LOCUS       NM_139053               2222 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens EPS8 signaling adaptor L3 (EPS8L3), transcript variant
            1, mRNA.
ACCESSION   NM_139053
VERSION     NM_139053.3
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 2222)
  AUTHORS   Tsui,Y.M., Ho,D.W., Sze,K.M., Lee,J.M., Lee,E., Zhang,Q.,
            Cheung,G.C., Tang,C.N., Tang,V.W., Cheung,E.T., Lo,I.L., Chan,A.C.,
            Cheung,T.T. and Ng,I.O.
  TITLE     Sorted-Cell Sequencing on HCC Specimens Reveals EPS8L3 as a Key
            Player in CD24/CD13/EpCAM-Triple Positive, Stemness-Related HCC
            Cells
  JOURNAL   Cell Mol Gastroenterol Hepatol 18 (3), 101358 (2024)
   PUBMED   38750898
  REMARK    GeneRIF: Sorted-Cell Sequencing on HCC Specimens Reveals EPS8L3 as
            a Key Player in CD24/CD13/EpCAM-Triple Positive, Stemness-Related
            HCC Cells.
REFERENCE   2  (bases 1 to 2222)
  AUTHORS   Li,P., Hu,T., Wang,H., Tang,Y., Ma,Y., Wang,X., Xu,Y. and Chen,G.
  TITLE     Upregulation of EPS8L3 is associated with tumorigenesis and poor
            prognosis in patients with liver cancer
  JOURNAL   Mol Med Rep 20 (3), 2493-2499 (2019)
   PUBMED   31322213
  REMARK    GeneRIF: The results revealed that EPS8L3 expression was
            significantly upregulated in liver cancer tissues and cell lines
            (P<0.01), and that the expression of EPS8L3 was closely associated
            with grade (P=0.024) and mortality (P=0.011).
REFERENCE   3  (bases 1 to 2222)
  AUTHORS   Zeng,C.X., Tang,L.Y., Xie,C.Y., Li,F.X., Zhao,J.Y., Jiang,N.,
            Tong,Z., Fu,S.B., Wen,F.J. and Feng,W.S.
  TITLE     Overexpression of EPS8L3 promotes cell proliferation by inhibiting
            the transactivity of FOXO1 in HCC
  JOURNAL   Neoplasma 65 (5), 701-707 (2018)
   PUBMED   29940761
  REMARK    GeneRIF: EPS8L3 might promote proliferation by hyperactivating the
            AKT signaling pathway and subsequently inhibiting the FOXO1
            transcriptional activity in hepatocellular carcinoma
REFERENCE   4  (bases 1 to 2222)
  AUTHORS   Li,Q., Liu,L.H., Chang,R.X., Pan,G.B., Chen,G., Gao,M., Cai,L.Q.,
            Wang,P.G., Pimentel,J.D., Pittelkow,M.R., Yang,S. and Zhang,X.J.
  TITLE     Two cases of Marie Unna hereditary hypotrichosis: clinical features
            and mutation analysis of the U2HR and EPS8L3 genes
  JOURNAL   Clin Exp Dermatol 39 (2), 225-227 (2014)
   PUBMED   24236410
REFERENCE   5  (bases 1 to 2222)
  AUTHORS   Zhang,X., Guo,B.R., Cai,L.Q., Jiang,T., Sun,L.D., Cui,Y., Hu,J.C.,
            Zhu,J., Chen,G., Tang,X.F., Sun,G.Q., Tang,H.Y., Liu,Y., Li,M.,
            Li,Q.B., Cheng,H., Gao,M., Li,P., Yang,X., Zuo,X.B., Zheng,X.D.,
            Wang,P.G., Wang,J., Wang,J., Liu,J.J., Yang,S., Li,Y.R. and
            Zhang,X.J.
