LOCUS       NM_003797               2088 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens embryonic ectoderm development (EED), transcript
            variant 1, mRNA.
ACCESSION   NM_003797
VERSION     NM_003797.5
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 2088)
  AUTHORS   Goel,H., O'Donnell,S. and Edwards,M.
  TITLE     EED related overgrowth: First report of multiple members in a
            single family
  JOURNAL   Am J Med Genet A 194 (2), 374-382 (2024)
   PUBMED   37840385
  REMARK    GeneRIF: EED related overgrowth: First report of multiple members
            in a single family.
REFERENCE   2  (bases 1 to 2088)
  AUTHORS   Shaliman,D., Takenobu,H., Sugino,R.P., Ohira,M. and Kamijo,T.
  TITLE     The PRC2 molecule EED is a target of epigenetic therapy for
            neuroblastoma
  JOURNAL   Eur J Cell Biol 101 (3), 151238 (2022)
   PUBMED   35636260
  REMARK    GeneRIF: The PRC2 molecule EED is a target of epigenetic therapy
            for neuroblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2088)
  AUTHORS   Alerasool,N., Leng,H., Lin,Z.Y., Gingras,A.C. and Taipale,M.
  TITLE     Identification and functional characterization of transcriptional
            activators in human cells
  JOURNAL   Mol Cell 82 (3), 677-695 (2022)
   PUBMED   35016035
REFERENCE   4  (bases 1 to 2088)
  AUTHORS   Kim,M., Park,J., Bouhaddou,M., Kim,K., Rojc,A., Modak,M.,
            Soucheray,M., McGregor,M.J., O'Leary,P., Wolf,D., Stevenson,E.,
            Foo,T.K., Mitchell,D., Herrington,K.A., Munoz,D.P., Tutuncuoglu,B.,
            Chen,K.H., Zheng,F., Kreisberg,J.F., Diolaiti,M.E., Gordan,J.D.,
            Coppe,J.P., Swaney,D.L., Xia,B., van 't Veer,L., Ashworth,A.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   5  (bases 1 to 2088)
  AUTHORS   Cook,N., Chen,J., Zhou,J. and Wu,D.
  TITLE     Embryonic Ectoderm Development (EED) as a Novel Target for Cancer
            Treatment
  JOURNAL   Curr Top Med Chem 21 (31), 2771-2777 (2021)
   PUBMED   34544341
  REMARK    GeneRIF: Embryonic Ectoderm Development (EED) as a Novel Target for
            Cancer Treatment.
            Review article
REFERENCE   6  (bases 1 to 2088)
  AUTHORS   Rietzler,M., Bittner,M., Kolanus,W., Schuster,A. and Holzmann,B.
  TITLE     The human WD repeat protein WAIT-1 specifically interacts with the
            cytoplasmic tails of beta7-integrins
  JOURNAL   J Biol Chem 273 (42), 27459-27466 (1998)
   PUBMED   9765275
REFERENCE   7  (bases 1 to 2088)
  AUTHORS   Denisenko,O., Shnyreva,M., Suzuki,H. and Bomsztyk,K.
  TITLE     Point mutations in the WD40 domain of Eed block its interaction
            with Ezh2
  JOURNAL   Mol Cell Biol 18 (10), 5634-5642 (1998)
   PUBMED   9742080
REFERENCE   8  (bases 1 to 2088)
  AUTHORS   Sewalt,R.G., van der Vlag,J., Gunster,M.J., Hamer,K.M., den
            Blaauwen,J.L., Satijn,D.P., Hendrix,T., van Driel,R. and Otte,A.P.
  TITLE     Characterization of interactions between the mammalian
            polycomb-group proteins Enx1/EZH2 and EED suggests the existence of
            different mammalian polycomb-group protein complexes
  JOURNAL   Mol Cell Biol 18 (6), 3586-3595 (1998)
   PUBMED   9584199
REFERENCE   9  (bases 1 to 2088)
  AUTHORS   van Lohuizen,M., Tijms,M., Voncken,J.W., Schumacher,A., Magnuson,T.
            and Wientjens,E.
  TITLE     Interaction of mouse polycomb-group (Pc-G) proteins Enx1 and Enx2
            with Eed: indication for separate Pc-G complexes
  JOURNAL   Mol Cell Biol 18 (6), 3572-3579 (1998)
   PUBMED   9584197
REFERENCE   10 (bases 1 to 2088)
  AUTHORS   Sequerra Amram Cohen,A. and Gibson,W.T.
  TITLE     EED-Related Overgrowth
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30973693
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB086430.1, AL546955.3,
            AK292120.1, AA811323.1 and AW263732.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003797.4.
            
            Summary: This gene encodes a member of the Polycomb-group (PcG)
            family. PcG family members form multimeric protein complexes, which
            are involved in maintaining the transcriptional repressive state of
            genes over successive cell generations. This protein interacts with
            enhancer of zeste 2, the cytoplasmic tail of integrin beta7,
            immunodeficiency virus type 1 (HIV-1) MA protein, and histone
            deacetylase proteins. This protein mediates repression of gene
            activity through histone deacetylation, and may act as a specific
            regulator of integrin function. Two transcript variants encoding
            distinct isoforms have been identified for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) lacks an in-frame exon in the
            3' coding region compared to variant 3. It encodes isoform a, which
            is shorter than isoform c.
