LOCUS       NM_001413835            3824 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens EGFR pathway substrate 8, signaling adaptor (EPS8),
            transcript variant 6, mRNA.
ACCESSION   NM_001413835
VERSION     NM_001413835.1
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 3824)
  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 3824)
  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 3824)
  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 3824)
  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 3824)
  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 3824)
  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 3824)
  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 3824)
  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 3824)
  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 3824)
  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 :: SRR1660807.33919.1,
                                           SRR1803615.91199.1 [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
            309-376             AC092753.9         25608-25675
            377-538             AC092753.9         26706-26867
            539-688             AC092753.9         26995-27144
            689-771             AC092753.9         30009-30091
            772-908             AC092753.9         30639-30775
            909-982             AC092753.9         34432-34505
            983-1109            AC092753.9         35791-35917
            1110-1198           AC092753.9         37946-38034
            1199-1273           AC092753.9         38378-38452
            1274-1422           AC092753.9         42238-42386
            1423-1606           AC092753.9         45525-45708
            1607-1740           AC092753.9         49271-49404
            1741-1849           AC092753.9         54701-54809
            1850-1993           AC092753.9         55685-55828
            1994-2216           AC092753.9         64867-65089
            2217-2397           AC092753.9         72124-72304
            2398-2527           AC092753.9         73244-73373
            2528-3824           AC092753.9         75101-76397
FEATURES             Location/Qualifiers
     source          1..3824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..3824
                     /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"
     exon            309..376
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            377..538
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     CDS             413..2641
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="isoform c is encoded by transcript variant 6;
                     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 c"
                     /protein_id="NP_001400764.1"
                     /db_xref="GeneID:2059"
                     /db_xref="HGNC:HGNC:3420"
                     /db_xref="MIM:600206"
                     /translation="MITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLESKNE
                     LENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNKPDLHLFQCDEVKANLISEDIES
                     AISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWA
                     ADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELS
                     KRKKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAAD
                     LVHFLFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWM
                     KARAEWPKEQFIPPYVPRFRNGWEPPMLNFMGATMEQDLYQLAESVANVAEHQRKQEI
                     KRLSTEHSSVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNYEPLKT
                     QPKKYAKSKYDFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIV
                     RPPESGLGRADPPYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVP
                     VSKVPANITRQNSSSSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTIGRSA
                     AQKKFHVPRQNVPVINITYDSTPEDVKTWLQSKGFNPVTVNSLGVLNGAQLFSLNKDE
                     LRTVCPEGARVYSQITVQKAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGS
                     SH"
     exon            539..688
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            689..771
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            772..908
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            909..982
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1109
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1198
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1273
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..1422
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..1606
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1740
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..1849
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1850..1993
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1994..2216
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2397
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            2398..2527
