.C., Nelson,S.F., Martinez-Agosto,J.A., Achermann,J.C. and Vilain,E.
Journal Nat. Genet. 44 (7), 788-792 (2012)
Title Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine .
Author Robbins,K.M., Chen,Z., Wells,K.D. and Rivera,R.M.
Journal J. Biomed. Sci. 19, 95 (2012)
Title p57(KIP2) control of actin cytoskeleton dynamics is responsible for its mitochondrial pro-apoptotic effect .
Author Kavanagh,E., Vlachos,P., Emourgeon,V., Rodhe,J. and Joseph,B.
Journal Cell Death Dis 3, E311 (2012)
Title Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15 .
Author Matsuoka,S., Thompson,J.S., Edwards,M.C., Bartletta,J.M., Grundy,P., Kalikin,L.M., Harper,J.W., Elledge,S.J. and Feinberg,A.P.
Journal Proc. Natl. Acad. Sci. U.S.A. 93 (7), 3026-3030 (1996)
Title Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay .
Author Reid,L.H., Crider-Miller,S.J., West,A., Lee,M.H., Massague,J. and Weissman,B.E.
Journal Cancer Res. 56 (6), 1214-1218 (1996)
Title p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene .
Author Matsuoka,S., Edwards,M.C., Bai,C., Parker,S., Zhang,P., Baldini,A., Harper,J.W. and Elledge,S.J.
Journal Genes Dev. 9 (6), 650-662 (1995)
Title Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution .
Author Lee,M.H., Reynisdottir,I. and Massague,J.
Journal Genes Dev. 9 (6), 639-649 (1995)
Title Genes associated with tumor suppression and growth control in the human nervous system .
Author Seizinger,B.R.
Journal Cancer Metastasis Rev. 10 (4), 281-287 (1991)


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