LOCUS       NM_001031703            1352 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens elongator acetyltransferase complex subunit 6 (ELP6),
            transcript variant 1, mRNA.
ACCESSION   NM_001031703 NM_001031704
VERSION     NM_001031703.3
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 1352)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1352)
  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   3  (bases 1 to 1352)
  AUTHORS   Arking,D.E., Pulit,S.L., Crotti,L., van der Harst,P., Munroe,P.B.,
            Koopmann,T.T., Sotoodehnia,N., Rossin,E.J., Morley,M., Wang,X.,
            Johnson,A.D., Lundby,A., Gudbjartsson,D.F., Noseworthy,P.A.,
            Eijgelsheim,M., Bradford,Y., Tarasov,K.V., Dorr,M.,
            Muller-Nurasyid,M., Lahtinen,A.M., Nolte,I.M., Smith,A.V.,
            Bis,J.C., Isaacs,A., Newhouse,S.J., Evans,D.S., Post,W.S.,
            Waggott,D., Lyytikainen,L.P., Hicks,A.A., Eisele,L., Ellinghaus,D.,
            Hayward,C., Navarro,P., Ulivi,S., Tanaka,T., Tester,D.J.,
            Chatel,S., Gustafsson,S., Kumari,M., Morris,R.W., Naluai,A.T.,
            Padmanabhan,S., Kluttig,A., Strohmer,B., Panayiotou,A.G.,
            Torres,M., Knoflach,M., Hubacek,J.A., Slowikowski,K.,
            Raychaudhuri,S., Kumar,R.D., Harris,T.B., Launer,L.J.,
            Shuldiner,A.R., Alonso,A., Bader,J.S., Ehret,G., Huang,H.,
            Kao,W.H., Strait,J.B., Macfarlane,P.W., Brown,M., Caulfield,M.J.,
            Samani,N.J., Kronenberg,F., Willeit,J., Smith,J.G., Greiser,K.H.,
            Meyer Zu Schwabedissen,H., Werdan,K., Carella,M., Zelante,L.,
            Heckbert,S.R., Psaty,B.M., Rotter,J.I., Kolcic,I., Polasek,O.,
            Wright,A.F., Griffin,M., Daly,M.J., Arnar,D.O., Holm,H.,
            Thorsteinsdottir,U., Denny,J.C., Roden,D.M., Zuvich,R.L.,
            Emilsson,V., Plump,A.S., Larson,M.G., O'Donnell,C.J., Yin,X.,
            Bobbo,M., D'Adamo,A.P., Iorio,A., Sinagra,G., Carracedo,A.,
            Cummings,S.R., Nalls,M.A., Jula,A., Kontula,K.K., Marjamaa,A.,
            Oikarinen,L., Perola,M., Porthan,K., Erbel,R., Hoffmann,P.,
            Jockel,K.H., Kalsch,H., Nothen,M.M., den Hoed,M., Loos,R.J.,
            Thelle,D.S., Gieger,C., Meitinger,T., Perz,S., Peters,A.,
            Prucha,H., Sinner,M.F., Waldenberger,M., de Boer,R.A., Franke,L.,
            van der Vleuten,P.A., Beckmann,B.M., Martens,E., Bardai,A.,
            Hofman,N., Wilde,A.A., Behr,E.R., Dalageorgou,C., Giudicessi,J.R.,
            Medeiros-Domingo,A., Barc,J., Kyndt,F., Probst,V., Ghidoni,A.,
            Insolia,R., Hamilton,R.M., Scherer,S.W., Brandimarto,J.,
            Margulies,K., Moravec,C.E., del Greco,M. F, Fuchsberger,C.,
            O'Connell,J.R., Lee,W.K., Watt,G.C., Campbell,H., Wild,S.H., El
            Mokhtari,N.E., Frey,N., Asselbergs,F.W., Mateo Leach,I., Navis,G.,
            van den Berg,M.P., van Veldhuisen,D.J., Kellis,M., Krijthe,B.P.,
            Franco,O.H., Hofman,A., Kors,J.A., Uitterlinden,A.G.,
            Witteman,J.C., Kedenko,L., Lamina,C., Oostra,B.A., Abecasis,G.R.,
            Lakatta,E.G., Mulas,A., Orru,M., Schlessinger,D., Uda,M.,
            Markus,M.R., Volker,U., Snieder,H., Spector,T.D., Arnlov,J.,
            Lind,L., Sundstrom,J., Syvanen,A.C., Kivimaki,M., Kahonen,M.,
            Mononen,N., Raitakari,O.T., Viikari,J.S., Adamkova,V., Kiechl,S.,
            Brion,M., Nicolaides,A.N., Paulweber,B., Haerting,J.,
            Dominiczak,A.F., Nyberg,F., Whincup,P.H., Hingorani,A.D.,
            Schott,J.J., Bezzina,C.R., Ingelsson,E., Ferrucci,L., Gasparini,P.,
            Wilson,J.F., Rudan,I., Franke,A., Muhleisen,T.W., Pramstaller,P.P.,
            Lehtimaki,T.J., Paterson,A.D., Parsa,A., Liu,Y., van Duijn,C.M.,
            Siscovick,D.S., Gudnason,V., Jamshidi,Y., Salomaa,V., Felix,S.B.,
            Sanna,S., Ritchie,M.D., Stricker,B.H., Stefansson,K., Boyer,L.A.,
            Cappola,T.P., Olsen,J.V., Lage,K., Schwartz,P.J., Kaab,S.,
            Chakravarti,A., Ackerman,M.J., Pfeufer,A., de Bakker,P.I. 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   4  (bases 1 to 1352)
  AUTHORS   Wagner,L.A., Wang,S., Wayner,E.A., Christensen,C., Perkins,S.J.,
            Ward,G.W., Weiss,R.B., Dunn,D.M., Redd,M.J., Spangrude,G.J. and
            Gleich,G.J.