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            2528..3824
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3771..3776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="hexamer: AATAAA"
     regulatory      3795..3800
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="hexamer: AATAAA"
     polyA_site      3796
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="major polyA site"
     polyA_site      3824
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
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 cagatgaaaa caaaggaaga attatgcacg ggacagtgtc agcagtgtgt cagatatatc
      361 tcaataccgt gttgaacact tgactacctt tgtcctggat cggaaagatg ctatgatcac
      421 tgttgatgat ggaataagga aattgaaatt gcttgatgcc aagggcaaag tgtggactca
      481 agatatgatt cttcaagtgg atgacagagc tgtgagcctg attgatttag aatcaaagaa
      541 tgaactggag aattttcctt taaacacaat ccagcactgc caagctgtga tgcattcatg
      601 cagctatgat tcagttcttg cactggtgtg caaagagcca acccagaaca agccagatct
      661 tcatctcttc cagtgtgatg aggttaaggc aaacctaatt agtgaagata ttgaaagtgc
      721 aatcagtgac agtaaaggag ggaaacagaa gaggcggccc gacgccctga ggatgatttc
      781 caatgcagac cctagtatac cgcctccacc cagagctcct gcccctgcgc cccctgggac
      841 cgtcacccag gtggatgtta gaagtcgagt ggcagcctgg tctgcatggg cagccgacca
      901 aggggacttt gagaaaccaa ggcagtatca tgagcaggaa gaaacacctg agatgatggc
      961 agcccgcatt gacagagatg tgcaaatctt aaaccacatt ttggatgaca ttgaattttt
     1021 tatcacaaaa ctccaaaaag cagcagaagc attttctgag ctttctaaaa ggaagaaaaa
     1081 caagaaaggt aaaaggaaag gaccaggaga gggtgtttta acgctgcggg caaaacctcc
     1141 acctcctgat gaatttcttg actgtttcca aaagtttaaa cacggattta accttctggc
     1201 caaactgaag tctcatattc agaatcctag tgctgcagat ttggttcact ttttgtttac
     1261 tccattaaat atggtggtgc aggcaacagg aggtcctgaa ctagccagtt cagtacttag
     1321 tcccctattg aataaggaca caattgattt cttaaattat actgtcaatg gtgatgaacg
     1381 gcagctgtgg atgtcattgg gaggaacttg gatgaaagcc agagcagagt ggccaaaaga
     1441 acagtttatt ccaccatatg ttccacgatt ccgcaatggc tgggagcccc caatgctgaa
     1501 ctttatggga gccacaatgg aacaagatct ttatcaactg gcagaatctg tggcaaatgt
     1561 agcagaacat cagcgcaaac aggaaataaa aagattatcc acagagcatt ccagtgtatc
     1621 agagtatcat ccagccgatg gctatgcgtt cagtagcaac atttacacaa gaggatccca
     1681 cctggaccaa ggggaagctg ctgttgcttt taagccaact tctaatcgcc atatagatag
     1741 aaattatgaa ccactcaaaa cacaacccaa gaaatatgcc aaatccaagt atgactttgt
     1801 agcaaggaac aacagtgagc tctcggttct aaaggatgat attttagaga tacttgatga
     1861 tcggaagcaa tggtggaaag ttcgaaatgc aagtggagac tctggatttg tgccaaataa
     1921 cattttggat attgtgagac ctccagaatc tggattgggg cgtgctgatc caccttatac
     1981 tcatactata cagaaacaaa ggatggagta tggcccaaga ccagctgata ctccccctgc
     2041 tccatcacct cctccaacac cagctcctgt tcctgttccc cttccccctt ccactccagc
     2101 acctgttcct gtgtcaaagg tcccagcaaa tataacacgt caaaacagca gctccagtga
     2161 cagtggtggc agtatcgtgc gagacagcca gagacacaaa caacttccgg tggaccgaag
     2221 gaaatctcag atggaggaag tgcaagatga actcatccac agactgacca ttggtcggag
     2281 tgccgctcag aagaaattcc atgtgccacg gcagaacgtg ccagttatca atatcactta
     2341 cgactccaca ccagaggatg tgaagacgtg gttacagtca aagggattca accctgtgac
     2401 tgtcaatagt cttggagtat taaatggtgc acaacttttc tctctcaata aggatgaact
     2461 gaggacagtc tgccctgaag gggcgagagt ctatagccaa atcactgtac aaaaagctgc
     2521 attggaggat agcagtggca gctccgagtt acaagaaatt atgagaagac gacaggaaaa
     2581 aatcagtgct gccgctagtg attcaggagt ggaatctttt gatgaaggaa gcagtcacta
     2641 atttgtttgt ttgtatttaa actccattgt ttttggcatt attccaacat gctttgtttt
     2701 aagaagcctt gaagggaatg tcagattcat ttttcttgat gtaatttatc accataaaaa
     2761 aaaacccatg caaacctgag tgagcacagg atttgcttct aggcccatta tttttattaa
     2821 aactgaaaaa atttaaactg aattttttga ccttggaaaa tatttttctt actttaccaa
     2881 ggtgaagttt ccttaattag actaattatt ttatccccat cccagggtat aaacaggaat
     2941 tgttttgata gtggtggagt tattcactgc aacaaagcaa caatgttgtc catgattcaa
     3001 aatctaagca gtttcgattt tgcctgtgaa tatggtgtct gtcattcagg gcatagctca
     3061 ctgtaggcta gcctctgctt acttaagtct cttctctgac atactcaatg gaagaatatt
     3121 tagatttatt taaagttctt aatgccaaca gtttaaaaaa aaattaaaac atttgaatga
     3181 actgtaaagt acagccatac cttggacatg caaatataaa tctatggagc attctcaaga
     3241 gagtttgtca tggctctgtt gattgcaact ccttgtatag cttgtatttt gatttagttt
     3301 atattctgct tattatgtat actgtgttct tatatatgag aaagcacaaa tgcgaaagag
     3361 gtcatgtctt ctcaaaatct agcaaaggaa gtagtctgca ttggtgtgca ttacagtatt
     3421 ttgcttaatg aaagcctcag ttctgaatgt tgatatgagt agttaaaagg aagtggggcc
     3481 attttatgtg tttatctgtg tcaagtattt ctggtaataa gaagcactta atttacacat
     3541 attttaatcc tgtgaaagat tccacataga gaaaagaaag atacctaacc ttcaacaaat
     3601 gttatttttg gaaacacaat ttttgtcatt aaatgttata ttatttcaca tatataaaac
     3661 agatgttatg taagaatgtt gtatatttta acataaatca tttagagaaa ttatctagat
     3721 tcattaattt tcatagtgcc tttttcacat gagtcagctg gaaagtctgc aataaacagt
     3781 atttgctgtc tgttaataaa tggtttctgt ctcattagca aaaa
//
