LOCUS       NM_006589               3190 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens endosomal transmembrane epsin interactor 3 (ENTREP3),
            transcript variant 1, mRNA.
ACCESSION   NM_006589
VERSION     NM_006589.3
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 3190)
  AUTHORS   Ma,Y., Feng,H., Wang,Y., Hu,L., Su,X., Li,N. and Li,X.
  TITLE     COTE-1 promotes the proliferation and invasion of small cell lung
            cancer by regulating autophagy activity via the AMPK/mTOR signaling
            pathway
  JOURNAL   Mol Cell Probes 71, 101918 (2023)
   PUBMED   37454876
  REMARK    GeneRIF: COTE-1 promotes the proliferation and invasion of small
            cell lung cancer by regulating autophagy activity via the AMPK/mTOR
            signaling pathway.
REFERENCE   2  (bases 1 to 3190)
  AUTHORS   Zhang,H., Chen,S., Xu,S. and Li,X.
  TITLE     COTE1 Facilitates Intrahepatic Cholangiocarcinoma Progression via
            Beclin1-Dependent Autophagy Inhibition
  JOURNAL   Biomed Res Int 2023, 5491682 (2023)
   PUBMED   37780485
  REMARK    GeneRIF: COTE1 Facilitates Intrahepatic Cholangiocarcinoma
            Progression via Beclin1-Dependent Autophagy Inhibition.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3190)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3190)
  AUTHORS   Wu,C.L., Tan,Q.X., Liu,D., Jiang,J.E., Lu,T., Huang,Z.M. and
            Su,Y.J.
  TITLE     High FAM189B Expression and Its Prognostic Value in Patients with
            Gastric Cancer
  JOURNAL   Biomed Res Int 2021, 8875971 (2021)
   PUBMED   34124264
  REMARK    GeneRIF: High FAM189B Expression and Its Prognostic Value in
            Patients with Gastric Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3190)
  AUTHORS   Zhang,H., Tian,Y., Shen,J., Wang,Y., Xu,Y., Wang,Y., Han,Z. and
            Li,X.
  TITLE     Upregulation of the putative oncogene COTE1 contributes to human
            hepatocarcinogenesis through modulation of WWOX signaling
  JOURNAL   Int J Oncol 45 (2), 719-731 (2014)
   PUBMED   24899407
  REMARK    GeneRIF: our findings suggest that the cytoplasmic protein COTE1
            contributes to hepatocellular carcinoma tumorigenesis by regulating
            cell proliferation through the modulation of WWOX signaling
REFERENCE   6  (bases 1 to 3190)
  AUTHORS   Zhang,H., Huang,C.J., Tian,Y., Wang,Y.P., Han,Z.G. and Li,X.C.
  TITLE     Ectopic overexpression of COTE1 promotes cellular invasion of
            hepatocellular carcinoma
  JOURNAL   Asian Pac J Cancer Prev 13 (11), 5799-5804 (2012)
   PUBMED   23317259
  REMARK    GeneRIF: Overexpression of COTE1 promotes cellular invasion of
            hepatocellular carcinoma.
REFERENCE   7  (bases 1 to 3190)
  AUTHORS   Kallin,A., Johannessen,L.E., Cani,P.D., Marbehant,C.Y.,
            Essaghir,A., Foufelle,F., Ferre,P., Heldin,C.H., Delzenne,N.M. and
            Demoulin,J.B.
  TITLE     SREBP-1 regulates the expression of heme oxygenase 1 and the
            phosphatidylinositol-3 kinase regulatory subunit p55 gamma
  JOURNAL   J Lipid Res 48 (7), 1628-1636 (2007)
   PUBMED   17452746
REFERENCE   8  (bases 1 to 3190)
  AUTHORS   Ludes-Meyers,J.H., Kil,H., Bednarek,A.K., Drake,J., Bedford,M.T.
            and Aldaz,C.M.
  TITLE     WWOX binds the specific proline-rich ligand PPXY: identification of
            candidate interacting proteins
  JOURNAL   Oncogene 23 (29), 5049-5055 (2004)
   PUBMED   15064722
REFERENCE   9  (bases 1 to 3190)
  AUTHORS   Winfield,S.L., Tayebi,N., Martin,B.M., Ginns,E.I. and Sidransky,E.
  TITLE     Identification of three additional genes contiguous to the
            glucocerebrosidase locus on chromosome 1q21: implications for
            Gaucher disease
  JOURNAL   Genome Res 7 (10), 1020-1026 (1997)
   PUBMED   9331372
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK093335.1, BC006493.2 and BC040136.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006589.2.
