LOCUS       NM_006532               3970 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens elongation factor for RNA polymerase II (ELL), mRNA.
ACCESSION   NM_006532
VERSION     NM_006532.4
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 3970)
  AUTHORS   Zha,J., Zhong,M., Pan,G., Chen,Q., Jiang,Y., Lai,Q., Tan,J.,
            Zhou,H., Wu,H. and Xu,B.
  TITLE     Stratification and therapeutic potential of ELL in cytogenetic
            normal acute myeloid leukemia
  JOURNAL   Gene 856, 147110 (2023)
   PUBMED   36543308
  REMARK    GeneRIF: Stratification and therapeutic potential of ELL in
            cytogenetic normal acute myeloid leukemia.
REFERENCE   2  (bases 1 to 3970)
  AUTHORS   Pal,S., Yadav,D. and Biswas,D.
  TITLE     ATM-mediated ELL phosphorylation enhances its self-association
            through increased EAF1 interaction and inhibits global
            transcription during genotoxic stress
  JOURNAL   Nucleic Acids Res 50 (19), 10995-11012 (2022)
   PUBMED   36305813
  REMARK    GeneRIF: ATM-mediated ELL phosphorylation enhances its
            self-association through increased EAF1 interaction and inhibits
            global transcription during genotoxic stress.
            Erratum:[Nucleic Acids Res. 2023 Jul 7;51(12):6507. doi:
            10.1093/nar/gkad454.. PMID: 37194690]
REFERENCE   3  (bases 1 to 3970)
  AUTHORS   Li,J., Bansal,V., Tiwari,M., Chen,Y. and Sen,G.L.
  TITLE     ELL Facilitates RNA Polymerase II-Mediated Transcription of Human
            Epidermal Proliferation Genes
  JOURNAL   J Invest Dermatol 141 (5), 1352-1356 (2021)
   PUBMED   33157094
  REMARK    GeneRIF: ELL Facilitates RNA Polymerase II-Mediated Transcription
            of Human Epidermal Proliferation Genes.
REFERENCE   4  (bases 1 to 3970)
  AUTHORS   Basu,S., Barad,M., Yadav,D., Nandy,A., Mukherjee,B., Sarkar,J.,
            Chakrabarti,P., Mukhopadhyay,S. and Biswas,D.
  TITLE     DBC1, p300, HDAC3, and Siah1 coordinately regulate ELL stability
            and function for expression of its target genes
  JOURNAL   Proc Natl Acad Sci U S A 117 (12), 6509-6520 (2020)
   PUBMED   32152128
  REMARK    GeneRIF: E1A-associated p300 protein -mediated site-specific
            acetylation increases, whereas histone deacetylase 3-mediated
            deacetylation decreases, transcriptional elongation factor ELL
            stability through polyubiquitylation by the E3 ubiquitin ligase
            Siah1. Knockdown of human cell cycle and apoptosis regulator 2
            reduces ELL levels and expression of a significant number of genes,
            including those involved in glucose metabolism.
REFERENCE   5  (bases 1 to 3970)
  AUTHORS   Anwar,D., Takahashi,H., Watanabe,M., Suzuki,M., Fukuda,S. and
            Hatakeyama,S.
  TITLE     p53 represses the transcription of snRNA genes by preventing the
            formation of little elongation complex
  JOURNAL   Biochim Biophys Acta 1859 (8), 975-982 (2016)
   PUBMED   27268141
  REMARK    GeneRIF: The results indicate that p53 interferes with the
            interaction between ELL/EAF and ICE1 and represses transcription of
            small nuclear RNA genes by Pol II.
REFERENCE   6  (bases 1 to 3970)
  AUTHORS   Shilatifard,A.
  TITLE     Identification and purification of the Holo-ELL complex. Evidence
            for the presence of ELL-associated proteins that suppress the
            transcriptional inhibitory activity of ELL
  JOURNAL   J Biol Chem 273 (18), 11212-11217 (1998)
   PUBMED   9556611
REFERENCE   7  (bases 1 to 3970)
  AUTHORS   Shilatifard,A., Haque,D., Conaway,R.C. and Conaway,J.W.
