LOCUS       NM_004948               4271 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1b, mRNA.
ACCESSION   NM_004948
VERSION     NM_004948.3
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 4271)
  AUTHORS   Lapcik,P., Sulc,P., Janacova,L., Jilkova,K., Potesil,D.,
            Bouchalova,P., Muller,P. and Bouchal,P.
  TITLE     Desmocollin-1 is associated with pro-metastatic phenotype of
            luminal A breast cancer cells and is modulated by parthenolide
  JOURNAL   Cell Mol Biol Lett 28 (1), 68 (2023)
   PUBMED   37620794
  REMARK    GeneRIF: Desmocollin-1 is associated with pro-metastatic phenotype
            of luminal A breast cancer cells and is modulated by parthenolide.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4271)
  AUTHORS   Sliz,E., Huilaja,L., Pasanen,A., Laisk,T., Reimann,E., Magi,R.,
            Hannula-Jouppi,K., Peltonen,S., Salmi,T., Koulu,L., Tasanen,K. and
            Kettunen,J.
  CONSRTM   FinnGen; Estonian Biobank Research Team
  TITLE     Uniting biobank resources reveals novel genetic pathways modulating
            susceptibility for atopic dermatitis
  JOURNAL   J Allergy Clin Immunol 149 (3), 1105-1112 (2022)
   PUBMED   34454985
  REMARK    GeneRIF: Uniting biobank resources reveals novel genetic pathways
            modulating susceptibility for atopic dermatitis.
REFERENCE   3  (bases 1 to 4271)
  AUTHORS   Zhang,Z., Zhu,H. and Hu,J.
  TITLE     CircRAB11FIP1 promoted autophagy flux of ovarian cancer through
            DSC1 and miR-129
  JOURNAL   Cell Death Dis 12 (2), 219 (2021)
   PUBMED   33637694
  REMARK    GeneRIF: CircRAB11FIP1 promoted autophagy flux of ovarian cancer
            through DSC1 and miR-129.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4271)
  AUTHORS   Faktor,J., Knopfova,L., Lapcik,P., Janacova,L., Paralova,V.,
            Bouchalova,P., Muller,P., Benes,P. and Bouchal,P.
  TITLE     Proteomics Identification and Validation of Desmocollin-1 and
            Catechol-O-Methyltransferase as Proteins Associated with Breast
            Cancer Cell Migration and Metastasis
  JOURNAL   Proteomics 19 (21-22), e1900073 (2019)
   PUBMED   31617665
  REMARK    GeneRIF: desmocollin-1 (DSC1) is validated as a protein connected
            with lymph node status of luminal A breast cancer, tumor grade, and
            Her-2 status and catechol-O-methyltransferase is successfully
            verified as a protein associated with lymph node metastasis of
            triple negative breast cancer.
REFERENCE   5  (bases 1 to 4271)
  AUTHORS   Wang,Y. and Tatakis,D.N.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: DSC1 expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   6  (bases 1 to 4271)
  AUTHORS   King,I.A., Sullivan,K.H., Bennett,R. Jr. and Buxton,R.S.
  TITLE     The desmocollins of human foreskin epidermis: identification and
            chromosomal assignment of a third gene and expression patterns of
            the three isoforms
  JOURNAL   J Invest Dermatol 105 (3), 314-321 (1995)
   PUBMED   7665906
REFERENCE   7  (bases 1 to 4271)
  AUTHORS   Troyanovsky,S.M., Troyanovsky,R.B., Eshkind,L.G., Leube,R.E. and
            Franke,W.W.
  TITLE     Identification of amino acid sequence motifs in desmocollin, a
            desmosomal glycoprotein, that are required for plakoglobin binding
            and plaque formation
  JOURNAL   Proc Natl Acad Sci U S A 91 (23), 10790-10794 (1994)
   PUBMED   7971964
REFERENCE   8  (bases 1 to 4271)
  AUTHORS   King,I.A., Arnemann,J., Spurr,N.K. and Buxton,R.S.
  TITLE     Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and
            its assignment to chromosome 18
  JOURNAL   Genomics 18 (2), 185-194 (1993)
   PUBMED   8288219
REFERENCE   9  (bases 1 to 4271)
  AUTHORS   Troyanovsky,S.M., Eshkind,L.G., Troyanovsky,R.B., Leube,R.E. and
            Franke,W.W.
