LOCUS       NM_001424222            1459 bp    mRNA    linear   PRI 13-SEP-2023
DEFINITION  Homo sapiens elongator acetyltransferase complex subunit 6 (ELP6),
            transcript variant 14, mRNA.
ACCESSION   NM_001424222
VERSION     NM_001424222.1
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 1459)
  AUTHORS   Kojic M and Wainwright B.
  TITLE     The Many Faces of Elongator in Neurodevelopment and Disease
  JOURNAL   Front Mol Neurosci 9, 115 (2016)
   PUBMED   27847465
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1459)
  AUTHORS   Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann
            TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby
            A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y,
            Tarasov KV, Dorr M, Muller-Nurasyid M, Lahtinen AM, Nolte IM, Smith
            AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D,
            Lyytikainen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C,
            Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S,
            Kumari M, Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer
            B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K,
            Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR,
            Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane
            PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J,
            Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella
            M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polasek
            O, Wright AF, Griffin M, Daly MJ, Arnar DO, Holm H,
            Thorsteinsdottir U, Denny JC, Roden DM, Zuvich RL, Emilsson V,
            Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP,
            Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A,
            Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R,
            Hoffmann P, Jockel KH, Kalsch H, Nothen MM, den Hoed M, Loos RJ,
            Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H,
            Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten
            PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER,
            Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F,
            Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW,
            Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger
            C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari
            NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP,
            van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors
            JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA,
            Abecasis GR, Lakatta EG, Mulas A, Orru M, Schlessinger D, Uda M,
            Markus MR, Volker U, Snieder H, Spector TD, Arnlov J, Lind L,
            Sundstrom J, Syvanen AC, Kivimaki M, Kahonen M, Mononen N,
            Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides
            AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH,
            Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L,
            Gasparini P, Wilson JF, Rudan I, Franke A, Muhleisen TW,
            Pramstaller PP, Lehtimaki TJ, Paterson AD, Parsa A, Liu Y, van
            Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix
            SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA,
            Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kaab S, Chakravarti A,
            Ackerman MJ, Pfeufer A, de Bakker PI and Newton-Cheh C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for
            calcium signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   3  (bases 1 to 1459)
  AUTHORS   Wagner LA, Wang S, Wayner EA, Christensen C, Perkins SJ, Ward GW,
            Weiss RB, Dunn DM, Redd MJ, Spangrude GJ and Gleich GJ.
  TITLE     Developing and mature human granulocytes express ELP 6 in the
            cytoplasm
  JOURNAL   Hum Antibodies 22 (1-2), 21-29 (2013)
   PUBMED   24284306
  REMARK    GeneRIF: ELP6 is expressed intracellularly in developing and mature
            granulocytes and monocytes but not in lymphocytes and erythrocytes.
REFERENCE   4  (bases 1 to 1459)
  AUTHORS   Close P, Gillard M, Ladang A, Jiang Z, Papuga J, Hawkes N, Nguyen
            L, Chapelle JP, Bouillenne F, Svejstrup J, Fillet M and Chariot A.
  TITLE     DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and
            migration of melanoma cells as subunits of Elongator
  JOURNAL   J Biol Chem 287 (39), 32535-32545 (2012)
   PUBMED   22854966
  REMARK    GeneRIF: data identify DERP6/ELP5 and C3ORF75/ELP6 as key players
            for migration, invasion and tumorigenicity of melanoma cells, as
            integral subunits of Elongator.
REFERENCE   5  (bases 1 to 1459)
  AUTHORS   Bolukbasi E, Vass S, Cobbe N, Nelson B, Simossis V, Dunbar DR and
            Heck MM.
  TITLE     Drosophila poly suggests a novel role for the Elongator complex in
            insulin receptor-target of rapamycin signalling
  JOURNAL   Open Biol 2 (1), 110031 (2012)
   PUBMED   22645656
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099778.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1475905.1,
                                           SRR14038195.1828468.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-176               AC099778.2         158054-158229       c
            177-255             AC099778.2         155665-155743       c
            256-326             AC099778.2         154701-154771       c
            327-433             AC099778.2         150433-150539       c
            434-552             AC099778.2         148847-148965       c
            553-754             AC099778.2         146167-146368       c
            755-901             AC099778.2         142803-142949       c
            902-1459            AC099778.2         140157-140714       c
FEATURES             Location/Qualifiers
     source          1..1459
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1459
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="elongator acetyltransferase complex subunit 6"
                     /db_xref="GeneID:54859"
                     /db_xref="HGNC:HGNC:25976"
                     /db_xref="MIM:615020"
     exon            1..176
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            177..255
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            256..326
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            327..433
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    407..409
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="upstream in-frame stop codon"
     exon            434..552
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     CDS             449..1030
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="isoform 2 is encoded by transcript variant 14;
                     transmembrane protein 103; angiotonin-transactivated
                     protein 1; UPF0405 protein C3orf75; elongator complex
                     protein 6 homolog"
                     /codon_start=1
                     /product="elongator complex protein 6 isoform 2"
                     /protein_id="NP_001411151.1"
                     /db_xref="GeneID:54859"
                     /db_xref="HGNC:HGNC:25976"
                     /db_xref="MIM:615020"
                     /translation="

