LOCUS       NM_000503               4163 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens EYA transcriptional coactivator and phosphatase 1
            (EYA1), transcript variant EYA1C, mRNA.
ACCESSION   NM_000503
VERSION     NM_000503.6
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 4163)
  AUTHORS   Shao,H., Li,Y., Zhao,H., Lin,K., Gao,Y., Ming,C. and Ma,J.
  TITLE     [Clinical phenotypic and genetic analysis of syndrome families with
            EYA1 gene variants]
  JOURNAL   Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 38 (7), 636-640
            (2024)
   PUBMED   38973045
  REMARK    GeneRIF: [Clinical phenotypic and genetic analysis of syndrome
            families with EYA1 gene variants].
REFERENCE   2  (bases 1 to 4163)
  AUTHORS   Zhang,H., Gao,J., Wang,H., Liu,M., Lu,S., Xu,H., Tang,W. and
            Zheng,G.
  TITLE     Novel likely pathogenic variant in the EYA1 gene causing Branchio
            oto renal syndrome and the exploration of pathogenic mechanisms
  JOURNAL   BMC Med Genomics 17 (1), 89 (2024)
   PUBMED   38627775
  REMARK    GeneRIF: Novel likely pathogenic variant in the EYA1 gene causing
            Branchio oto renal syndrome and the exploration of pathogenic
            mechanisms.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4163)
  AUTHORS   Wang,F., Zhang,R., Jian,J., Sun,Y. and Li,Q.
  TITLE     Identification and Functional Study of Enhancers of EYA1: The
            Causative Gene of Branchio-Oto-Renal Syndrome
  JOURNAL   Dev Neurosci 46 (5), 333-340 (2024)
   PUBMED   38228108
  REMARK    GeneRIF: Identification and Functional Study of Enhancers of EYA1:
            The Causative Gene of Branchio-Oto-Renal Syndrome.
REFERENCE   4  (bases 1 to 4163)
  AUTHORS   Yalcouye,A., Traore,O., Diarra,S., Schrauwen,I., Esoh,K.,
            Kadlubowska,M.K., Bharadwaj,T., Adadey,S.M., Keita,M., Guinto,C.O.,
            Leal,S.M., Landoure,G. and Wonkam,A.
  TITLE     A monoallelic variant in EYA1 is associated with Branchio-Otic
            syndrome in a Malian family
  JOURNAL   Mol Genet Genomic Med 10 (7), e1995 (2022)
   PUBMED   35698919
  REMARK    GeneRIF: A monoallelic variant in EYA1 is associated with
            Branchio-Otic syndrome in a Malian family.
REFERENCE   5  (bases 1 to 4163)
  AUTHORS   Pignoni,F., Hu,B., Zavitz,K.H., Xiao,J., Garrity,P.A. and
            Zipursky,S.L.
  TITLE     The eye-specification proteins So and Eya form a complex and
            regulate multiple steps in Drosophila eye development
  JOURNAL   Cell 91 (7), 881-891 (1997)
   PUBMED   9428512
  REMARK    Erratum:[Cell 1998 Feb 20;92(4):following 585]
REFERENCE   6  (bases 1 to 4163)
  AUTHORS   Abdelhak,S., Kalatzis,V., Heilig,R., Compain,S., Samson,D.,
            Vincent,C., Levi-Acobas,F., Cruaud,C., Le Merrer,M., Mathieu,M.,
            Konig,R., Vigneron,J., Weissenbach,J., Petit,C. and Weil,D.
  TITLE     Clustering of mutations responsible for branchio-oto-renal (BOR)
            syndrome in the eyes absent homologous region (eyaHR) of EYA1
  JOURNAL   Hum Mol Genet 6 (13), 2247-2255 (1997)
   PUBMED   9361030
REFERENCE   7  (bases 1 to 4163)
  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
REFERENCE   8  (bases 1 to 4163)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   9  (bases 1 to 4163)
  AUTHORS   Smith,R.J.H.
  TITLE     Branchiootorenal Spectrum Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301554
REFERENCE   10 (bases 1 to 4163)
  AUTHORS   Stoppa-Lyonnet,D., Carter,P.E., Meo,T. and Tosi,M.
  TITLE     Clusters of intragenic Alu repeats predispose the human C1
            inhibitor locus to deleterious rearrangements
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1551-1555 (1990)
   PUBMED   2154751
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016465.8 and AC022858.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000503.5.
            
            Summary: This gene encodes a member of the eyes absent (EYA) family
            of proteins. The encoded protein may play a role in the developing
            kidney, branchial arches, eye, and ear. Mutations of this gene have
            been associated with branchiootorenal dysplasia syndrome,
            branchiootic syndrome, and sporadic cases of congenital cataracts
            and ocular anterior segment anomalies. A similar protein in mice
            can act as a transcriptional activator. Alternatively spliced
            transcript variants have been identified for this gene. [provided
            by RefSeq, Dec 2013].
            
            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 :: AJ000098.1, SRR18074969.43291.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340726.8/ ENSP00000342626.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-423               AC016465.8         21172-21594
            424-473             AC016465.8         26730-26779
            474-601             AC016465.8         28332-28459
            602-679             AC016465.8         49067-49144
            680-749             AC016465.8         60973-61042
            750-895             AC016465.8         61362-61507
            896-1033            AC016465.8         65552-65689
            1034-1116           AC016465.8         83521-83603
            1117-1303           AC016465.8         84008-84194
            1304-1443           AC016465.8         111344-111483
            1444-1527           AC016465.8         113418-113501
            1528-1617           AC016465.8         138549-138638
            1618-1676           AC022858.8         16017-16075
            1677-1837           AC022858.8         16188-16348
            1838-1952           AC022858.8         17312-17426
            1953-2074           AC022858.8         17532-17653
            2075-2175           AC022858.8         21784-21884
            2176-4163           AC022858.8         33620-35607
FEATURES             Location/Qualifiers
     source          1..4163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.3"
     gene            1..4163
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /note="EYA transcriptional coactivator and phosphatase 1"
                     /db_xref="GeneID:2138"
                     /db_xref="HGNC:HGNC:3519"
                     /db_xref="MIM:601653"
     exon            1..423
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            424..473
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            474..601
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     CDS             478..2256
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.48"
                     /note="isoform 1 is encoded by transcript variant EYA1C;
                     eyes absent homolog 1; protein phosphatase EYA1"
                     /codon_start=1
                     /product="protein phosphatase EYA1 isoform 1"
                     /protein_id="NP_000494.2"
                     /db_xref="CCDS:CCDS34906.1"
                     /db_xref="GeneID:2138"
                     /db_xref="HGNC:HGNC:3519"
                     /db_xref="MIM:601653"
                     /translation="MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKT
                     EPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPS
                     SQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQ
                     TGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSY
                     PSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAE
                     YSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETII
                     VFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSS
                     DDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKN
                     NVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPA
                     LAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKK
                     HAMPFWRISSHSDLMALHHALELEYL"
     exon            602..679
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            680..749
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            750..895
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1033
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1116
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1303
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1443
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1527
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1617
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1676
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..1837
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..1952
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1953..2074
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            2075..2175
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     exon            2176..4163
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3422..3427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /note="hexamer: AATAAA"
     polyA_site      3454
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
     regulatory      4136..4141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /note="hexamer: AATAAA"
     polyA_site      4163
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1; OTFCS"
                     /note="major polyA site"
ORIGIN      
        1 ctcagatgct atctgccgct gctgtttggt ggggaaggag cgctgggcgc aaagctgtta
       61 ccaaacagaa cggtgggagc tgatggctcc gagtttgggg cgaggtagaa actctccagt
      121 gccacttccg actttaagcc ttcctgttgc cgtccactgt ggcgggtttc ttcctgggga
      181 acacgttttc gctcagtcgc tcggcagccc gagcctgcgg cagcggccag gcgcctgccc
      241 cctgcgccga gctttcccct gcagaggcgc tccactccca gaagcgccgc ggctgcacca
      301 gagcgcctga gagcccccgc gcgtacccat ccaggagcaa aactatgtca ggaatggagg
      361 tttgctaacc cagaaaattc gaaggaacac attaaactgg tggatgcagc agatgtaagc
      421 gctgtgcaaa catctcaagc cagttcagat gttgctgttt cctcaagttg caggtctatg
      481 gaaatgcagg atctaaccag cccgcatagc cgtctgagtg gtagtagtga atcccccagt
      541 ggccccaaac tcggtaactc tcatataaat agtaattcca tgactcccaa tggcaccgaa
      601 gttaaaacag agccaatgag cagcagtgaa acagcttcaa cgacagccga cgggtcttta
      661 aacaatttct caggttcagc aattgggagc agtagtttca gcccacgacc aactcaccag
      721 ttctctccac cacagattta cccttccaac agaccatacc cacatattct ccctacccct
      781 tcctcacaaa ctatggctgc atatgggcaa acacagttta ccacaggaat gcaacaagct
      841 acagcctatg ccacgtaccc acagccagga cagccgtacg gcatttcctc atatggtgca
      901 ttgtgggcag gcatcaagac tgaaggtgga ttgtcacagt ctcagtcacc tggacagaca
      961 ggatttctca gctatggcac aagcttcagt acccctcaac ctggacaggc accatacagc
     1021 taccagatgc aaggtagcag ttttacaaca tcatcaggaa tatatacagg aaataattca
     1081 ctcacaaatt cctctggatt taatagttca cagcaggact atccgtctta tcccagtttt
     1141 ggccagggtc agtacgcaca gtattataac agctcaccgt atccagcaca ttatatgacc
     1201 agcagcaaca ccagcccaac gacaccatcc accaatgcca cttaccagct tcaagaaccg
     1261 ccatctggca tcaccagcca agcagttaca gatcccacag cagagtacag cacaatccac
     1321 agcccatcaa cacccattaa agattcagat tctgatcgat tgcgtcgagg ttcagatggg
     1381 aaatcacgtg gacggggccg aagaaacaat aatccttcac ctcccccaga ttctgatctt
     1441 gagagagtgt tcatctggga cttggatgag acaatcattg ttttccactc cttgcttact
     1501 gggtcctacg ccaacagata tgggagggat ccacccactt cagtttccct tggactgcga
     1561 atggaagaaa tgattttcaa cttggcagac acacatttat tttttaatga cttagaagaa
     1621 tgtgaccaag tccatataga tgatgtttct tcagatgata acggacagga cctaagcaca
     1681 tataactttg gaacagatgg ctttcctgct gcagcaacca gtgctaactt atgtttggca
     1741 actggtgtac ggggcggtgt ggactggatg agaaagttgg ccttccgcta cagacgggta
     1801 aaagagatct acaacaccta caaaaataat gttggaggtc tgcttggtcc agctaagagg
     1861 gaagcctggc tgcagttgag ggccgaaatt gaagccctga ccgactcctg gttgacactg
     1921 gccctgaaag cactctcgct cattcactcc cggacaaact gtgtgaatat tttagtaaca
     1981 actactcagc tcatcccagc attggcgaaa gtcctgctgt atgggttagg aattgtattt
     2041 ccaatagaaa atatttacag tgcaactaaa ataggaaaag aaagctgttt tgagagaata
     2101 attcaaaggt ttggaagaaa agtggtgtat gttgttatag gagatggtgt agaagaagaa
     2161 caaggagcaa aaaagcacgc gatgcccttc tggaggatct ccagccactc ggacctcatg
     2221 gccctgcacc atgccttgga actggagtac ctgtaacagc gctcggcact ttgacagcgc
     2281 acagctgctc tgtgaccagg gacagatcca gcaggcccca gtctcgcatc agcgccggcc
     2341 tccagaactt agcaatttcc gcctggtgat gcgcagttgc tgtcagtctt gacctctgcc
     2401 tttgtggtga atggaggacc acgtctattt catcagaaca gctgttgact ctagtactgt
     2461 gaatccagtg aaaataagcc atgagaatgt tttagcacag cgttatgtgt ctgccacatt
     2521 aactacacgg ttcaaacctg tgaagaaagg acctgcaaac gcttcagttg ttagcatttt
     2581 caatgtgata taaacagctt ctccaataca gcaaacctaa ttgcacaaca gagactgaaa
     2641 tgtgtttcct gaataccagt ggaggaattt tcttgtaaag aaggtttact ttttggtgtc
     2701 tcatacccag ggtaatctgt acatctctac ttatttatga acagactttt tttaaaaaga
     2761 taaaaaaaca gctttattga ggtataattc acccaccaga cttttttaaa catcaaataa
     2821 ttgaagagac aatagcatta gaaataagtg attaaaggcc tctgcctcac aacatggcaa
     2881 gtacagtact ttgaatttta gcacattgca tagtagtttt aagtatgtct aatttaaacg
     2941 tataatatgt acatcactga gacaatcatg tacagaaaga atttttggtg taaatttgta
     3001 ataatggata attcttttac atattgttta gggaaatgat attgaaaggt agcaatgcct
     3061 ggatagtgaa gcatgaggca gcacgtgcac aaattcatgt gccgtgcctt atctgagttt
     3121 tcggtataaa tatgtagata atggattttt tttttttaga taatgttgtc aagaccaaaa
     3181 gcatggatgt caagtgtcag taaggatttt gttttctaaa attttttcct gcatcagttc
     3241 ttctgagggc cttgatgaaa taacacagca gtttcttaaa caatttgaaa caaaatgagc
     3301 tctcctacca cctcactttt tcatttccac actaatgtat tatatgtaac tacttggaaa
     3361 aaataattat tcaaatgctt cttcccacaa agaatataga tgatagtaga tatattttat
     3421 taataaaatg gttcatgaat cggagactaa caaagttttc atgtgctcag aattattaat
     3481 tatcgtgtct gcattttctt tcgataaagg aagacacacg atgctaatcc ggaaatcagc
     3541 aaactttgca ttactcccta tgtgcgtatt ttctctttct tcctgtcacc ctgaggaagg
     3601 ttcattgcca ttgtcatcac catggaaaca acgttcctct ccacctgcat tatgtactac
     3661 atgacaggca tcaatctggg gaaataataa aattatcacc tttgtcagac cataagagtt
     3721 tctccaaaag tggtcagttt ggctgggcaa tattttctct catctaacaa acacaatcca
     3781 ttgtcatgaa attaccctta ggatgagtct tctttaatca atcatatatt gggcgggaaa
     3841 aacaccagct ttgacccgaa gtagttgaag agctacttca ttcttttctg aagttgtgtg
     3901 ttgctgctag aaatagtcat ttgtgaatta tccaaattgt ttaaattcac aattgaatta
     3961 gttttttctt cctttttgct tgaagcaaac agttgacaat ttttaacctt ttcattttat
     4021 gtttttgtac tctgcagact gaaaagacaa agtttatctt ggccttactg tataaaggtg
     4081 tgctgtgtcc accgttgtgt acagaatttt tcttcattaa ttttgtgttt aagttaataa
     4141 aatttatttg tgatgtactg taa
//
