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    KLLN killin, p53-regulated DNA replication inhibitor [ Homo sapiens (human) ]

    Gene ID: 100144748, updated on 5-May-2013
    Official Symbol
    KLLNprovided by HGNC
    Official Full Name
    killin, p53-regulated DNA replication inhibitorprovided by HGNC
    Primary source
    HGNC:37212
    See related
    Ensembl:ENSG00000227268; MIM:612105
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CWS4; KILLIN
    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]
    Location :
    10q23
    Sequence :
    Chromosome: 10; NC_000010.10 (89618918..89623194, complement)
    See KLLN in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene ATPase family, AAA domain containing 1 Neighboring gene cofilin 1 (non-muscle) pseudogene 1 Neighboring gene phosphatase and tensin homolog Neighboring gene ribosomal protein L11 pseudogene 3 Neighboring gene mediator complex subunit 6 pseudogene 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation. Wang Y, et al. J Clin Endocrinol Metab, 2013 Mar. PMID 23386643.
    2. Analysis of KLLN as a high-penetrance breast cancer predisposition gene. Thompson ER, et al. Breast Cancer Res Treat, 2012 Jul. PMID 22580995.
    3. 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. Ngeow J, et al. J Clin Endocrinol Metab, 2011 Dec. PMID 21956414.
    4. Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma. Bennett KL, et al. Genes Chromosomes Cancer, 2011 Aug. PMID 21584899.
    5. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. Bennett KL, et al. JAMA, 2010 Dec 22. PMID 21177507.

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. KLLN is a transcription factor directly regulating AR, TP53, and TP73 expression, with a role in prostate carcinogenesis.
      Title: Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation.
    2. 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.
      Title: Analysis of KLLN as a high-penetrance breast cancer predisposition gene.
    3. Cowden syndrome patients have elevated risks of papillary thyroid cancer from KLLN alterations.
      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.
    4. 19 of 20 advanced RCC showed somatic hypermethylation upstream of KILLIN
      Title: Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma.
    5. 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
      Title: Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
    6. 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.
      Title: Killin is a p53-regulated nuclear inhibitor of DNA synthesis.
    7. Killin is a p53-regulated nuclear inhibitor of DNA synthesis with high affinity of DNA binding.
      Title: Killin is a p53-regulated nuclear inhibitor of DNA synthesis.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    killin
    Names
    killin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033079.1 RefSeqGene

      Range
      5001..9277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126049.1 → NP_001119521.1  killin

      Status: REVIEWED

      Source sequence(s)
      EU552092
      Consensus CDS
      CCDS44454.1
      UniProtKB/Swiss-Prot
      B2CW77
      Related
      ENSP00000392204, ENST00000445946

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      89618918..89623194, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      83253736..83258012, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      89990582..89994858, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01021960.1 (116052..120328) None
    genomic AC063965.8 (185320..189596) None
    genomic AMYH01002932.1 (281859..286135) None
    mRNA EU552092.1 ACB45456.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2CW77.1 GenPept UniProtKB/Swiss-Prot:B2CW77

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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      Supplemental Content

      Table of contents

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      • ClinVar
        Related medical variations
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
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      • HomoloGene
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        Link to related Nucleotide entry
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      • Probe
        Related Probe entry
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        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
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        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
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        Related SNP records
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        SNPs linked from GeneView
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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