            
            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 :: SRR3476690.878030.1, AK292120.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263360.11/ ENSP00000263360.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DB086430.1         207-217             c
            12-22               AL546955.3         11-21
            23-1725             AK292120.1         1-1703
            1726-2021           AA811323.1         11-306              c
            2022-2088           AW263732.1         20-86               c
FEATURES             Location/Qualifiers
     source          1..2088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2"
     gene            1..2088
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /note="embryonic ectoderm development"
                     /db_xref="GeneID:8726"
                     /db_xref="HGNC:HGNC:3188"
                     /db_xref="MIM:605984"
     exon            1..591
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             478..1803
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /note="isoform a is encoded by transcript variant 1;
                     polycomb protein EED; WD protein associating with integrin
                     cytoplasmic tails 1; embryonic ectoderm development
                     protein"
                     /codon_start=1
                     /product="polycomb protein EED isoform a"
                     /protein_id="NP_003788.2"
                     /db_xref="CCDS:CCDS8273.1"
                     /db_xref="GeneID:8726"
                     /db_xref="HGNC:HGNC:3188"
                     /db_xref="MIM:605984"
                     /translation="MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSI
                     ESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFN
                     WHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSH
                     PLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLW
                     NIQTDTLVAIFGGVEGHRDEVLSADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKE
                     SYDYNPNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPG
                     KMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLE
                     VEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR"
     exon            592..744
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            745..837
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            838..903
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1029
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1111
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1203
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1337
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1443
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1602
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..1676
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..2088
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1996..2001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /note="hexamer: AATAAA"
     polyA_site      2017
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /note="major polyA site"
     regulatory      2064..2069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
                     /note="hexamer: AATAAA"
     polyA_site      2088
                     /gene="EED"
                     /gene_synonym="COGIS; HEED; WAIT1"
ORIGIN      
        1 attccacaga ctttcgctcc ctagcagcgg gtcggagatc gaaggaacgg gccaattgcg
       61 gctgaaacgt ctttggaagg aggaaggggg tgagggagca tccctttgag tttcgcctct
      121 tctcgaggcg gtggtgggaa gggagacata cttaatactg ccctcttaat ccaacggacc
      181 ttacatcgtg tagactgccg ggagggcggc gggaaaaggg caagacggga gttggggaag
      241 ggaaggagcc aggaagccgc gcgggagggc gcgcgcgcgc gccccttttt cagcagtgtg
      301 gcggggtcgc acgcacgccc gcctcggcgg ctgggcgcga tttgcgacag tggggggggc
      361 ggtggaggtg gcggcggcag cggcaacttt gcggcaagct cgggccgggc ttgcttgacg
      421 gcggtgtggc ggaggccccg ccccaggcgg caggaacctg gagggaggcg gaggaatatg
      481 tccgagaggg aagtgtcgac tgcgccggcg ggaacagaca tgcctgcggc caagaagcag
      541 aagctgagca gtgacgagaa cagcaatcca gacctctctg gagacgagaa tgatgacgct
      601 gtcagtatag aaagtggtac aaacactgaa cgccctgata cacctacaaa cacgccaaat
      661 gcacctggaa ggaaaagttg gggaaaggga aaatggaagt caaagaaatg caaatattct
      721 ttcaaatgtg taaatagtct caaggaagat cataaccaac cattgtttgg agttcagttt
      781 aactggcaca gtaaagaagg agatccatta gtgtttgcaa ctgtaggaag caacagagtt
      841 accttgtatg aatgtcattc acaaggagaa atccggttgt tgcaatctta cgtggatgct
      901 gatgctgatg aaaactttta cacttgtgca tggacctatg atagcaatac gagccatcct
      961 ctgctggctg tagctggatc tagaggcata attaggataa taaatcctat aacaatgcag
     1021 tgtataaagc actatgttgg ccatggaaat gctatcaatg agctgaaatt ccatccaaga
     1081 gatccaaatc ttctcctgtc agtaagtaaa gatcatgctt tacgattatg gaatatccag
     1141 acggacactc tggtggcaat atttggaggc gtagaagggc acagagatga agttctaagt
     1201 gctgattatg atcttttggg tgaaaaaata atgtcctgtg gtatggatca ttctcttaaa
     1261 ctttggagga tcaattcaaa gagaatgatg aatgcaatta aggaatctta tgattataat
     1321 ccaaataaaa ctaacaggcc atttatttct cagaaaatcc attttcctga tttttctacc
     1381 agagacatac ataggaatta tgttgattgt gtgcgatggt taggcgattt gatactttct
     1441 aagtcttgtg aaaatgccat tgtgtgctgg aaacctggca agatggaaga tgatatagat
     1501 aaaattaaac ccagtgaatc taatgtgact attcttgggc gatttgatta cagccagtgt
     1561 gacatttggt acatgaggtt ttctatggat ttctggcaaa agatgcttgc attgggcaat
     1621 caagttggca aactttatgt ttgggattta gaagtagaag atcctcataa agccaaatgt
     1681 acaacactga ctcatcataa atgtggtgct gctattcgac aaaccagttt tagcagggat
     1741 agcagcattc ttatagctgt ttgtgatgat gccagtattt ggcgctggga tcgacttcga
     1801 taaaatactt ttgcctaatc aaaattagag tgtgtttgtt gtctgtgtaa aatagaatta
     1861 atgtatcttg ctagtaaggg cacgtagagc atttagagtt gtctttcagc attcaatcag
     1921 gctgagctga atgtagtgat gtttacattg tttacattct ttgtactgtc ttcctgctca
     1981 gactctactg cttttaataa aaatttattt ttgtaaagct gtgtgtttag ttactttcat
     2041 tgtggtgaaa aaaagttaaa agtaataaaa ttatgcctta tcttttta
//
