LOCUS       NM_001126049            4376 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens killin, p53 regulated DNA replication inhibitor
            (KLLN), mRNA.
ACCESSION   NM_001126049
VERSION     NM_001126049.2
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 4376)
  AUTHORS   Yao,B., Xing,M., Meng,S., Li,S., Zhou,J., Zhang,M., Yang,C., Qu,S.,
            Jin,Y., Yuan,H., Zen,K. and Ma,C.
  TITLE     EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer
            Progression via Upregulating KLLN
  JOURNAL   Adv Sci (Weinh) 11 (2), e2302037 (2024)
   PUBMED   38015024
  REMARK    GeneRIF: EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic
            Cancer Progression via Upregulating KLLN.
REFERENCE   2  (bases 1 to 4376)
  AUTHORS   Razavi,S.A., Salehipour,P., Gholami,H., Sheikholeslami,S.,
            Zarif-Yeganeh,M., Yaghmaei,P., Modarressi,M.H. and Hedayati,M.
  TITLE     New evidence on tumor suppressor activity of PTEN and KLLN in
            papillary thyroid carcinoma
  JOURNAL   Pathol Res Pract 225, 153586 (2021)
   PUBMED   34425332
  REMARK    GeneRIF: New evidence on tumor suppressor activity of PTEN and KLLN
            in papillary thyroid carcinoma.
REFERENCE   3  (bases 1 to 4376)
  AUTHORS   Chen,R., Wang,M., Fu,S., Cao,F., Duan,P. and Lu,J.
  TITLE     MicroRNA-204 may participate in the pathogenesis of
            hypoxic-ischemic encephalopathy through targeting KLLN
  JOURNAL   Exp Ther Med 18 (5), 3299-3306 (2019)
   PUBMED   31602202
REFERENCE   4  (bases 1 to 4376)
  AUTHORS   Wang,C., Zong,J., Li,Y., Wang,X., Du,W. and Li,L.
  TITLE     MiR-744-3p regulates keratinocyte proliferation and differentiation
            via targeting KLLN in psoriasis
  JOURNAL   Exp Dermatol 28 (3), 283-291 (2019)
   PUBMED   30664260
  REMARK    GeneRIF: MiR-744-3p regulates the proliferation and differentiation
            of keratinocytes through targeting KLLN in psoriasis
REFERENCE   5  (bases 1 to 4376)
  AUTHORS   Sankunny,M. and Eng,C.
  TITLE     KLLN-mediated DNA damage-induced apoptosis is associated with
            regulation of p53 phosphorylation and acetylation in breast cancer
            cells
  JOURNAL   Cell Death Discov 4, 31 (2018)
   PUBMED   30245854
  REMARK    Erratum:[Cell Death Discov. 2019 Jul 10;5:116. doi:
            10.1038/s41420-019-0186-2.. PMID: 31312525]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4376)
  AUTHORS   Thompson,E.R., Gorringe,K.L., Choong,D.Y., Eccles,D.M., Mitchell,G.
            and Campbell,I.G.
  CONSRTM   kConFab
  TITLE     Analysis of KLLN as a high-penetrance breast cancer predisposition
            gene
  JOURNAL   Breast Cancer Res Treat 134 (2), 543-547 (2012)
   PUBMED   22580995
  REMARK    GeneRIF: Pathogenic mutations in KLLN are rare in breast cancer
            families and the c.339_340delAG variant does not represent a
            high-penetrance breast cancer risk allele.
REFERENCE   7  (bases 1 to 4376)
  AUTHORS   Ngeow,J., Mester,J., Rybicki,L.A., Ni,Y., Milas,M. and Eng,C.
  TITLE     Incidence and clinical characteristics of thyroid cancer in
            prospective series of individuals with Cowden and Cowden-like
            syndrome characterized by germline PTEN, SDH, or KLLN alterations
  JOURNAL   J Clin Endocrinol Metab 96 (12), E2063-E2071 (2011)
   PUBMED   21956414
  REMARK    GeneRIF: Cowden syndrome patients have elevated risks of papillary
            thyroid cancer from KLLN alterations.