  TITLE     Contributions of cytoplasmic domains of desmosomal cadherins to
            desmosome assembly and intermediate filament anchorage
  JOURNAL   Cell 72 (4), 561-574 (1993)
   PUBMED   7679953
REFERENCE   10 (bases 1 to 4271)
  AUTHORS   King,I.A., Magee,A.I., Rees,D.A. and Buxton,R.S.
  TITLE     Keratinization is associated with the expression of a new protein
            related to the desmosomal cadherins DGII/III
  JOURNAL   FEBS Lett 286 (1-2), 9-12 (1991)
   PUBMED   1713860
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X72925.1, Z34522.1, AC012417.13
            and CU447407.1.
            
            On Sep 19, 2008 this sequence version replaced NM_004948.2.
            
            Summary: The protein encoded by this gene is a calcium-dependent
            glycoprotein that is a member of the desmocollin subfamily of the
            cadherin superfamily. These desmosomal family members, along with
            the desmogleins, are found primarily in epithelial cells where they
            constitute the adhesive proteins of the desmosome cell-cell
            junction and are required for cell adhesion and desmosome
            formation. A subtype of IgA pemphigus, a life-threatening
            autoimmune disease, is characterized by the presence of
            autoantibodies that target the encoded protein. The desmosomal
            family members are arranged in two clusters on chromosome 18.
            Alternative splicing of this gene results in multiple transcript
            variants. At least one of these variants encodes a preproprotein
            that is proteolytically processed to generate the mature protein.
            [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (Dsc1b) includes an alternate exon
            in the 3' coding region, resulting in a frameshift and an early
            stop codon, compared to isoform Dsc1a. The encoded isoform (Dsc1b)
            is shorter than isoform Dsc1a. This isoform (Dsc1b) may undergo
            proteolytic processing similar to isoform Dsc1a.
            
            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 :: X72925.1, Z34522.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-876               X72925.1           1-876
            877-1380            Z34522.1           805-1308
            1381-1381           AC012417.13        47315-47315
            1382-1828           CU447407.1         18-464              c
            1829-3641           X72925.1           1829-3641
            3642-3642           AC012417.13        59590-59590
            3643-4271           X72925.1           3643-4271
FEATURES             Location/Qualifiers
     source          1..4271
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..4271
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /note="desmocollin 1"
                     /db_xref="GeneID:1823"
                     /db_xref="HGNC:HGNC:3035"
                     /db_xref="MIM:125643"
     exon            1..325
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             263..2785
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /note="isoform Dsc1b precursor is encoded by transcript
                     variant Dsc1b; desmosomal glycoprotein 2/3; cadherin
                     family member 1"
                     /codon_start=1
                     /product="desmocollin-1 isoform Dsc1b precursor"
                     /protein_id="NP_004939.1"
                     /db_xref="CCDS:CCDS11895.1"
                     /db_xref="GeneID:1823"
                     /db_xref="HGNC:HGNC:3035"
                     /db_xref="MIM:125643"
                     /translation="MALASAAPGSIFCKQLLFSLLVLTLLCDACQKVYLRVPSHLQAE
                     TLVGKVNLEECLKSASLIRSSDPAFRILEDGSIYTTHDLILSSERKSFSIFLSDGQRR
                     EQQEIKVVLSARENKSPKKRHTKDTALKRSKRRWAPIPASLMENSLGPFPQHVQQIQS