            
            Summary: This gene is located near the gene for the lysosomal
            enzyme glucosylceramidase; a deficiency in this enzyme is
            associated with Gaucher disease. The encoded protein has been
            identified as a potential binding partner of a WW domain-containing
            protein which is involved in apoptosis and tumor suppression.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.27608.1,
                                           SRR1163657.186137.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361361.7/ ENSP00000354958.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-520               AK093335.1         1-520
            521-3178            BC006493.2         1-2658
            3179-3190           BC040136.1         2368-2379
FEATURES             Location/Qualifiers
     source          1..3190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..3190
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /note="endosomal transmembrane epsin interactor 3"
                     /db_xref="GeneID:10712"
                     /db_xref="HGNC:HGNC:1233"
                     /db_xref="MIM:619447"
     exon            1..831
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     CDS             607..2613
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /note="isoform a is encoded by transcript variant 1;
                     protein FAM189B; family with sequence similarity 189
                     member B; protein ENTREP3"
                     /codon_start=1
                     /product="protein ENTREP3 isoform a"
                     /protein_id="NP_006580.2"
                     /db_xref="CCDS:CCDS1103.1"
                     /db_xref="GeneID:10712"
                     /db_xref="HGNC:HGNC:1233"
                     /db_xref="MIM:619447"
                     /translation="MMPSPSDSSRSLTSRPSTRGLTHLRLHRPWLQALLTLGLVQVLL
                     GILVVTFSMVASSVTTTESIKRSCPSWAGFSLAFSGVVGIVSWKRPFTLVISFFSLLS
                     VLCVMLSMAGSVLSCKNAQLARDFQQCSLEGKVCVCCPSVPLLRPCPESGQELKVAPN
                     STCDEARGALKNLLFSVCGLTICAAIICTLSAIVCCIQIFSLDLVHTLAPERSVSGPL
                     GPLGCTSPPPAPLLHTMLDLEEFVPPVPPPPYYPPEYTCSSETDAQSITYNGSMDSPV
                     PLYPTDCPPSYEAVMGLRGDSQATLFDPQLHDGSCICERVASIVDVSMDSGSLVLSAI
                     GDLPGGSSPSEDSCLLELQGSVRSVDYVLFRSIQRSRAGYCLSLDCGLRGPFEESPLP
                     RRPPRAARSYSCSAPEAPPPLGAPTAARSCHRLEGWPPWVGPCFPELRRRVPRGGGRP
                     AAAPPTRAPTRRFSDSSGSLTPPGHRPPHPASPPPLLLPRSHSDPGITTSSDTADFRD
                     LYTKVLEEEAASVSSADTGLCSEACLFRLARCPSPKLLRARSAEKRRPVPTFQKVPLP
                     SGPAPAHSLGDLKGSWPGRGLVTRFLQISRKAPDPSGTGAHGHKQVPRSLWGRPGRES
                     LHLRSCGDLSSSSSLRRLLSGRRLERGTRPHSLSLNGGSRETGL"
     exon            832..888
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            889..999
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1119
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1227
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            1228..1400
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1500
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1570
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..2116
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2185
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            2186..2439
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     exon            2440..3190
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3156..3161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /note="hexamer: AATAAA"
     polyA_site      3190
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /note="major polyA site"
ORIGIN      
        1 attcccatcc cccttctcta gtccccgacc tgcggcagcc ggagctcggg gagcggagcg
       61 tggtggggag gggagcggga caggcgacac aggagacagc ggcgccgcgg cctctcccca
