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Protein

Killin

Gene

KLLN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 – 5043Add
BLAST

GO - Molecular functioni

GO - Biological processi

  • apoptotic process Source: CACAO
  • cell cycle arrest Source: CACAO
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 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:37212. KLLN.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cowden syndrome 4 (CWS4)1 Publication

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).

Disease descriptionA 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.

See also OMIM:615107

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiKLLN.

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.
GenevisibleiB2CW77. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000392204.

Structurei

3D structure databases

ProteinModelPortaliB2CW77.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

GeneTreeiENSGT00560000078481.
HOGENOMiHOG000113227.
InParanoidiB2CW77.
OMAiGGFKRRW.
OrthoDBiEOG780RNQ.
PhylomeDBiB2CW77.

Sequencei

Sequence statusi: Complete.

B2CW77-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDRPGPGSAR PGRTVHVWGY RVEWKVRNGR KLQPSEWAGR GDLGGFKRRW
60 70 80 90 100
KDTRATVGTT FRRRSRVSLV GELSKFPLPS DSSGGKSSSS FARGALAWCR
110 120 130 140 150
QRNPNPSCAA AETGARTSLP KERCRGWRLG NWLHKHPHPN TCPRLPACWL
160 170
PPILTERGER VPKLVPLLAC YPKSKPKD
Length:178
Mass (Da):19,958
Last modified:May 20, 2008 - v1
Checksum:i69C23B9B8EDEA1EF
GO

Sequence databases

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

3D structure databases

ProteinModelPortaliB2CW77.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000392204.

Polymorphism and mutation databases

BioMutaiKLLN.

Proteomic databases

PaxDbiB2CW77.
PRIDEiB2CW77.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi100144748.
GeneCardsiGC10M089619.
HGNCiHGNC:37212. KLLN.
MIMi612105. gene.
615107. phenotype.
neXtProtiNX_B2CW77.
Orphaneti201. Cowden syndrome.
227535. Hereditary breast cancer.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00560000078481.
HOGENOMiHOG000113227.
InParanoidiB2CW77.
OMAiGGFKRRW.
OrthoDBiEOG780RNQ.
PhylomeDBiB2CW77.

Miscellaneous databases

GenomeRNAii100144748.
NextBioi20774789.
PROiB2CW77.
SOURCEiSearch...

Gene expression databases

BgeeiB2CW77.
GenevisibleiB2CW77. HS.

Family and domain databases

ProtoNetiSearch...

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: June 24, 2015
This is version 44 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.