  TITLE     Structure and function of RNA polymerase II elongation factor ELL.
            Identification of two overlapping ELL functional domains that
            govern its interaction with polymerase and the ternary elongation
            complex
  JOURNAL   J Biol Chem 272 (35), 22355-22363 (1997)
   PUBMED   9268387
REFERENCE   8  (bases 1 to 3970)
  AUTHORS   Shilatifard,A., Lane,W.S., Jackson,K.W., Conaway,R.C. and
            Conaway,J.W.
  TITLE     An RNA polymerase II elongation factor encoded by the human ELL
            gene
  JOURNAL   Science 271 (5257), 1873-1876 (1996)
   PUBMED   8596958
REFERENCE   9  (bases 1 to 3970)
  AUTHORS   Thirman,M.J., Levitan,D.A., Kobayashi,H., Simon,M.C. and
            Rowley,J.D.
  TITLE     Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1)
            in acute myeloid leukemia
  JOURNAL   Proc Natl Acad Sci U S A 91 (25), 12110-12114 (1994)
   PUBMED   7991593
REFERENCE   10 (bases 1 to 3970)
  AUTHORS   Iwabuchi,K., Bartel,P.L., Li,B., Marraccino,R. and Fields,S.
  TITLE     Two cellular proteins that bind to wild-type but not mutant p53
  JOURNAL   Proc Natl Acad Sci U S A 91 (13), 6098-6102 (1994)
   PUBMED   8016121
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI458899.1, U16282.1 and BC033673.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006532.3.
            
            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 :: SRR1660807.64888.1,
                                           SRR1803617.73868.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262809.9/ ENSP00000262809.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BI458899.1         62-64
            4-2808              U16282.1           1-2805
            2809-3970           BC033673.1         427-1588
FEATURES             Location/Qualifiers
     source          1..3970
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..3970
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /note="elongation factor for RNA polymerase II"
                     /db_xref="GeneID:8178"
                     /db_xref="HGNC:HGNC:23114"
                     /db_xref="MIM:600284"
     exon            1..150
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..1881
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /note="ELL gene (11-19 lysine-rich leukemia gene);
                     eleven-nineteen lysine-rich leukemia protein; protein
                     phosphatase 1, regulatory subunit 68; elongation factor
                     RNA polymerase II; KMT2A/ELL fusion protein; ELL/KMT2A
                     fusion protein"
                     /codon_start=1
                     /product="RNA polymerase II elongation factor ELL"
                     /protein_id="NP_006523.1"
                     /db_xref="CCDS:CCDS12380.1"
                     /db_xref="GeneID:8178"
                     /db_xref="HGNC:HGNC:23114"
                     /db_xref="MIM:600284"
                     /translation="MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRAR
                     QDSVSLRPSIRFQGSQGHISIPQPDCPAEARTFSFYLSNIGRDNPQGSFDCIQQYVSS
                     HGEVHLDCLGSIQDKITVCATDDSYQKARQSMAQAEEETRSRSAIVIKAGGRYLGKKV
                     QFRKPAPGATDAVPSRKRATPINLASAIRKSGASAVSGGSGVSQRPFRDRVLHLLALR
