LOCUS       NM_002402               2646 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens mesoderm specific transcript (MEST), transcript
            variant 1, mRNA.
ACCESSION   NM_002402
VERSION     NM_002402.4
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 2646)
  AUTHORS   Huang,M., Zhang,F., Zhu,Y., Zeng,H. and Li,S.
  TITLE     MEST promotes immune escape in gastric cancer by downregulating
            MHCI expression via SHP2
  JOURNAL   Int J Biochem Cell Biol 174, 106621 (2024)
   PUBMED   39181599
  REMARK    GeneRIF: MEST promotes immune escape in gastric cancer by
            downregulating MHCI expression via SHP2.
REFERENCE   2  (bases 1 to 2646)
  AUTHORS   Wang,H., Cui,X., Wang,L., Fan,N., Yu,M., Qin,H., Liu,S. and Yan,Q.
  TITLE     alpha1,3-fucosylation of MEST promotes invasion potential of
            cytotrophoblast cells by activating translation initiation
  JOURNAL   Cell Death Dis 14 (10), 651 (2023)
   PUBMED   37798282
  REMARK    GeneRIF: alpha1,3-fucosylation of MEST promotes invasion potential
            of cytotrophoblast cells by activating translation initiation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2646)
  AUTHORS   Xu,W.W., Liao,L., Dai,W., Zheng,C.C., Tan,X.P., He,Y., Zhang,Q.H.,
            Huang,Z.H., Chen,W.Y., Qin,Y.R., Chen,K.S., He,M.L., Law,S.,
            Lung,M.L., He,Q.Y. and Li,B.
  TITLE     Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA
            interaction in cancer metastasis
  JOURNAL   EBioMedicine 92, 104587 (2023)
   PUBMED   37149929
  REMARK    GeneRIF: Genome-wide CRISPR/Cas9 screening identifies a targetable
            MEST-PURA interaction in cancer metastasis.
REFERENCE   4  (bases 1 to 2646)
  AUTHORS   McMinn,J., Wei,M., Sadovsky,Y., Thaker,H.M. and Tycko,B.
  TITLE     Imprinting of PEG1/MEST isoform 2 in human placenta
  JOURNAL   Placenta 27 (2-3), 119-126 (2006)
   PUBMED   16338457
  REMARK    GeneRIF: PEG1 isoform 2 is in fact imprinted in a large subset of
            human placentae.
REFERENCE   5  (bases 1 to 2646)
  AUTHORS   Kosaki,K., Kosaki,R., Craigen,W.J. and Matsuo,N.
  TITLE     Isoform-specific imprinting of the human PEG1/MEST gene
  JOURNAL   Am J Hum Genet 66 (1), 309-312 (2000)
   PUBMED   10631159
  REMARK    GeneRIF: MEST gene is imprinted in an isoform-specific manner in
            adult lymphocytes.
REFERENCE   6  (bases 1 to 2646)
  AUTHORS   Riesewijk,A.M., Hu,L., Schulz,U., Tariverdian,G., Hoglund,P.,
            Kere,J., Ropers,H.H. and Kalscheuer,V.M.
  TITLE     Monoallelic expression of human PEG1/MEST is paralleled by
            parent-specific methylation in fetuses
  JOURNAL   Genomics 42 (2), 236-244 (1997)
   PUBMED   9192843
  REMARK    GeneRIF: MEST gene is imprinted, with preferential expression from
            the paternal allele in fetal tissues.
REFERENCE   7  (bases 1 to 2646)
  AUTHORS   Kobayashi,S., Kohda,T., Miyoshi,N., Kuroiwa,Y., Aisaka,K.,
            Tsutsumi,O., Kaneko-Ishino,T. and Ishino,F.
  TITLE     Human PEG1/MEST, an imprinted gene on chromosome 7
  JOURNAL   Hum Mol Genet 6 (5), 781-786 (1997)
   PUBMED   9158153
REFERENCE   8  (bases 1 to 2646)
  AUTHORS   Cuisset,L., Le Stunff,C., Dupont,J.M., Vasseur,C., Cartigny,M.,
            Despert,F., Delpech,M., Bougnere,P. and Jeanpierre,M.