  TITLE     Exome sequencing identified a missense mutation of EPS8L3 in Marie
            Unna hereditary hypotrichosis
  JOURNAL   J Med Genet 49 (12), 727-730 (2012)
   PUBMED   23099647
  REMARK    GeneRIF: The results suggest that EPS8L3 is a causative gene for
            Marie Unna hereditary hypotrichosis.
REFERENCE   6  (bases 1 to 2222)
  AUTHORS   Voss,M., Lettau,M. and Janssen,O.
  TITLE     Identification of SH3 domain interaction partners of human FasL
            (CD178) by phage display screening
  JOURNAL   BMC Immunol 10, 53 (2009)
   PUBMED   19807924
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2222)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 2222)
  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 2222)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012926.1, BP419077.1,
            BM824107.1 and BM737806.1.
            
            On Jun 2, 2019 this sequence version replaced NM_139053.2.
            
            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. Alternatively spliced transcript variants encoding
            different isoforms exist. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012926.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1005              BC012926.1         20-1024
            1006-1295           BP419077.1         98-387
            1296-1873           BM824107.1         85-662
            1874-2067           BC012926.1         1893-2086
            2068-2222           BM737806.1         59-213
FEATURES             Location/Qualifiers
     source          1..2222
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..2222
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /note="EPS8 signaling adaptor L3"
                     /db_xref="GeneID:79574"
                     /db_xref="HGNC:HGNC:21297"
                     /db_xref="MIM:614989"
     exon            1..102
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            103..157
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1911
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /note="isoform a is encoded by transcript variant 1;
                     EPS8-related protein 3; epidermal growth factor receptor
                     kinase substrate 8-like protein 3; epidermal growth factor
                     receptor pathway substrate 8-related protein 3; EPS8-like
                     protein 3; EPS8 like 3"
                     /codon_start=1
                     /product="epidermal growth factor receptor kinase
                     substrate 8-like protein 3 isoform a"
                     /protein_id="NP_620641.1"
                     /db_xref="CCDS:CCDS815.1"
                     /db_xref="GeneID:79574"
                     /db_xref="HGNC:HGNC:21297"
                     /db_xref="MIM:614989"
                     /translation="MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRV
                     QGPEDALQKLFEMDAQGRVWSQDLILQVRDGWLQLLDIETKEELDSYRLDSIQAMNVA
                     LNTCSYNSILSITVQEPGLPGTSTLLFQCQEVGAERLKTSLQKALEEELEQSRPRLGG
                     LQPGQDRWRGPAMERPLPMEQARYLEPGIPPEQPHQRTLEHSLPPSPRPLPRHTSARE
                     PSAFTLPPPRRSSSPEDPERDEEVLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKD
                     QGGLTQAQYIDCFQKIKHSFNLLGRLATWLKETSAPELVHILFKSLNFILARCPEAGL
                     AAQVISPLLTPKAINLLQSCLSPPESNLWMGLGPAWTTSRADWTGDEPLPYQPTFSDD
                     WQLPEPSSQAPLGYQDPVSLRRGSHRLGSTSHFPQEKTHNHDPQPGDPNSRPSSPKPA
                     QPALKMQVLYEFEARNPRELTVVQGEKLEVLDHSKRWWLVKNEAGRSGYIPSNILEPL
                     QPGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQAENFSTATVRTLGSLTGSQLLRIRPG
                     ELQMLCPQEAPRILSRLEAVRRMLGISP"
     exon            158..222
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            223..381
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            382..531
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            532..587
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            588..730
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            731..846
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            847..961
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1023
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1098
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1247
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1329
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1364
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1563
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1692
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1693..1766
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..1899
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1900..2222
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2200..2205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /note="hexamer: AATAAA"
     polyA_site      2222
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /note="major polyA site"
ORIGIN      
        1 actagcagag aagctgctgt ccttccacca ccagcaccgg accacctgct ccaagaccag
       61 cctcctgggg ggaccaggca cccggccttc actggcaccc agggagccgt cctcagcagc
      121 gtcaacatgt caaggcccag cagcagagcc atttacttgc accggaagga gtactcccag
      181 aacctcacct cagagcccac cctcctgcag cacagggtgg agcacttgat gacatgcaag
      241 caggggagtc agagagtcca ggggcccgag gatgccttgc agaagctgtt cgagatggat
      301 gcacagggcc gggtgtggag ccaagacttg atcctgcagg tcagggacgg ctggctgcag
      361 ctgctggaca ttgagaccaa ggaggagctg gactcttacc gcctagacag catccaggcc
      421 atgaatgtgg cgctcaacac atgttcctac aactccatcc tgtccatcac cgtgcaggag
      481 ccgggcctgc caggcactag cactctgctc ttccagtgcc aggaagtggg ggcagagcga
      541 ctgaagacca gcctgcagaa ggctctggag gaagagctgg agcaaagcag acctcgactt
      601 ggaggccttc agccaggcca ggacagatgg agggggcctg ctatggaaag gccgctccct
      661 atggagcagg cacgctatct ggagccgggg atccctccag aacagcccca ccagaggacc
      721 ctagagcaca gcctcccacc atccccaagg cccctgccac gccacaccag tgcccgagaa
      781 ccaagtgcct ttactctgcc tcctccaagg cggtcctctt cccccgagga cccagagagg
      841 gacgaggaag tgctgaacca tgtcctaagg gacattgagc tgttcatggg aaagctggag
      901 aaggcccagg caaagaccag caggaagaag aaatttggga aaaaaaacaa ggaccaggga
      961 ggtctcaccc aggcacagta cattgactgc ttccagaaga tcaagcacag cttcaacctc
     1021 ctgggaaggc tggccacctg gctgaaggag acaagtgccc ctgagctcgt acacatcctc
     1081 ttcaagtccc tgaacttcat cctggccagg tgccctgagg ctggcctagc agcccaagtg
     1141 atctcacccc tcctcacccc taaagctatc aacctgctac agtcctgtct aagcccacct
     1201 gagagtaacc tttggatggg gttgggccca gcctggacca ctagccgggc cgactggaca
     1261 ggcgatgagc ccctgcccta ccaacccaca ttctcagatg actggcaact tccagagccc
     1321 tccagccaag cacccttagg ataccaggac cctgtttccc ttcggcgggg aagtcatagg
     1381 ttagggagca cctcacactt tcctcaggag aagacacaca accatgaccc tcagcctggg
     1441 gaccccaact ccaggccctc cagccccaaa cctgcccagc cagccctgaa aatgcaagtc
     1501 ttgtacgagt ttgaagctag gaacccacgg gaactgactg tggtccaggg agagaagctg
     1561 gaggttctgg accacagcaa gcggtggtgg ctggtgaaga atgaggcggg acggagcggc
     1621 tacattccaa gcaacatcct ggagccccta cagccgggga cccctgggac ccagggccag
     1681 tcaccctctc gggttccaat gcttcgactt agctcgaggc ctgaagaggt cacagactgg
     1741 ctgcaggcag agaacttctc cactgccacg gtgaggacac ttgggtccct gacggggagc
     1801 cagctacttc gcataagacc tggggagcta cagatgctat gtccacagga ggccccacga
     1861 atcctgtccc ggctggaggc tgtcagaagg atgctgggga taagccctta ggcaccagct
     1921 tagacacctc caagaaccag gccccgctga tgcaagatgg cagatctgat acccattaga
     1981 gccccgagaa ttcctcttct ggatcccagt ttgcagcaaa ccccacaccc cagctcacac
     2041 agcaaaaaca atggacaggc ccagaggctg aagcaaacag tgtcccttct ggctgtgttg
     2101 gagcctcccc agtaaccacc tatttatttt acctctttcc caaacctgga gcatttatgc
     2161 ctaggcttgt caagaatctg ttcagtccct ctccttctca ataaaagcat cttcaagctt
     2221 gt
//
