LOCUS       NM_203486               2004 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens delta like canonical Notch ligand 3 (DLL3), transcript
            variant 2, mRNA.
ACCESSION   NM_203486
VERSION     NM_203486.3
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 2004)
  AUTHORS   Yao,J., Bergsland,E., Aggarwal,R., Aparicio,A., Beltran,H.,
            Crabtree,J.S., Hann,C.L., Ibrahim,T., Byers,L.A., Sasano,H.,
            Umejiego,J. and Pavel,M.
  TITLE     DLL3 as an Emerging Target for the Treatment of Neuroendocrine
            Neoplasms
  JOURNAL   Oncologist 27 (11), 940-951 (2022)
   PUBMED   35983951
  REMARK    GeneRIF: DLL3 as an Emerging Target for the Treatment of
            Neuroendocrine Neoplasms.
            Review article
REFERENCE   2  (bases 1 to 2004)
  AUTHORS   Hu,C., Dong,J., Liu,L., Liu,J., Sun,X., Teng,F., Wang,X., Ying,J.,
            Li,J., Xing,P. and Yang,L.
  TITLE     ASCL1 and DLL3 expressions and their clinicopathological
            implications in surgically resected pure small cell lung cancer: A
            study of 247 cases from the National Cancer Center of China
  JOURNAL   Thorac Cancer 13 (3), 338-345 (2022)
   PUBMED   34931456
  REMARK    GeneRIF: ASCL1 and DLL3 expressions and their clinicopathological
            implications in surgically resected pure small cell lung cancer: A
            study of 247 cases from the National Cancer Center of China.
REFERENCE   3  (bases 1 to 2004)
  AUTHORS   Matsuo,K., Taniguchi,K., Hamamoto,H., Inomata,Y., Komura,K.,
            Tanaka,T., Lee,S.W. and Uchiyama,K.
  TITLE     Delta-like canonical Notch ligand 3 as a potential therapeutic
            target in malignancies: A brief overview
  JOURNAL   Cancer Sci 112 (8), 2984-2992 (2021)
   PUBMED   34107132
  REMARK    GeneRIF: Delta-like canonical Notch ligand 3 as a potential
            therapeutic target in malignancies: A brief overview.
            Review article
REFERENCE   4  (bases 1 to 2004)
  AUTHORS   Liu,Q., Song,X., Liu,Z. and Yu,Z.
  TITLE     Investigation of Candidate Genes and Pathways in Basal/TNBC
            Patients by Integrated Analysis
  JOURNAL   Technol Cancer Res Treat 20, 15330338211019506 (2021)
   PUBMED   34184566
  REMARK    GeneRIF: Investigation of Candidate Genes and Pathways in
            Basal/TNBC Patients by Integrated Analysis.
REFERENCE   5  (bases 1 to 2004)
  AUTHORS   Turnpenny,P.D., Whittock,N., Duncan,J., Dunwoodie,S., Kusumi,K. and
            Ellard,S.
  TITLE     Novel mutations in DLL3, a somitogenesis gene encoding a ligand for
            the Notch signalling pathway, cause a consistent pattern of
            abnormal vertebral segmentation in spondylocostal dysostosis
  JOURNAL   J Med Genet 40 (5), 333-339 (2003)
   PUBMED   12746394
  REMARK    GeneRIF: mutations in DLL3 cause a consistent pattern of abnormal
            vertebral segmentation in spondylocostal dysostosis
REFERENCE   6  (bases 1 to 2004)
  AUTHORS   Dunwoodie,S.L., Clements,M., Sparrow,D.B., Sa,X., Conlon,R.A. and
            Beddington,R.S.
  TITLE     Axial skeletal defects caused by mutation in the spondylocostal
            dysplasia/pudgy gene Dll3 are associated with disruption of the
            segmentation clock within the presomitic mesoderm
  JOURNAL   Development 129 (7), 1795-1806 (2002)
   PUBMED   11923214
  REMARK    GeneRIF: We suggest that the three human DLL3 mutations associated
            with spondylocostal dysplasia are also functionally equivalent to
            the Dll3(neo) null allele in mice.
REFERENCE   7  (bases 1 to 2004)
  AUTHORS   Bulman,M.P., Kusumi,K., Frayling,T.M., McKeown,C., Garrett,C.,
            Lander,E.S., Krumlauf,R., Hattersley,A.T., Ellard,S. and
            Turnpenny,P.D.
  TITLE     Mutations in the human delta homologue, DLL3, cause axial skeletal
            defects in spondylocostal dysostosis
  JOURNAL   Nat Genet 24 (4), 438-441 (2000)
   PUBMED   10742114
REFERENCE   8  (bases 1 to 2004)
  AUTHORS   Turnpenny,P.D., Bulman,M.P., Frayling,T.M., Abu-Nasra,T.K.,
            Garrett,C., Hattersley,A.T. and Ellard,S.
  TITLE     A gene for autosomal recessive spondylocostal dysostosis maps to
            19q13.1-q13.3
  JOURNAL   Am J Hum Genet 65 (1), 175-182 (1999)
   PUBMED   10364530
REFERENCE   9  (bases 1 to 2004)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301771
REFERENCE   10 (bases 1 to 2004)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB035825.1, BC000218.2,
            AK075302.1 and AA865362.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_203486.2.
            
            Summary: This gene encodes a member of the delta protein ligand
            family. This family functions as Notch ligands that are
            characterized by a DSL domain, EGF repeats, and a transmembrane
            domain. Mutations in this gene cause autosomal recessive
            spondylocostal dysostosis 1. Two transcript variants encoding
            distinct isoforms have been identified for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) has a different splicing
            pattern at the 3' end compared to transcript variant 1. This
            results in an isoform (2) with a shorter C-terminus compared to
            isoform 1.
            
            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 :: AK075302.1, SRR14038192.841003.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356433.10/ ENSP00000348810.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-452               DB035825.1         31-482
            453-1701            BC000218.2         432-1680
            1702-2003           AK075302.1         1702-2003
            2004-2004           AA865362.1         19-19               c
FEATURES             Location/Qualifiers
     source          1..2004
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2004
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /note="delta like canonical Notch ligand 3"
                     /db_xref="GeneID:10683"
                     /db_xref="HGNC:HGNC:2909"
                     /db_xref="MIM:602768"
     exon            1..97
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1792
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; delta-like protein 3; delta3; drosophila Delta
                     homolog 3; delta-like 3"
                     /codon_start=1
                     /product="delta-like protein 3 isoform 2 precursor"
                     /protein_id="NP_982353.1"
                     /db_xref="CCDS:CCDS12537.1"
                     /db_xref="GeneID:10683"
                     /db_xref="HGNC:HGNC:2909"
                     /db_xref="MIM:602768"
                     /translation="MVSPRMSGLLSQTVILALIFLPQTRPAGVFELQIHSFGPGPGPG
                     APRSPCSARLPCRLFFRVCLKPGLSEEAAESPCALGAALSARGPVYTEQPGAPAPDLP
                     LPDGLLQVPFRDAWPGTFSFIIETWREELGDQIGGPAWSLLARVAGRRRLAAGGPWAR
                     DIQRAGAWELRFSYRARCEPPAVGTACTRLCRPRSAPSRCGPGLRPCAPLEDECEAPL
                     VCRAGCSPEHGFCEQPGECRCLEGWTGPLCTVPVSTSSCLSPRGPSSATTGCLVPGPG
                     PCDGNPCANGGSCSETPRSFECTCPRGFYGLRCEVSGVTCADGPCFNGGLCVGGADPD
                     SAYICHCPPGFQGSNCEKRVDRCSLQPCRNGGLCLDLGHALRCRCRAGFAGPRCEHDL
                     DDCAGRACANGGTCVEGGGAHRCSCALGFGGRDCRERADPCAARPCAHGGRCYAHFSG
                     LVCACAPGYMGARCEFPVHPDGASALPAAPPGLRPGDPQRYLLPPALGLLVAAGVAGA
                     ALLLVHVRRRGHSQDAGSRLLAGTPEPSVHALPDALNNLRTQEGSGDGPSSSVDWNRP
                     EDVDPQGIYVISAPSIYAREA"
     exon            98..379
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     exon            380..437
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     exon            438..680
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     exon            681..898
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1121
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1701
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1786
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1787..2004
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1982..1987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /note="hexamer: TATAAA"
     polyA_site      2004
                     /gene="DLL3"
                     /gene_synonym="SCDO1"
                     /note="major polyA site"
ORIGIN      
        1 actcccgaga cccccccacc agaaggccat ggtctcccca cggatgtccg ggctcctctc
       61 ccagactgtg atcctagcgc tcattttcct cccccagaca cggcccgctg gcgtcttcga
      121 gctgcagatc cactctttcg ggccgggtcc aggccctggg gccccgcggt ccccctgcag
      181 cgcccggctc ccctgccgcc tcttcttcag agtctgcctg aagcctgggc tctcagagga
      241 ggccgccgag tccccgtgcg ccctgggcgc ggcgctgagt gcgcgcggac cggtctacac
      301 cgagcagccc ggagcgcccg cgcctgatct cccactgccc gacggcctct tgcaggtgcc
      361 cttccgggac gcctggcctg gcaccttctc tttcatcatc gaaacctgga gagaggagtt
      421 aggagaccag attggagggc ccgcctggag cctgctggcg cgcgtggctg gcaggcggcg
      481 cttggcagcc ggaggcccgt gggcccggga cattcagcgc gcaggcgcct gggagctgcg
      541 cttctcgtac cgcgcgcgct gcgagccgcc tgccgtcggg accgcgtgca cgcgcctctg
      601 ccgtccgcgc agcgccccct cgcggtgcgg tccgggactg cgcccctgcg caccgctcga
      661 ggacgaatgt gaggcgccgc tggtgtgccg agcaggctgc agccctgagc atggcttctg
      721 tgaacagccc ggtgaatgcc gatgcctaga gggctggact ggacccctct gcacggtccc
      781 tgtctccacc agcagctgcc tcagccccag gggcccgtcc tctgctacca ccggatgcct
      841 tgtccctggg cctgggccct gtgacgggaa cccgtgtgcc aatggaggca gctgtagtga
      901 gacacccagg tcctttgaat gcacctgccc gcgtgggttc tacgggctgc ggtgtgaggt
      961 gagcggggtg acatgtgcag atggaccctg cttcaacggc ggcttgtgtg tcgggggtgc
     1021 agaccctgac tctgcctaca tctgccactg cccacccggt ttccaaggct ccaactgtga
     1081 gaagagggtg gaccggtgca gcctgcagcc atgccgcaat ggcggactct gcctggacct
     1141 gggccacgcc ctgcgctgcc gctgccgcgc cggcttcgcg ggtcctcgct gcgagcacga
     1201 cctggacgac tgcgcgggcc gcgcctgcgc taacggcggc acgtgtgtgg agggcggcgg
     1261 cgcgcaccgc tgctcctgcg cgctgggctt cggcggccgc gactgccgcg agcgcgcgga
     1321 cccgtgcgcc gcgcgcccct gtgctcacgg cggccgctgc tacgcccact tctccggcct
     1381 cgtctgcgct tgcgctcccg gctacatggg agcgcggtgt gagttcccag tgcaccccga
     1441 cggcgcaagc gccttgcccg cggccccgcc gggcctcagg cccggggacc ctcagcgcta
     1501 ccttttgcct ccggctctgg gactgctcgt ggccgcgggc gtggccggcg ctgcgctctt
     1561 gctggtccac gtgcgccgcc gtggccactc ccaggatgct gggtctcgct tgctggctgg
     1621 gaccccggag ccgtcagtcc acgcactccc ggatgcactc aacaacctaa ggacgcagga
     1681 gggttccggg gatggtccga gctcgtccgt agattggaat cgccctgaag atgtagaccc
     1741 tcaagggatt tatgtcatat ctgctccttc catctacgct cgggaggcct gacgcgtctc
     1801 ctccatccgc acctggagtc agagcgtgga tttttgtatt tgctcggtgg tgcccagtct
     1861 ctgccccaga ggctttggag ttcaatcttg aaggggtgtc tgggggaact ttactgttgc
     1921 aagttgtaaa taatggttat ttatatccta ttttttctca ccccatctct ctagaaacac
     1981 ctataaaggc tattattgtg atca
//
