LOCUS       NM_001413839            2856 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens EGFR pathway substrate 8, signaling adaptor (EPS8),
            transcript variant 10, mRNA.
ACCESSION   NM_001413839
VERSION     NM_001413839.1
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 2856)
  AUTHORS   Yang,G., Su,F., Han,B.X., Su,H.X., Guo,C.H., Yu,S.H., Guan,Q.L. and
            Hou,X.M.
  TITLE     HNF1A induces glioblastoma by upregulating EPS8 and activating
            PI3K/AKT signaling pathway
  JOURNAL   Biochem Pharmacol 223, 116133 (2024)
   PUBMED   38494066
  REMARK    GeneRIF: HNF1A induces glioblastoma by upregulating EPS8 and
            activating PI3K/AKT signaling pathway.
REFERENCE   2  (bases 1 to 2856)
  AUTHORS   Qiu,Y., Xu,B., Feng,J., Wang,C., Chen,Y., He,Y., Xie,X. and Li,Y.
  TITLE     Loss of EPS8 sensitizes non-small-cell lung carcinoma to
            chemotherapy-induced DNA damage
  JOURNAL   Cancer Gene Ther 30 (7), 997-1006 (2023)
   PUBMED   36932195
  REMARK    GeneRIF: Loss of EPS8 sensitizes non-small-cell lung carcinoma to
            chemotherapy-induced DNA damage.
REFERENCE   3  (bases 1 to 2856)
  AUTHORS   Pollock,G.L., Grishin,A.M., Giogha,C., Gan,J., Oates,C.V.,
            McMillan,P.J., Gaeta,I., Tyska,M.J., Pearson,J.S., Scott,N.E.,
            Cygler,M. and Hartland,E.L.
  TITLE     Targeting of microvillus protein Eps8 by the NleH effector kinases
            from enteropathogenic E. coli
  JOURNAL   Proc Natl Acad Sci U S A 119 (34), e2204332119 (2022)
   PUBMED   35976880
  REMARK    GeneRIF: Targeting of microvillus protein Eps8 by the NleH effector
            kinases from enteropathogenic E. coli.
REFERENCE   4  (bases 1 to 2856)
  AUTHORS   Salokas,K., Liu,X., Ohman,T., Chowdhury,I., Gawriyski,L.,
            Keskitalo,S. and Varjosalo,M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   5  (bases 1 to 2856)
  AUTHORS   Yu,S., Chen,W.X., Zhang,Y.F., Ni,Y., Lu,P., Wang,B., Wang,Y.,
            Wu,B., Ni,Q., Wang,H. and Xu,Z.M.
  TITLE     Apparent homozygosity for a novel splicing variant in EPS8 causes
            congenital profound hearing loss
  JOURNAL   Eur J Med Genet 64 (12), 104362 (2021)
   PUBMED   34637946
  REMARK    GeneRIF: Apparent homozygosity for a novel splicing variant in EPS8
            causes congenital profound hearing loss.
REFERENCE   6  (bases 1 to 2856)
  AUTHORS   Avantaggiato,V., Torino,A., Wong,W.T., Di Fiore,P.P. and Simeone,A.
  TITLE     Expression of the receptor tyrosine kinase substrate genes eps8 and
            eps15 during mouse development
  JOURNAL   Oncogene 11 (6), 1191-1198 (1995)
   PUBMED   7566980
REFERENCE   7  (bases 1 to 2856)
  AUTHORS   Matoskova,B., Wong,W.T., Salcini,A.E., Pelicci,P.G. and Di
            Fiore,P.P.
  TITLE     Constitutive phosphorylation of eps8 in tumor cell lines: relevance
            to malignant transformation
  JOURNAL   Mol Cell Biol 15 (7), 3805-3812 (1995)
   PUBMED   7791787
REFERENCE   8  (bases 1 to 2856)
  AUTHORS   Karlsson,T., Songyang,Z., Landgren,E., Lavergne,C., Di Fiore,P.P.,
            Anafi,M., Pawson,T., Cantley,L.C., Claesson-Welsh,L. and Welsh,M.
  TITLE     Molecular interactions of the Src homology 2 domain protein Shb
            with phosphotyrosine residues, tyrosine kinase receptors and Src
            homology 3 domain proteins
  JOURNAL   Oncogene 10 (8), 1475-1483 (1995)
   PUBMED   7537362
REFERENCE   9  (bases 1 to 2856)
  AUTHORS   Castagnino,P., Biesova,Z., Wong,W.T., Fazioli,F., Gill,G.N. and Di
            Fiore,P.P.