REFERENCE   8  (bases 1 to 4376)
  AUTHORS   Bennett,K.L., Campbell,R., Ganapathi,S., Zhou,M., Rini,B.,
            Ganapathi,R., Neumann,H.P. and Eng,C.
  TITLE     Germline and somatic DNA methylation and epigenetic regulation of
            KILLIN in renal cell carcinoma
  JOURNAL   Genes Chromosomes Cancer 50 (8), 654-661 (2011)
   PUBMED   21584899
  REMARK    GeneRIF: 19 of 20 advanced RCC showed somatic hypermethylation
            upstream of KILLIN
REFERENCE   9  (bases 1 to 4376)
  AUTHORS   Bennett,K.L., Mester,J. and Eng,C.
  TITLE     Germline epigenetic regulation of KILLIN in Cowden and Cowden-like
            syndrome
  JOURNAL   JAMA 304 (24), 2724-2731 (2010)
   PUBMED   21177507
  REMARK    GeneRIF: Germline KILLIN methylation is common among patients with
            Cowden syndrome or Cowden-like syndrome and is associated with
            increased risks of breast and renal cancer over PTEN
            mutation-positive individuals
REFERENCE   10 (bases 1 to 4376)
  AUTHORS   Cho,Y.J. and Liang,P.
  TITLE     Killin is a p53-regulated nuclear inhibitor of DNA synthesis
  JOURNAL   Proc Natl Acad Sci U S A 105 (14), 5396-5401 (2008)
   PUBMED   18385383
  REMARK    GeneRIF: results support Killin as a missing link between p53
            activation and S phase checkpoint control designed to eliminate
            replicating precancerous cells, should they escape G(1) blockade
            mediated by p21.
            GeneRIF: Killin is a p53-regulated nuclear inhibitor of DNA
            synthesis with high affinity of DNA binding.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC063965.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 19, 2020 this sequence version replaced NM_001126049.1.
            
            Summary: The protein encoded by this intronless gene is found in
            the nucleus, where it can inhibit DNA synthesis and promote S phase
            arrest coupled to apoptosis. The expression of this DNA binding
            protein is upregulated by transcription factor p53. [provided by
            RefSeq, Dec 2012].
            
            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 is intronless :: EU552092.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000445946.5/ ENSP00000392204.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4376              AC063965.8         185224-189599
FEATURES             Location/Qualifiers
     source          1..4376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..4376
                     /gene="KLLN"
                     /gene_synonym="CWS4; KILLIN"
                     /note="killin, p53 regulated DNA replication inhibitor"
                     /db_xref="GeneID:100144748"
                     /db_xref="HGNC:HGNC:37212"
                     /db_xref="MIM:612105"
     exon            1..4376
                     /gene="KLLN"
                     /gene_synonym="CWS4; KILLIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             1047..1583
                     /gene="KLLN"
                     /gene_synonym="CWS4; KILLIN"
                     /codon_start=1
                     /product="killin"
                     /protein_id="NP_001119521.1"
