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2024-04-26 07:21:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001126049 4277 bp mRNA linear PRI 09-JUN-2013
DEFINITION Homo sapiens killin, p53-regulated DNA replication inhibitor
(KLLN), mRNA.
ACCESSION NM_001126049
VERSION NM_001126049.1 GI:186700630
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4277)
AUTHORS Wang,Y., Radhakrishnan,D., He,X., Peehl,D.M. and Eng,C.
TITLE Transcription factor KLLN inhibits tumor growth by AR suppression,
induces apoptosis by TP53/TP73 stimulation in prostate carcinomas,
and correlates with cellular differentiation
JOURNAL J. Clin. Endocrinol. Metab. 98 (3), E586-E594 (2013)
PUBMED 23386643
REMARK GeneRIF: KLLN is a transcription factor directly regulating AR,
TP53, and TP73 expression, with a role in prostate carcinogenesis.
REFERENCE 2 (bases 1 to 4277)
AUTHORS Thompson,E.R., Gorringe,K.L., Choong,D.Y., Eccles,D.M., Mitchell,G.
and Campbell,I.G.
CONSRTM kConFab
TITLE Analysis of KLLN as a high-penetrance breast cancer predisposition
gene
JOURNAL Breast Cancer Res. Treat. 134 (2), 543-547 (2012)
PUBMED 22580995
REMARK GeneRIF: Pathogenic mutations in KLLN are rare in breast cancer
families and the c.339_340delAG variant does not represent a
high-penetrance breast cancer risk allele.
REFERENCE 3 (bases 1 to 4277)
AUTHORS Ngeow,J., Mester,J., Rybicki,L.A., Ni,Y., Milas,M. and Eng,C.
TITLE Incidence and clinical characteristics of thyroid cancer in
prospective series of individuals with Cowden and Cowden-like
syndrome characterized by germline PTEN, SDH, or KLLN alterations
JOURNAL J. Clin. Endocrinol. Metab. 96 (12), E2063-E2071 (2011)
PUBMED 21956414
REMARK GeneRIF: Cowden syndrome patients have elevated risks of papillary
thyroid cancer from KLLN alterations.
REFERENCE 4 (bases 1 to 4277)
AUTHORS Bennett,K.L., Campbell,R., Ganapathi,S., Zhou,M., Rini,B.,
Ganapathi,R., Neumann,H.P. and Eng,C.
TITLE Germline and somatic DNA methylation and epigenetic regulation of
KILLIN in renal cell carcinoma
JOURNAL Genes Chromosomes Cancer 50 (8), 654-661 (2011)
PUBMED 21584899
REMARK GeneRIF: 19 of 20 advanced RCC showed somatic hypermethylation
upstream of KILLIN
REFERENCE 5 (bases 1 to 4277)
AUTHORS Bennett,K.L., Mester,J. and Eng,C.
TITLE Germline epigenetic regulation of KILLIN in Cowden and Cowden-like
syndrome
JOURNAL JAMA 304 (24), 2724-2731 (2010)
PUBMED 21177507
REMARK GeneRIF: Germline KILLIN 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
REFERENCE 6 (bases 1 to 4277)
AUTHORS Cho,Y.J. and Liang,P.
TITLE Killin is a p53-regulated nuclear inhibitor of DNA synthesis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 105 (14), 5396-5401 (2008)
PUBMED 18385383
REMARK GeneRIF: results support Killin as a missing link between p53
activation and S phase checkpoint control designed to eliminate
replicating precancerous cells, should they escape G(1) blockade
mediated by p21.
GeneRIF: Killin is a p53-regulated nuclear inhibitor of DNA
synthesis with high affinity of DNA binding.
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from EU552092.1.
This sequence is a reference standard in the RefSeqGene project.
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].