MARERGQLVFLEGLKSAVDVVFQAQKEPHPLQFLREANAGNLKPLFEFVREALKPVDSGEARWTYPVLLVDDLSVLLSLGMGAVAVLDFIHYCRATVCWELKGNMVVLVHDSGDAEDEENDILLNGLSHQSHLILRAEGLATGFCRDVHGQLRILWRRPSQPAVHRDQSFTYQYKIQDKSVSFFAKGMSPAVL"

     exon            553..754
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            755..901
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1459
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1436..1441
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="hexamer: AATAAA"
     polyA_site      1459
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="major polyA site"
ORIGIN      

ggcattgcgcatgcgcgcttccttgcgcgagccgggctgtcgggtgtgttttgctctccagcctccgtcgtctctgcagcactccgggttctcctccagagcgctagtcccaggagctcggaatgttcgtggaacttaataacctgcttaacaccacccccgacagggcggagcaggggaaactgactctactctgtgatgccaagacagatgggagtttccttgtacaccactttctctccttctatctcaaagctaattgtaaagtctgctttgtggcactcatccagtccttcagccactacagtatcgtgggacagaagctgccggccaacgcttagggaaaatagaaaagaacctacgtgactatcggggcaggtttcctgatatcggcaggtggatcacttgaggccaggagttcgagaccagcctgggtgtcagcctgaccatggcgcgggagcgtgggcagcttgtgttccttgagggactcaagtctgcagtggacgtcgtcttccaggctcaaaaggagccacaccccctgcagtttctcagggaggctaatgctgggaacttgaaaccattgtttgagtttgtacgggaggccctgaagccagtagacagtggagaggctcggtggacgtacccggtgctgttggtggacgacctcagtgtgctcctgagcctgggcatgggggcggtggctgtgctagacttcattcactactgcagagccaccgtgtgctgggaactaaagggaaacatggtggtccttgtgcacgacagtggagatgcggaggatgaggagaatgacatcctgctgaatggcctcagtcatcagagccatctgatactgcgggctgagggcctggccactggcttctgcagggatgtgcacgggcagctgaggatcctgtggaggagaccatcgcagcccgcagtccaccgggatcagagcttcacttaccagtataagatacaggacaaaagcgtgtccttttttgccaaaggaatgtctcctgctgttctgtgacctgatttcggagcagctgaagctacataggactgtttttggacgtggaagatagagcaacatagcaagaatgggtctttctcctctgtagtaatatttcaggctggaccggcgactccactgtgaccagagggttgagtgctgcagtgatggcatgccttggctgccctgggccctgttcagaaaacacaagggaccacaatcctgcctttgctgagagagaggctggatgctagacccaagtgaaaggggtcctttggagcctttgtttaaatatgccttagccccagctgcccatttttggttgacaagcctttcagagccagagtgggtatagatgtgccagccaggagatggcaccggatggcaggtgtgcaaggtgacaactaggataatcatggctggaataaagtaagtttccacactgga

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