                     /db_xref="CCDS:CCDS44454.1"
                     /db_xref="GeneID:100144748"
                     /db_xref="HGNC:HGNC:37212"
                     /db_xref="MIM:612105"
                     /translation="MDRPGPGSARPGRTVHVWGYRVEWKVRNGRKLQPSEWAGRGDLG
                     GFKRRWKDTRATVGTTFRRRSRVSLVGELSKFPLPSDSSGGKSSSSFARGALAWCRQR
                     NPNPSCAAAETGARTSLPKERCRGWRLGNWLHKHPHPNTCPRLPACWLPPILTERGER
                     VPKLVPLLACYPKSKPKD"
     regulatory      4346..4351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLLN"
                     /gene_synonym="CWS4; KILLIN"
                     /note="hexamer: AATAAA"
     polyA_site      4376
                     /gene="KLLN"
                     /gene_synonym="CWS4; KILLIN"
                     /note="major polyA site"
ORIGIN      
        1 ctccgccgcc gcgccgggag cccgggcgcc tcggaagacc gaggggaggc gggaggcgag
       61 cgagaggcgg acgggaccgc gccgggcgag gggagggcag ggcagggcag ggggcggtag
      121 gagggggcag agcggtagct ctgggtgcga gcgcagagtc cccaagccgc aggctctact
      181 gagcatgccc agtgtagctg cctggggctt gctcgggccg gttcccagcc gccagcctgc
      241 agctgcactt gctgcggctt ttgcagcaac gcgaggcgag gataacgagc taagcctcgg
      301 cctctgccca gaaacccagc cggaggcagg gtaggctgtt gtggggcggg ggtggaggac
      361 tgatgatgaa agctgagatg ggtgcgttga gcagtgtcac tgactcgagt ctgaggttac
      421 ctgtgcacag gtgaaaagga ccaggtgacc acgctgctca gtgtagaggg aaatgcaggg
      481 acggtccctg caaggggaat accctccccc cttgcctcta cccctagatt tccgcggcgt
      541 ggactgcatt cgctctttcc ttttgcaccg ctgtcggatc acaatcgttc gcagagattt
      601 gactgtaaca gcctttgcct agagattccc ccttccccca aatctgtgtc ctcatggtgt
      661 cagtcttagc acaaagagca acctgctatt gtgtcgccag cgtgtatcac ctcatccggc
      721 tcccttgcag cgccccacct ctcgcttccc cggtaactcg gctcgtttgc cctaaaaatg
      781 aaagctctca gccgagcgtg ctgaacgtga acacatagcc gttgaatttc aagggcccaa
      841 agggcaccta tctaaatgaa ctgaaagagg atccctgtga gtgggacgca ccccgcaggc
      901 ctctcctgcg cccgctccgg tgcccccaag agagtcgagc atctttcccc tcgggctcca
      961 ggtcggttcg cggcgtcgga gtcaagctcg gttctcagag accacctagc cccgcccccc
     1021 cttggccgcc gtgaaaaccc ggcaggatgg atcgcccggg gccaggctcc gcgcgccccg
     1081 gccggaccgt gcacgtttgg ggttaccggg ttgagtggaa agtacggaac ggtaggaagc
     1141 tgcagcccag cgagtgggcg gggcgaggag acctaggagg gttcaaaagg aggtggaagg
     1201 atacacgggc cacagtcgga actactttcc gaaggaggtc acgtgtgtcc ctagttgggg
     1261 aactttccaa attcccactc cccagtgata gctccggagg caagtcgtct tcttcctttg
     1321 ctcggggtgc tcttgcctgg tgcaggcagc ggaaccccaa cccttcctgc gccgcggcgg
     1381 aaacaggggc tcggaccagc ctcccgaagg agcgctgtcg gggctggcgc ttggggaact
     1441 ggttacacaa gcacccacat ccaaacacgt gcccccgcct ccccgcctgc tggctgccgc
     1501 cgattcttac agaacgcggg gagagagtcc ccaaactggt gccactcctc gcctgctacc
     1561 ctaagagcaa gccaaaggac tgagacctga gactcactcc ttgctctaca tcgacctatt
     1621 ctgcgccttc ccaaacgtgg gaaaaggagc tgggcgctag ggctctcggg cctctccatc
     1681 gctgatgccc tgccgcttag ggtgaaccct tttggttctg tgcttgaggg tatctcctgc
     1741 tgcagcccag agcgtgcatt ctccgatgtt gcaacaaacg tccagtcact acccctgagc
     1801 tggtgagcgc gccccaccta ctgtggactc agccaagtga cttatctggt ctgagaacct
