LOCUS       NM_133181               2219 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens EPS8 signaling adaptor L3 (EPS8L3), transcript variant
            2, mRNA.
ACCESSION   NM_133181
VERSION     NM_133181.4
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 2219)
  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 2219)
  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 2219)
  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 2219)
  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 2219)
  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 2219)
  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 2219)
  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 2219)
  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 2219)
  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 AK292198.1, AY074930.1,
            BM824107.1 and BM737806.1.
            
            On Jun 2, 2019 this sequence version replaced NM_133181.3.
            
            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 (2) uses an alternate in-frame
            splice junction compared to variant 1. The resulting isoform (b)
            has the same N- and C-termini but is 1 aa shorter compared to
            isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853565.1350.1, AK292198.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361965.9/ ENSP00000355255.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1002              AK292198.1         24-1025
            1003-1292           AY074930.1         988-1277
            1293-1870           BM824107.1         85-662
            1871-2092           AK292198.1         1894-2115
            2093-2219           BM737806.1         87-213
FEATURES             Location/Qualifiers
     source          1..2219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..2219
                     /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..1908
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /note="isoform b is encoded by transcript variant 2;
                     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 b"
                     /protein_id="NP_573444.2"
                     /db_xref="CCDS:CCDS814.1"
                     /db_xref="GeneID:79574"
                     /db_xref="HGNC:HGNC:21297"
                     /db_xref="MIM:614989"
                     /translation="MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRV
                     QGPEDALQKLFEMDAQGRVWSQDLILQVRDGWLQLLDIETKEELDSYRLDSIQAMNVA
                     LNTCSYNSILSITVQEPGLPGTSTLLFQCQEVGAERLKTSLQKALEEELEQRPRLGGL
                     QPGQDRWRGPAMERPLPMEQARYLEPGIPPEQPHQRTLEHSLPPSPRPLPRHTSAREP
                     SAFTLPPPRRSSSPEDPERDEEVLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKDQ
                     GGLTQAQYIDCFQKIKHSFNLLGRLATWLKETSAPELVHILFKSLNFILARCPEAGLA
                     AQVISPLLTPKAINLLQSCLSPPESNLWMGLGPAWTTSRADWTGDEPLPYQPTFSDDW
                     QLPEPSSQAPLGYQDPVSLRRGSHRLGSTSHFPQEKTHNHDPQPGDPNSRPSSPKPAQ
                     PALKMQVLYEFEARNPRELTVVQGEKLEVLDHSKRWWLVKNEAGRSGYIPSNILEPLQ
                     PGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQAENFSTATVRTLGSLTGSQLLRIRPGE
                     LQMLCPQEAPRILSRLEAVRRMLGISP"
     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..727
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            728..843
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            844..958
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1020
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1095
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1244
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1326
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1361
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1560
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1689
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1763
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..1896
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1897..2219
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2197..2202
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8L3"
                     /gene_synonym="EPS8R3; HYPT5; MUHH2"
                     /note="hexamer: AATAAA"
     polyA_site      2219
                     /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 agcaaagacc tcgacttgga
      601 ggccttcagc caggccagga cagatggagg gggcctgcta tggaaaggcc gctccctatg
      661 gagcaggcac gctatctgga gccggggatc cctccagaac agccccacca gaggacccta
      721 gagcacagcc tcccaccatc cccaaggccc ctgccacgcc acaccagtgc ccgagaacca
      781 agtgccttta ctctgcctcc tccaaggcgg tcctcttccc ccgaggaccc agagagggac
      841 gaggaagtgc tgaaccatgt cctaagggac attgagctgt tcatgggaaa gctggagaag
      901 gcccaggcaa agaccagcag gaagaagaaa tttgggaaaa aaaacaagga ccagggaggt
      961 ctcacccagg cacagtacat tgactgcttc cagaagatca agcacagctt caacctcctg
     1021 ggaaggctgg ccacctggct gaaggagaca agtgcccctg agctcgtaca catcctcttc
     1081 aagtccctga acttcatcct ggccaggtgc cctgaggctg gcctagcagc ccaagtgatc
     1141 tcacccctcc tcacccctaa agctatcaac ctgctacagt cctgtctaag cccacctgag
     1201 agtaaccttt ggatggggtt gggcccagcc tggaccacta gccgggccga ctggacaggc
     1261 gatgagcccc tgccctacca acccacattc tcagatgact ggcaacttcc agagccctcc
     1321 agccaagcac ccttaggata ccaggaccct gtttcccttc ggcggggaag tcataggtta
     1381 gggagcacct cacactttcc tcaggagaag acacacaacc atgaccctca gcctggggac
     1441 cccaactcca ggccctccag ccccaaacct gcccagccag ccctgaaaat gcaagtcttg
     1501 tacgagtttg aagctaggaa cccacgggaa ctgactgtgg tccagggaga gaagctggag
     1561 gttctggacc acagcaagcg gtggtggctg gtgaagaatg aggcgggacg gagcggctac
     1621 attccaagca acatcctgga gcccctacag ccggggaccc ctgggaccca gggccagtca
     1681 ccctctcggg ttccaatgct tcgacttagc tcgaggcctg aagaggtcac agactggctg
     1741 caggcagaga acttctccac tgccacggtg aggacacttg ggtccctgac ggggagccag
     1801 ctacttcgca taagacctgg ggagctacag atgctatgtc cacaggaggc cccacgaatc
     1861 ctgtcccggc tggaggctgt cagaaggatg ctggggataa gcccttaggc accagcttag
     1921 acacctccaa gaaccaggcc ccgctgatgc aagatggcag atctgatacc cattagagcc
     1981 ccgagaattc ctcttctgga tcccagtttg cagcaaaccc cacaccccag ctcacacagc
     2041 aaaaacaatg gacaggccca gaggctgaag caaacagtgt cccttctggc tgtgttggag
     2101 cctccccagt aaccacctat ttattttacc tctttcccaa acctggagca tttatgccta
     2161 ggcttgtcaa gaatctgttc agtccctctc cttctcaata aaagcatctt caagcttgt
//