                     DAAQNYTIFYSISGPGVDKEPFNLFYIEKDTGDIFCTRSIDREKYEQFALYGYATTAD
                     GYAPEYPLPLIIKIEDDNDNAPYFEHRVTIFTVPENCRSGTSVGKVTATDLDEPDTLH
                     TRLKYKILQQIPDHPKHFSIHPDTGVITTTTPFLDREKCDTYQLIMEVRDMGGQPFGL
                     FNTGTITISLEDENDNPPSFTETSYVTEVEENRIDVEILRMKVQDQDLPNTPHSKAVY
                     KILQGNENGNFIISTDPNTNEGVLCVVKPLNYEVNRQVILQVGVINEAQFSKAASSQT
                     PTMCTTTVTVKIIDSDEGPECHPPVKVIQSQDGFPAGQELLGYKALDPEISSGEGLRY
                     QKLGDEDNWFEINQHTGDLRTLKVLDRESKFVKNNQYNISVVAVDAVGRSCTGTLVVH
                     LDDYNDHAPQIDKEVTICQNNEDFAVLKPVDPDGPENGPPFQFFLDNSASKNWNIEEK
                     DGKTAILRQRQNLDYNYYSVPIQIKDRHGLVATHMLTVRVCDCSTPSECRMKDKSTRD
                     VRPNVILGRWAILAMVLGSVLLLCILFTCFCVTAKRTVKKCFPEDIAQQNLIVSNTEG
                     PGEEVTEANIRLPMQTSNICDTSMSVGTVGGQGIKTQQSFEMVKGGYTLDSNKGGGHQ
                     TLESVKGVGQGDTGRYAYTDWQSFTQPRLGEESIRGHTLIKN"
     exon            326..410
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            411..613
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            614..733
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            734..889
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1034
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1201
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1336
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1522
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1782
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1783..1925
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1926..2138
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            2139..2378
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            2379..2500
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            2501..2749
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            2750..2795
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     exon            2796..4271
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3369..3374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /note="hexamer: ATTAAA"
     polyA_site      3388
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /note="major polyA site"
ORIGIN      
        1 acttgtagga aagcctcttt gcatttagac gtaattgaac tggaaggaag gagactggcc
       61 agggaatagg gggaaagaaa ttctcccgtt gctcctccta ctgtttatca cttgcctccg
      121 gactgtcttc caaaccaagc tcagctgcat caaggtggca gcagaatacc ctgtgcaagt
      181 gccagcgtct tcttagccgc tctgtgcatc ccaggctgcc ctgttatctg gccaccgtcc
      241 ctggccattg ggactgcttc tgatggctct ggcctctgct gccccaggga gcatcttctg
      301 taagcagctc cttttctctc tcctggtttt aacattactt tgcgatgctt gtcagaaagt
      361 ttatcttcga gttccttctc atcttcaggc tgaaacactt gtaggcaaag tgaatctgga
      421 ggagtgtctc aagtcggcca gcctaatccg gtccagtgac cctgccttca gaattctaga
      481 agatggctca atttacacaa cacatgacct cattttgtct tctgaaagga aaagtttttc
      541 cattttcctt tcagatggtc agagacggga acaacaagag ataaaagttg tactgtcagc
      601 aagagaaaac aagtctccta agaagagaca taccaaagac acagccctca agcgcagcaa
      661 gagacgatgg gctcctattc cagcttcatt gatggagaac tcgttgggtc catttccaca
      721 acacgttcag cagatccaat ctgatgctgc acagaattac accatctttt attccataag
      781 tgggccaggc gtggacaaag aacccttcaa tttgttttac atagagaaag acactgggga
      841 tatcttttgt acaaggagca ttgaccgtga gaaatatgaa cagtttgcgt tatatggcta
      901 tgcaacaact gcagatggct atgcaccaga atatccactc cctttgatca tcaaaattga
      961 agatgataat gataacgccc catattttga acacagagtg actatcttta ctgtgcctga
     1021 aaattgccga tccggaactt cagtgggaaa agtgaccgcc acagaccttg acgaacctga
     1081 cactctccat actcgtctga aatataaaat cttacaacaa atcccagatc atccaaagca
     1141 tttctccata cacccagata ccggtgtcat caccacaact acaccttttc tggatagaga
     1201 aaaatgtgat acttaccagt taataatgga agtgcgagac atgggtggtc agcctttcgg
