LOCUS       NM_001990               5999 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens EYA transcriptional coactivator and phosphatase 3
            (EYA3), transcript variant 1, mRNA.
ACCESSION   NM_001990
VERSION     NM_001990.4
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 5999)
  AUTHORS   Si,N., Zhan,G., Meng,X., Zhang,Z., Huang,X. and Pan,B.
  TITLE     Identification of novel mutations in EYA3 and EFTUD2 in a family
            with craniofacial microsomia: evidence of digenic inheritance
  JOURNAL   Front Med 17 (5), 1006-1009 (2023)
   PUBMED   37507637
  REMARK    GeneRIF: Identification of novel mutations in EYA3 and EFTUD2 in a
            family with craniofacial microsomia: evidence of digenic
            inheritance.
REFERENCE   2  (bases 1 to 5999)
  AUTHORS   Rong,Z., Shi,S., Tan,Z., Xu,J., Meng,Q., Hua,J., Liu,J., Zhang,B.,
            Wang,W., Yu,X. and Liang,C.
  TITLE     Circular RNA CircEYA3 induces energy production to promote
            pancreatic ductal adenocarcinoma progression through the
            miR-1294/c-Myc axis
  JOURNAL   Mol Cancer 20 (1), 106 (2021)
   PUBMED   34419070
  REMARK    GeneRIF: Circular RNA CircEYA3 induces energy production to promote
            pancreatic ductal adenocarcinoma progression through the
            miR-1294/c-Myc axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5999)
  AUTHORS   Tingaud-Sequeira,A., Trimouille,A., Salaria,M., Stapleton,R.,
            Claverol,S., Plaisant,C., Bonneu,M., Lopez,E., Arveiler,B.,
            Lacombe,D. and Rooryck,C.
  TITLE     A recurrent missense variant in EYA3 gene is associated with
            oculo-auriculo-vertebral spectrum
  JOURNAL   Hum Genet 140 (6), 933-944 (2021)
   PUBMED   33475861
  REMARK    GeneRIF: A recurrent missense variant in EYA3 gene is associated
            with oculo-auriculo-vertebral spectrum.
REFERENCE   4  (bases 1 to 5999)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 5999)
  AUTHORS   Robin,T.P., Smith,A., McKinsey,E., Reaves,L., Jedlicka,P. and
            Ford,H.L.
  TITLE     EWS/FLI1 regulates EYA3 in Ewing sarcoma via modulation of
            miRNA-708, resulting in increased cell survival and chemoresistance
  JOURNAL   Mol Cancer Res 10 (8), 1098-1108 (2012)
   PUBMED   22723308
  REMARK    GeneRIF: These studies identify EYA3 as a novel mediator of
            chemoresistance in Ewing sarcoma and define the molecular
            mechanisms of both EYA3 overexpression and of EYA3-mediated
            chemoresistance
REFERENCE   6  (bases 1 to 5999)
  AUTHORS   Ikeda,K., Watanabe,Y., Ohto,H. and Kawakami,K.
  TITLE     Molecular interaction and synergistic activation of a promoter by
            Six, Eya, and Dach proteins mediated through CREB binding protein
  JOURNAL   Mol Cell Biol 22 (19), 6759-6766 (2002)
   PUBMED   12215533
REFERENCE   7  (bases 1 to 5999)
  AUTHORS   Ohto,H., Kamada,S., Tago,K., Tominaga,S.I., Ozaki,H., Sato,S. and
            Kawakami,K.
  TITLE     Cooperation of six and eya in activation of their target genes
            through nuclear translocation of Eya
  JOURNAL   Mol Cell Biol 19 (10), 6815-6824 (1999)
   PUBMED   10490620
REFERENCE   8  (bases 1 to 5999)
  AUTHORS   Borsani,G., DeGrandi,A., Ballabio,A., Bulfone,A., Bernard,L.,
            Banfi,S., Gattuso,C., Mariani,M., Dixon,M., Donnai,D., Metcalfe,K.,
            Winter,R., Robertson,M., Axton,R., Brown,A., van Heyningen,V. and
            Hanson,I.
  TITLE     EYA4, a novel vertebrate gene related to Drosophila eyes absent
  JOURNAL   Hum Mol Genet 8 (1), 11-23 (1999)
   PUBMED   9887327
REFERENCE   9  (bases 1 to 5999)
  AUTHORS   Zimmerman,J.E., Bui,Q.T., Steingrimsson,E., Nagle,D.L., Fu,W.,
            Genin,A., Spinner,N.B., Copeland,N.G., Jenkins,N.A., Bucan,M. and
            Bonini,N.M.
  TITLE     Cloning and characterization of two vertebrate homologs of the
            Drosophila eyes absent gene
  JOURNAL   Genome Res 7 (2), 128-141 (1997)
   PUBMED   9049631
REFERENCE   10 (bases 1 to 5999)
  AUTHORS   Abdelhak,S., Kalatzis,V., Heilig,R., Compain,S., Samson,D.,
            Vincent,C., Weil,D., Cruaud,C., Sahly,I., Leibovici,M.,
            Bitner-Glindzicz,M., Francis,M., Lacombe,D., Vigneron,J.,
            Charachon,R., Boven,K., Bedbeder,P., Van Regemorter,N.,
            Weissenbach,J. and Petit,C.
  TITLE     A human homologue of the Drosophila eyes absent gene underlies
            branchio-oto-renal (BOR) syndrome and identifies a novel gene
            family
  JOURNAL   Nat Genet 15 (2), 157-164 (1997)
   PUBMED   9020840
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC416048.1, AK289805.1,
            AL512288.19 and CR748247.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001990.3.
            
            Summary: This gene encodes a member of the eyes absent (EYA) family
            of proteins. The encoded protein may act as a transcriptional
            activator and have a role during development. It can act as a
            mediator of chemoresistance and cell survival in Ewing sarcoma
            cells, where this gene is up-regulated via a micro-RNA that binds
            to the 3' UTR of the transcript. A similar protein in mice acts as
            a transcriptional activator. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Sep
            2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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.
            
            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 :: BX648945.1, SRR1803612.187486.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373871.8/ ENSP00000362978.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DC416048.1         28-41
            15-2116             AK289805.1         1-2102
            2117-5606           AL512288.19        60496-63985
            5607-5999           CR748247.1         15-407
FEATURES             Location/Qualifiers
     source          1..5999
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     gene            1..5999
                     /gene="EYA3"
                     /note="EYA transcriptional coactivator and phosphatase 3"
                     /db_xref="GeneID:2140"
                     /db_xref="HGNC:HGNC:3521"
                     /db_xref="MIM:601655"
     exon            1..87
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            88..188
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1877
                     /gene="EYA3"
                     /EC_number="3.1.3.48"
                     /note="isoform a is encoded by transcript variant 1; eyes
                     absent 3; eyes absent homolog 3; protein phosphatase EYA3"
                     /codon_start=1
                     /product="protein phosphatase EYA3 isoform a"
                     /protein_id="NP_001981.2"
                     /db_xref="CCDS:CCDS316.1"
                     /db_xref="GeneID:2140"
                     /db_xref="HGNC:HGNC:3521"
                     /db_xref="MIM:601655"
                     /translation="MEEEQDLPEQPVKKAKMQESGEQTISQVSNPDVSDQKPETSSLA
                     SNLPMSEEIMTCTDYIPRSSNDYTSQMYSAKPYAHILSVPVSETAYPGQTQYQTLQQT
                     QPYAVYPQATQTYGLPPFGALWPGMKPESGLIQTPSPSQHSVLTCTTGLTTSQPSPAH
                     YSYPIQASSTNASLISTSSTIANIPAAAVASISNQDYPTYTILGQNQYQACYPSSSFG
                     VTGQTNSDAESTTLAATTYQSEKPSVMAPAPAAQRLSSGDPSTSPSLSQTTPSKDTDD
                     QSRKNMTSKNRGKRKADATSSQDSELERVFLWDLDETIIIFHSLLTGSYAQKYGKDPT
                     VVIGSGLTMEEMIFEVADTHLFFNDLEECDQVHVEDVASDDNGQDLSNYSFSTDGFSG
                     SGGSGSHGSSVGVQGGVDWMRKLAFRYRKVREIYDKHKSNVGGLLSPQRKEALQRLRA
                     EIEVLTDSWLGTALKSLLLIQSRKNCVNVLITTTQLVPALAKVLLYGLGEIFPIENIY
                     SATKIGKESCFERIVSRFGKKVTYVVIGDGRDEEIAAKQHNMPFWRITNHGDLVSLHQ
                     ALELDFL"
     exon            189..232
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            233..312
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            313..379
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            380..516
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            517..654
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            655..740
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            741..924
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1064
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1148
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1238
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1297
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1458
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1573
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1695
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1696..1796
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1797..5999
                     /gene="EYA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2364..2369
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EYA3"
                     /note="hexamer: GATAAA"
     polyA_site      2392
                     /gene="EYA3"
     regulatory      5978..5983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EYA3"
                     /note="hexamer: AATAAA"
     polyA_site      5999
                     /gene="EYA3"
                     /note="major polyA site"
ORIGIN      
        1 aacgccgcgg tttcctccgc tcgattggtt ctactgtggg tctggactga tctccatgtc
       61 ctgttgtggg gcttttacag cctttggatt gtgaaaactg ctgagagaga cttgcaatcc
      121 agtcacataa gtataataaa gaaatattgg tcctcatgga agaagagcaa gatttaccag
      181 agcaaccagt gaaaaaagcc aagatgcagg aatcaggaga gcaaactata agtcaagtaa
      241 gcaatccaga tgtcagtgat cagaagcctg aaacatcaag ccttgcttca aaccttccca
      301 tgtcagagga aattatgaca tgcaccgatt acatccctcg ctcatccaat gattatacct
      361 cacaaatgta ttctgcaaaa ccttatgcac atattctctc agttcctgtt tcggaaactg
      421 cttaccctgg acagactcaa taccagacac tacagcagac tcaaccctat gctgtctacc
      481 ctcaggcaac ccaaacgtat ggactacctc cttttggtgc attgtggcca ggtatgaaac
      541 ctgaaagtgg tttaattcag actccatctc caagtcaaca cagtgttctt acctgcacta
      601 cagggttaac cacaagccag ccaagcccag cacattattc ttatcccatt caagcttcaa
      661 gcacaaatgc cagcctgata tctacttctt ctacaattgc caatattcca gcagcagcag
      721 tagccagcat ctcaaaccag gattatccca cctatactat tcttggtcag aatcagtacc
      781 aggcctgcta ccccagctcc agctttggag tcacaggtca gactaacagt gatgcagaga
      841 gcaccacatt agcagcaacc acataccagt cggagaagcc tagtgtcatg gcgcctgcac
      901 ctgcagcaca gagactttcc tctggagacc cttctacaag tccatctttg tcccagacta
      961 caccaagtaa agatactgat gatcagtcca ggaaaaacat gactagcaag aaccggggca
     1021 agaggaaagc tgatgccact tcttcccaag acagtgaatt agaacgggta tttctgtggg
     1081 acttggatga aaccatcatc atcttccact cacttcttac tggatcctat gcccagaaat
     1141 atggaaagga cccaacagta gtgattggct caggtttaac aatggaagaa atgatttttg
     1201 aagtggctga tactcatcta tttttcaatg acttagagga gtgtgaccag gtacatgtgg
     1261 aagatgtggc ttctgatgac aatggccaag acttgagcaa ctacagtttc tcaacagatg
     1321 gtttcagtgg ctcaggaggt agtggcagcc atggttcatc tgtgggtgtt cagggaggtg
     1381 tggactggat gaggaaacta gctttccgct accggaaagt gagagaaatc tatgataagc
     1441 ataaaagcaa cgtgggtggt ctcctcagtc cccagaggaa ggaagcactg cagagattaa
     1501 gagcagaaat tgaagtttta acagattcct ggttaggaac tgcattaaag tccttacttc
     1561 tcatccagtc cagaaagaat tgtgtgaatg ttctgatcac taccacccag ctggttccag
     1621 ccctggccaa ggttctccta tatggactag gagaaatatt tcctattgag aacatctata
     1681 gtgctaccaa aattggtaag gagagctgct ttgagagaat tgtgtcaagg tttggaaaga
     1741 aagtcacata tgtagtgatt ggagatggac gagatgaaga aattgcagcc aaacagcaca
     1801 acatgccttt ctggaggatc acaaaccatg gagacctagt atcccttcac caggctttag
     1861 agcttgattt tctctaagaa ctggaatgag gagccttccc cttgagctcc ttttcactcc
     1921 tgaagggagc tggagactgg aaccaactga gaactttctc tgtctgtctc tctctgtgtc
     1981 tctgtctcta tctctctctc tttctctctt tctctctctc cctctctccc tccctccctt
     2041 cctctctccc tccctctctg cctctctctc tctctctctc tctgtcttta tccatggaat
     2101 gctggcgaga acacaatcag aaccaacagc tgcaattttt gctaagagtg agctgcagcc
     2161 ccgtgttcat ctccatacag aagcagggac agttggatag agagaacaat ggactcactg
     2221 cagctacagt gcttttaatt tttctgtgtt ttgtttttgt ttttttgttt tcaaaaaatg
     2281 aaaaagaaaa ggaaattcct ggggcagagt tgcactctta gtccatgacc agattgagaa
     2341 ttactgataa cttgtggtga tcagataaat gcagcagact tttatgataa catctcttgc
     2401 agtcttagag tctccttagc ttagaatctc acttatttcc agcgaatgtg tatgttattt
     2461 ttataggtaa gggtctgatc tttgacgcag gtttccccca ctttcttttt ctagcaagaa
     2521 ggggtgttta aagtcttgaa aatagtaatt gaaatatcta aaatacctcc ctgtggcagt
     2581 agcacctcta tagctgctcc agtggtctgc tctctaggat gatacctttc ctgttcttct
     2641 atctcctagc tggtgaactg tggggcactg gacactgagt aacttaaact ttggcatttc
     2701 ccatctagaa gccttagtct tctttccagt cccttttccc tttagtcaaa tggcacaacc
     2761 ctaaaaactc cttcagcttg actgtcattc agactgtatc acaggaggct tagcttccaa
     2821 actggagaga aggaactaaa gtgtcttatg aatttcagct tcttggctct tgagaccgaa
     2881 aggttctacc tattccccct gcagagaagc acccatttcc catcagatgc tcgtccctgc
     2941 agcttcttcc ttcttggtca tcataatgct aggttcttac ccctttcctg ccctctgcac
     3001 ctcatgtcca cctccaggca gctctggcca gtccccgggt attagaccca agaattcaaa
     3061 tcaaatctaa aaacatgctt ataactacat tttggccaaa actgccaatg tatttgactt
     3121 cctttgtgga agccctaagc catatgaagg atgtcccagg tatgtattta cccagatctc
     3181 tgcctgaaac tgaagagcag attgctgtat ttaaattttc ccatggaaaa ccctgcttct
     3241 caaatcccat tctaaagtag gaaaccagaa agactttgct gattgtgggg ggaagggaga
     3301 aacagacagg ttttcacatt gttgccaagg ctggtcttga acacctggcc tcaagcgatc
