LOCUS       NM_001317162            3269 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens PLAG1 like zinc finger 1 (PLAGL1), transcript variant
            28, mRNA.
ACCESSION   NM_001317162
VERSION     NM_001317162.2
KEYWORDS    RefSeq; MANE Select.
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 3269)
  AUTHORS   Lee,J.C., Koo,S.C., Furtado,L.V., Breuer,A., Eldomery,M.K.,
            Bag,A.K., Stow,P., Rose,G., Larkin,T., Sances,R.,
            Kleinschmidt-DeMasters,B.K., Bodmer,J.L., Willard,N., Gokden,M.,
            Dahiya,S., Roberts,K., Bertrand,K.C., Moreira,D.C., Robinson,G.W.,
            Mo,J.Q., Ellison,D.W. and Orr,B.A.
  TITLE     Concurrent ependymal and ganglionic differentiation in a subset of
            supratentorial neuroepithelial tumors with EWSR1-PLAGL1
            rearrangement
  JOURNAL   Acta Neuropathol Commun 12 (1), 143 (2024)
   PUBMED   39228008
  REMARK    GeneRIF: Concurrent ependymal and ganglionic differentiation in a
            subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1
            rearrangement.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3269)
  AUTHORS   Bielamowicz,K.J., Littrell,M.B., Albert,G.W., Parker,L.S.,
            Jayappa,S., Aldape,K. and Gokden,M.
  TITLE     Central nervous system embryonal tumors with EWSR1-PLAGL1
            rearrangements reclassified as INI-1 deficient tumors at relapse
  JOURNAL   J Neurooncol 168 (2), 367-373 (2024)
   PUBMED   38639853
  REMARK    GeneRIF: Central nervous system embryonal tumors with EWSR1-PLAGL1
            rearrangements reclassified as INI-1 deficient tumors at relapse.
REFERENCE   3  (bases 1 to 3269)
  AUTHORS   Valleley,E.M., Cordery,S.F. and Bonthron,D.T.
  TITLE     Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene
            results from variable utilization of monoallelic and biallelic
            promoters
  JOURNAL   Hum Mol Genet 16 (8), 972-981 (2007)
   PUBMED   17341487
  REMARK    GeneRIF: Tissue-specific imprinting of PLAGL1 gene results from
            variable use of monoallelic and biallelic promoters.
REFERENCE   4  (bases 1 to 3269)
  AUTHORS   Bilanges,B., Varrault,A., Mazumdar,A., Pantaloni,C., Hoffmann,A.,
            Bockaert,J., Spengler,D. and Journot,L.
  TITLE     Alternative splicing of the imprinted candidate tumor suppressor
            gene ZAC regulates its antiproliferative and DNA binding activities
  JOURNAL   Oncogene 20 (10), 1246-1253 (2001)
   PUBMED   11313869
REFERENCE   5  (bases 1 to 3269)
  AUTHORS   Kamiya,M., Judson,H., Okazaki,Y., Kusakabe,M., Muramatsu,M.,
            Takada,S., Takagi,N., Arima,T., Wake,N., Kamimura,K., Satomura,K.,
            Hermann,R., Bonthron,D.T. and Hayashizaki,Y.
  TITLE     The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong
            candidate gene for transient neonatal diabetes
  JOURNAL   Hum Mol Genet 9 (3), 453-460 (2000)
   PUBMED   10655556
  REMARK    GeneRIF: PLAGL1 gene is imprinted, with preferential expression
            from the paternal allele in many tissues.
REFERENCE   6  (bases 1 to 3269)
  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   7  (bases 1 to 3269)
  AUTHORS   Abdollahi,A., Roberts,D., Godwin,A.K., Schultz,D.C., Sonoda,G.,
            Testa,J.R. and Hamilton,T.C.
  TITLE     Identification of a zinc-finger gene at 6q25: a chromosomal region
            implicated in development of many solid tumors
  JOURNAL   Oncogene 14 (16), 1973-1979 (1997)
   PUBMED   9150364
REFERENCE   8  (bases 1 to 3269)
  AUTHORS   Temple,I.K., Gardner,R.J., Robinson,D.O., Kibirige,M.S.,
            Ferguson,A.W., Baum,J.D., Barber,J.C., James,R.S. and Shield,J.P.
  TITLE     Further evidence for an imprinted gene for neonatal diabetes
            localised to chromosome 6q22-q23
  JOURNAL   Hum Mol Genet 5 (8), 1117-1121 (1996)
   PUBMED   8842729
REFERENCE   9  (bases 1 to 3269)
  AUTHORS   Temple,I.K., James,R.S., Crolla,J.A., Sitch,F.L., Jacobs,P.A.,
            Howell,W.M., Betts,P., Baum,J.D. and Shield,J.P.
  TITLE     An imprinted gene(s) for diabetes?
  JOURNAL   Nat Genet 9 (2), 110-112 (1995)
   PUBMED   7719335
REFERENCE   10 (bases 1 to 3269)
  AUTHORS   Temple,I.K. and Mackay,D.J.G.