  TITLE     Direct binding of eps8 to the juxtamembrane domain of EGFR is
            phosphotyrosine- and SH2-independent
  JOURNAL   Oncogene 10 (4), 723-729 (1995)
   PUBMED   7532293
REFERENCE   10 (bases 1 to 2856)
  AUTHORS   Cardwell,C.
  TITLE     Student or worker? International Meeting of Student Nurses
            (European Group)
  JOURNAL   Nurs Mirror Midwives J 143 (19), 38 (1976)
   PUBMED   1049958
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073651.23 and AC092753.9.
            
            Summary: This gene encodes a member of the EPS8 family. This
            protein contains one PH domain and one SH3 domain. It functions as
            part of the EGFR pathway, though its exact role has not been
            determined. Highly similar proteins in other organisms are involved
            in the transduction of signals from Ras to Rac and growth
            factor-mediated actin remodeling. Alternate transcriptional splice
            variants of this gene have been observed but have not been
            thoroughly characterized. [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038197.723570.1,
                                           SRR3476690.238172.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-228               AC073651.23        94631-94858         c
            229-308             AC092753.9         13559-13638
            309-385             AC092753.9         15229-15305
            386-453             AC092753.9         25608-25675
            454-615             AC092753.9         26706-26867
            616-765             AC092753.9         26995-27144
            766-848             AC092753.9         30009-30091
            849-985             AC092753.9         30639-30775
            986-1059            AC092753.9         34432-34505
            1060-1186           AC092753.9         35791-35917
            1187-1275           AC092753.9         37946-38034
            1276-1350           AC092753.9         38378-38452
            1351-1499           AC092753.9         42238-42386
            1500-2856           AC092753.9         45525-46881
FEATURES             Location/Qualifiers
     source          1..2856
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..2856
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="EGFR pathway substrate 8, signaling adaptor"
                     /db_xref="GeneID:2059"
                     /db_xref="HGNC:HGNC:3420"
                     /db_xref="MIM:600206"
     exon            1..228
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            229..308
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     CDS             250..1803
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="isoform f is encoded by transcript variant 10;
                     epidermal growth factor receptor kinase substrate 8;
                     epidermal growth factor receptor pathway substrate 8"
                     /codon_start=1
                     /product="epidermal growth factor receptor kinase
                     substrate 8 isoform f"
                     /protein_id="NP_001400768.1"
                     /db_xref="GeneID:2059"
                     /db_xref="HGNC:HGNC:3420"
                     /db_xref="MIM:600206"
                     /translation="MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKAL
                     YEQRKNYARDSVSSVSDISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWT
                     QDMILQVDDRAVSLIDLESKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNK
                     PDLHLFQCDEVKANLISEDIESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAP
                     APPGTVTQVDVRSRVAAWSAWAADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHI
                     LDDIEFFITKLQKAAEAFSELSKRKKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQK
                     FKHGFNLLAKLKSHIQNPSAADLVHFLFTPLNMVVQATGGPELASSVLSPLLNKDTID
                     FLNYTVNGDERQLWMSLGGTWMKARAEWPKEQFIPPYVPRFRNGWEPPMLNFMGATME
                     QDLYQLAESVANVAEHQRKQEIKRLSTEVVFFLTLPSVDSVIICVFSCNSDCKFSFYS
                     TENCSRIKV"
     exon            309..385
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            386..453
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            454..615
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            616..765
