LOCUS       NM_001413833            3721 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens EGFR pathway substrate 8, signaling adaptor (EPS8),
            transcript variant 4, mRNA.
ACCESSION   NM_001413833 XM_024448880
VERSION     NM_001413833.1
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 3721)
  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 3721)
  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 3721)
  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 3721)
  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 3721)
  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 3721)
  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 3721)
  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 3721)
  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 3721)
  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 3721)
  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.
            
            On Nov 9, 2022 this sequence version replaced XM_024448880.2.
            
            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 :: AK292931.1, SRR11853562.6961.1
                                           [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
            1-48                AC073651.23        18323-18370         c
            49-128              AC092753.9         13559-13638
            129-205             AC092753.9         15229-15305
            206-273             AC092753.9         25608-25675
            274-435             AC092753.9         26706-26867
            436-585             AC092753.9         26995-27144
            586-668             AC092753.9         30009-30091
            669-805             AC092753.9         30639-30775
            806-879             AC092753.9         34432-34505
            880-1006            AC092753.9         35791-35917
            1007-1095           AC092753.9         37946-38034
            1096-1170           AC092753.9         38378-38452
            1171-1319           AC092753.9         42238-42386
            1320-1503           AC092753.9         45525-45708
            1504-1637           AC092753.9         49271-49404
            1638-1746           AC092753.9         54701-54809
            1747-1890           AC092753.9         55685-55828
            1891-2113           AC092753.9         64867-65089
            2114-2294           AC092753.9         72124-72304
            2295-2424           AC092753.9         73244-73373
            2425-3721           AC092753.9         75101-76397
FEATURES             Location/Qualifiers
     source          1..3721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..3721
                     /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..48
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            49..128
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..2538
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="isoform b is encoded by transcript variant 4;
                     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 b"
                     /protein_id="NP_001400762.1"
                     /db_xref="GeneID:2059"
                     /db_xref="HGNC:HGNC:3420"
                     /db_xref="MIM:600206"
                     /translation="MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKAL
                     YEQRKNYARDSVSSVSDISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWT
                     QDMILQVDDRAVSLIDLESKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNK
                     PDLHLFQCDEVKANLISEDIESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAP
                     APPGTVTQVDVRSRVAAWSAWAADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHI
                     LDDIEFFITKLQKAAEAFSELSKRKKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQK
                     FKHGFNLLAKLKSHIQNPSAADLVHFLFTPLNMVVQATGGPELASSVLSPLLNKDTID
                     FLNYTVNGDERQLWMSLGGTWMKARAEWPKEQFIPPYVPRFRNGWEPPMLNFMGATME
                     QDLYQLAESVANVAEHQRKQEIKRLSTEHSSVSEYHPADGYAFSSNIYTRGSHLDQGE
                     AAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKYDFVARNNSELSVLKDDILEILDDRKQ
                     WWKVRNASGDSGFVPNNILDIVRPPESGLGRADPPYTHTIQKQRMEYGPRPADTPPAP
                     SPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSSSSDSGGSIVRDSQRHKQLPVDR
                     RKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVINITYDSTPEDVKTWLQSKGFN
                     PVTVNSLGVLNGAQLFSLNKDELRTVCPEGARVYSQITVQKAALEDSSGSSELQEIMR
                     RRQEKISAAASDSGVESFDEGSSH"
     exon            129..205
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            206..273
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            274..435
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            436..585
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            586..668
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            669..805
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            806..879
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            880..1006
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1095
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1170
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1319
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1503
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..1637
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..1746
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1890
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            1891..2113
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            2114..2294
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            2295..2424
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     exon            2425..3721
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3668..3673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="hexamer: AATAAA"
     regulatory      3692..3697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="hexamer: AATAAA"
     polyA_site      3693
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /note="major polyA site"
     polyA_site      3721
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
ORIGIN      
        1 aatattgcct ggacgattgc ttagaggagt atttcctgaa ctgtgtggaa cacacaagtg
       61 aaagacacaa tgaatggtca tatttctaat catcccagta gttttggaat gtacccatct
      121 cagatgaatg gctacggatc atcacctacc ttttcccaga cggacagaga acatggttca
      181 aaaacaagtg caaaggccct ttatgaacaa aggaagaatt atgcacggga cagtgtcagc
      241 agtgtgtcag atatatctca ataccgtgtt gaacacttga ctacctttgt cctggatcgg
      301 aaagatgcta tgatcactgt tgatgatgga ataaggaaat tgaaattgct tgatgccaag
      361 ggcaaagtgt ggactcaaga tatgattctt caagtggatg acagagctgt gagcctgatt
      421 gatttagaat caaagaatga actggagaat tttcctttaa acacaatcca gcactgccaa
      481 gctgtgatgc attcatgcag ctatgattca gttcttgcac tggtgtgcaa agagccaacc
      541 cagaacaagc cagatcttca tctcttccag tgtgatgagg ttaaggcaaa cctaattagt
      601 gaagatattg aaagtgcaat cagtgacagt aaaggaggga aacagaagag gcggcccgac
      661 gccctgagga tgatttccaa tgcagaccct agtataccgc ctccacccag agctcctgcc
      721 cctgcgcccc ctgggaccgt cacccaggtg gatgttagaa gtcgagtggc agcctggtct
      781 gcatgggcag ccgaccaagg ggactttgag aaaccaaggc agtatcatga gcaggaagaa
      841 acacctgaga tgatggcagc ccgcattgac agagatgtgc aaatcttaaa ccacattttg
      901 gatgacattg aattttttat cacaaaactc caaaaagcag cagaagcatt ttctgagctt
      961 tctaaaagga agaaaaacaa gaaaggtaaa aggaaaggac caggagaggg tgttttaacg
     1021 ctgcgggcaa aacctccacc tcctgatgaa tttcttgact gtttccaaaa gtttaaacac
     1081 ggatttaacc ttctggccaa actgaagtct catattcaga atcctagtgc tgcagatttg
     1141 gttcactttt tgtttactcc attaaatatg gtggtgcagg caacaggagg tcctgaacta
     1201 gccagttcag tacttagtcc cctattgaat aaggacacaa ttgatttctt aaattatact
     1261 gtcaatggtg atgaacggca gctgtggatg tcattgggag gaacttggat gaaagccaga
     1321 gcagagtggc caaaagaaca gtttattcca ccatatgttc cacgattccg caatggctgg
     1381 gagcccccaa tgctgaactt tatgggagcc acaatggaac aagatcttta tcaactggca
     1441 gaatctgtgg caaatgtagc agaacatcag cgcaaacagg aaataaaaag attatccaca
     1501 gagcattcca gtgtatcaga gtatcatcca gccgatggct atgcgttcag tagcaacatt
     1561 tacacaagag gatcccacct ggaccaaggg gaagctgctg ttgcttttaa gccaacttct
     1621 aatcgccata tagatagaaa ttatgaacca ctcaaaacac aacccaagaa atatgccaaa
     1681 tccaagtatg actttgtagc aaggaacaac agtgagctct cggttctaaa ggatgatatt
     1741 ttagagatac ttgatgatcg gaagcaatgg tggaaagttc gaaatgcaag tggagactct
     1801 ggatttgtgc caaataacat tttggatatt gtgagacctc cagaatctgg attggggcgt
     1861 gctgatccac cttatactca tactatacag aaacaaagga tggagtatgg cccaagacca
     1921 gctgatactc cccctgctcc atcacctcct ccaacaccag ctcctgttcc tgttcccctt
     1981 cccccttcca ctccagcacc tgttcctgtg tcaaaggtcc cagcaaatat aacacgtcaa
     2041 aacagcagct ccagtgacag tggtggcagt atcgtgcgag acagccagag acacaaacaa
     2101 cttccggtgg accgaaggaa atctcagatg gaggaagtgc aagatgaact catccacaga
     2161 ctgaccattg gtcggagtgc cgctcagaag aaattccatg tgccacggca gaacgtgcca
     2221 gttatcaata tcacttacga ctccacacca gaggatgtga agacgtggtt acagtcaaag
     2281 ggattcaacc ctgtgactgt caatagtctt ggagtattaa atggtgcaca acttttctct
     2341 ctcaataagg atgaactgag gacagtctgc cctgaagggg cgagagtcta tagccaaatc
     2401 actgtacaaa aagctgcatt ggaggatagc agtggcagct ccgagttaca agaaattatg
     2461 agaagacgac aggaaaaaat cagtgctgcc gctagtgatt caggagtgga atcttttgat
     2521 gaaggaagca gtcactaatt tgtttgtttg tatttaaact ccattgtttt tggcattatt
     2581 ccaacatgct ttgttttaag aagccttgaa gggaatgtca gattcatttt tcttgatgta
     2641 atttatcacc ataaaaaaaa acccatgcaa acctgagtga gcacaggatt tgcttctagg
     2701 cccattattt ttattaaaac tgaaaaaatt taaactgaat tttttgacct tggaaaatat
     2761 ttttcttact ttaccaaggt gaagtttcct taattagact aattatttta tccccatccc
     2821 agggtataaa caggaattgt tttgatagtg gtggagttat tcactgcaac aaagcaacaa
     2881 tgttgtccat gattcaaaat ctaagcagtt tcgattttgc ctgtgaatat ggtgtctgtc
     2941 attcagggca tagctcactg taggctagcc tctgcttact taagtctctt ctctgacata
     3001 ctcaatggaa gaatatttag atttatttaa agttcttaat gccaacagtt taaaaaaaaa
     3061 ttaaaacatt tgaatgaact gtaaagtaca gccatacctt ggacatgcaa atataaatct
     3121 atggagcatt ctcaagagag tttgtcatgg ctctgttgat tgcaactcct tgtatagctt
     3181 gtattttgat ttagtttata ttctgcttat tatgtatact gtgttcttat atatgagaaa
     3241 gcacaaatgc gaaagaggtc atgtcttctc aaaatctagc aaaggaagta gtctgcattg
     3301 gtgtgcatta cagtattttg cttaatgaaa gcctcagttc tgaatgttga tatgagtagt
     3361 taaaaggaag tggggccatt ttatgtgttt atctgtgtca agtatttctg gtaataagaa
     3421 gcacttaatt tacacatatt ttaatcctgt gaaagattcc acatagagaa aagaaagata
     3481 cctaaccttc aacaaatgtt atttttggaa acacaatttt tgtcattaaa tgttatatta
     3541 tttcacatat ataaaacaga tgttatgtaa gaatgttgta tattttaaca taaatcattt
     3601 agagaaatta tctagattca ttaattttca tagtgccttt ttcacatgag tcagctggaa
     3661 agtctgcaat aaacagtatt tgctgtctgt taataaatgg tttctgtctc attagcaaaa
     3721 a
//
