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B2CW77

- KILIN_HUMAN

UniProt

B2CW77 - KILIN_HUMAN

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Protein

Killin

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

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 – 50431 PublicationAdd
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
Complete GO annotation...

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
Complete GO annotation...

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.
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 (1 Publication).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.

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 38 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

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