  TITLE     Diabetes Mellitus, 6q24-Related Transient Neonatal
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301706
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA370204.1, AJ311395.1 and
            AI741398.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001317162.1.
            
            Summary: This gene encodes a C2H2 zinc finger protein that
            functions as a suppressor of cell growth. This gene is often
            deleted or methylated and silenced in cancer cells. In addition,
            overexpression of this gene during fetal development is thought to
            be the causal factor for transient neonatal diabetes mellitus
            (TNDM). Alternative splicing and the use of alternative promoters
            results in multiple transcript variants encoding two different
            protein isoforms. The P1 downstream promoter of this gene is
            imprinted, with preferential expression from the paternal allele in
            many tissues. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (28) initiates from the P1
            promoter and differs in the 5' UTR compared to variant 2. Variants
            2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and
            28 all encode the same isoform (2).
            
            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 :: SRR18074969.811458.1,
                                           SRR14038194.2573921.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 17341487, 10655556
            MANE Ensembl match     :: ENST00000674357.1/ ENSP00000501459.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-485               DA370204.1         1-485
            486-3267            AJ311395.1         882-3663
            3268-3269           AI741398.1         6-7                 c
FEATURES             Location/Qualifiers
     source          1..3269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.2"
     gene            1..3269
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /note="PLAG1 like zinc finger 1"
                     /db_xref="GeneID:5325"
                     /db_xref="HGNC:HGNC:9046"
                     /db_xref="MIM:603044"
     exon            1..170
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            171..210
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            211..282
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            283..323
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            324..355
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            356..429
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            430..905
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             754..2145
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /note="isoform 2 is encoded by transcript variant 28;
                     PLAG-like 1; zinc finger protein PLAGL1; lost on
                     transformation 1; tumor suppressor ZAC; pleiomorphic
                     adenoma gene-like 1"
                     /codon_start=1
                     /product="zinc finger protein PLAGL1 isoform 2"
                     /protein_id="NP_001304091.1"
                     /db_xref="CCDS:CCDS5202.1"
                     /db_xref="GeneID:5325"
                     /db_xref="HGNC:HGNC:9046"
                     /db_xref="MIM:603044"
                     /translation="MATFPCQLCGKTFLTLEKFTIHNYSHSRERPYKCVQPDCGKAFV
                     SRYKLMRHMATHSPQKSHQCAHCEKTFNRKDHLKNHLQTHDPNKMAFGCEECGKKYNT
                     MLGYKRHLALHAASSGDLTCGVCALELGSTEVLLDHLKAHAEEKPPSGTKEKKHQCDH
                     CERCFYTRKDVRRHLVVHTGCKDFLCQFCAQRFGRKDHLTRHTKKTHSQELMKESLQT
                     GDLLSTFHTISPSFQLKAAALPPFPLGASAQNGLASSLPAEVHSLTLSPPEQAAQPMQ
                     PLPESLASLHPSVSPGSPPPPLPNHKYNTTSTSYSPLASLPLKADTKGFCNISLFEDL
                     PLQEPQSPQKLNPGFDLAKGNAGKVNLPKELPADAVNLTIPASLDLSPLLGFWQLPPP
                     ATQNTFGNSTLALGPGESLPHRLSCLGQQQQEPPLAMGTVSLGQLPLPPIPHVFSAGT
                     GSAILPHFHHAFR"
     exon            906..3269
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3247..3252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /note="hexamer: AATAAA"
     polyA_site      3269
                     /gene="PLAGL1"