                     PYRKAELLLRLQKDGLTQADKDALDGLLQQVANMSAKDGTCTLQDCMYKDVQKDWPGY
                     SEGDQQLLKRVLVRKLCQPQSTGSLLGDPAASSPPGERGRSASPPQKRLQPPDFIDPL
                     ANKKPRISHFTQRAQPAVNGKLGVPNGREALLPTPGPPASTDTLSSSTHLPPRLEPPR
                     AHDPLADVSNDLGHSGRDCEHGEAAAPAPTVRLGLPLLTDCAQPSRPHGSPSRSKPKK
                     KSKKHKDKERAAEDKPRAQLPDCAPATHATPGAPADTPGLNGTCSVSSVPTSTSETPD
                     YLLKYAAISSSEQRQSYKNDFNAEYSEYRDLHARIERITRRFTQLDAQLRQLSQGSEE
                     YETTRGQILQEYRKIKKTNTNYSQEKHRCEYLHSKLAHIKRLIAEYDQRQLQAWP"
     exon            151..198
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            199..320
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            321..484
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            485..759
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            760..884
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            885..981
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1480
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1547
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1719
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            1720..1764
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     exon            1765..3970
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3950..3955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /note="hexamer: AATAAA"
     polyA_site      3970
                     /gene="ELL"
                     /gene_synonym="C19orf17; ELL1; MEN; PPP1R68"
                     /note="major polyA site"
ORIGIN      
        1 agagatggtc gcaagatggc ggcgctgaag gaggatagga gctacgggct gtcgtgcggg
       61 cgggttagcg acggcagcaa ggtgtcggtg ttccacgtga agctcaccga cagtgccctg
      121 agggccttcg agagctaccg cgccagacag gattctgttt cactgaggcc atctatccga
      181 tttcaaggaa gccaagggca catctccatc ccccagcctg actgccccgc agaggcgcgg
      241 acgttctcct tctacctctc caacatcggc cgcgacaacc cccagggcag cttcgactgc
      301 atccagcagt atgtctccag tcatggggaa gttcacctgg actgcctggg cagcatacag
      361 gacaagatca cggtgtgtgc caccgacgac tcctaccaga aggcgcggca gagcatggcc
      421 caggcggagg aggagacgcg gagccgaagt gccattgtca tcaaggctgg aggccgctac
      481 ctgggcaaga aggttcagtt tcggaaacca gccccaggtg caacagacgc ggtgccctcc
      541 cggaagcggg caacccccat caacttggcg agtgccatca ggaagagtgg tgccagtgcc
      601 gtgagtgggg gcagcggggt gtcccagagg cccttccgtg accgagtgct gcacctcctg
      661 gcactacggc cctaccgcaa ggctgagctg ctgctgcgac tgcagaagga cggcctgacg
      721 caggcggaca aggacgcgct ggatggcctc ctccagcagg tggccaacat gagtgctaag
      781 gacggcacgt gtacactgca ggactgcatg tacaaggatg tgcagaagga ctggcctggc
      841 tactcggagg gggaccagca gctgctgaag cgggtgctcg tccggaagct gtgccagcca
      901 cagagcactg gcagcctcct tggagaccct gctgcctcca gccccccagg cgagcgtggg
      961 cgctcggcct cgcccccaca gaagcggctg cagcctcctg atttcatcga ccccctagcc
     1021 aacaagaaac cccggatatc gcacttcact cagagagctc agcctgccgt caacgggaag
     1081 ctgggcgtgc ccaatggccg tgaggccttg ctgcccaccc cgggcccacc agccagcacg
     1141 gacaccctca gctccagcac tcacctgccc ccgcggctgg agcccccgag ggcccacgac
     1201 cccctggccg atgtcagcaa tgacctgggc cacagcggcc gagactgtga gcacggagag
     1261 gcggctgccc cagcccccac tgtgcgcctc ggcctgcccc tgctgacgga ctgtgcccag
     1321 cccagcaggc cacacggcag cccctcgcgc agcaagccca agaagaagtc caagaagcac
