2024-05-06 11:04:55, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001424220 1268 bp mRNA linear PRI 13-SEP-2023 DEFINITION Homo sapiens elongator acetyltransferase complex subunit 6 (ELP6), transcript variant 13, mRNA. ACCESSION NM_001424220 XM_047448393 XM_054346997 VERSION NM_001424220.1 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 1268) 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 1268) 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 1268) 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 1268) 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 1268) 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. On or before Sep 13, 2023 this sequence version replaced XM_047448393.1, XM_054346997.1. ##Evidence-Data-START## Transcript exon combination :: SRR18074968.605008.1, SRR18074967.1488550.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682 [ECO:0006172] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-92 AC099778.2 157838-157929 c 93-171 AC099778.2 155665-155743 c 172-242 AC099778.2 154701-154771 c 243-361 AC099778.2 148847-148965 c 362-563 AC099778.2 146167-146368 c 564-710 AC099778.2 142803-142949 c 711-1268 AC099778.2 140157-140714 c FEATURES Location/Qualifiers source 1..1268 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p21.31" gene 1..1268 /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..92 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /inference="alignment:Splign:2.1.0" exon 93..171 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /inference="alignment:Splign:2.1.0" exon 172..242 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /inference="alignment:Splign:2.1.0" exon 243..361 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /inference="alignment:Splign:2.1.0" CDS 258..839 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /note="isoform 2 is encoded by transcript variant 13; 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_001411149.1" /db_xref="GeneID:54859" /db_xref="HGNC:HGNC:25976" /db_xref="MIM:615020" /translation="
MARERGQLVFLEGLKSAVDVVFQAQKEPHPLQFLREANAGNLKPLFEFVREALKPVDSGEARWTYPVLLVDDLSVLLSLGMGAVAVLDFIHYCRATVCWELKGNMVVLVHDSGDAEDEENDILLNGLSHQSHLILRAEGLATGFCRDVHGQLRILWRRPSQPAVHRDQSFTYQYKIQDKSVSFFAKGMSPAVL"
exon 362..563 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /inference="alignment:Splign:2.1.0" exon 564..710 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /inference="alignment:Splign:2.1.0" exon 711..1268 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /inference="alignment:Splign:2.1.0" regulatory 1245..1250 /regulatory_class="polyA_signal_sequence" /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /note="hexamer: AATAAA" polyA_site 1268 /gene="ELP6" /gene_synonym="C3orf75; TMEM103" /note="major polyA site" ORIGIN
gtagtccgcagaggatcgacccggggattggactggaggcttgggcccgccgaaagtgggcttctgggccatctcgcatattctcaacggctgggaaactgactctactctgtgatgccaagacagatgggagtttccttgtacaccactttctctccttctatctcaaagctaattgtaaagtctgctttgtggcactcatccagtccttcagccactacagtatcgtgggacagaagctgggtgtcagcctgaccatggcgcgggagcgtgggcagcttgtgttccttgagggactcaagtctgcagtggacgtcgtcttccaggctcaaaaggagccacaccccctgcagtttctcagggaggctaatgctgggaacttgaaaccattgtttgagtttgtacgggaggccctgaagccagtagacagtggagaggctcggtggacgtacccggtgctgttggtggacgacctcagtgtgctcctgagcctgggcatgggggcggtggctgtgctagacttcattcactactgcagagccaccgtgtgctgggaactaaagggaaacatggtggtccttgtgcacgacagtggagatgcggaggatgaggagaatgacatcctgctgaatggcctcagtcatcagagccatctgatactgcgggctgagggcctggccactggcttctgcagggatgtgcacgggcagctgaggatcctgtggaggagaccatcgcagcccgcagtccaccgggatcagagcttcacttaccagtataagatacaggacaaaagcgtgtccttttttgccaaaggaatgtctcctgctgttctgtgacctgatttcggagcagctgaagctacataggactgtttttggacgtggaagatagagcaacatagcaagaatgggtctttctcctctgtagtaatatttcaggctggaccggcgactccactgtgaccagagggttgagtgctgcagtgatggcatgccttggctgccctgggccctgttcagaaaacacaagggaccacaatcctgcctttgctgagagagaggctggatgctagacccaagtgaaaggggtcctttggagcctttgtttaaatatgccttagccccagctgcccatttttggttgacaagcctttcagagccagagtgggtatagatgtgccagccaggagatggcaccggatggcaggtgtgcaaggtgacaactaggataatcatggctggaataaagtaagtttccacactgga
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Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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