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B2CW77 (KILIN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 38. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Killin
Gene names
Name:KLLN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length178 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1

Subcellular location

Nucleus Ref.1.

Induction

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

Involvement in disease

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.
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 (Ref.3). Ref.3

Ontologies

Keywords
   Biological processApoptosis
Cell cycle
   Cellular componentNucleus
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic process

Inferred from electronic annotation. Source: UniProtKB-KW

cell cycle

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 178178Killin
PRO_0000347059

Regions

DNA binding8 – 5043 Ref.1

Sequences

Sequence LengthMass (Da)Tools
B2CW77 [UniParc].

Last modified May 20, 2008. Version 1.
Checksum: 69C23B9B8EDEA1EF

FASTA17819,958
        10         20         30         40         50         60 
MDRPGPGSAR PGRTVHVWGY RVEWKVRNGR KLQPSEWAGR GDLGGFKRRW KDTRATVGTT 

        70         80         90        100        110        120 
FRRRSRVSLV GELSKFPLPS DSSGGKSSSS FARGALAWCR QRNPNPSCAA AETGARTSLP 

       130        140        150        160        170 
KERCRGWRLG NWLHKHPHPN TCPRLPACWL PPILTERGER VPKLVPLLAC YPKSKPKD 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
EU552092 mRNA. Translation: ACB45456.1.
AC063965 Genomic DNA. No translation available.
CCDSCCDS44454.1.
RefSeqNP_001119521.1. NM_001126049.1.
UniGeneHs.559820.

3D structure databases

ProteinModelPortalB2CW77.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000392204.

Proteomic databases

PaxDbB2CW77.
PRIDEB2CW77.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000445946; ENSP00000392204; ENSG00000227268.
GeneID100144748.
KEGGhsa:100144748.
UCSCuc009xti.3. human.

Organism-specific databases

CTD100144748.
GeneCardsGC10M089619.
HGNCHGNC:37212. KLLN.
MIM612105. gene.
615107. phenotype.
neXtProtNX_B2CW77.
Orphanet201. Cowden syndrome.
227535. Hereditary breast cancer.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000113227.
OMAPPILTER.
OrthoDBEOG780RNQ.
PhylomeDBB2CW77.

Gene expression databases

BgeeB2CW77.
GenevestigatorB2CW77.

Family and domain databases

ProtoNetSearch...

Other

NextBio20774789.
PROB2CW77.
SOURCESearch...

Entry information

Entry nameKILIN_HUMAN
AccessionPrimary (citable) accession number: B2CW77
Entry history
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: May 20, 2008
Last modified: July 9, 2014
This is version 38 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM