Version 5.4
Homo sapiens Protein: KLLN
Summary
InnateDB Protein IDBP-381908.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KLLN
Protein Name killin, p53-regulated DNA replication inhibitor
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000392204
InnateDB Gene IDBG-306974 (KLLN)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:18385383}.
Subcellular Localization Nucleus {ECO:0000269PubMed:18385383}.
Disease Associations 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. {ECO:0000269PubMed:21177507}. 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). {ECO:0000269PubMed:21177507}.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
Biological Process
GO:0006915 apoptotic process
GO:0007049 cell cycle
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt B2CW77
PhosphoSite PhosphoSite-B2CW77
TrEMBL
UniProt Splice Variant
Entrez Gene 100144748
UniGene Hs.559820
RefSeq NP_001119521
HUGO HGNC:37212
OMIM 612105
CCDS CCDS44454
HPRD
IMGT
EMBL AC063965 EU552092
GenPept ACB45456

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca