LOCUS       NM_004416               3908 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens deltex E3 ubiquitin ligase 1 (DTX1), mRNA.
ACCESSION   NM_004416 XM_011538009
VERSION     NM_004416.3
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 3908)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 3908)
  AUTHORS   Yoo,S.S., Lee,J.H., Hong,M.J., Choi,J.E., Kang,H.G., Do,S.K.,
            Kim,J.H., Baek,S.A., Choi,S.H., Lee,W.K., Lee,Y.H., Seo,H., Lee,J.,
            Lee,S.Y., Cha,S.I., Kim,C.H. and Park,J.Y.
  TITLE     Effect of genetic variation in Notch regulator DTX1 on SCLC
            prognosis compared with the effect on NSCLC prongosis
  JOURNAL   Thorac Cancer 11 (9), 2698-2703 (2020)
   PUBMED   32700476
  REMARK    GeneRIF: Effect of genetic variation in Notch regulator DTX1 on
            SCLC prognosis compared with the effect on NSCLC prongosis.
REFERENCE   3  (bases 1 to 3908)
  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 3908)
  AUTHORS   Lee,J.H., Shin,K.M., Lee,S.Y., Hong,M.J., Choi,J.E., Kang,H.G.,
            Do,S.K., Lee,W.K., Lee,E.B., Seok,Y., Jeong,J.Y., Yoo,S.S., Lee,J.,
            Cha,S.I., Kim,C.H., Cho,S., Jheon,S., Kim,Y.C., Oh,I.J., Na,K.J.,
            Kim,M.S., Lee,J.M., Yang,H.C., Jung,C.Y., Park,C.K., Lee,M.K.,
            Kim,D.K. and Park,J.Y.
  TITLE     Genetic Variant of Notch Regulator DTX1 Predicts Survival After
            Lung Cancer Surgery
  JOURNAL   Ann Surg Oncol 26 (11), 3756-3764 (2019)
   PUBMED   31313037
  REMARK    GeneRIF: DTX1 rs1732786 single nucleotide polymorphism is
            associated with lung Cancer.
REFERENCE   5  (bases 1 to 3908)
  AUTHORS   Spoerri,I., Herms,S., Eytan,O., Sarig,O., Heinimann,K.,
            Sprecher,E., Itin,P.H. and Burger,B.
  TITLE     Immune-regulatory genes as possible modifiers of familial
            pityriasis rubra pilaris - lessons from a family with PRP and
            psoriasis
  JOURNAL   J Eur Acad Dermatol Venereol 32 (10), e389-e392 (2018)
   PUBMED   29704870
  REMARK    GeneRIF: frameshift mutations in DTX1 and NLRC5, two genes involved
            in immune regulation, were identified in a family with familial
            pityriasis rubra pilaris.
REFERENCE   6  (bases 1 to 3908)
  AUTHORS   Yamamoto,N., Yamamoto,S., Inagaki,F., Kawaichi,M., Fukamizu,A.,
            Kishi,N., Matsuno,K., Nakamura,K., Weinmaster,G., Okano,H. and
            Nakafuku,M.
  TITLE     Role of Deltex-1 as a transcriptional regulator downstream of the
            Notch receptor
  JOURNAL   J Biol Chem 276 (48), 45031-45040 (2001)
   PUBMED   11564735
REFERENCE   7  (bases 1 to 3908)
  AUTHORS   Lee,L., Dowhanick-Morrissette,J., Katz,A., Jukofsky,L. and
            Krantz,I.D.
  TITLE     Chromosomal localization, genomic characterization, and mapping to
            the Noonan syndrome critical region of the human Deltex (DTX1) gene
  JOURNAL   Hum Genet 107 (6), 577-581 (2000)
   PUBMED   11153911
REFERENCE   8  (bases 1 to 3908)
  AUTHORS   Matsuno,K., Eastman,D., Mitsiades,T., Quinn,A.M., Carcanciu,M.L.,
            Ordentlich,P., Kadesch,T. and Artavanis-Tsakonas,S.
  TITLE     Human deltex is a conserved regulator of Notch signalling
  JOURNAL   Nat Genet 19 (1), 74-78 (1998)
   PUBMED   9590294
REFERENCE   9  (bases 1 to 3908)
  AUTHORS   Blaumueller,C.M., Qi,H., Zagouras,P. and Artavanis-Tsakonas,S.
  TITLE     Intracellular cleavage of Notch leads to a heterodimeric receptor
            on the plasma membrane
  JOURNAL   Cell 90 (2), 281-291 (1997)
   PUBMED   9244302
REFERENCE   10 (bases 1 to 3908)
  AUTHORS   Matsuno,K., Diederich,R.J., Go,M.J., Blaumueller,C.M. and
            Artavanis-Tsakonas,S.
  TITLE     Deltex acts as a positive regulator of Notch signaling through
            interactions with the Notch ankyrin repeats
  JOURNAL   Development 121 (8), 2633-2644 (1995)
   PUBMED   7671825
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC089999.20.
            
            On or before Jun 27, 2020 this sequence version replaced
            XM_011538009.2, NM_004416.2.
            
            Summary: Studies in Drosophila have identified this gene as
            encoding a positive regulator of the Notch-signaling pathway. The
            human gene encodes a protein of unknown function; however, it may
            play a role in basic helix-loop-helix transcription factor
            activity. [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 :: ERR4368409.294361.1,
                                           ERR4352443.345499.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000548759.2/ ENSP00000510707.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-215               AC089999.20        194071-194285       c
            216-1218            AC089999.20        192564-193566       c
            1219-1900           AC089999.20        172910-173591       c
            1901-1962           AC089999.20        157792-157853       c
            1963-2124           AC089999.20        157315-157476       c
            2125-2186           AC089999.20        156916-156977       c
            2187-2345           AC089999.20        156068-156226       c
            2346-2507           AC089999.20        155812-155973       c
            2508-2597           AC089999.20        155601-155690       c
            2598-3908           AC089999.20        152990-154300       c
FEATURES             Location/Qualifiers
     source          1..3908
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.13"
     gene            1..3908
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /note="deltex E3 ubiquitin ligase 1"
                     /db_xref="GeneID:1840"
                     /db_xref="HGNC:HGNC:3060"
                     /db_xref="MIM:602582"
     exon            1..215
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            216..1218
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     CDS             960..2822
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /EC_number="2.3.2.27"
                     /note="protein deltex-1; deltex 1, E3 ubiquitin ligase;
                     deltex homolog 1; RING-type E3 ubiquitin transferase DTX1"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase DTX1"
                     /protein_id="NP_004407.2"
                     /db_xref="CCDS:CCDS9164.1"
                     /db_xref="GeneID:1840"
                     /db_xref="HGNC:HGNC:3060"
                     /db_xref="MIM:602582"
