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Protein

Killin

Gene

KLLN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi8 – 50Add BLAST43

GO - Molecular functioni

GO - Biological processi

  • apoptotic process Source: CACAO
  • cell cycle arrest Source: CACAO

Keywordsi

Molecular functionDNA-binding
Biological processApoptosis, Cell cycle

Names & Taxonomyi

Protein namesi
Recommended name:
Killin
Gene namesi
Name:KLLN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000227268.3
HGNCiHGNC:37212 KLLN
MIMi612105 gene
neXtProtiNX_B2CW77

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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).1 Publication
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

DisGeNETi100144748
MalaCardsiKLLN
MIMi615107 phenotype
OpenTargetsiENSG00000227268
Orphaneti201 Cowden syndrome
227535 Hereditary breast cancer

Polymorphism and mutation databases

BioMutaiKLLN

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003470591 – 178KillinAdd BLAST178

Proteomic databases

PaxDbiB2CW77
PRIDEiB2CW77

PTM databases

iPTMnetiB2CW77
PhosphoSitePlusiB2CW77

Expressioni

Inductioni

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

Gene expression databases

BgeeiENSG00000227268
GenevisibleiB2CW77 HS

Organism-specific databases

HPAiHPA074502

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000392204

Structurei

3D structure databases

ProteinModelPortaliB2CW77
SMRiB2CW77
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410KC85 Eukaryota
ENOG4110P8F LUCA
GeneTreeiENSGT00560000078481
HOGENOMiHOG000113227
InParanoidiB2CW77
OMAiWLHKHPH
OrthoDBiEOG091G0TYR
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
ENST00000635224; ENSP00000489239; ENSG00000283059
GeneIDi100144748
KEGGihsa:100144748
UCSCiuc009xti.3 human

Similar proteinsi

Entry informationi

Entry nameiKILIN_HUMAN
AccessioniPrimary (citable) accession number: B2CW77
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: May 20, 2008
Last modified: February 28, 2018
This is version 58 of the entry and version 1 of the sequence. See 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

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