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2025-05-09 17:30:36, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001114635 6874 bp mRNA linear PRI 06-MAY-2013
DEFINITION Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript
variant 3, mRNA.
ACCESSION NM_001114635
VERSION NM_001114635.1 GI:167857797
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 6874)
AUTHORS Akhtar,M., Holmgren,C., Gondor,A., Vesterlund,M., Kanduri,C.,
Larsson,C. and Ekstrom,T.J.
TITLE Cell type and context-specific function of PLAG1 for IGF2 P3
promoter activity
JOURNAL Int. J. Oncol. 41 (6), 1959-1966 (2012)
PUBMED 23023303
REMARK GeneRIF: PLAG1 binding to the IGF2 P3 promoter and IGF2 expression
is cell type-specific, and that the PLAG1 transcription factor acts
as a transcriptional facilitator that partially overrides the
insulation by the H19 ICR.
REFERENCE 2 (bases 1 to 6874)
AUTHORS Bahrami,A., Dalton,J.D., Shivakumar,B. and Krane,J.F.
TITLE PLAG1 alteration in carcinoma ex pleomorphic adenoma:
immunohistochemical and fluorescence in situ hybridization studies
of 22 cases
JOURNAL Head Neck Pathol 6 (3), 328-335 (2012)
PUBMED 22485045
REMARK GeneRIF: We conclude that most Carcinoma ex pleomorphic adenoma,
regardless of morphologic subtype,carry altered PLAG1 genes
REFERENCE 3 (bases 1 to 6874)
AUTHORS Friedrich,R.E., Dilcher,J., Jaehne,M. and Loning,T.
TITLE Chromosomal rearrangements in PLAG1 of myoepithelial salivary gland
tumours
JOURNAL Anticancer Res. 32 (5), 1977-1981 (2012)
PUBMED 22593475
REMARK GeneRIF: PLAG1 is evidently not involved in the development of
myoepithelial tumours. The proportion of 8q12-alterations in
myoepithelial tumours was very low.
REFERENCE 4 (bases 1 to 6874)
AUTHORS Bahrami,A., Dalton,J.D., Krane,J.F. and Fletcher,C.D.
TITLE A subset of cutaneous and soft tissue mixed tumors are genetically
linked to their salivary gland counterpart
JOURNAL Genes Chromosomes Cancer 51 (2), 140-148 (2012)
PUBMED 22038920
REMARK GeneRIF: myoepithelial tumors with PLAG1 alteration share a common
morphologic phenotype with salivary gland-like morphology and are
genetically related to their salivary gland counterpart
REFERENCE 5 (bases 1 to 6874)
AUTHORS Matsuyama,A., Hisaoka,M. and Hashimoto,H.
TITLE PLAG1 expression in mesenchymal tumors: an immunohistochemical
study with special emphasis on the pathogenetical distinction
between soft tissue myoepithelioma and pleomorphic adenoma of the
salivary gland
JOURNAL Pathol. Int. 62 (1), 1-7 (2012)
PUBMED 22192798
REMARK GeneRIF: PLAG1 immunohistochemistry is useful for distinguishing
lipoblastoma from other lipomatous tumors including liposarcoma.
REFERENCE 6 (bases 1 to 6874)
AUTHORS Astrom,A.K., Voz,M.L., Kas,K., Roijer,E., Wedell,B., Mandahl,N.,
Van de Ven,W., Mark,J. and Stenman,G.
TITLE Conserved mechanism of PLAG1 activation in salivary gland tumors
with and without chromosome 8q12 abnormalities: identification of
SII as a new fusion partner gene
JOURNAL Cancer Res. 59 (4), 918-923 (1999)
PUBMED 10029085
REFERENCE 7 (bases 1 to 6874)
AUTHORS Kas,K., Voz,M.L., Hensen,K., Meyen,E. and Van de Ven,W.J.
TITLE Transcriptional activation capacity of the novel PLAG family of
zinc finger proteins
JOURNAL J. Biol. Chem. 273 (36), 23026-23032 (1998)
PUBMED 9722527
REFERENCE 8 (bases 1 to 6874)
AUTHORS Voz,M.L., Astrom,A.K., Kas,K., Mark,J., Stenman,G. and Van de
Ven,W.J.