  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   5  (bases 1 to 1352)
  AUTHORS   Close,P., Gillard,M., Ladang,A., Jiang,Z., Papuga,J., Hawkes,N.,
            Nguyen,L., Chapelle,J.P., 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   6  (bases 1 to 1352)
  AUTHORS   Bolukbasi,E., Vass,S., Cobbe,N., Nelson,B., Simossis,V.,
            Dunbar,D.R. and Heck,M.M.
  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 and BC000623.2.
            
            On Nov 22, 2018 this sequence version replaced NM_001031703.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225721.1, BC014204.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296149.9/ ENSP00000296149.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC099778.2         158227-158229       c
            4-99                AC099778.2         158131-158226       c
            100-893             BC000623.2         1-794
            894-1352            BC000623.2         796-1254
FEATURES             Location/Qualifiers
     source          1..1352
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1352
                     /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"
     CDS             123..923
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 103; angiotonin-transactivated
                     protein 1; UPF0405 protein C3orf75; elongator complex
                     protein 6 homolog"
                     /codon_start=1
                     /product="elongator complex protein 6 isoform 1"
                     /protein_id="NP_001026873.2"
                     /db_xref="CCDS:CCDS43082.1"
                     /db_xref="GeneID:54859"
                     /db_xref="HGNC:HGNC:25976"
                     /db_xref="MIM:615020"
                     /translation="MFVELNNLLNTTPDRAEQGKLTLLCDAKTDGSFLVHHFLSFYLK
                     ANCKVCFVALIQSFSHYSIVGQKLGVSLTMARERGQLVFLEGLKSAVDVVFQAQKEPH
                     PLQFLREANAGNLKPLFEFVREALKPVDSGEARWTYPVLLVDDLSVLLSLGMGAVAVL
                     DFIHYCRATVCWELKGNMVVLVHDSGDAEDEENDILLNGLSHQSHLILRAEGLATGFC
                     RDVHGQLRILWRRPSQPAVHRDQSFTYQYKIQDKSVSFFAKGMSPAVL"
     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..445
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            446..647
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            648..794
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     exon            795..1352
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="hexamer: AATAAA"
     polyA_site      1352
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="major polyA site"
ORIGIN      
        1 ggcattgcgc atgcgcgctt ccttgcgcga gccgggctgt cgggtgtgtt ttgctctcca
       61 gcctccgtcg tctctgcagc actccgggtt ctcctccaga gcgctagtcc caggagctcg
      121 gaatgttcgt ggaacttaat aacctgctta acaccacccc cgacagggcg gagcagggga
      181 aactgactct actctgtgat gccaagacag atgggagttt ccttgtacac cactttctct
      241 ccttctatct caaagctaat tgtaaagtct gctttgtggc actcatccag tccttcagcc
      301 actacagtat cgtgggacag aagctgggtg tcagcctgac catggcgcgg gagcgtgggc
      361 agcttgtgtt ccttgaggga ctcaagtctg cagtggacgt cgtcttccag gctcaaaagg
      421 agccacaccc cctgcagttt ctcagggagg ctaatgctgg gaacttgaaa ccattgtttg
      481 agtttgtacg ggaggccctg aagccagtag acagtggaga ggctcggtgg acgtacccgg
      541 tgctgttggt ggacgacctc agtgtgctcc tgagcctggg catgggggcg gtggctgtgc
      601 tagacttcat tcactactgc agagccaccg tgtgctggga actaaaggga aacatggtgg
      661 tccttgtgca cgacagtgga gatgcggagg atgaggagaa tgacatcctg ctgaatggcc
      721 tcagtcatca gagccatctg atactgcggg ctgagggcct ggccactggc ttctgcaggg
      781 atgtgcacgg gcagctgagg atcctgtgga ggagaccatc gcagcccgca gtccaccggg
      841 atcagagctt cacttaccag tataagatac aggacaaaag cgtgtccttt tttgccaaag
      901 gaatgtctcc tgctgttctg tgacctgatt tcggagcagc tgaagctaca taggactgtt
      961 tttggacgtg gaagatagag caacatagca agaatgggtc tttctcctct gtagtaatat
     1021 ttcaggctgg accggcgact ccactgtgac cagagggttg agtgctgcag tgatggcatg
     1081 ccttggctgc cctgggccct gttcagaaaa cacaagggac cacaatcctg cctttgctga
     1141 gagagaggct ggatgctaga cccaagtgaa aggggtcctt tggagccttt gtttaaatat
     1201 gccttagccc cagctgccca tttttggttg acaagccttt cagagccaga gtgggtatag
     1261 atgtgccagc caggagatgg caccggatgg caggtgtgca aggtgacaac taggataatc
     1321 atggctggaa taaagtaagt ttccacactg ga
//
