KLLN killin, p53 regulated DNA replication inhibitor [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLLNprovided by HGNC
Official Full Name: killin, p53 regulated DNA replication inhibitorprovided by HGNC
Primary source: HGNC:HGNC:37212
See related: Ensembl:ENSG00000227268 MIM:612105; AllianceGenome:HGNC:37212
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CWS4; KILLIN
Summary: The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]
Orthologs: mouse all
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Genomic context

Location:: 10q23.31

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (87859158..87863533, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (88743061..88747436, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (89618915..89623290, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN.
Title: EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN.
New evidence on tumor suppressor activity of PTEN and KLLN in papillary thyroid carcinoma.
Title: New evidence on tumor suppressor activity of PTEN and KLLN in papillary thyroid carcinoma.
MiR-744-3p regulates the proliferation and differentiation of keratinocytes through targeting KLLN in psoriasis
Title: MiR-744-3p regulates keratinocyte proliferation and differentiation via targeting KLLN in psoriasis.
Data suggest that low levels of PTEN and KLLN are associated with both sporadic papillary thyroid carcinoma and multi-nodular goiter (as compared to control subjects); however, PTEN and KLLN should not be considered as circulating biomarkers for differential diagnosis between malignancy and benignity in indeterminate thyroid nodules. (PTEN = phosphatase and tensin homolog; KLLN = DNA replication inhibitor killin)
Title: Circulating levels of PTEN and KLLN in papillary thyroid carcinoma: can they be considered as novel diagnostic biomarkers?
The results suggest a critical role for KLLN as a potential regulator of pericentric heterochromatin formation, genomic stability and gene expression.
Title: Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability.
overexpression of microRNA-224 enhanced the proliferation abilities of HO8910 and knockdown of microRNA-224 suppressed the proliferation abilities of HO8910PM by KLLN-cyclin A pathway.
Title: Upregulated microRNA-224 promotes ovarian cancer cell proliferation by targeting KLLN.
Germline promoter hypermethylation of KLLN is associated with particular malignant and benign Cowden syndrome features, which is dependent on the PTEN mutation status.
Title: KLLN epigenotype-phenotype associations in Cowden syndrome.
Killin has a role in competitively inhibiting the formation of DNA replication forks during S-phase, as well as potentially negatively regulate RNA synthesis during other cell cycle phases
Title: Cell cycle specific distribution of killin: evidence for negative regulation of both DNA and RNA synthesis.
Data indicate that NVP-BEZ235-induced androgen receptor (AR) suppression resulted in decreased expression of both tumor suppressor proteins PTEN and KLLN in AR+/ER+ breast cancer cells.
Title: Activation of AR sensitizes breast carcinomas to NVP-BEZ235's therapeutic effect mediated by PTEN and KLLN upregulation.
Nuclear KLLN expression associates with improved relapse-free survival for prostate carcinoma
Title: Nuclear KLLN expression associates with improved relapse-free survival for prostate carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cowden syndrome 4 MedGen: C3554517 OMIM: 615107 GeneReviews: Not available	Compare labs

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D1S1423 (e-PCR)
- UniSTS:149619

STS-AA021529 (e-PCR)
- UniSTS:20363

WI-18385 (e-PCR)
- UniSTS:55210

RH103146 (e-PCR)
- UniSTS:97480

G65727 (e-PCR)
- UniSTS:225485

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: killin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.