TITLE The recurrent translocation t(5;8)(p13;q12) in pleomorphic adenomas
results in upregulation of PLAG1 gene expression under control of
the LIFR promoter
JOURNAL Oncogene 16 (11), 1409-1416 (1998)
PUBMED 9525740
REFERENCE 9 (bases 1 to 6874)
AUTHORS Kas,K., Roijer,E., Voz,M., Meyen,E., Stenman,G. and Van de Ven,W.J.
TITLE A 2-Mb YAC contig and physical map covering the chromosome 8q12
breakpoint cluster region in pleomorphic adenomas of the salivary
glands
JOURNAL Genomics 43 (3), 349-358 (1997)
PUBMED 9268638
REFERENCE 10 (bases 1 to 6874)
AUTHORS Kas,K., Voz,M.L., Roijer,E., Astrom,A.K., Meyen,E., Stenman,G. and
Van de Ven,W.J.
TITLE Promoter swapping between the genes for a novel zinc finger protein
and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12)
translocations
JOURNAL Nat. Genet. 15 (2), 170-174 (1997)
PUBMED 9020842
REMARK Erratum:[Nat Genet 1997 Apr;15(4):411]
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC347559.1 and AC107952.5.
Summary: Pleomorphic adenoma gene 1 encodes a zinc finger protein
with 2 putative nuclear localization signals. PLAG1, which is
developmentally regulated, has been shown to be consistently
rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is
activated by the reciprocal chromosomal translocations involving
8q12 in a subset of salivary gland pleomorphic adenomas. Three
transcript variants encoding two different isoforms have been found
for this gene. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (3) differs in the 5' UTR and
coding sequence compared to variant 1. The resulting isoform (b) is
shorter at the N-terminus compared to isoform a.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK296933.1, BX424854.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025098 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-570 DC347559.1 1-570
571-6874 AC107952.5 24501-30804 c
FEATURES Location/Qualifiers
source 1..6874
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q12"
gene 1..6874
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/note="pleiomorphic adenoma gene 1"
/db_xref="GeneID:5324"
/db_xref="HGNC:9045"
/db_xref="MIM:603026"
exon 1..180
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/inference="alignment:Splign:1.39.8"
exon 181..279
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/inference="alignment:Splign:1.39.8"
misc_feature 242..244
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/note="upstream in-frame stop codon"
exon 280..6874
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/inference="alignment:Splign:1.39.8"
CDS 284..1540
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/note="isoform b is encoded by transcript variant 3; zinc
finger protein PLAG1; COL1A2/PLAG1 fusion"
/codon_start=1
/product="zinc finger protein PLAG1 isoform b"
/protein_id="NP_001108107.1"
/db_xref="GI:167857798"
/db_xref="CCDS:CCDS47860.1"
/db_xref="GeneID:5324"
/db_xref="HGNC:9045"
/db_xref="MIM:603026"
/translation="
MATHSPEKTHKCNYCEKMFHRKDHLKNHLHTHDPNKETFKCEECGKNYNTKLGFKRHLALHAATSGDLTCKVCLQTFESTGVLLEHLKSHAGKSSGGVKEKKHQCEHCDRRFYTRKDVRRHMVVHTGRKDFLCQYCAQRFGRKDHLTRHMKKSHNQELLKVKTEPVDFLDPFTCNVSVPIKDELLPVMSLPSSELLSKPFTNTLQLNLYNTPFQSMQSSGSAHQMITTLPLGMTCPIDMDTVHPSHHLSFKYPFSSTSYAISIPEKEQPLKGEIESYLMELQGGVPSSSQDSQASSSSKLGLDPQIGSLDDGAGDLSLSKSSISISDPLNTPALDFSQLFNFIPLNGPPYNPLSVGSLGMSYSQEEAHSSVSQLPPQTQDLQDPANTIGLGSLHSLSAAFTSSLSTSTTLPRFHQAFQ
