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Aliases for KLLN Gene

Aliases for KLLN Gene

  • Killin, P53-Regulated DNA Replication Inhibitor 2 3
  • CWS4 3 6
  • KILLIN 3

External Ids for KLLN Gene

Previous GeneCards Identifiers for KLLN Gene

  • GC10M089619

Summaries for KLLN Gene

Entrez Gene Summary for KLLN Gene

  • 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]

GeneCards Summary for KLLN Gene

KLLN (Killin, P53-Regulated DNA Replication Inhibitor) is a Protein Coding gene. Diseases associated with KLLN include cowden syndrome 4 and cowden disease.

UniProtKB/Swiss-Prot for KLLN Gene

  • DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLLN Gene

Genomics for KLLN Gene

Genomic Location for KLLN Gene

Start:
87,859,161 bp from pter
End:
87,863,437 bp from pter
Size:
4,277 bases
Orientation:
Minus strand

Genomic View for KLLN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLLN Gene

No data available for Regulatory Elements for KLLN Gene

Proteins for KLLN Gene

  • Protein details for KLLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2CW77-KILIN_HUMAN
    Recommended name:
    Killin
    Protein Accession:
    B2CW77
    Secondary Accessions:

    Protein attributes for KLLN Gene

    Size:
    178 amino acids
    Molecular mass:
    19958 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLLN Gene

Proteomics data for KLLN Gene at MOPED

Post-translational modifications for KLLN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLLN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLLN Gene

Domains for KLLN Gene

Protein Domains for KLLN Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KLLN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLLN: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KLLN Gene

Function for KLLN Gene

Molecular function for KLLN Gene

UniProtKB/Swiss-Prot Function: DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA.
UniProtKB/Swiss-Prot Induction: By p53/TP53; direct transcription target of p53/TP53.

Gene Ontology (GO) - Molecular Function for KLLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with KLLN: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KLLN Gene

Localization for KLLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLLN Gene

Gene Ontology (GO) - Cellular Components for KLLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with KLLN: view

No data available for Subcellular locations from COMPARTMENTS for KLLN Gene

Pathways for KLLN Gene

SuperPathways for KLLN Gene

No Data Available

Interacting Proteins for KLLN Gene

Gene Ontology (GO) - Biological Process for KLLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IMP 23418309
GO:0007049 cell cycle --
GO:0007050 cell cycle arrest IDA 23418309
genes like me logo Genes that share ontologies with KLLN: view

No data available for Pathways by source for KLLN Gene

Transcripts for KLLN Gene

mRNA/cDNA for KLLN Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLLN Gene

Killin, p53-regulated DNA replication inhibitor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLLN Gene

No ASD Table

Relevant External Links for KLLN Gene

GeneLoc Exon Structure for
KLLN
ECgene alternative splicing isoforms for
KLLN

Expression for KLLN Gene

mRNA expression in normal human tissues for KLLN Gene

mRNA expression in normal human tissues for KLLN Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KLLN Gene

SOURCE GeneReport for Unigene cluster for KLLN Gene Hs.559820

genes like me logo Genes that share expressions with KLLN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KLLN Gene

Orthologs for KLLN Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for KLLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLLN 35
  • 99.63 (n)
  • 99.44 (a)
KLLN 36
  • 99 (a)
OneToOne
Species with no ortholog for KLLN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KLLN Gene

ENSEMBL:
Gene Tree for KLLN (if available)
TreeFam:
Gene Tree for KLLN (if available)

Paralogs for KLLN Gene

No data available for Paralogs for KLLN Gene

Variants for KLLN Gene

Sequence variations from dbSNP and Humsavar for KLLN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1903860 -- 87,860,453(-) GTGCT(A/G)GAATA utr-variant-3-prime
rs2673830 -- 87,858,673(-) TAGGC(A/C)GAAAT downstream-variant-500B
rs5786795 -- 87,860,015(+) GTCTC(-/A)AAAAA utr-variant-3-prime
rs7901097 -- 87,861,304(+) ACCCT(C/T)TTTAG utr-variant-3-prime
rs12571737 -- 87,859,157(+) AGCGC(C/T)TTTTG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KLLN Gene

Variant ID Type Subtype PubMed ID
esv2673693 CNV Deletion 23128226

Relevant External Links for KLLN Gene

HapMap Linkage Disequilibrium report
KLLN
Human Gene Mutation Database (HGMD)
KLLN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLLN Gene

Disorders for KLLN Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for KLLN Gene including...

Search for KLLN Gene in MalaCards »

(1) OMIM Diseases for KLLN Gene (612105)

UniProtKB/Swiss-Prot

KILIN_HUMAN
  • Cowden syndrome 4 (CWS4) [MIM:615107]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269 PubMed:21177507}. Note=The gene represented in this entry is involved in disease pathogenesis. Germline KLLN 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 (PubMed:21177507). {ECO:0000269 PubMed:21177507}.
genes like me logo Genes that share disorders with KLLN: view

Publications for KLLN Gene

  1. Killin is a p53-regulated nuclear inhibitor of DNA synthesis. (PMID: 18385383) Cho Y.J. … Liang P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3 4
  2. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. (PMID: 21177507) Bennett K.L. … Eng C. (JAMA 2010) 3 4
  3. Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma. (PMID: 21584899) Bennett K.L. … Eng C. (Genes Chromosomes Cancer 2011) 3
  4. 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. (PMID: 21956414) Ngeow J. … Eng C. (J. Clin. Endocrinol. Metab. 2011) 3
  5. Analysis of KLLN as a high-penetrance breast cancer predisposition gene. (PMID: 22580995) Thompson E.R. … Campbell I.G. (Breast Cancer Res. Treat. 2012) 3

Products for KLLN Gene

Sources for KLLN Gene

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