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            766..848
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            849..985
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1059
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1060..1186
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1275
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..1350
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1499
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..2856
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2831..2836
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="hexamer: AATAAA"
     polyA_site      2856
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="major polyA site"
ORIGIN      
        1 agacttcaca ggcagcagct agcgaggcgg tctcgcccgg cgcgaggccg gcgctgtgct
       61 cgcctcggag atcgctgctc tttagctggg tgcagaaggc ggctccgcgg ctcgcggacg
      121 actggctggg cgcgaatcag attggggggc tttctcccgg tcccctccca cctcgtctgg
      181 gctcgcggcg tctccgggga aagccgtggc cccgagggcg gatccgagaa cacacaagtg
      241 aaagacacaa tgaatggtca tatttctaat catcccagta gttttggaat gtacccatct
      301 cagatgaatg gctacggatc atcacctacc ttttcccaga cggacagaga acatggttca
      361 aaaacaagtg caaaggccct ttatgaacaa aggaagaatt atgcacggga cagtgtcagc
      421 agtgtgtcag atatatctca ataccgtgtt gaacacttga ctacctttgt cctggatcgg
      481 aaagatgcta tgatcactgt tgatgatgga ataaggaaat tgaaattgct tgatgccaag
      541 ggcaaagtgt ggactcaaga tatgattctt caagtggatg acagagctgt gagcctgatt
      601 gatttagaat caaagaatga actggagaat tttcctttaa acacaatcca gcactgccaa
      661 gctgtgatgc attcatgcag ctatgattca gttcttgcac tggtgtgcaa agagccaacc
      721 cagaacaagc cagatcttca tctcttccag tgtgatgagg ttaaggcaaa cctaattagt
      781 gaagatattg aaagtgcaat cagtgacagt aaaggaggga aacagaagag gcggcccgac
      841 gccctgagga tgatttccaa tgcagaccct agtataccgc ctccacccag agctcctgcc
      901 cctgcgcccc ctgggaccgt cacccaggtg gatgttagaa gtcgagtggc agcctggtct
      961 gcatgggcag ccgaccaagg ggactttgag aaaccaaggc agtatcatga gcaggaagaa
     1021 acacctgaga tgatggcagc ccgcattgac agagatgtgc aaatcttaaa ccacattttg
     1081 gatgacattg aattttttat cacaaaactc caaaaagcag cagaagcatt ttctgagctt
     1141 tctaaaagga agaaaaacaa gaaaggtaaa aggaaaggac caggagaggg tgttttaacg
     1201 ctgcgggcaa aacctccacc tcctgatgaa tttcttgact gtttccaaaa gtttaaacac
     1261 ggatttaacc ttctggccaa actgaagtct catattcaga atcctagtgc tgcagatttg
     1321 gttcactttt tgtttactcc attaaatatg gtggtgcagg caacaggagg tcctgaacta
     1381 gccagttcag tacttagtcc cctattgaat aaggacacaa ttgatttctt aaattatact
     1441 gtcaatggtg atgaacggca gctgtggatg tcattgggag gaacttggat gaaagccaga
     1501 gcagagtggc caaaagaaca gtttattcca ccatatgttc cacgattccg caatggctgg
     1561 gagcccccaa tgctgaactt tatgggagcc acaatggaac aagatcttta tcaactggca
     1621 gaatctgtgg caaatgtagc agaacatcag cgcaaacagg aaataaaaag attatccaca
     1681 gaggtagttt tttttttaac attgccctct gtagacagtg taattatctg tgtattctct
     1741 tgtaattctg attgcaagtt ctcattttat tcaactgaaa attgttctag aatcaaagtc
     1801 tgaatgttac cctgtcctga attacctctc tctcttgcct ctgtcatttt ttgtgacagt
     1861 tgctctgttc ctccgtgaag cccaacccca acccaaattg ctctcctata gcctgtcagc
     1921 ccccacccct ccccttgttg ccactgtttt cctggctctg gcgatcctaa gtcagctttt
     1981 ttaggatgac tttctctcct tgtcagggaa ttgcactact gccctttggc ttatttcttt
     2041 atgttttcct ctcccattat caggccctca agacagttcc ctgaacctag atcctctaac
     2101 ctgtcttaag cagctgtttc ctgaattccc ccagttaatt aatttctctc cttctcttca
     2161 cgttgctttg cctctcttct cctctgtttg ttttctttct tcccttttgc ctagttctaa
     2221 aactctggag tcctatcagc cttgctagag ggcccaagtt cttctgcact ctagtcctta
     2281 ggctcaaatg atcatttata aaactacacc ttgaggagat cttaacattc attttatctt
     2341 ttaagtattt aataatattt agagtataac ctatttggga atcaagttga gggaatgaaa
     2401 ttgagtatgc tgttttgtca cattccctaa aagtgatgtt tctatgactc ttcttgtttg
     2461 ttggaaaaga acattgaaca ttgattaaag ctggaccaaa cacaaatagg atgatcagaa
     2521 cccgaagagt taggtgaatg agatctagtt tgaagaagaa acagtaaatg atgactagat
     2581 cttcccgaaa tcctattatt tttatttaat tccttagatt aattttctca gactatcata
     2641 ggtatttata atgtggcaaa tatgttatga gggaatgaat tgtcaaacca tggtgtatta
     2701 tatcctgtga ctgcttttaa ggggaaatgt ttatctaaat taaattttaa aaattgttcc
     2761 ctttgtggac tattctttgg acaataaaaa taatattata gaagtttggt tgaattcctg
     2821 aaactttaaa aataaagcaa acatattact ttgaaa
//