"
misc_feature 314..379
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/note="Zinc finger, C2H2 type; Region: zf-C2H2; cl15478"
/db_xref="CDD:210117"
STS 3021..3167
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/standard_name="RH12848"
/db_xref="UniSTS:31562"
variation 3076
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/replace="a"
/replace="t"
/db_xref="dbSNP:15584"
variation 3963
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/replace="g"
/replace="t"
/db_xref="dbSNP:1128143"
variation 4101
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128144"
variation 4120
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/replace="c"
/replace="t"
/db_xref="dbSNP:1128145"
STS 4264..4440
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/standard_name="A009Z02"
/db_xref="UniSTS:41375"
STS 4264..4440
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/standard_name="G33002"
/db_xref="UniSTS:117579"
STS 4397..4546
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
/standard_name="SGC34502"
/db_xref="UniSTS:2867"
polyA_signal 6852..6857
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
polyA_site 6874
/gene="PLAG1"
/gene_synonym="PSA; SGPA; ZNF912"
ORIGIN
agctgcaagttgggctgcaggggcagcgcatacactacaatggctgctggaaagaggcgtaaggaaacaatttccaggcccgccgcgtccagcccgaaatatgagaaaaaaattattagaaattccgcgggcggtgtagaggcggcggacgggccggagggaggatgttaaagccccgcgattggccaaaatgggaaggattggattccactctcttccacgaagagtcaatgggactggctaagatcaaagtctgaggctttttccatcagtaatcaggcacatggctactcattctcctgagaaaacccacaagtgtaattattgtgagaaaatgtttcaccggaaagatcatctgaagaatcacctccatacacacgaccctaacaaagagacgtttaagtgcgaagaatgtggcaagaactacaataccaagcttggatttaaacgtcacttggccttgcatgccgcaacaagtggtgacctcacctgtaaggtatgtttgcaaacttttgaaagcacgggagtgcttctggagcaccttaaatctcatgcaggcaagtcgtctggtggggttaaagaaaaaaagcaccagtgcgaacattgtgatcgccggttctacacccgaaaggatgtccggagacacatggtggtgcacactggaagaaaggacttcctctgtcagtattgtgcacagagatttgggcgaaaggatcacctgactcgacatatgaagaagagtcacaatcaagagcttctgaaggtcaaaacagaaccagtggatttccttgacccatttacctgcaatgtgtctgtgcctataaaagacgagctccttccggtgatgtccttaccttccagtgaactgttatcaaagccattcacaaacactttgcagttaaacctctacaacactccatttcagtccatgcagagctcgggatctgcccaccaaatgatcacaactttacctttgggaatgacatgcccaatagatatggacactgttcatccctctcaccacctttctttcaaatatccgttcagttctacctcatatgcaatttctattcctgaaaaagaacagccattaaagggggaaattgagagttacctgatggagttacaaggtggcgtgccctcttcatcccaagattctcaagcatcgtcatcatctaagctagggttggatcctcagattgggtccctagatgatggtgcaggagacctctccctatccaaaagctctatctccatcagtgaccccctaaacacaccagcattggatttttctcagttgtttaatttcatacctttaaatggtcctccctataatcctctatcagtggggagccttggaatgagctattcccaggaagaagcacattcttctgtttcccagctccccccacaaacacaggatcttcaggatcctgcaaacactatagggcttgggtctctgcactcactgtcagcagctttcaccagcagtttaagcacaagtaccaccctcccacgtttccatcaagcttttcagtaggattctgggacatggattcattacagaaatgtatgtgtagctgtgccctagatgaccatttttattttagtgcctactttaaaacagtataaaaatttctgcttttgtataatacaaattttcattaagccagtataaaatagaaactagcttttaaactgagctttggaaccatttgtgttcagttaagtttacctgggtattttgtcctgattcactgccaattgtcacattttaagacttttttttttccatataggaaagccattattagtagtaaacttttacaaatcccattttcaaattacttttagatcttaaaattttcatttttgtctaataacagtggctctaccttttgacatctggctcattaaaaaatttagcaatagaatgtaaattgtataaaaagtttgtgaataactcaagggtttaaattttcttactagcttctaaatggattaataatcaagtgcttcaaatgaattaagagtccagtttcggaagataataaatgtttgttagatacaccataatttcagatcagtatattctgaagactccctgttgtctggctaaaatatttgccatctttattatgagcctttaaggaaaacaaaccctaaacacaaagcatcagtatttatagcaaaaagagactctgttaggtgacatggcatttcgtgtcacttaatagttggccctaaattagtacacaggatattttgtcgtgtttcatccttcttaacatgctatcttttcatttaataatagtaatagtgtatggcattggggtcttcagagtcgatatataggtagatctctttagtcttttccacctttcacatccaaggggtgggtcaagtgcagccagcaatttattttcattgttggcccacggttagtccataatctagagccattgtggaactgcagccatgaggtgtgtttatcccacagtggattgactcagcctctgtgggtgacagacttctaagcaggaagatagacgtgaagcacatggttacatttgggaacttgtgtagggatcatggcccctgtagccagggttaaaaactggactttttagaagtaaagtaaaagcatatcgcttatatcatttcttgctgaatttgatatgtttttctttcccttaagaatcaaaagcagaaaacaaaaacaacagtcctactccgatgttatctttctgattcaatgtgaatccatctttccttgcaatattttggatggagaatttgaagttaaatgcattagaaaactacctgatgaactaccacaaagttttaagtgactagaaatatatacagtaaaatcccactttcatgcatctctgggaaatgataggagtattgcaaataagttgagtttgtagagggtaacaaagtaaagtaaaacaaacctatcttggttaacatgaaaataacaattgagaatatattatattcactgaataattataggcttttcctcacattagacaaccaacataatcttcttaaaggtctaattaatatatttttctaagggtcagttgggacattaacctaagaaacatatctattaagcacttgttaacaccttattttaggaccctttccgttggggatgggggcaagggtgggaggtttttagaagagtatatatctctttaaaaaaaaacagaaagaaaaatatttctgagcactcattagccctatatggaaacttctttcctttttgtagggccagttatcactgcagattgcaatgtttaccaagaatttctaaaaatgagtgcagattactgaatataatacattatttaaaatatttgggagtagtataatttgtggagaaatgtaaattgtaataatgtaaatgggggcttcaatatatatatataatacacacacacacacacatgcacacataccgcacttcatagaatcaaagttgctctctgaaggagctttggctcctgatattttatcatgctcctatatttttttaatccttggagcagtagtttttatacttatgtatttaaattttattatgaaaaattacatttattaaaaaagtgtgttccaaaggcattaaaattatatatgttaataaggaagtacatttttaaatttttcaaactgctcctagcttttgattaggagaatattttttctgaaagtaggcttttcgctctgcttcattactgcttcctttagtttctatgaaacagattgcttacctaaatctttagttgaatgattagtgttcaatattgctttaatcaccatataaaaggaaaaaaattggtgacagagcacaaatagaaaacctatttttaaatagaaatcacaaatagcaagtgtggaagcactactttattctgtttaaaatgtacttaagaagtcatcaaattagtgaactgagacattggccttagtaggctgtattcactgctaatttaaaaaagggagtaccaggatttattaagtaaagcattttggaaatggggaatagcgccatatatgtatgtatgtgtatgtgtgtgtgtgtgtgtgtatatatacacacacacacacatacttaaatcttgccctgcatgaaattcaaatacatggaggcacatcttcagggcaccagtgttaaaattttggagtcttaattttcatgtgtacacctctttgcctgttcccacccccagacttgaaataacacttcagagtaagagggaattcagctaatttgtttttaaaattgactgtagtggtcactaaaccctttttgagagaatttctattaaagatgaggcagactcgcttatttgaattgcacaatgttctaacaaggatgtaacacagaattggcttttttttccctagaaaaagattgtttgtttctatgtcaactagatatgattaaaaataagtattgccaatgctgttttcattctctagtggccagaatcattatccttgaaatttctggtagtgccttagcttggttaaaaaaaaaaaaaaaaaaaaaaaaaagggattaacattaaataaaagtagtttagaatttgggcctcagacaagatattgaacctcattcagtttcacttccacatgtatgtacaagttaggtcaccaaacacggaagtgtgagtgtggaaggatcttggcactgtaagcaatgctatccattgatgtatacaagtacctttatagttatcgatcactgttaaaactttcattttaaaatcctattaccaagttcagttttttaaaacttcaattgtcctggctgattatgcatcactctgtgtgcaacttttttatttcatttagtgtttctttcaagctgtgtatttttgcctatttgttgcttgtgctttatttttcttagtcatttgtggaatatagtgatatattgtgttaatttggacagtagcggtttttaaaaaccatatactgactgaaacatgagccagagccgattgctttattaagctaataatgaatgttaaagagtacatattttcaggatcgttcatctagtgagcaatacacatattataggccaatatttttttaaaaaatagagcttggtcaacctctatactacacatattacaagatatagcactttcaaaatgaatctaaacctttacagaaactttcttataggttatgccttttattttaagacttattataattcaagtgccattagatgatatatatgtaggcctttgatatataatgctttgtgtacaaaaatggtagatggtattttaaacaggtacatttttacagtgttttcttatcaatttgctatattgcacagaatcagtgtgtgtcttttcataaggttttacaatggtttatttttttacaaggtttacgtgtctcaaagcacactgtcttcccagtacgtaagttaaaaaataccagttcacccaagttgcttctagcctactgagatccatgtgacattggaggagatcttttaaatgtttagtattcgtcattagcaatggctggctgttagttctggtaaatgtgtgcctaagttgaatttgtcttgtttttctcacactgtgtcagcagccatgtctacaacacagataagtctgttgtgatcacatagatctacataagttgtgcagttttgtgctaaaaacccatagggagctcctttgggatcatagaaaagaagatcatgcaaccagcattggtgaaggcacactcagattgcacttagggcctttctatgatgttgtcaaccctctgaggatggaaggcagtgtcttttgatgttatctagcctagaaatgacacagaactattgctaatgtataaaacacttcattatataagcttcagtggtacagatgaaccagaatgaatgtttatcttctcagaaacactccttcaatattatattggatcatgctgctaatgtaacttgggctacaactcttcatggtgctacaaacttctctgtctcattcagtcgtatttttttatccatagaaaaaggactacattaggtgtaaaagtgtacaatatatttttatactgtgacttaatttgtcattaacaaacttttacaccaccacaatgtattcatgtgcacttgcaaaaggagatctcggacatgcaaatgttaccagaacaaacccagcttttgtccacaaggtgactgtaactcagaatggaaagtgggctttataatagggtgtggagtgaagaacatgctgtatgttactaacagccctttgaatttaacaaaaactgggaatccattaggaaacggattgcatcatacctgaacataagctggactgctgaaattgtatttttagctaatgaaaaagtgtttggactagtactctaaaaatgttctaatgataaagttttgagtcaaaatagaaaagaaaaaaatctgcattccaggccgaattttgtatatttttattgcatttaaaattgctattctgtaatattgggaaatcaagtggcttatcatgtatatcgtgtacttaaaatgtattcacaaactactgttgtatttgtataaaatatagacaaagatcatattttttgtgtgtgtataagctctgtaaaatagcaatcacattatgaagctgcagtgatactacattttaaacattcacatccaaagaagcagactatttattgtccatataccagatttaaaatattaatttgctgctaattaaataatagtactgcagcttcttgtggcctacagtgttatgtttgctgtaagaataagatatgtgaattccacaaaatatatgaataaaattatagaatggcttta
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5324 -> Molecular function: GO:0000981 [sequence-specific DNA binding RNA polymerase II transcription factor activity] evidence: IBA
GeneID:5324 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:5324 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: TAS
GeneID:5324 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:5324 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: IBA
GeneID:5324 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IBA
GeneID:5324 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: IEA
GeneID:5324 -> Biological process: GO:0010629 [negative regulation of gene expression] evidence: IEA
GeneID:5324 -> Biological process: GO:0022612 [gland morphogenesis] evidence: IEA
GeneID:5324 -> Biological process: GO:0035264 [multicellular organism growth] evidence: IEA
GeneID:5324 -> Biological process: GO:0035265 [organ growth] evidence: IEA
GeneID:5324 -> Biological process: GO:0060252 [positive regulation of glial cell proliferation] evidence: IEA
GeneID:5324 -> Biological process: GO:0060736 [prostate gland growth] evidence: IEA
GeneID:5324 -> Cellular component: GO:0005634 [nucleus] evidence: IBA
by
@meso_cacase at
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