LOCUS       NM_133180               2569 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens EPS8 signaling adaptor L1 (EPS8L1), transcript variant
            1, mRNA.
ACCESSION   NM_133180
VERSION     NM_133180.3
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 2569)
  AUTHORS   Alibardi,L., Surbek,M. and Eckhart,L.
  TITLE     Comparative immunohistochemical analysis suggests a conserved role
            of EPS8L1 in epidermal and hair follicle barriers of mammals
  JOURNAL   Protoplasma 261 (2), 333-349 (2024)
   PUBMED   37889356
  REMARK    GeneRIF: Comparative immunohistochemical analysis suggests a
            conserved role of EPS8L1 in epidermal and hair follicle barriers of
            mammals.
REFERENCE   2  (bases 1 to 2569)
  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   3  (bases 1 to 2569)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2569)
  AUTHORS   Kleino,I., Jarviluoma,A., Hepojoki,J., Huovila,A.P. and Saksela,K.
  TITLE     Preferred SH3 domain partners of ADAM metalloproteases include
            shared and ADAM-specific SH3 interactions
  JOURNAL   PLoS One 10 (3), e0121301 (2015)
   PUBMED   25825872
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2569)
  AUTHORS   Guo,Z., Neilson,L.J., Zhong,H., Murray,P.S., Zanivan,S. and
            Zaidel-Bar,R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2569)
  AUTHORS   Kesti,T., Ruppelt,A., Wang,J.H., Liss,M., Wagner,R., Tasken,K. and
            Saksela,K.
  TITLE     Reciprocal regulation of SH3 and SH2 domain binding via tyrosine
            phosphorylation of a common site in CD3epsilon
  JOURNAL   J Immunol 179 (2), 878-885 (2007)
   PUBMED   17617578
REFERENCE   7  (bases 1 to 2569)
  AUTHORS   Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
            Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
            Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
            Gu,J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   8  (bases 1 to 2569)
  AUTHORS   Offenhauser,N., Borgonovo,A., Disanza,A., Romano,P., Ponzanelli,I.,
            Iannolo,G., Di Fiore,P.P. and Scita,G.
  TITLE     The eps8 family of proteins links growth factor stimulation to
            actin reorganization generating functional redundancy in the
            Ras/Rac pathway
  JOURNAL   Mol Biol Cell 15 (1), 91-98 (2004)
   PUBMED   14565974
  REMARK    Erratum:[Mol Biol Cell. 2019 Sep 1;30(19):2535. doi:
            10.1091/mbc.E03-06-0427-corr.. PMID: 31465253]
REFERENCE   9  (bases 1 to 2569)
  AUTHORS   Tocchetti,A., Confalonieri,S., Scita,G., Di Fiore,P.P. and
            Betsholtz,C.
  TITLE     In silico analysis of the EPS8 gene family: genomic organization,
            expression profile, and protein structure
  JOURNAL   Genomics 81 (2), 234-244 (2003)
   PUBMED   12620401
REFERENCE   10 (bases 1 to 2569)
  AUTHORS   Wu,K., Xu,Z., Wang,M., Xu,X., Han,Y., Cao,Y., Wang,R., Sun,Y. and
            Wu,M.
  TITLE     [Cloning and expression analyses of down-regulated cDNA C6-2A in
            human esophageal cancer]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16 (5), 325-327 (1999)
   PUBMED   10514543
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA452167.1, AK075098.1,
            BC015763.1 and AF370395.1.
            
            On Nov 23, 2018 this sequence version replaced NM_133180.2.
