LOCUS       NM_001122630            1773 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens cyclin dependent kinase inhibitor 1C (CDKN1C),
            transcript variant 2, mRNA.
ACCESSION   NM_001122630
VERSION     NM_001122630.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1773)
  AUTHORS   George,A.M., Viswanathan,A., Best,L.G., Monahan,C., Limmina,M.,
            Ganguly,A. and Kalish,J.M.
  TITLE     Expanded phenotype and cancer risk in patients with
            Beckwith-Wiedemann spectrum caused by CDKN1C variants
  JOURNAL   Am J Med Genet A 194 (10), e63777 (2024)
   PUBMED   38822599
  REMARK    GeneRIF: Expanded phenotype and cancer risk in patients with
            Beckwith-Wiedemann spectrum caused by CDKN1C variants.
REFERENCE   2  (bases 1 to 1773)
  AUTHORS   Li,X., Shao,L.Z., Li,Z.H., Wang,Y.H., Cai,Q.Y., Wang,S., Chen,H.,
            Sheng,J., Luo,X., Chen,X.M., Wang,Y.X., Ding,Y.B. and Liu,T.H.
  TITLE     STK40 inhibits trophoblast fusion by mediating COP1 ubiquitination
            to degrade P57Kip2
  JOURNAL   J Transl Med 22 (1), 852 (2024)
   PUBMED   39304928
  REMARK    GeneRIF: STK40 inhibits trophoblast fusion by mediating COP1
            ubiquitination to degrade P57[Kip2].
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1773)
  AUTHORS   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.
  TITLE     Imprinting of the gene encoding a human cyclin-dependent kinase
            inhibitor, p57KIP2, on chromosome 11p15
  JOURNAL   Proc Natl Acad Sci U S A 93 (7), 3026-3030 (1996)
   PUBMED   8610162
  REMARK    GeneRIF: CDKN1C gene is imprinted, with preferential expression
            from the maternal allele.
REFERENCE   4  (bases 1 to 1773)
  AUTHORS   Lee,M.H., Reynisdottir,I. and Massague,J.
  TITLE     Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique
            domain structure and tissue distribution
  JOURNAL   Genes Dev 9 (6), 639-649 (1995)
   PUBMED   7729683
REFERENCE   5  (bases 1 to 1773)
  AUTHORS   Schrier Vergano,S.A. and Deardorff,M.A.
  TITLE     IMAGe Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24624461
REFERENCE   6  (bases 1 to 1773)
  AUTHORS   Shuman,C., Kalish,J.M. and Weksberg,R.
  TITLE     Beckwith-Wiedemann Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301568
REFERENCE   7  (bases 1 to 1773)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   8  (bases 1 to 1773)
  AUTHORS   Saal,H.M., Harbison,M.D. and Netchine,I.
  TITLE     Silver-Russell Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301499
REFERENCE   9  (bases 1 to 1773)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301471
REFERENCE   10 (bases 1 to 1773)
  AUTHORS   Seizinger,B.R.
  TITLE     Genes associated with tumor suppression and growth control in the
            human nervous system
  JOURNAL   Cancer Metastasis Rev 10 (4), 281-287 (1991)
   PUBMED   1786629
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013791.9, BC039188.1,
            U22398.1 and CD676249.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001122630.1.