                     /gene_synonym="LOT1; ZAC; ZAC1"
                     /note="major polyA site"
ORIGIN      
        1 ctcactctcc gggcgggtgc tggacggacg gacggacggg gcagccgtgc tcacagctca
       61 gcagcgcggg gccttggcgc gcggggcgct tccccgggtc gccgtcatgg ccgcggaggt
      121 ggcacgcccg agcggcctcg cctgagctcc gggggtcgtc gccccgcagg attgttcctg
      181 cctgattcat aaacatcgtg attggctttt gattgctgtc acgtctaatg tggctgctgc
      241 ctcgtgtcac atctgaaact catctgtacc tcacttagaa agtcgacaga aacctaatgg
      301 gaccattgaa gaattccaaa caggtatttg cataggaatc agaggagtta atcttgtttg
      361 aatcttcaga caaacttctg ggaggactcg gtccctgcct cgcagcagat gttccctgtc
      421 actcagtagc caatccgggg gacccaggac atgccccagc tatagtgatg cagattacct
      481 ttctgctcct gaatcgcacc tgtgcctcag actttctccc ctcagcttga gactgcatgt
      541 aaactgggat gtgtgaaagc aggaagcaaa gctagtgaca gctgagaggt ccatgtctgg
      601 gtagaaccag gcccacgatg ctgcctctcc cgtggtctgg agttcagctg cagggactct
      661 gctgatgtgc ccagcaccat cgttctgttt gtgcttaaat ggcacagcat ttggtcagca
      721 catctgaaaa ggaaggtgtg agaagcaaag cccatggcca cgttcccctg ccagttatgt
      781 ggcaagacgt tcctcaccct ggagaagttc acgattcaca attattccca ctccagggag
      841 cggccgtaca agtgtgtgca gcctgactgt ggcaaagcct ttgtttccag atataaattg
      901 atgaggcata tggctaccca ttctccccag aaatctcacc agtgtgctca ctgtgagaag
      961 acgttcaacc ggaaagacca cctgaaaaac cacctccaga cccacgaccc caacaaaatg
     1021 gcctttgggt gtgaggagtg tgggaagaag tacaacacca tgctgggcta taagaggcac
     1081 ctggccctcc atgcggccag cagtggggac ctcacctgtg gggtctgtgc cctggagcta
     1141 gggagcaccg aggtgctact ggaccacctc aaagcccatg cggaagagaa gccccctagc
     1201 ggaaccaagg aaaagaagca ccagtgcgac cactgtgaaa gatgcttcta cacccggaag
     1261 gatgtgcgac gccacctggt ggtccacaca ggatgcaagg acttcctgtg ccagttctgt
     1321 gcccagagat ttgggcgcaa ggatcacctc acccggcata ccaagaagac ccactcacag
     1381 gagctgatga aagagagctt gcagaccgga gaccttctga gcaccttcca caccatctcg
     1441 ccttcattcc aactgaaggc tgctgccttg cctcctttcc ctttaggagc ttctgcccag
     1501 aacgggcttg caagtagctt gccagctgag gtccatagcc tcaccctcag tcccccagaa
     1561 caagccgccc agcctatgca gccgctgcca gagtccctgg cctccctcca cccctcggta
     1621 tcccctggct ctcctccgcc accccttccc aatcacaagt acaacaccac ttctacctca
     1681 tactccccac ttgcaagcct gcccctcaaa gcagatacta aaggtttttg caatatcagt
     1741 ttgtttgagg acttgcctct gcaagagcct cagtcacctc aaaagctcaa cccaggtttt
     1801 gatctggcta agggaaatgc tggtaaagta aacctgccca aggagctgcc tgcagatgct
     1861 gtgaacctaa caatacctgc ctctctggac ctgtcccccc tgttgggctt ctggcagctg
     1921 ccccctcctg ctacccaaaa tacctttggg aatagcactc ttgccctggg gcctggggaa
     1981 tctttgcccc acaggttaag ctgtctgggg cagcagcagc aagaaccccc acttgccatg
     2041 ggcactgtga gcctgggcca gctccccctg ccccccatcc ctcatgtgtt ctcagctggc
     2101 actggctctg ccatcctgcc tcatttccat catgcattca gataattgat ttttaaagtg
     2161 tatttttcgt attctggaag atgttttaag aagcatttta aatgtcagtt acaatatgag
     2221 aaagatttgg aaaacgagac tgggactatg gcttattcag tgatgactgg cttgagatga
     2281 taagagaatt ctcgaactgc atgtattgtg ccaatctgtc ctgagtgttc atgctttgta
     2341 ccaaatttaa tgaacgcgtg ttctgtaatc aaactgcaaa tattgtcata accaacatcc
     2401 aaaatgacgg ctgctatata taagtgtttg tcatatggaa tttaatcgta agccatgatc
     2461 ataatgttaa ctaaataact ttatgtggca ctgcctagta agggaactat ggaaaggttt
     2521 ggatttctcc aaatctggga gaattttcaa aataagaaaa taacctttat atgatatact
     2581 atgactaggc tgtgtatttc ttttcaggga tttttctacc ttcagggttg gatgtagttt
     2641 agttactatt accatagcca acctgtagtt ttacatatac attttcttgt ggagcaatag
     2701 agttctccat tttacagaag cattttaaat gtagtttgaa tattttccac aagatgctgc
     2761 aatgtgagtt atcacttcat ttatcttaaa gaaagactaa actggttgtc agttacatct
     2821 gacagaaaaa aaaaaaaaat cactgtgtaa ccaggttaag tggtaaaata atccaggcgt
     2881 cagtcaaagg cattttgctg actttaatat tgattatatt tttaacagga atttaagaaa
     2941 atattactgg aattaaaaat atatatatat taaacaagaa ttttctttgc tctgtctagc
     3001 ttaaactact actcaagctg cttaagttct taagtattgt ttgtaatcac caataaataa
     3061 gtgcatttgt aattcatcag tcattattag cttttattaa aagaagatta cgttttacaa
     3121 tgtaactata atctcttgaa tttggtatct tattaatgag ttttaaagat gtaaaaccta
     3181 acctttttta aagctccatt gtcttatgtt tttagaggct tttccgtaaa catatatctt
     3241 acatataata aacttttcaa atcttgcaa
//