                     /translation="MSRPGHGGLMPVNGLGFPPQNVARVVVWEWLNEHSRWRPYTATV
                     CHHIENVLKEDARGSVVLGQVDAQLVPYIIDLQSMHQFRQDTGTMRPVRRNFYDPSSA
                     PGKGIVWEWENDGGAWTAYDMDICITIQNAYEKQHPWLDLSSLGFCYLIYFNSMSQMN
                     RQTRRRRRLRRRLDLAYPLTVGSIPKSQSWPVGASSGQPCSCQQCLLVNSTRAASNAI
                     LASQRRKAPPAPPLPPPPPPGGPPGALAVRPSATFTGAALWAAPAAGPAEPAPPPGAP
                     PRSPGAPGGARTPGQNNLNRPGPQRTTSVSARASIPPGVPALPVKNLNGTGPVHPALA
                     GMTGILLCAAGLPVCLTRAPKPILHPPPVSKSDVKPVPGVPGVCRKTKKKHLKKSKNP
                     EDVVRRYMQKVKNPPDEDCTICMERLVTASGYEGVLRHKGVRPELVGRLGRCGHMYHL
                     LCLVAMYSNGNKDGSLQCPTCKAIYGEKTGTQPPGKMEFHLIPHSLPGFPDTQTIRIV
                     YDIPTGIQGPEHPNPGKKFTARGFPRHCYLPNNEKGRKVLRLLITAWERRLIFTIGTS
                     NTTGESDTVVWNEIHHKTEFGSNLTGHGYPDASYLDNVLAELTAQGVSEAAAKA"
     exon            1219..1900
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            1901..1962
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            1963..2124
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2186
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            2187..2345
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            2346..2507
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            2508..2597
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     exon            2598..3908
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3889..3894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /note="hexamer: AATAAA"
     polyA_site      3908
                     /gene="DTX1"
                     /gene_synonym="hDx-1; RNF140"
                     /note="major polyA site"
ORIGIN      
        1 acccgcgaga tcccggcggc cgccagccgg ctcctgcgtc cgtccgtcgg ccgggcagtc
       61 tgtccacgcg cggaaagctc ggcgcggcgg ccgaggggcc tgggagggaa cgggcgcgga
      121 ggcgggaccg cggctccctc ccactccggg gggagcccag gaggcggcgg tgctggagcg
      181 cgagccggag ccggagccgg agacgaagag aggcggtcgc gagcacgagt ggggtggggc
      241 gtgcccacgg gcccccgccc ccctcgtccc cctcgtcccc cagcccagct ccggagccgc
      301 agtccaggcg cgccgcccga gggtccacgc cgcacccctc ccccgtgcgt tctgcggcca
      361 cccaggcctt ccaggacacc gtggagaggg aacaaggggg cagggacgcc cccttcggca
      421 ggagccgtcg gagaaggggg cccagaccgg agggaggcga gaagccccac tgaagccggg
      481 cgcagggtct gggacgcagt tgggagtgca aagggctggc tgagagccgc aggagcagca
      541 ggctgtggcc caggcctcct gggtgacagg ccctgtctgg cggggaagag ggaccaagag
      601 acaacacgga agaggctgga cctcgaacag gggcggctgc ctcactccct acctgagcca
      661 gccgaggggg ccaaggactt tagagctgtt tcctccggca taagagagac acttgctttc
      721 cagggcagca ccctttatcg gagaaggctc tacagggaag gggtctttgc agcctggatg
      781 gccatcccac attcctttaa cggaggtctc taggcctcag agagaaccca gagttagaaa
      841 ggaggccaga cggtccttgc tgtccccctg gggagagagg aagttgccgc ctgctgccag
      901 gcccaggagg agctgggcct gcaatagtgg gggacctggc ccctgaggca gtggcggcca
      961 tgtcacggcc aggccacggt gggctgatgc ctgtgaatgg tctgggcttc ccaccgcaga
     1021 acgtggcccg ggtggtggtg tgggagtggc tgaatgagca cagccgctgg cggccctaca
     1081 cggccaccgt gtgccaccac attgagaacg tgctgaagga ggacgctcgc ggttccgtgg
     1141 tcctggggca ggtggacgcc cagcttgtgc cctacatcat cgacctgcag tccatgcacc
     1201 agtttcgcca ggacacaggc accatgcggc ccgtgcggcg caacttctac gacccgtcgt
     1261 cggcgccggg caagggcatc gtgtgggagt gggagaacga cggcggcgca tggacggcct
     1321 acgatatgga catctgcatc accatccaga acgcctacga gaagcagcac ccgtggctcg
     1381 acctctcatc gctaggcttc tgctacctca tctacttcaa cagcatgtcg cagatgaacc
     1441 gccagacgcg ccggcgccgc cgcctgcgcc gccgcctgga cctcgcctac ccgctcaccg
     1501 tgggctccat ccctaagtcg cagtcgtggc ccgtgggcgc cagctcgggc cagccctgct
     1561 cctgccagca gtgcctgctg gtcaacagca cgcgcgccgc ctccaacgcc atcctggcct
     1621 cgcagcgccg caaggcgccc cccgcgcccc cgctgccgcc gccgccgcca cctggagggc
     1681 ctccaggcgc gcttgccgtg cgccccagcg ccaccttcac aggcgccgcg ctctgggcag
     1741 cgcccgccgc cggccccgcc gagcccgcgc cgcctcccgg ggcgccccca cggagcccgg
     1801 gcgcccccgg cggagcgcgc accccggggc agaacaacct caaccggccc gggccccagc
     1861 gcaccaccag cgtgagcgcg cgcgcctcca tcccgccggg ggtccccgca ctcccggtga
     1921 agaacttgaa tggtactggg ccggtccatc cggccctggc agggatgacc gggatactgc
     1981 tgtgcgcggc cgggctgccc gtgtgcctga cgcgggcccc caagcccatc ctgcacccgc
     2041 cgcccgtgag caagagcgac gtgaagcccg tgcctggcgt gcccggggtg tgccgcaaga
     2101 ccaagaagaa gcaccttaaa aagagtaaga atcccgagga tgtggttcga agatacatgc
     2161 agaaggtgaa aaacccacct gatgaggact gcaccatctg catggagcga ctggtcacag
     2221 catcaggcta cgagggcgtg cttcggcaca agggcgtgcg gcctgagctc gtgggccgcc
     2281 tgggccgctg tggccacatg taccacctgc tgtgcctcgt ggccatgtac tccaatggca
     2341 acaaggatgg cagcctgcag tgccccacct gcaaggccat ctacggggag aagacgggta
     2401 cgcagccgcc tgggaagatg gagttccacc tcatccccca ctcgctgccc ggcttccctg
     2461 atacccagac catccgcatc gtctatgaca tccccacagg catccagggc cctgagcacc
     2521 ccaaccccgg gaagaagttc accgcaagag gattccctcg ccactgctat ctacccaaca
     2581 acgagaaagg ccggaaggtg ctgcggctgc tcatcacggc ctgggagaga agactcatct
     2641 tcactatcgg cacgtccaac accacgggcg agtcggacac cgtggtgtgg aacgagatcc
     2701 accacaagac cgagtttgga tccaacctca cgggccacgg ctacccggac gctagctacc
     2761 tagacaacgt gctggctgag ctcacagccc agggcgtatc cgaggctgca gccaaggctt
     2821 gaggcccaag gctgcccacc ttccctcctg ctttgcccct ggtccggcaa atgcctcctt
     2881 cgccaggtgt gtcctggtag cccaggttca gggctgggga ggagcctgcg gaaggggccg
     2941 cagccattca ggggacctgc ctggtggcag ctgggatgaa gagagatggc atgtcaggct
     3001 ggccccgaat catagctccc tgagagggcc aagcagagag tactggaaac ctccctacca
     3061 aaaagacaga gacccgcccc ctcacacaca aacacacatg tcctgttgaa ctcatgcacg
     3121 cacacccacg tgcctgtact tgcccccagg ctggaagaga agagacagaa agaccccatg
     3181 acccccccat gtggatcccc atctgtgtct cagttgcatc tgtacagcct tgtctgcaaa
     3241 ctggaggatg cggggcaagc ccttaggggc ctgccagggc tcggggggca aagagggact
     3301 cgggaaactc agtgtacccc agatgcctca cccattccgt gtcatcaccc atgtctgcca
     3361 cccactgatt gggcaattgt gggcccatgg ggtggaagcc cccagatgac tgagcagttc
     3421 tacaaaagaa tggccagcac gagcggggac tagagggtcc tgattttgtg tctgtgcctc
     3481 ttcatctctc tggactctga tctccttctc ccttcccatc tccaggcctt ctgtctgtcc
     3541 cagataaagg cgctgttctc ccatcctccc taccccatcc tctccaccaa atcgctccca
     3601 attttgagag ccaaaggctg gcgcttctga cttcaggagc gaaaggagga ggcctagttt
     3661 gggccgatgt attttaaagc agagtggaca gcagagagtc aatttccctt tcgttgggag
     3721 tgggcagtgg ggtggctaat tgtcttcggc caaccagggg cctgttgccc aggcaactca
     3781 ccagctccgc ctctgctgat tggctgccac ggtgggagtc agccaagatt taaagggatg
     3841 ccagcgattg ctcttttcaa aacctaccag tcccactgtg ggtggagaaa taaatggtct
     3901 ttctcctc
//
