LOCUS       NM_001362475            1236 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens cyclin dependent kinase inhibitor 1C (CDKN1C),
            transcript variant 5, mRNA.
ACCESSION   NM_001362475 XM_005252732
VERSION     NM_001362475.2
KEYWORDS    RefSeq.
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 1236)
  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 1236)
  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 1236)
  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 1236)
  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 1236)
  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 1236)
  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 1236)
  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 1236)
  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 1236)
  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 1236)
  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.
            
            On Jun 2, 2019 this sequence version replaced NM_001362475.1.
            
            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 (5) differs in the 5' UTR and uses
            an alternate splice site in the coding region, compared to variant
            1, which results in a frameshift. The encoded protein (isoform c)
            has a shorter and distinct C-terminus, compared to isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BI439109.1, ERR4352442.395899.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA2142853 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 8610162
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-142               AC013791.9         56608-56749
            143-407             AC013791.9         56917-57181
            408-543             AC013791.9         58249-58384
            544-1236            AC013791.9         58473-59165
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1236
                     /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..407
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..680
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /note="isoform c is encoded by transcript variant 5;
                     cyclin-dependent kinase inhibitor 1C (p57, Kip2);
                     cyclin-dependent kinase inhibitor p57"
                     /codon_start=1
                     /product="cyclin-dependent kinase inhibitor 1C isoform c"
                     /protein_id="NP_001349404.1"
                     /db_xref="CCDS:CCDS86169.1"
                     /db_xref="GeneID:1028"
                     /db_xref="HGNC:HGNC:1786"
                     /db_xref="MIM:600856"
                     /translation="MERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNA
                     EDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQISSPSARDQRLRSRRAM
                     SPRRVPLQAPPLAWARWSRPRARGCGEPKPKEPRGNLPGQRTLEGRWASAGTVHVAAT
                     GGGCRRAAFGFVFKF"
     exon            408..543
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /inference="alignment:Splign:2.1.0"
     exon            544..1236
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1211..1216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDKN1C"
                     /gene_synonym="BWCR; BWS; KIP2; p57; p57Kip2; WBS"
                     /note="hexamer: AATAAA"
     polyA_site      1236
                     /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 ggtgcagatt tcttcgccaa
      421 gcgcaagaga tcagcgcctg agaagtcgtc gggcgatgtc cccgcgccgt gtccctctcc
      481 aagcgccgcc cctggcgtgg gctcggtgga gcagaccccg cgcaagaggc tgcggtgagc
      541 caaagcccaa agagccccga gggaacctgc cggggcagcg gacgttggaa gggcgctggg
      601 cctcggctgg gaccgttcat gtagcagcaa ccggcggcgg ctgccgcaga gcagcgttcg
      661 gttttgtttt taaattttga aaactgtgca atgtattaat aacgtctttt tatatctaaa
      721 tgtattctgc acgagaaggt acactggtcc caaggtgtaa agctttaaga gtcatttata
      781 taaaatgttt aatctctgct gaaactcagt gcaaaaaaaa gaaaaaagaa aaaaaaaagg
      841 aaaaaataaa aaaaccatgt atatttgtac aaaaagtttt taaagttata ctaacttata
      901 ttttctattt atgtccaggc gtggaccgct ctgccacgca ctagctcggt tattggttat
      961 gccaaaggca ctctccatct cccacatctg gttattgaca agtgtaactt tattttcatc
     1021 gcggactctg gggaaggggg tcactcacaa gctgtagctg ccatacatgc ccatctagct
     1081 tgcagtctct tcgcgctttc gctgtctctc ttattatgac tgtgtttatc tgaaacttga
     1141 agacaagtct gttaaaatgg ttcctgagcc gtctgtacca ctgccccggc ccctcgtccg
     1201 ccgggttcta aataaagagg ccgaaaaatg ctgcaa
//