  TITLE     PEG1 expression in maternal uniparental disomy 7
  JOURNAL   Ann Genet 40 (4), 211-215 (1997)
   PUBMED   9526615
REFERENCE   9  (bases 1 to 2646)
  AUTHORS   Nishita,Y., Yoshida,I., Sado,T. and Takagi,N.
  TITLE     Genomic imprinting and chromosomal localization of the human MEST
            gene
  JOURNAL   Genomics 36 (3), 539-542 (1996)
   PUBMED   8884280
REFERENCE   10 (bases 1 to 2646)
  AUTHORS   Saal,H.M., Harbison,M.D. and Netchine,I.
  TITLE     Silver-Russell Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301499
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC367784.1, BC011908.2,
            BC090049.1, AA728839.1 and AC007938.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002402.3.
            
            Summary: This gene encodes a member of the alpha/beta hydrolase
            superfamily. It is imprinted, exhibiting preferential expression
            from the paternal allele in fetal tissues, and isoform-specific
            imprinting in lymphocytes. The loss of imprinting of this gene has
            been linked to certain types of cancer and may be due to promotor
            switching. The encoded protein may play a role in development.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been identified for this gene. Pseudogenes of this
            gene are located on the short arm of chromosomes 3 and 4, and the
            long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). This isoform (a) is
            imprinted and expressed only from the paternal allele.
            
            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 :: BC011908.2, Y11534.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 10631159, 16338457, 9192843
            MANE Ensembl match     :: ENST00000223215.10/ ENSP00000223215.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DC367784.1         28-35
            9-1928              BC011908.2         1-1920
            1929-2473           BC090049.1         1614-2158
            2474-2478           AA728839.1         9-13                c
            2479-2646           AC007938.1         161716-161883
FEATURES             Location/Qualifiers
     source          1..2646
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.2"
     gene            1..2646
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /note="mesoderm specific transcript"
                     /db_xref="GeneID:4232"
                     /db_xref="HGNC:HGNC:7028"
                     /db_xref="MIM:601029"
     exon            1..255
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             230..1237
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /note="isoform a is encoded by transcript variant 1;
                     paternally-expressed gene 1 protein"
                     /codon_start=1
                     /product="mesoderm-specific transcript homolog protein
                     isoform a"
                     /protein_id="NP_002393.2"
                     /db_xref="CCDS:CCDS5822.1"
                     /db_xref="GeneID:4232"
                     /db_xref="HGNC:HGNC:7028"
                     /db_xref="MIM:601029"
                     /translation="MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWK
                     SSGKFFTYKGLRIFYQDSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIAL
                     DFLGFGFSDKPRPHHYSIFEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRY
                     KQNRSGRLTIKSLCLSNGGIFPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLT
                     PVFGPYTRPSESELWDMWAGIRNNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPI
                     HFIYGPLDPVNPYPEFLELYRKTLPRSTVSILDDHISHYPQLEDPMGFLNAYMGFINS
                     F"
     exon            256..410
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            411..490
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            491..568
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            569..705
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            706..764
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            765..805
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            806..876
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            877..978