      121 ccaggcggcc ccggatccta ctggacgccc tgagggcaca ccgaccgcgc ctctagagtc
      181 accccacgcc gacccctccc ctcttctcta gacttatttc catccttccc gcttttaccc
      241 tccccacccc tccctgggct ccaggccgcc gccccctcct cactcctgga ccggcccttc
      301 tcggtgcccc tcttccctag ggagatgcga tgagccggtg cccccgcgtc ctcatcgtcg
      361 ccccgggcac ggtgcccgtc cagtgcccgt ggtggggagg gagcactccg cggtccctcc
      421 gtgacgcccc tcgcttggcc ccccccacag ctggcgtccc tcggccatgc cccaggggac
      481 ccagccaggg ggtgggctct agagcgagtg gggtggagag gagaaaggac ggggccttgg
      541 gcgcctctga gatgctccca agtgccaggg agggccgagc gaggcgcagg caaccgggca
      601 gcaggcatga tgccctcgcc tagtgactcc agccgctcgc tgaccagccg gcccagcacc
      661 aggggcctta cccacctccg cctccaccga ccctggctgc aggccctgct tacgctgggg
      721 ctggtccaag tgctcctggg catcctggtg gtcaccttca gcatggtggc ctcttccgtc
      781 accaccaccg agagcatcaa gaggtcctgc ccgtcttggg ctgggttctc gctggcgttc
      841 tccggggtgg ttggcattgt gtcctggaag cggccattca ctctagtgat ctccttcttc
      901 tccttgcttt cggtgctctg tgtcatgctt agcatggctg gctctgttct ctcctgtaag
      961 aatgctcaac tggcccgaga cttccaacag tgctctctgg aaggaaaggt ctgtgtgtgc
     1021 tgtccctctg ttcccctcct ccggccctgt ccagagtcgg ggcaggaact gaaagttgcc
     1081 cctaactcca cctgtgatga agcccgaggg gccctcaaga acctgctctt cagcgtctgt
     1141 gggctcacca tttgtgccgc tataatctgt acactctctg ctattgtctg ctgcatccaa
     1201 atcttctccc tggacctcgt gcatacgctg gcccctgagc ggtcagtctc aggcccactg
     1261 ggacctctgg gctgcacgtc cccgccccca gcccctctcc tacacaccat gctggacctg
     1321 gaggaatttg tcccgcctgt gcccccaccg ccctactatc ccccagagta tacctgcagc
     1381 tcagaaacag atgcacagag catcacgtac aatggctcca tggacagccc agtgcccttg
     1441 taccctaccg attgcccccc ttcttatgag gcagtcatgg gactacgagg agacagccag
     1501 gccactctct ttgaccctca gcttcacgat ggctcgtgca tctgtgaacg agtggcctcc
     1561 attgtagacg tgtccatgga cagcgggtct ctggtgctgt cagccattgg tgacctccct
     1621 gggggctcta gcccgtcgga ggactcgtgc ctgctggagc tgcagggctc cgtgcgctcc
     1681 gtggactacg ttctctttcg ctccatccag cgcagccgtg ccggctactg cctcagcctg
     1741 gactgtggcc tgcggggccc cttcgaggaa agccccctgc cacggcgccc cccacgggct
     1801 gcccgctcct attcctgctc tgcccctgaa gctccacccc cactgggtgc ccccacagct
     1861 gcccgcagct gccaccggtt ggagggctgg ccgccctggg tgggaccctg cttccccgag
     1921 ctgaggcggc gggtcccccg gggagggggc cgcccagccg cagccccgcc cacccgagcc
     1981 ccgactcgtc gcttcagcga tagctcaggt tccctcaccc caccggggca ccggcctcct
     2041 catccggcat ccccaccacc gctgctgctg ccacggtccc acagcgaccc aggcatcacg
     2101 acctccagtg acactgctga cttcagggac ctttatacca aagtgcttga ggaagaagct
     2161 gcttctgttt cctctgcaga tacagggctc tgctctgaag cctgcctctt ccgcctagcc
     2221 cgctgccctt cccccaagtt gctacgtgcc cggtcagccg agaaacggcg ccctgtgccc
     2281 accttccaaa aagttcccct gccctcgggc cctgcacctg cccactccct gggggaccta
     2341 aagggcagct ggccaggtcg gggcctggtc actcgtttcc tccagatatc caggaaagcc
     2401 ccagacccca gtgggactgg agctcatgga cataagcagg tgccccggag cctgtggggc
     2461 cggcctggcc gagagagcct ccaccttcgc agctgcggag atctgagctc tagctcttcc
     2521 ctgcggcgtc tcctgtctgg ccgcaggctg gagcgtggta cccgccccca cagcctcagc
     2581 ctcaacgggg gcagccggga gactgggctc tgacctaggc ttcttgtcac actgaacaca
     2641 tccagccaca ggcaccagct ggttgggacc agcagccccc agcatcctct tgcactggct
     2701 ggcacaaaaa gaaacctgct gtataccccc caaagtgtcc ctttccctcc tacctctggg
     2761 gtctcttgct gcttgcctct gctgctctgg actgggagag cttctgtcct gtgctgcatg
     2821 ggtatttaga ctgtggggga gatgcccctt cttatagcac tggaggagga aaacaaattc
     2881 ttgtccccct cagaatgaga gtggctcttt ctgatttgca agggcactat ggtcagggca
     2941 aaggcatggc ccaggtgttt aagtacaggg tgacgtgtgc ctatgcaatg gggtggtaag
     3001 gcaggcacga agagtccaaa aaatctaggt ggcctctcag ctctgccacc tctagctgca
     3061 tgaccttggg caagctatgt aaccccaatt gcctgctcca ttaaagactg tgaaggtaga
     3121 atgtttgtaa agctcttaac agtatgtaag ccttcaataa atttcagttt tccccttgtt
     3181 ttcttgatca
//