     3361 ctcccacctc ggcctctcaa agtgttggga ttgtaggcat gagccactgc acccagccag
     3421 actttcctga tttaaatgag agtactgcat cattccctac ttcatggccc aaaacttaat
     3481 cctgggccaa atgcaggagc atctctcgac ctctgggcag attggtgggt gcccaggcac
     3541 tagtcacagc cttccagccc agccatgatt gttggatgcc ccatccctcc aagagcaatt
     3601 tgggcatcta ctcaggcagg ataaaattcc ctagagctga ggaagttcag cctctcccag
     3661 gctacacaga gagagatgat acaagcacct cagattgaga tgcaggattg gtccgcagaa
     3721 ggaggcattg ttgaccaacc ccagctataa ttgcttgtca ccagagattc tgcataccca
     3781 tttccagaga tgttgcagca caaagaggca agactccttc caatgccagg ccacccagat
     3841 agcaagagag agaggctggt atacacattc cttcagaact cattgaaaag cgctcataac
     3901 tcgtgatttt aaggagtaag tttttgctga gtagctgaag tcagtgctcc tttacttagc
     3961 tgcctctttg gccttgtttc ctgtggggtt gggaggaggg agatgtagtg tgaggtaggc
     4021 cttcccttgg tctgtattca gcatagttgc ctagatgctg ctctgccttg tttgatggtt
     4081 gatcttagga agctctaggt tttactctga ggcctcaaac cctcccccta tgcagtatag
     4141 ctgttgggtt tttgtcctgg acaaaggcca cggctgttgt gctgcgcttc aggtttgtga
     4201 ggctgcggag tggtaccccc accatgcacg caagcacaca cacacagata cttccctctc
     4261 cacccttttg ggagctcttt attttagaat gtaacttgaa ctcactttta tcattggcct
     4321 ttttcctctt actctgactt cctagcttag ctctttccaa aaggaacttg aacttggcca
     4381 agagaggtaa ggaggctgag cagagcagtc tttgctcatt cctggttgtt gccaccctca
     4441 tttaaatgga agagagaaaa caggagcttc ttggctgttt gccaaaatga attgtccagg
     4501 gaacacagtg ctctctgtaa ttaccctgcc tttttctcca ccccaacaca aaaatctgga
     4561 aaggaaaata agtgggtagg attaagagct gttagaagct gaggaccaaa ggacactgtg
     4621 ggtccattca tcaaggggga gaccctcttc attagagtcc tcatgaaatt agccaaatga
     4681 tgagtccttc cctagctggg catggtgggt tctctttttt tttttttttt tttttttgtt
     4741 gttgttgttg agatggagtc tcgctctgtc acccaggctg gagtacagtg gcatgatctc
     4801 ggctcactgc aacctccgcc tcccaggttc aagcgattct cctacctcag cctcctgatt
     4861 agctgagatt acaggcgccc accaccacgc ctggctaatt tttgtatttt tagtagagat
     4921 ggggtttcac catgttgacc aggctgttct caaactcctg acctcaggtg atctgctcac
     4981 cttggcctcc caaagtgctg ggattacagg catgagccac catgcctggc caggcactgt
     5041 gggttctaca ggatgggtct gtaatgtcac ggtgagggct ctctctagta gtagatctgg
     5101 agtgaggtgt gtcttgggtt gaggaggtgg cttgactttc gaatgtaaaa ctgactgtgc
     5161 cttagcatca ccctgtccag tgcccctggg gcagctggta gtgtccagaa gaatggacac
     5221 ctgctccaga tttagatgcc catctgggct tttgtttgat ttgcggcgtt cctgtcttct
     5281 gtaaagctag tgagttgtcc caagagactg atgccacagc ttgttcgcag tttacacaaa
     5341 ctcagcttta aaattccaaa tagaatctga cttgcaaact ctagctgcag catgtggagc
     5401 ttctagatgt ttactacctt gaatggttgt cagtgtcact gaaccacagg ggagaggagt
     5461 atggggtaga gcaatggtct gggccaagga atggtgagct tagggtcttc ctctgactcc
     5521 ttactcctca aggaggcagt tagggtccct cttaagcagg cttctatttc ttaccactaa
     5581 attggtttcc tttttcatcc agaagttaga actccccaga tattcacact ataggatctg
     5641 aattccgaga ttctaaaata tcttaaacca caagagagaa aatctagttc tgcctcagcc
     5701 ccagtcagca ggccatctgt cccttcctct cctctgagtc agacagctct ggcaagcaag
     5761 gctccttggc tagttcctaa tgcactgaca ggagccctcc cattaaggac gacttctact
     5821 caaaatgcga ctctccctct gaacttcaga tgcctctgtt agcaggaaaa ggcattgatt
     5881 ggattggata tatttatgtg actgcgggca tttgtggctg tagaatccgt gaccgtaatg
     5941 ttatatgtaa tgggaactat cttataaact tgaaaaaaat aaagttttta ttttctata
//
