ID   KILIN_HUMAN             Reviewed;         178 AA.
AC   B2CW77;
DT   02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT   20-MAY-2008, sequence version 1.
DT   03-AUG-2022, entry version 78.
DE   RecName: Full=Killin;
GN   Name=KLLN;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING,
RP   AND INDUCTION.
RX   PubMed=18385383; DOI=10.1073/pnas.0705410105;
RA   Cho Y.J., Liang P.;
RT   "Killin is a p53-regulated nuclear inhibitor of DNA synthesis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:5396-5401(2008).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164054; DOI=10.1038/nature02462;
RA   Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA   Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA   Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA   Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA   Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA   Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA   Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA   Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA   Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA   Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA   Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA   Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA   McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA   Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA   Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA   Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA   Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA   Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA   Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA   Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA   Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 10.";
RL   Nature 429:375-381(2004).
RN   [3]
RP   INVOLVEMENT IN CWS4.
RX   PubMed=21177507; DOI=10.1001/jama.2010.1877;
RA   Bennett K.L., Mester J., Eng C.;
RT   "Germline epigenetic regulation of KILLIN in Cowden and Cowden-like
RT   syndrome.";
RL   JAMA 304:2724-2731(2010).
CC   -!- FUNCTION: DNA-binding protein involved in S phase checkpoint control-
CC       coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the
CC       ability to inhibit DNA synthesis and S phase arrest coupled to
CC       apoptosis. Has affinity to both double- and single-stranded DNA.
CC       {ECO:0000269|PubMed:18385383}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18385383}.
CC   -!- INDUCTION: By p53/TP53; direct transcription target of p53/TP53.
CC       {ECO:0000269|PubMed:18385383}.
CC   -!- DISEASE: Cowden syndrome 4 (CWS4) [MIM:615107]: A form of Cowden
CC       syndrome, a hamartomatous polyposis syndrome with age-related
CC       penetrance. Cowden syndrome is characterized by hamartomatous lesions
CC       affecting derivatives of ectodermal, mesodermal and endodermal layers,
CC       macrocephaly, facial trichilemmomas (benign tumors of the hair follicle
CC       infundibulum), acral keratoses, papillomatous papules, and elevated
CC       risk for development of several types of malignancy, particularly
CC       breast carcinoma in women and thyroid carcinoma in both men and women.
CC       Colon cancer and renal cell carcinoma have also been reported.
CC       Hamartomas can be found in virtually every organ, but most commonly in
CC       the skin, gastrointestinal tract, breast and thyroid.
CC       {ECO:0000269|PubMed:21177507}. Note=The gene represented in this entry
CC       is involved in disease pathogenesis. Germline KLLN methylation is
CC       common among patients with Cowden syndrome or Cowden-like syndrome and
CC       is associated with increased risks of breast and renal cancer over PTEN
CC       mutation-positive individuals (PubMed:21177507).
CC       {ECO:0000269|PubMed:21177507}.
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DR   EMBL; EU552092; ACB45456.1; -; mRNA.
DR   EMBL; AC063965; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS44454.1; -.
DR   RefSeq; NP_001119521.1; NM_001126049.1.
DR   AlphaFoldDB; B2CW77; -.
DR   BioGRID; 936700; 3.
DR   STRING; 9606.ENSP00000392204; -.
DR   iPTMnet; B2CW77; -.
DR   PhosphoSitePlus; B2CW77; -.
DR   BioMuta; KLLN; -.
DR   PaxDb; B2CW77; -.
DR   PeptideAtlas; B2CW77; -.
DR   PRIDE; B2CW77; -.
DR   Antibodypedia; 58045; 125 antibodies from 16 providers.
DR   DNASU; 100144748; -.
DR   Ensembl; ENST00000445946.5; ENSP00000392204.2; ENSG00000227268.5.
DR   Ensembl; ENST00000635224.2; ENSP00000489239.1; ENSG00000283059.3.
DR   Ensembl; ENST00000644082.1; ENSP00000495113.1; ENSG00000283059.3.
DR   GeneID; 100144748; -.
DR   KEGG; hsa:100144748; -.
DR   MANE-Select; ENST00000445946.5; ENSP00000392204.2; NM_001126049.2; NP_001119521.1.
DR   UCSC; uc009xti.3; human.
DR   CTD; 100144748; -.
DR   DisGeNET; 100144748; -.
DR   GeneCards; KLLN; -.
DR   HGNC; HGNC:37212; KLLN.
DR   HPA; ENSG00000227268; Tissue enhanced (skeletal).
DR   MalaCards; KLLN; -.
DR   MIM; 612105; gene.
DR   MIM; 615107; phenotype.
DR   neXtProt; NX_B2CW77; -.
DR   OpenTargets; ENSG00000227268; -.
DR   Orphanet; 201; Cowden syndrome.
DR   Orphanet; 227535; Hereditary breast cancer.
DR   VEuPathDB; HostDB:ENSG00000227268; -.
DR   eggNOG; ENOG502TDVM; Eukaryota.
DR   GeneTree; ENSGT00560000078481; -.
DR   HOGENOM; CLU_129370_0_0_1; -.
DR   InParanoid; B2CW77; -.
DR   OMA; WLHKHPH; -.
DR   OrthoDB; 1549736at2759; -.
DR   PhylomeDB; B2CW77; -.
DR   PathwayCommons; B2CW77; -.
DR   SignaLink; B2CW77; -.
DR   BioGRID-ORCS; 100144748; 12 hits in 1071 CRISPR screens.
DR   GenomeRNAi; 100144748; -.
DR   Pharos; B2CW77; Tbio.
DR   PRO; PR:B2CW77; -.
DR   Proteomes; UP000005640; Chromosome 10.
DR   RNAct; B2CW77; protein.
DR   Bgee; ENSG00000227268; Expressed in sperm and 117 other tissues.
DR   Genevisible; B2CW77; HS.
DR   GO; GO:0005730; C:nucleolus; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR   GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
PE   1: Evidence at protein level;
KW   Apoptosis; Cell cycle; DNA-binding; Nucleus; Reference proteome.
FT   CHAIN           1..178
FT                   /note="Killin"
FT                   /id="PRO_0000347059"
FT   DNA_BIND        8..50
SQ   SEQUENCE   178 AA;  19958 MW;  69C23B9B8EDEA1EF CRC64;
     MDRPGPGSAR PGRTVHVWGY RVEWKVRNGR KLQPSEWAGR GDLGGFKRRW KDTRATVGTT
     FRRRSRVSLV GELSKFPLPS DSSGGKSSSS FARGALAWCR QRNPNPSCAA AETGARTSLP
     KERCRGWRLG NWLHKHPHPN TCPRLPACWL PPILTERGER VPKLVPLLAC YPKSKPKD