            
            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 (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a. Variants 2 and 3
            both encode isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU570054.1, DRR138524.395164.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 8610162
            MANE Ensembl match     :: ENST00000440480.8/ ENSP00000411257.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC013791.9         56608-56617
            11-673              BC039188.1         1-663
            674-674             AC013791.9         57448-57448
            675-1290            U22398.1           816-1431
            1291-1773           CD676249.1         18-500              c
FEATURES             Location/Qualifiers
     source          1..1773
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1773
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /note="cyclin dependent kinase inhibitor 1C"
                     /db_xref="GeneID:1028"
                     /db_xref="HGNC:HGNC:1786"
                     /db_xref="MIM:600856"
     exon            1..142
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /inference="alignment:Splign:2.1.0"
     exon            143..939
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..1070
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /note="isoform b is encoded by transcript variant 2;
                     cyclin-dependent kinase inhibitor 1C (p57, Kip2);
                     cyclin-dependent kinase inhibitor p57"
                     /codon_start=1
                     /product="cyclin-dependent kinase inhibitor 1C isoform b"
                     /protein_id="NP_001116102.1"
                     /db_xref="CCDS:CCDS44519.1"
                     /db_xref="GeneID:1028"
                     /db_xref="HGNC:HGNC:1786"
                     /db_xref="MIM:600856"
                     /translation="MERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNA
                     EDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAV
                     AVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAA
                     PVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGAN
                     QGQRGQEPLADQLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKS
                     SGDVPAPCPSPSAAPGVGSVEQTPRKRLR"
     exon            940..1075
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1773
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1748..1753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /note="hexamer: AATAAA"
     polyA_site      1773
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /note="major polyA site"
ORIGIN      
        1 ccacaggcca agtgcgctgt gctcgagggg tgccggccag gcctgagcga gcgagctagc
       61 cagcaggcat cgagggggcg cggctgccgt ccggacgaga caggcgaacc cgacgcagaa
      121 gagtccacca ccggacagcc agcacatcca cgatggagcg tcttgtcgcc cgtgggacct
      181 tcccagtact agtgcgcacc agcgcctgcc gcagcctctt cgggccggtg gaccacgagg
      241 agctgagccg cgagctgcag gcccgcctgg ccgagctgaa cgccgaggac cagaaccgct
      301 gggattacga cttccagcag gacatgccgc tgcggggccc tggacgcctg cagtggaccg
      361 aagtggacag cgactcggtg cccgcgttct accgcgagac ggtgcaggtg gggcgctgcc
      421 gcctgctgct ggcgccgcgg cccgtcgcgg tcgcggtggc tgtcagcccg cccctcgagc
      481 cggccgctga gtccctcgac ggcctcgagg aggcgccgga gcagctgcct agtgtcccgg
      541 tcccggcccc ggcgtccacc ccgcccccag tcccggtcct ggctccagcc ccggccccgg
      601 ctccggctcc ggtcgcggct ccggtcgcgg ctccggtcgc ggtcgcggtc ctggccccgg
      661 ccccggcccc ggctccggct ccggctccgg ccccggctcc agtcgcggcc ccggccccag
      721 ccccggcccc ggccccggcc ccggcccccg ccccggcccc ggccccggac gcggcgcctc
      781 aagagagcgc cgagcagggc gcgaaccagg ggcagcgcgg ccaggagcct ctcgctgacc
      841 agctgcactc ggggatttcg ggacgtcccg cggccggcac cgcggccgcc agcgccaacg
      901 gcgcggcgat caagaagctg tccgggcctc tgatctccga tttcttcgcc aagcgcaaga
      961 gatcagcgcc tgagaagtcg tcgggcgatg tccccgcgcc gtgtccctct ccaagcgccg
     1021 cccctggcgt gggctcggtg gagcagaccc cgcgcaagag gctgcggtga gccaatttag
     1081 agcccaaaga gccccgaggg aacctgccgg ggcagcggac gttggaaggg cgctgggcct
     1141 cggctgggac cgttcatgta gcagcaaccg gcggcggctg ccgcagagca gcgttcggtt
     1201 ttgtttttaa attttgaaaa ctgtgcaatg tattaataac gtctttttat atctaaatgt
     1261 attctgcacg agaaggtaca ctggtcccaa ggtgtaaagc tttaagagtc atttatataa
     1321 aatgtttaat ctctgctgaa actcagtgca aaaaaaagaa aaaagaaaaa aaaaaggaaa
     1381 aaataaaaaa accatgtata tttgtacaaa aagtttttaa agttatacta acttatattt
     1441 tctatttatg tccaggcgtg gaccgctctg ccacgcacta gctcggttat tggttatgcc
     1501 aaaggcactc tccatctccc acatctggtt attgacaagt gtaactttat tttcatcgcg
     1561 gactctgggg aagggggtca ctcacaagct gtagctgcca tacatgccca tctagcttgc
     1621 agtctcttcg cgctttcgct gtctctctta ttatgactgt gtttatctga aacttgaaga
     1681 caagtctgtt aaaatggttc ctgagccgtc tgtaccactg ccccggcccc tcgtccgccg
     1741 ggttctaaat aaagaggccg aaaaatgctg caa
//
