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B2CW77

- KILIN_HUMAN

UniProt

B2CW77 - KILIN_HUMAN

Protein

Killin

Gene

KLLN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
  1. Functioni

    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.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi8 – 5043Add
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. apoptotic process Source: UniProtKB-KW
    2. cell cycle Source: UniProtKB-KW

    Keywords - Biological processi

    Apoptosis, Cell cycle

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Killin
    Gene namesi
    Name:KLLN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:37212. KLLN.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. 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).1 Publication

    Organism-specific databases

    MIMi615107. phenotype.
    Orphaneti201. Cowden syndrome.
    227535. Hereditary breast cancer.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 178178KillinPRO_0000347059Add
    BLAST

    Proteomic databases

    PaxDbiB2CW77.
    PRIDEiB2CW77.

    Expressioni

    Inductioni

    By p53/TP53; direct transcription target of p53/TP53.1 Publication

    Gene expression databases

    BgeeiB2CW77.
    GenevestigatoriB2CW77.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000392204.

    Structurei

    3D structure databases

    ProteinModelPortaliB2CW77.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    HOGENOMiHOG000113227.
    OMAiPPILTER.
    OrthoDBiEOG780RNQ.
    PhylomeDBiB2CW77.

    Sequencei

    Sequence statusi: Complete.

    B2CW77-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDRPGPGSAR PGRTVHVWGY RVEWKVRNGR KLQPSEWAGR GDLGGFKRRW    50
    KDTRATVGTT FRRRSRVSLV GELSKFPLPS DSSGGKSSSS FARGALAWCR 100
    QRNPNPSCAA AETGARTSLP KERCRGWRLG NWLHKHPHPN TCPRLPACWL 150
    PPILTERGER VPKLVPLLAC YPKSKPKD 178
    Length:178
    Mass (Da):19,958
    Last modified:May 20, 2008 - v1
    Checksum:i69C23B9B8EDEA1EF
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU552092 mRNA. Translation: ACB45456.1.
    AC063965 Genomic DNA. No translation available.
    CCDSiCCDS44454.1.
    RefSeqiNP_001119521.1. NM_001126049.1.
    UniGeneiHs.559820.

    Genome annotation databases

    EnsembliENST00000445946; ENSP00000392204; ENSG00000227268.
    GeneIDi100144748.
    KEGGihsa:100144748.
    UCSCiuc009xti.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU552092 mRNA. Translation: ACB45456.1 .
    AC063965 Genomic DNA. No translation available.
    CCDSi CCDS44454.1.
    RefSeqi NP_001119521.1. NM_001126049.1.
    UniGenei Hs.559820.

    3D structure databases

    ProteinModelPortali B2CW77.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000392204.

    Proteomic databases

    PaxDbi B2CW77.
    PRIDEi B2CW77.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000445946 ; ENSP00000392204 ; ENSG00000227268 .
    GeneIDi 100144748.
    KEGGi hsa:100144748.
    UCSCi uc009xti.3. human.

    Organism-specific databases

    CTDi 100144748.
    GeneCardsi GC10M089619.
    HGNCi HGNC:37212. KLLN.
    MIMi 612105. gene.
    615107. phenotype.
    neXtProti NX_B2CW77.
    Orphaneti 201. Cowden syndrome.
    227535. Hereditary breast cancer.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000113227.
    OMAi PPILTER.
    OrthoDBi EOG780RNQ.
    PhylomeDBi B2CW77.

    Miscellaneous databases

    NextBioi 20774789.
    PROi B2CW77.
    SOURCEi Search...

    Gene expression databases

    Bgeei B2CW77.
    Genevestigatori B2CW77.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Killin is a p53-regulated nuclear inhibitor of DNA synthesis."
      Cho Y.J., Liang P.
      Proc. Natl. Acad. Sci. U.S.A. 105:5396-5401(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, INDUCTION.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome."
      Bennett K.L., Mester J., Eng C.
      JAMA 304:2724-2731(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CWS4.

    Entry informationi

    Entry nameiKILIN_HUMAN
    AccessioniPrimary (citable) accession number: B2CW77
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 2, 2008
    Last sequence update: May 20, 2008
    Last modified: October 1, 2014
    This is version 39 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3