     1381 aaagacaagg agagggcggc tgaggacaag ccccgggccc agcttccaga ctgtgcacct
     1441 gccacccatg ccacccccgg agccccagca gacaccccag gtttaaacgg aacctgcagc
     1501 gtttccagtg ttcccacgtc cacgtcggag acgcctgact acttgctgaa gtacgcagcc
     1561 atctcctctt cggagcagcg ccagagctac aagaacgact tcaatgccga gtacagcgag
     1621 taccgcgacc tgcacgcccg cattgagcgc atcacgcggc ggttcaccca gctcgacgcc
     1681 cagctccggc agctctccca gggctccgag gagtatgaga ctactcgagg gcagattttg
     1741 caggaatatc gaaaaatcaa aaagaccaac accaactaca gccaggagaa gcaccgctgc
     1801 gagtacctgc acagcaagct ggcccacatc aagaggctca tcgccgagta cgaccagcgg
     1861 cagctgcagg cttggcccta gccgccctcc ccgatggcgg ggatctggga gggtcggggg
     1921 agcaaaaggc ggtgagagag gatttattta aaaaaataaa cccgaggaag atgctcatct
     1981 gagccagcac cgccggcttt cagggcagcc cctgcagacg tctggccctg gcgggtggct
     2041 gcaagcccac ctcggccctc cctgcgcttc ctgagcagtc cctgcttatg atgggctccc
     2101 caggaagccc actgcctcct ccctggctgc agcctccggg gttcagcctc ctgtctcgcc
     2161 agaagactcc taggcccttg gggtggcgcg cctgcctttt ctagttttat acaaagacag
     2221 ccacttttag ctactgctaa tgagacttga gtctattttt gtacaaaaga gaagcaaaat
     2281 cttttttcta aacctgtgcc tccctctcct cggacaccca gggtctagcc gctgccctgg
     2341 gtcctgcctg cagtattaca gaggtcgtcg aaaggtgcag ctgcgttctg agggcgtggg
     2401 gaatgggcag gtggcctctg ctggtctctg gctctacgtt taggcacccc tttccccagc
     2461 ctctcctcct tgggcagggt ctctgctcca gcaagcaaac agggtggccc aggtggctat
     2521 tttgagaact ccagctggtg cccccagaca gctgctcaga gccaaggggg cagagggctt
     2581 tcagcgcccc caggcctgcc ctgctatttc aggccctcag ctgtcggggg ccactgtgtt
     2641 tctgtgctcc aagttgagac tcggccgcag cggcgtcaga cttttctttg cgatgtcctc
     2701 ggtttcccat ttgttgctgc tgctgctcat tccacactgt tgagaccttg tggtctcgat
     2761 gctgctggcc tccctccgtc cctctgtcca cttgtgggtc ctggggtcgt cttagcagag
     2821 ccaccgccaa ggtttgcact cagggagggg ctgatggagg gctgggcgcc atggggtcag
     2881 ggaggcccca gggacccatg ggcagagctg gggagccagg aggatgggtc tgcctgctct
     2941 gggggtgcag gctctgcaga caccccaatt gctgctctgt tgctgtgcct agtctagtgt
     3001 cccccaaagc atcggggggc cacgcaagtg tgggtgtgtg agtgtgcgta tgtggggacc
     3061 ccccagggca tggtggggtc tgaggcgtgt gttcccattt agggctgaat gaagccatga
     3121 cttggaaagg tggtgggggg tggatggcgg ctgtgactca gggcccaggg atcacatggg
     3181 ggtcactgct gccatcagca gtcaggcagg gagaacagaa atgcaaaaat acagatgtct
     3241 atttttctaa actggggggt ggaggggtgc ctcctgacag cttccaaaga gctgactgtg
     3301 gagggcccac agtgtatccc acccctgccc gagagtctct ctcctttggg acccccgggt
     3361 tcccagagct ccgaggaaac tgatccttca tgtttcaata gctgttgttg tttttctctt
     3421 tgggccgggc cgggccgggg aagggccgag caggctccag gaggcctcca gagtcagctg
     3481 gaccttgctg tgtcgcccgc aggcagccct gcagacaccg gtgaggtggg atgatttcag
     3541 gaggtcccag cccgggactg cccgcccctc tgccctggga accagtccaa ggggctgtca
     3601 gttgaatttg cctttttgtt gttgttgttg tttttgttgt ttatttgttc tccttttaag
     3661 gaattatgaa gctaagaaaa gttttgtgtt ttgggggttg gtggacaaag ttctagctga
     3721 ttaaatatgg tctaacttat tgatactatt tttttttctt ttaatgttgt actgtggaga
     3781 aaaactattt tgagccatgg ggttggtgtt tacaagaact ttccactttt gccaaaatgt
     3841 tacaattgaa aggcatctat ctgcgtcttc agtttcctga tattttctta aaagatctag
     3901 tgtccttttt gtacactaaa caggtgaatg ctgacttttt tcattctcca ataaatttca
     3961 ctgaactgaa
//