     1261 tttatttaat acaggaacaa ttactatttc acttgaggat gaaaatgaca atccaccatc
     1321 tttcacagaa acttcttatg ttacagaagt agaagaaaac agaattgacg tggagatttt
     1381 acgaatgaag gtacaggatc aggatttgcc aaacactcct cactcaaagg ctgtatacaa
     1441 aatcctacaa ggaaatgaaa atggaaactt cataattagc acagatccaa atacaaatga
     1501 aggagtgctg tgtgttgtca agccattgaa ctatgaagtc aatcgccaag ttattttgca
     1561 agttggtgtc attaacgagg cacaattctc taaagcagcg agctcacaaa ctcctacaat
     1621 gtgcactaca actgtcaccg ttaaaattat agacagtgat gagggccctg aatgccaccc
     1681 tccagtgaaa gttattcaga gtcaagatgg cttcccagct ggccaagaac tccttggata
     1741 caaagcactg gacccggaaa tatccagtgg tgaaggctta aggtatcaga agttagggga
     1801 tgaagataac tggtttgaaa ttaatcaaca cactggcgac ttgagaactc taaaagtact
     1861 agatagagaa tccaaatttg taaaaaacaa ccaatacaat atttcagttg ttgcagtgga
     1921 tgcagttggc cgatcttgca ctggaacatt agtagttcat ttggatgatt acaacgatca
     1981 cgcacctcaa attgacaaag aagtgaccat ttgtcagaat aatgaggatt ttgctgttct
     2041 gaaacctgta gatccagatg gacctgaaaa tggaccacct tttcaattct ttctggataa
     2101 ttctgccagt aaaaactgga acatagaaga aaaggatggt aaaactgcca ttcttcgtca
     2161 acggcaaaat cttgattata actattattc tgtgcctatt caaataaaag acaggcatgg
     2221 tttagttgca acacatatgt taacagtgag agtatgtgac tgttcaactc catctgagtg
     2281 tagaatgaag gataaaagta caagagacgt tagaccaaat gtaatacttg gaagatgggc
     2341 tattcttgct atggtgttgg gttctgtatt gttattatgt attctgttta catgtttctg
     2401 tgtcactgct aagagaacag tcaagaaatg ttttccagaa gacatagccc agcaaaattt
     2461 aattgtatca aatactgaag gacctggaga agaagtaacg gaagcaaata ttagactccc
     2521 catgcagaca tccaacattt gtgacacaag catgtctgtt ggtactgttg gtggccaggg
     2581 aatcaaaaca cagcaaagtt ttgagatggt caaaggaggc tacactttgg attccaacaa
     2641 aggaggtgga catcagacct tggagtccgt caagggagtg gggcagggag atactggcag
     2701 atatgcgtac acggactggc agagtttcac ccaacctcgg cttggcgaag aatccattag
     2761 aggacacact ctgattaaaa attaaacagt aaaagaaggt gtatttgtgt ggacaagatg
     2821 aggagcataa acattgtgaa gactacgttt gttcgtataa ctatgaaggc aaaggttctc
     2881 tggccggctc agtaggttgc tgcagcgatc ggcaggaaga agagggactg gagtttctag
     2941 atcacctgga acccaaattt aggacattag caaagacatg catcaagaaa taaatgtgcc
     3001 ttttaatagt gtaatatcca cagatgcata agtaggaatt tattacttgc agaatgttag
     3061 cagcatctgc taatgttttt gtttatggag gtaaactttg tcatgtatag gtaagggtac
     3121 tataaatatg agattcccct acattctcct tgtctggtat aacttccatg ttctctagaa
     3181 atcaaggttt tgtttgttaa ttctctttta tatgcatgta tatattgccc ttttcacgac
     3241 tgtactgtac accttcttgc accttttatt tgcaaactga tgttactttt tgtgctgtgg
     3301 aagagcattt gggaaagctg ggtattatag aggccaatga aagatgaatt tgcattgtag
     3361 atgtacgaat taaatatgtt cttcaaaatc ttggggagaa ttatgttctt agaacatagt
     3421 tggtgccaga taattgcatt ctctccacct gagtggttta aaaaggactt ttaagtattc
     3481 ttcagtgcaa tcttcagttt tgtgattaag ttcatttctc ttttacactt ttgtactcct
     3541 cagagcagtg ctcccagcat tgttttcttt caggatcctt cagagctcag tccctggacc
     3601 tctgcccatg tggatttgtt gttaggtcac tccaacttct agggttcttg gaaagataag
     3661 gaccagaaca agctcatagc aaattgaggg gcagagattt tatgaagatt acatgagaag
     3721 atttccatga aagaattgca gccctgaggt ccatgggttg acttatgctc acaaatatgt
     3781 ttcgtttgct caacatggtt tactactaac attttaaaaa tataaatact ttagcaaaaa
     3841 cattcactct tgagtttgac ataggcctgc cttatctgtg gttgccacct gccatctcca
     3901 agcatttgga caactagccc tgatgcatta ggctgcaact ctgatataca gagactagca
     3961 ccttgaatat gccagaaatt gaattaccat ctgtattaga acttaagact cagcctaaat
     4021 ttacagttac tttaagaaaa tgggcagtca gaattaggga ctagaatgta tatgagaaac
     4081 ccccactcta ctaaaaatat aagaaattag ccggacatgg tggcgaatga ctgtaatccc
     4141 agctactcag gaggctgagg caggagaatc gcttgaatcc aggaggcgga ggttgcagtg
     4201 agccgagatt gccactgcac tccagcctgg gcaacaagag cgaaactccg tctcaaaaaa
     4261 aaaaaaaaaa a
//
