LOCUS       NM_001284224            2945 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens elongator acetyltransferase complex subunit 3 (ELP3),
            transcript variant 4, mRNA.
ACCESSION   NM_001284224 XM_005273554
VERSION     NM_001284224.2
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 2945)
  AUTHORS   Pereira,M., Ribeiro,D.R., Berg,M., Tsai,A.P., Dong,C., Nho,K.,
            Kaiser,S., Moutinho,M. and Soares,A.R.
  TITLE     Amyloid pathology reduces ELP3 expression and tRNA modifications
            leading to impaired proteostasis
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (1), 166857 (2024)
   PUBMED   37640114
  REMARK    GeneRIF: Amyloid pathology reduces ELP3 expression and tRNA
            modifications leading to impaired proteostasis.
REFERENCE   2  (bases 1 to 2945)
  AUTHORS   Barznegar,M., Rahimi,K., Mahdavi,P., Menbari,M.N., Darvishi,N.,
            Vahabzadeh,Z., Hakhamaneshi,M.S., Andalibi,P. and Abdi,M.
  TITLE     Relation between the circular and linear form of the Elongator
            Acetyltransferase Complex Subunit 3 in the progression of
            triple-negative breast cancer
  JOURNAL   Cell Biochem Funct 40 (6), 550-558 (2022)
   PUBMED   35722999
  REMARK    GeneRIF: Relation between the circular and linear form of the
            Elongator Acetyltransferase Complex Subunit 3 in the progression of
            triple-negative breast cancer.
REFERENCE   3  (bases 1 to 2945)
  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   4  (bases 1 to 2945)
  AUTHORS   Li,M.T., Liang,J.Y., Sun,Y.P., Jin,J., Xiong,Y., Guan,K.L. and
            Yuan,H.X.
  TITLE     ELP3 Acetyltransferase is phosphorylated and regulated by the
            oncogenic anaplastic lymphoma kinase (ALK)
  JOURNAL   Biochem J 476 (15), 2239-2254 (2019)
   PUBMED   31341009
  REMARK    GeneRIF: study reveals a novel regulatory mechanism for ELP3,
            provides an example that acetyltransferase itself can be regulated
            by PTM, and suggests a potential target for ALK-positive cancer
            therapies.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2945)
  AUTHORS   Xu,Y., Zhou,W., Ji,Y., Shen,J., Zhu,X., Yu,H., Guo,J., Pang,Z. and
            Wei,W.
  TITLE     Elongator promotes the migration and invasion of hepatocellular
            carcinoma cell by the phosphorylation of AKT
  JOURNAL   Int J Biol Sci 14 (5), 518-530 (2018)
   PUBMED   29805303
  REMARK    GeneRIF: Elongator activated migration and invasion of
            hepatocellular carcinoma cells by promoting the expression of MMP-2
            and MMP-9 through the PI3K/AKT signaling pathway
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2945)
  AUTHORS   Barrios-Rodiles,M., Brown,K.R., Ozdamar,B., Bose,R., Liu,Z.,
            Donovan,R.S., Shinjo,F., Liu,Y., Dembowy,J., Taylor,I.W., Luga,V.,
            Przulj,N., Robinson,M., Suzuki,H., Hayashizaki,Y., Jurisica,I. and
            Wrana,J.L.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   7  (bases 1 to 2945)
  AUTHORS   Kim,J.H., Lane,W.S. and Reinberg,D.
  TITLE     Human Elongator facilitates RNA polymerase II transcription through
            chromatin
  JOURNAL   Proc Natl Acad Sci U S A 99 (3), 1241-1246 (2002)
   PUBMED   11818576
REFERENCE   8  (bases 1 to 2945)
  AUTHORS   Hawkes,N.A., Otero,G., Winkler,G.S., Marshall,N., Dahmus,M.E.,
            Krappmann,D., Scheidereit,C., Thomas,C.L., Schiavo,G.,
            Erdjument-Bromage,H., Tempst,P. and Svejstrup,J.Q.
  TITLE     Purification and characterization of the human elongator complex
  JOURNAL   J Biol Chem 277 (4), 3047-3052 (2002)
   PUBMED   11714725
REFERENCE   9  (bases 1 to 2945)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 2945)
  AUTHORS   Ninomiya,Y., Okada,M., Kotomura,N., Suzuki,K., Tsukiyama,T. and
            Niwa,O.
  TITLE     Genomic organization and isoforms of the mouse ELP gene
  JOURNAL   J Biochem 118 (2), 380-389 (1995)
   PUBMED   8543574
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK302140.1, AC019031.7, AC021678.13 and BU683531.1.
            
            On Jun 1, 2019 this sequence version replaced NM_001284224.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            lacks a portion of the 5' coding region, compared to variant 1.
            These differences cause translation initiation at a downstream AUG
            and result in an isoform (4) with a shorter N-terminus, compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments. Variants 4
            and 5 encode the same isoform (5).
            
            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 :: SRR1660809.66683.1, AK302140.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-201               AK302140.1         38-238
            202-232             AC019031.7         66672-66702         c
            233-1886            AK302140.1         270-1923
            1887-2719           AC021678.13        24891-25723
            2720-2945           BU683531.1         16-241              c
FEATURES             Location/Qualifiers
     source          1..2945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.1"
     gene            1..2945
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /note="elongator acetyltransferase complex subunit 3"
                     /db_xref="GeneID:55140"
                     /db_xref="HGNC:HGNC:20696"
                     /db_xref="MIM:612722"
     exon            1..95
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            96..195
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            196..266
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1517
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /EC_number="2.3.1.311"
                     /note="isoform 4 is encoded by transcript variant 4;
                     elongator complex protein 3; elongation protein 3 homolog;
                     tRNA uridine(34) acetyltransferase; protein lysine
                     acetyltransferase ELP3"
                     /codon_start=1
                     /product="elongator complex protein 3 isoform 4"
                     /protein_id="NP_001271153.1"
                     /db_xref="CCDS:CCDS64861.1"
                     /db_xref="GeneID:55140"
                     /db_xref="HGNC:HGNC:20696"
                     /db_xref="MIM:612722"
                     /translation="MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD
                     KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIE
                     TRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGF
                     KVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRY
                     KSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLG
                     IQCRDVRTREVGIQEIHHKVRPYQVELVRRDYVANGGWETFLSYEDPDQDILIGLLRL
                     RKCSEETFRFELGGGVSIVRELHVYGSVVPVSSRDPTKFQHQGFGMLLMEEAERIARE
                     EHGSGKIAVISGVGTRNYYRKIGYRLQGPYMVKMLK"
     exon            267..335
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            336..490
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            491..652
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            653..779
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            780..973
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1064
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1130
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1358
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1440
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..2945
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1860..1865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /note="hexamer: AATAAA"
     polyA_site      1889
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /note="major polyA site"
     regulatory      2922..2927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /note="hexamer: AATAAA"
     polyA_site      2945
                     /gene="ELP3"
                     /gene_synonym="KAT9"
                     /note="major polyA site"
ORIGIN      
        1 ggctgtcagc tttccccgtg gtctgagttt gtggctgcat ttttatctct ggtggctctg
       61 ctacggcggc gcagaaatga ggcagaagcg gaaaggagat ctcagccctg ctgagctgat
      121 gatgctgact ataggagatg ttattaaaca actgattgaa gcccacgagc aggggaaaga
      181 catcgatcta aataaattgc tgtcgtggct gtgatgtgca aaccccacag atgtccacac
      241 atcagtttta caggaaatat atgtgtccaa cctccatgag agctatccgt gccagatatg
      301 accctttcct acagacaaga caccgaatag aacagttaaa acaacttggt catagtgtgg
      361 ataaagtgga gtttattgtg atgggtggaa cgtttatggc ccttccagaa gaatacagag
      421 attattttat tcgaaattta catgatgcct tatcaggaca tacttccaac aatatttacg
      481 aggcagtcaa gtattctgag agaagcctca caaagtgtat tggaattact attgaaacca
      541 gaccagatta ctgcatgaag cgacatttaa gtgacatgtt gacctatggc tgcacaaggc
      601 tggagattgg ggtgcagagt gtttatgaag atgtggctag agacaccaac aggggccaca
      661 ctgtgaaggc agtgtgtgag tcatttcacc tggccaaaga ttccggtttt aaagtggtgg
      721 cccatatgat gcctgacctg ccaaacgtgg gactagaaag agacattgaa cagttcacag
      781 agttttttga gaaccctgct tttcgtcccg atgggctgaa actctatcct accctggtga
      841 ttcgtgggac cgggctttat gagctttgga aatcaggaag atataagagt tactctccta
      901 gtgacctggt tgaattggtg gctcggatcc tagccctcgt gcctccatgg actcgagtgt
      961 accgagtaca gagggatatt ccaatgcctt tagttagctc aggagtagag catggtaacc
     1021 tgagagagct ggcacttgca agaatgaaag acctcggaat acagtgtcga gatgtgagaa
     1081 ccagagaagt tggaatccaa gaaattcatc acaaagtacg gccataccag gttgaattgg
     1141 taaggagaga ttatgttgca aatggtggct gggaaacatt cttgtcatac gaagacccag
     1201 atcaagacat tttgattggc ctcctacgat tacgcaagtg ttcagaagaa actttccgtt
     1261 tcgaattggg tggaggtgtc tccatagtac gagagctgca tgtgtatggg agtgtggtcc
     1321 ctgtgagcag ccgggatcct actaaatttc agcatcaggg atttggcatg ctgctgatgg
     1381 aggaagcaga aagaatagct agagaagaac atgggtctgg gaaaatcgct gtgatatcag
     1441 gggtcggcac caggaattat tatagaaaga tcggctacag attacaaggc ccgtacatgg
     1501 tgaagatgct gaaataatgg ccacaccagt ccactcttct gcagtatcct ccctggcaga
     1561 acacggagaa tcaggatttc ttaaatactc aacagagagg ctgagcagag caaatggggg
     1621 gcttcaccct catcccgcag ctgcagagac tggaaactgc cttcaaggcc acggctggtc
     1681 atctgctgac cacaccccag atccgccctc tcctgcgtgc accccaaaaa atcacttgcg
     1741 tttttgaggc ttaaatcatc tatccagttt ctacattttg catgaggcct gcaggtggcc
     1801 tattttgact cagacggtga aaaaagcaaa ttaactcatt tggacaccat aactcatgca
     1861 ataaaactga ttgtcattcg aggagcaaac ttaagagtag tttatttata taccctgggg
     1921 acagaaagtc aggttgaaac aggaaaacca ccagactcta atctcagccc tttaacgaca
     1981 tacgcattgg agcgcaagtt aggaaaatga gcttttgttt tcatggaaat cattctgatt
     2041 acagtgctga tgtttagaaa taaatagcag tgtgactggg aaagaggaat tgcagttgtg
     2101 ggggtgtgag cctggcagca gccagccagc agcctctccc aggcgggagt ctaccatccg
     2161 agacggcgat gacaaagagc ttcattccac attctttgtt atctctactt cccaccctct
     2221 tggcaactac agagcagtgt gggcagcccc aagtgtggtc cccagagagc gtttggcttt
     2281 cctgtctgtc tatcctgagc gggtggagtc tcaggttgtg tgcccctaaa tcaagatttg
     2341 cttccacaga agccattact tgcaattttt tttttttttc tgagaaagtc tcgctgtgtc
     2401 acccaggctg gagtgcagtg gcgcaatctc actgcatcct ccgcctcccg ggttcaagcg
     2461 attctcccgc ctcagcctcc tgagtagctg ggattacagg cacccgccgc tgctaatttt
     2521 tgtattttta gtagagatgg gggtttcacc atattggtca ggctggtctc gaactcctga
     2581 cctcaggtga tcaacccacc ttggcctccc taaatgccgg gattacaggc atgagccacc
     2641 gctcccagcc tttgattttt taaggtggat tttggttgtt ataaatggag aaaggtaaga
     2701 gttcaagttc aacccgtgtg tgaaagcaaa acaatggaaa acaggattgg cttcttcaaa
     2761 ggctcctctt gtagaactgc ctctttgaaa tttcgaggta atctactttg gagactctgc
     2821 ctggagaggg tcagttccta agttaaaagc atcgcttaac cttggctcct gtggcatttt
     2881 acaaaggttt aaaggaattg attcctctga aagggcctga aaataaaaag tctttaacat
     2941 acaaa
//