##Evidence-Data-START##
Transcript exon combination :: EU552092.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..4277
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q23"
gene 1..4277
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/note="killin, p53-regulated DNA replication inhibitor"
/db_xref="GeneID:100144748"
/db_xref="HGNC:37212"
/db_xref="MIM:612105"
exon 1..4277
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/inference="alignment:Splign:1.39.8"
misc_feature 936..938
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/note="upstream in-frame stop codon"
CDS 951..1487
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/codon_start=1
/product="killin"
/protein_id="NP_001119521.1"
/db_xref="GI:186700631"
/db_xref="CCDS:CCDS44454.1"
/db_xref="GeneID:100144748"
/db_xref="HGNC:37212"
/db_xref="MIM:612105"
/translation="
MDRPGPGSARPGRTVHVWGYRVEWKVRNGRKLQPSEWAGRGDLGGFKRRWKDTRATVGTTFRRRSRVSLVGELSKFPLPSDSSGGKSSSSFARGALAWCRQRNPNPSCAAAETGARTSLPKERCRGWRLGNWLHKHPHPNTCPRLPACWLPPILTERGERVPKLVPLLACYPKSKPKD
"
variation 1200
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/replace="c"
/replace="g"
/db_xref="dbSNP:3758479"
STS 2881..3037
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/standard_name="RH103146"
/db_xref="UniSTS:97480"
STS 2902..3151
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/standard_name="G65727"
/db_xref="UniSTS:225485"
STS 2904..3146
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/standard_name="STS-AA021529"
/db_xref="UniSTS:20363"
variation 2985
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/replace="a"
/replace="g"
/db_xref="dbSNP:1903860"
polyA_signal 3170..3175
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
polyA_site 3189
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/note="The 3' most polyA site has not been determined.
This is the 5' most polyA site."
STS 3436..3538
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/standard_name="D11S2921"
/db_xref="UniSTS:152074"
STS 3467..3536
/gene="KLLN"
/gene_synonym="CWS4; KILLIN"
/standard_name="D1S1423"
/db_xref="UniSTS:149619"
ORIGIN
gcagggcagggcagggggcggtaggagggggcagagcggtagctctgggtgcgagcgcagagtccccaagccgcaggctctactgagcatgcccagtgtagctgcctggggcttgctcgggccggttcccagccgccagcctgcagctgcacttgctgcggcttttgcagcaacgcgaggcgaggataacgagctaagcctcggcctctgcccagaaacccagccggaggcagggtaggctgttgtggggcgggggtggaggactgatgatgaaagctgagatgggtgcgttgagcagtgtcactgactcgagtctgaggttacctgtgcacaggtgaaaaggaccaggtgaccacgctgctcagtgtagagggaaatgcagggacggtccctgcaaggggaataccctccccccttgcctctacccctagatttccgcggcgtggactgcattcgctctttccttttgcaccgctgtcggatcacaatcgttcgcagagatttgactgtaacagcctttgcctagagattcccccttcccccaaatctgtgtcctcatggtgtcagtcttagcacaaagagcaacctgctattgtgtcgccagcgtgtatcacctcatccggctcccttgcagcgccccacctctcgcttccccggtaactcggctcgtttgccctaaaaatgaaagctctcagccgagcgtgctgaacgtgaacacatagccgttgaatttcaagggcccaaagggcacctatctaaatgaactgaaagaggatccctgtgagtgggacgcaccccgcaggcctctcctgcgcccgctccggtgcccccaagagagtcgagcatctttcccctcgggctccaggtcggttcgcggcgtcggagtcaagctcggttctcagagaccacctagccccgcccccccttggccgccgtgaaaacccggcaggatggatcgcccggggccaggctccgcgcgccccggccggaccgtgcacgtttggggttaccgggttgagtggaaagtacggaacggtaggaagctgcagcccagcgagtgggcggggcgaggagacctaggagggttcaaaaggaggtggaaggatacacgggccacagtcggaactactttccgaaggaggtcacgtgtgtccctagttggggaactttccaaattcccactccccagtgatagctccggaggcaagtcgtcttcttcctttgctcggggtgctcttgcctggtgcaggcagcggaaccccaacccttcctgcgccgcggcggaaacaggggctcggaccagcctcccgaaggagcgctgtcggggctggcgcttggggaactggttacacaagcacccacatccaaacacgtgcccccgcctccccgcctgctggctgccgccgattcttacagaacgcggggagagagtccccaaactggtgccactcctcgcctgctaccctaagagcaagccaaaggactgagacctgagactcactccttgctctacatcgacctattctgcgccttcccaaacgtgggaaaaggagctgggcgctagggctctcgggcctctccatcgctgatgccctgccgcttagggtgaacccttttggttctgtgcttgagggtatctcctgctgcagcccagagcgtgcattctccgatgttgcaacaaacgtccagtcactacccctgagctggtgagcgcgccccacctactgtggactcagccaagtgacttatctggtctgagaacctagtcaatggccgtcagcccagaacaaacctgtcaagtctgtttacagccccgattgggctgacctgtcaccgtgagagagctgattcggaaatgctgagagttggatcgcactcctaccccgcaccccacccgtcaaggatctacaaagcaagtagtcgacccgcttaaagagaatgagcatcaacaccagtctgggaatttattgttttttcatttcccttaggaagtagaactacagacgacaatttgagtcaaaaaatatctaacgagacctaggttgaagcactgagttgtttttcaaactttgagagaatgagaatcaatctgcatgtgtgttcaataattgtaagtgcctagcaaagtctaaagagggtttatgctgtatttgagaaagagtactgtatatgtgcacatcatagttgcaggcaacctctgaagactagaaacctcaagagacctagcgcagaaagccacaggccattacctaactccgggactactaattaaacctgggatatttacagtgttcttagagacctctgaggctccataaaactttgcacttatatacagcatttaagatagctgtgcaggagttaacaacctgctgaagcttcagtgttgatatttattgaagactggttttgtgcatagttctggtcagcttgggaaaggcaaggaccacagtggaaaaggaaatggaaagcaaccggaaaagagtaagagaaaggcctccagttgatttccagagatgcagatactgtccacacagcctagcgtgaactacagatttcattattgtataaataaccaaagataaggagttcctgatgtctaggtgttctactagattgcatggtaaaaaccagagctgtgtttaattatcaattactgcgtggtagaaaaagggaaaatgaagatgaacttttaaaaggggagtagattagggaggggtaaaatgtctcacatttgtttcttagattgctgatcttgtctccagagtccctgttattagcactgcccttctctgtccctcccctggagcctaccctaagtgacaattagtctcatagcatctgagaatctctgaaatctgctttcatggaagcaaatgaaacaagggtgcattcctgtcctggtgcgacagaatcctcttggattccatggcacagagttactctggagcagagataatctgcatcaccagcactaaagtgctagaatatgagaccagcctccaagtacttccatccggctgaagaaagaaaatgggaaatgggttttactgcttctctaaacatcaggtccctctacttctctctagtggtgaatgaaaggatcatcaatgttggcagatatttggccagcccaacagcaacatcaggtggttattaggagttggtgaataaaatcctccttctgttcctagtgttaagttgtttctgaaagaaatactgatgcatccttttccaattttttgtttttcttttcctttctacccaaatggctggccctatctaaactaaagaaagtttcaaaaatagtacttttttaaagttcagttgaaaatacctgcttggctgtatagatattacaatacactggtctccaagcacttcagttctttttttttttttctttttttttttttttttttgagacggagtctcacaggctggagtgcagtggcatgatctcggttcactgcaacctctgcctcccaggttcaagcaattcccctgcctcagcctcccgagtagctgggactacaggcgcacaccatcatgccgggctaattttttgtagtttagtaaagacagggtttcaccatgttggtcaggatggtctcgatctcctgacctcgtgatctgcccgccacggcctcccaaagtgctgggattacaggcgtgagccaccgcgcccggccatacttagttctttacctgtctggattcagaaccagaataccatagggagaagtagaagcttgtaacaaagggacaattatataaagcttcagggtgactatgtagattgattagtaagcatggtaaactagctttaattatcgcttctaacagctgattccaaaactctattgttactacaccaaaataatgtcgaaagaaaatttctttcttattttctttgataagcgaaatgaccagcaacttgatgtggatgatataaatacttgatgtgctctttgtaggtcatctgctaagatgtcttttgtgtaaacactctgatctctatagtgcctttctcatctcccatacgctgacctttcaaaaagggatctaactcaatagctttaatttttaaacaatcttctgtatttctgtctgtttaactactgttttctaaataatacagaatataaaaacataataatcattggattgaatgtaaacccattgttccaagggtctgaggttttccccttatttcatttatcctaataacaaacattattgttctttcaataaagataattttaagacattctcca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:100144748 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:100144748 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:100144748 -> Biological process: GO:0007049 [cell cycle] evidence: IEA
GeneID:100144748 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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