     1861 agtcaatggc cgtcagccca gaacaaacct gtcaagtctg tttacagccc cgattgggct
     1921 gacctgtcac cgtgagagag ctgattcgga aatgctgaga gttggatcgc actcctaccc
     1981 cgcaccccac ccgtcaagga tctacaaagc aagtagtcga cccgcttaaa gagaatgagc
     2041 atcaacacca gtctgggaat ttattgtttt ttcatttccc ttaggaagta gaactacaga
     2101 cgacaatttg agtcaaaaaa tatctaacga gacctaggtt gaagcactga gttgtttttc
     2161 aaactttgag agaatgagaa tcaatctgca tgtgtgttca ataattgtaa gtgcctagca
     2221 aagtctaaag agggtttatg ctgtatttga gaaagagtac tgtatatgtg cacatcatag
     2281 ttgcaggcaa cctctgaaga ctagaaacct caagagacct agcgcagaaa gccacaggcc
     2341 attacctaac tccgggacta ctaattaaac ctgggatatt tacagtgttc ttagagacct
     2401 ctgaggctcc ataaaacttt gcacttatat acagcattta agatagctgt gcaggagtta
     2461 acaacctgct gaagcttcag tgttgatatt tattgaagac tggttttgtg catagttctg
     2521 gtcagcttgg gaaaggcaag gaccacagtg gaaaaggaaa tggaaagcaa ccggaaaaga
     2581 gtaagagaaa ggcctccagt tgatttccag agatgcagat actgtccaca cagcctagcg
     2641 tgaactacag atttcattat tgtataaata accaaagata aggagttcct gatgtctagg
     2701 tgttctacta gattgcatgg taaaaaccag agctgtgttt aattatcaat tactgcgtgg
     2761 tagaaaaagg gaaaatgaag atgaactttt aaaaggggag tagattaggg aggggtaaaa
     2821 tgtctcacat ttgtttctta gattgctgat cttgtctcca gagtccctgt tattagcact
     2881 gcccttctct gtccctcccc tggagcctac cctaagtgac aattagtctc atagcatctg
     2941 agaatctctg aaatctgctt tcatggaagc aaatgaaaca agggtgcatt cctgtcctgg
     3001 tgcgacagaa tcctcttgga ttccatggca cagagttact ctggagcaga gataatctgc
     3061 atcaccagca ctaaagtgct agaatatgag accagcctcc aagtacttcc atccggctga
     3121 agaaagaaaa tgggaaatgg gttttactgc ttctctaaac atcaggtccc tctacttctc
     3181 tctagtggtg aatgaaagga tcatcaatgt tggcagatat ttggccagcc caacagcaac
     3241 atcaggtggt tattaggagt tggtgaataa aatcctcctt ctgttcctag tgttaagttg
     3301 tttctgaaag aaatactgat gcatcctttt ccaatttttt gtttttcttt tcctttctac
     3361 ccaaatggct ggccctatct aaactaaaga aagtttcaaa aatagtactt ttttaaagtt
     3421 cagttgaaaa tacctgcttg gctgtataga tattacaata cactggtctc caagcacttc
     3481 agttcttttt ttttttttct tttttttttt ttttttttga gacggagtct cacaggctgg
     3541 agtgcagtgg catgatctcg gttcactgca acctctgcct cccaggttca agcaattccc
     3601 ctgcctcagc ctcccgagta gctgggacta caggcgcaca ccatcatgcc gggctaattt
     3661 tttgtagttt agtaaagaca gggtttcacc atgttggtca ggatggtctc gatctcctga
     3721 cctcgtgatc tgcccgccac ggcctcccaa agtgctggga ttacaggcgt gagccaccgc
     3781 gcccggccat acttagttct ttacctgtct ggattcagaa ccagaatacc atagggagaa
     3841 gtagaagctt gtaacaaagg gacaattata taaagcttca gggtgactat gtagattgat
     3901 tagtaagcat ggtaaactag ctttaattat cgcttctaac agctgattcc aaaactctat
     3961 tgttactaca ccaaaataat gtcgaaagaa aatttctttc ttattttctt tgataagcga
     4021 aatgaccagc aacttgatgt ggatgatata aatacttgat gtgctctttg taggtcatct
     4081 gctaagatgt cttttgtgta aacactctga tctctatagt gcctttctca tctcccatac
     4141 gctgaccttt caaaaaggga tctaactcaa tagctttaat ttttaaacaa tcttctgtat
     4201 ttctgtctgt ttaactactg ttttctaaat aatacagaat ataaaaacat aataatcatt
     4261 ggattgaatg taaacccatt gttccaaggg tctgaggttt tccccttatt tcatttatcc
     4321 taataacaaa cattattgtt ctttcaataa agataatttt aagacattct ccaaaa
//