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1055
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1119
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..2646
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2457..2462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /note="hexamer: AATGAA"
     polyA_site      2473
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /note="major polyA site"
     regulatory      2565..2570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /note="hexamer: AATAAA"
     regulatory      2570..2575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEST"
                     /gene_synonym="PEG1"
                     /note="hexamer: AATGAA"
     polyA_site      2589
                     /gene="MEST"
                     /gene_synonym="PEG1"
     polyA_site      2592
                     /gene="MEST"
                     /gene_synonym="PEG1"
ORIGIN      
        1 tgccgcggca accagcacac cccggcacct cctctgcggc agctgcgcct cgcaagcgca
       61 gtgccgcagc gcacgccgga gtggctgtag ctgcccggcg cggcgccgcc ctgcgcgggc
      121 tgtgggctgc gggctgcgcc cccgctgctg gccagctctg cacggctgcg ggctctgcgg
      181 cgcccggtgc tctgcaacgc tgcggcgggc ggcatgggat aacgcggcca tggtgcgccg
      241 agatcgcctc cgcaggatga gggagtggtg ggtccaggtg gggctgctgg ccgtgcccct
      301 gcttgctgcg tacctgcaca tcccaccccc tcagctctcc cctgcccttc actcatggaa
      361 gtcttcaggc aagtttttca cttacaaggg actgcgtatc ttctaccaag actctgtggg
      421 tgtggttgga agtccagaga tagttgtgct tttacacggt tttccaacat ccagctacga
      481 ctggtacaag atttgggaag gtctgacctt gaggtttcat cgggtgattg cccttgattt
      541 cttaggcttt ggcttcagtg acaaaccgag accacatcac tattccatat ttgagcaggc
      601 cagcatcgtg gaagcgcttt tgcggcatct ggggctccag aaccgcagga tcaaccttct
      661 ttctcatgac tatggagata ttgttgctca ggagcttctc tacaggtaca agcagaatcg
      721 atctggtcgg cttaccataa agagtctctg tctgtcaaat ggaggtatct ttcctgagac
      781 tcaccgtcca ctccttctcc aaaagctact caaagatgga ggtgtgctgt cacccatcct
      841 cacacgactg atgaacttct ttgtattctc tcgaggtctc accccagtct ttgggccgta
      901 tactcggccc tctgagagtg agctgtggga catgtgggca gggatccgca acaatgacgg
      961 gaacttagtc attgacagtc tcttacagta catcaatcag aggaagaagt tcagaaggcg
     1021 ctgggtggga gctcttgcct ctgtaactat ccccattcat tttatctatg ggccattgga
     1081 tcctgtaaat ccctatccag agtttttgga gctgtacagg aaaacgctgc cgcggtccac
     1141 agtgtcgatt ctggatgacc acattagcca ctatccacag ctagaggatc ccatgggctt
     1201 cttgaatgca tatatgggct tcatcaactc cttctgagct ggaaagagta gcttccctgt
     1261 attacctccc ctactccctt atgtgttgtg tattccactt aggaagaaat gcccaaaaga
     1321 ggtcctggcc atcaaacata attctctcac aaagtccact ttactcaaat tggtgaacag
     1381 tgtataggaa gaagccagca ggagctctga ctaaggttga cataatagtc cacctcccat
     1441 tactttgata tctgatcaaa tgtatagact tggctttgtt ttttgtgcta ttaggaaatt
     1501 ctgatgagca ttactattca ctgatgcaga aagacgttct tttgcataaa agactttttt
     1561 ttaacacttt ggacttctct gaaatattta gaagtgctaa tttctggccc acccccaaca
     1621 ggaattctat agtaaggagg aggagaaggg gggctccttc cctctcctcg aatgacgtta
     1681 tgggcacatg ccttttaaaa gttctttaag caacacagag ctgagtcctc tttgtcatac
     1741 ctttggattt agtgtttcat cagctgtttt tagttataaa cattttgtta aaatagatat
     1801 tggtttaaat gatacagtat tttaggtatg atttaagact atgatttacc tatacattat
     1861 atatatttta taaagatact aaaccagcat acccttactc tgccagagta gtgaagctaa
     1921 ttaaacacat ttggtttctg aataaattga actaaatcca aactatttcc taaaatcaca
     1981 ggacattaag gaccaatagc atctgtgcca gagatgtact gttattagct gggaagacca
     2041 attctaacag caaataacag tctgagactc ctcatacctc agtggttaga agcatgtctc
     2101 tcttgagcta cagtagaggg gaagggattg ttgtgtagtc aagtcaccat gctgaatgta
     2161 cactgattcc tttatgatga ctgcttaact ccccactgcc tgtcccagag aggctttcca
     2221 atgtagctca gtaattcctg ttactttaca gacaggaaag ttccagaaac tttaagaaca
     2281 aactctgaaa gacctatgag caaatggtgc tgaatacttt ttttttaaag ccacatttca
     2341 ttgtcttagt caaagcagga ttattaagtg attatttaaa attcgttttt ttaaattagc
     2401 aacttcaagt ataacaactt tgaaactgga ataagtgttt attttctatt aataaaaatg
     2461 aattgtgaca aaagtggact ctggcttccc ctcccccctc ccccccaccc ctctgggata
     2521 aaaattttcc agcattgcca ggagctttca ggtacacatt aaagaataaa atgaagttaa
     2581 gcagctggag tataggatag tatttgattt tcaagatcac ccaaagctgc actatcgtcc
     2641 caaagc
//