            
            Summary: This gene encodes a protein that is related to epidermal
            growth factor receptor pathway substrate 8 (EPS8), a substrate for
            the epidermal growth factor receptor. The function of this protein
            is unknown. At least two alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: AF370395.1, AK075098.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000201647.11/ ENSP00000201647.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-493               DA452167.1         17-509
            494-2093            AK075098.1         461-2060
            2094-2343           BC015763.1         1696-1945
            2344-2569           AF370395.1         2312-2537
FEATURES             Location/Qualifiers
     source          1..2569
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2569
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /note="EPS8 signaling adaptor L1"
                     /db_xref="GeneID:54869"
                     /db_xref="HGNC:HGNC:21295"
                     /db_xref="MIM:614987"
     exon            1..51
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            52..105
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..2260
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /note="isoform a is encoded by transcript variant 1;
                     epidermal growth factor receptor pathway substrate
                     8-related protein 1; down-regulated in esophageal cancer
                     cDNA 3; EPS8-related protein 1; epidermal growth factor
                     receptor kinase substrate 8-like protein 1; EPS8-like
                     protein 1; EPS8 like 1"
                     /codon_start=1
                     /product="epidermal growth factor receptor kinase
                     substrate 8-like protein 1 isoform a"
                     /protein_id="NP_573441.2"
                     /db_xref="CCDS:CCDS12914.1"
                     /db_xref="GeneID:54869"
                     /db_xref="HGNC:HGNC:21295"
                     /db_xref="MIM:614987"
                     /translation="MSTATGPEAAPKPSAKSIYEQRKRYSTVVMADVSQYPVNHLVTF
                     CLGEDDGVHTVEDASRKLAVMDSQGRVWAQEMLLRVSPDHVTLLDPASKEELESYPLG
                     AIVRCDAVMPPGRSRSLLLLVCQEPERAQPDVHFFQGLRLGAELIREDIQGALHNYRS
                     GRGERRAAALRATQEELQRDRSPAAETPPLQRRPSVRAVISTVERGAGRGRPQAKPIP
                     EAEEAQRPEPVGTSSNADSASPDLGPRGPDLAVLQAEREVDILNHVFDDVESFVSRLQ
                     KSAEAARVLEHRERGRRSRRRAAGEGLLTLRAKPPSEAEYTDVLQKIKYAFSLLARLR
                     GNIADPSSPELLHFLFGPLQMIVNTSGGPEFASSVRRPHLTSDAVALLRDNVTPRENE
                     LWTSLGDSWTRPGLELSPEEGPPYRPEFFSGWEPPVTDPQSRAWEDPVEKQLQHERRR
                     RQQSAPQVAVNGHRDLEPESEPQLESETAGKWVLCNYDFQARNSSELSVKQRDVLEVL
                     DDSRKWWKVRDPAGQEGYVPYNILTPYPGPRLHHSQSPARSLNSTPPPPPAPAPAPPP
                     ALARPRWDRPRWDSCDSLNGLDPSEKEKFSQMLIVNEELQARLAQGRSGPSRAVPGPR
                     APEPQLSPGSDASEVRAWLQAKGFSSGTVDALGVLTGAQLFSLQKEELRAVSPEEGAR
                     VYSQVTVQRSLLEDKEKVSELEAVMEKQKKKVEGEVEMEVI"
     exon            106..146
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            147..205
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            206..367
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            368..517
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            518..600
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            601..862
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            863..989
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1078
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1153
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1302
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1444
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1473
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1606
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1738
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1865
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            1866..2040
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            2041..2173
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     exon            2174..2569
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2546..2551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /note="hexamer: TATAAA"
     polyA_site      2569
                     /gene="EPS8L1"
                     /gene_synonym="DRC3; EPS8R1; PP10566"
                     /note="major polyA site"
ORIGIN      
        1 agcctggaag ggaaaggaca gcggagagca gggcagagcc tgagcaggca gggcacctcc
       61 aggtgggcag gagctaccac tcagcaccat gagcaccgcc acaggcccag aagctgcccc
      121 aaagccaagc gccaagtcta tctatgagca gaggaagcgt tactccacag ttgttatggc
      181 tgatgtatcc cagtacccag tcaatcacct ggtgacgttc tgcctgggtg aggacgatgg
      241 cgtgcatacc gtggaggatg cctccaggaa gttggccgtc atggatagcc agggccgagt
      301 ctgggcacag gagatgctgc tgcgagtgtc tcccgaccat gtcacgctgc tcgacccggc
      361 ctccaaggag gagctggagt cgtacccact gggcgccatc gtgcgctgtg acgcggtgat
      421 gccacccggc aggagccgct cgttgctgct gctcgtgtgc caggaacccg agcgcgcgca
      481 gcccgacgtg cacttcttcc agggcctgcg cctcggggcg gagctgatcc gagaggacat
      541 ccagggggct ctgcacaatt accgctcggg ccgcggggag cgcagggcgg cggcgctcag
      601 ggccacgcag gaggagttgc agcgcgaccg ctcgcccgcc gctgagaccc cgcccctgca
      661 gcgccgcccg tcagtccgcg cagtgatcag caccgtagag cggggcgcgg gccgcggacg
      721 accccaggcg aagcccattc ccgaggcaga ggaggcgcag aggcctgagc cggtggggac
      781 ctcgagcaac gctgactcgg cctccccgga cctgggtccc cggggtcctg acctggcggt
      841 tctgcaggcg gagcgggaag tggacatcct gaaccacgtg ttcgacgacg tagagagctt
      901 tgtatcgagg ctgcagaagt cggcggaggc ggccagggtg ctggagcacc gggaacgcgg
      961 ccgcaggagc cggcgccggg cggctgggga gggcttgctg acgctgcggg ccaagccgcc
     1021 ctcggaggcc gagtacaccg acgtgctgca gaagatcaag tacgccttca gcctgctggc
     1081 ccggctgcgc ggcaacatcg ccgacccctc ctctccggag ctgttgcact tccttttcgg
     1141 gcctctgcag atgattgtga acacgtcggg ggggccggag ttcgcgagca gtgtgcggcg
     1201 gccgcatctg acatcggatg ccgtggcgct gctgcgggac aacgtcactc cacgtgaaaa
     1261 cgagctctgg acctcgctgg gggactcgtg gacccgcccc gggctggagc tgtccccgga
     1321 ggagggaccc ccatacagac ccgagttctt cagcggctgg gagccgccgg tcactgaccc
     1381 gcagagccgc gcctgggagg acccagttga gaaacagcta cagcacgagc ggaggcgccg
     1441 gcagcaaagc gccccccagg tcgctgtcaa tggtcaccga gacttggagc cagaatctga
     1501 gcctcagctg gagtcagaga cagcaggaaa atgggtcctg tgtaattatg acttccaggc
     1561 ccgcaacagc agtgagctgt cggtcaagca gcgggacgta ctggaggtcc tggatgacag
     1621 tcgtaagtgg tggaaggttc gggacccagc ggggcaggag ggatatgtgc cctacaacat
     1681 cctgacaccc taccccggac cccggctgca ccacagccaa agccctgccc gcagcctgaa
     1741 cagcactcct cctccaccac cagccccagc cccggcccca cctccagctc tggctcggcc
     1801 ccgctgggac aggccccgct gggacagctg cgatagcctc aacggcttgg accccagcga
     1861 gaaggagaaa ttctcccaga tgctcatcgt caacgaggaa ctgcaggcgc gcctggccca
     1921 gggccgctcg ggaccgagcc gcgcagtccc agggccccgc gccccggaac cgcagctcag
     1981 cccgggctcg gacgcctccg aggtccgcgc ctggctgcag gccaagggct ttagctccgg
     2041 gaccgtggac gcgctgggtg tgctgaccgg ggcgcagctt ttctcgctgc agaaggagga
     2101 gctgcgggcg gtgagccccg aggagggggc acgtgtgtac agccaggtca ccgtgcagcg
     2161 ctcgctgctg gaggacaaag agaaagtgtc agagctggag gcagtgatgg agaagcaaaa
     2221 gaagaaggtg gaaggcgagg tggaaatgga ggtcatttga cctgccaggc gcccttcgca
     2281 aagagtgacg aggccccgtg ggagaacgga ctcctcagac tctccccaat agcggaagtc
     2341 gatcttctga aggatggcca atctgctccg gccctggtct tcccccatcc cggtggacag
     2401 acttaacgat ccttgctgca gtccctccgg agaggatctg gactggctgg gagtggggag
     2461 ggcgtggaga cagtctacgg aaagcgctag cagacccccg agagggtgca gtggagccct
     2521 gagcattgta atatgcggcc cagcctataa acagcctccg tgcttagca
//
