KLLN
entrez
100144748
canonical
uniprot
B2CW77
canonical
ensembl
ENSG00000227268
resolver
ensembl
ENSG00000283059
resolver
ensp
ENSP00000392204
resolver
ensp
ENSP00000489239
resolver
ensp
ENSP00000495113
resolver
enst
ENST00000445946
resolver
enst
ENST00000635224
resolver
enst
ENST00000644082
resolver
genesymbol
KLLN
resolver
hgnc
HGNC:37212
resolver
uniprot_entry
KILIN_HUMAN
resolver
amino_acid_sequence
MDRPGPGSARPGRTVHVWGYRVEWKVRNGRKLQPSEWAGRGDLGGFKRRWKDTRATVGTTFRRRSRVSLVGELSKFPLPSDSSGGKSSSSFARGALAWCRQRNPNPSCAAAETGARTSLPKERCRGWRLGNWLHKHPHPNTCPRLPACWLPPILTERGERVPKLVPLLACYPKSKPKD
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:21177507}. Note=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). {ECO:0000269|PubMed:21177507}.
uniprot
proteins
function
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:0000269|PubMed:18385383}.
uniprot
proteins
mass_dalton
19958
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
18385383
uniprot
proteins
pubmed
21177507
uniprot
proteins
sequence_length
178
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18385383}.
uniprot
proteins