LOCUS       NM_024421               4225 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.
ACCESSION   NM_024421
VERSION     NM_024421.2
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 4225)
  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 4225)
  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 4225)
  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 4225)
  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 4225)
  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 4225)
  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 4225)
  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 4225)
  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 4225)
  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 4225)
  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, CU447407.1 and CU444724.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 19, 2008 this sequence version replaced NM_024421.1.
            
            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 (Dsc1a) represents the shorter
            transcript and encodes the longer 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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000257198.6/ ENSP00000257198.6
            RefSeq Select criteria    :: based on conservation, longest protein
            ##RefSeq-Attributes-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
            1829-2639           X72925.1           1829-2639
            2640-3302           CU444724.1         18-680
            3303-3595           X72925.1           3349-3641
            3596-3596           AC012417.13        59590-59590
            3597-4225           X72925.1           3643-4271
FEATURES             Location/Qualifiers
     source          1..4225
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..4225
                     /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..2947
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /note="isoform Dsc1a preproprotein is encoded by
                     transcript variant Dsc1a; desmosomal glycoprotein 2/3;
                     cadherin family member 1"
                     /codon_start=1
                     /product="desmocollin-1 isoform Dsc1a preproprotein"
                     /protein_id="NP_077739.1"
                     /db_xref="CCDS:CCDS11894.1"
                     /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
                     TLESVKGVGQGDTGRYAYTDWQSFTQPRLGEKVYLCGQDEEHKHCEDYVCSYNYEGKG
                     SLAGSVGCCSDRQEEEGLEFLDHLEPKFRTLAKTCIKK"
     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..4225
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3323..3328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DSC1"
                     /gene_synonym="CDHF1; DG2/DG3"
                     /note="hexamer: ATTAAA"
     polyA_site      3342
                     /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 cttggcgaaa aggtgtattt
     2761 gtgtggacaa gatgaggagc ataaacattg tgaagactac gtttgttcgt ataactatga
     2821 aggcaaaggt tctctggccg gctcagtagg ttgctgcagc gatcggcagg aagaagaggg
     2881 actggagttt ctagatcacc tggaacccaa atttaggaca ttagcaaaga catgcatcaa
     2941 gaaataaatg tgccttttaa tagtgtaata tccacagatg cataagtagg aatttattac
     3001 ttgcagaatg ttagcagcat ctgctaatgt ttttgtttat ggaggtaaac tttgtcatgt
     3061 ataggtaagg gtactataaa tatgagattc ccctacattc tccttgtctg gtataacttc
     3121 catgttctct agaaatcaag gttttgtttg ttaattctct tttatatgca tgtatatatt
     3181 gcccttttca cgactgtact gtacaccttc ttgcaccttt tatttgcaaa ctgatgttac
     3241 tttttgtgct gtggaagagc atttgggaaa gctgggtatt atagaggcca atgaaagatg
     3301 aatttgcatt gtagatgtac gaattaaata tgttcttcaa aatcttgggg agaattatgt
     3361 tcttagaaca tagttggtgc cagataattg cattctctcc acctgagtgg tttaaaaagg
     3421 acttttaagt attcttcagt gcaatcttca gttttgtgat taagttcatt tctcttttac
     3481 acttttgtac tcctcagagc agtgctccca gcattgtttt ctttcaggat ccttcagagc
     3541 tcagtccctg gacctctgcc catgtggatt tgttgttagg tcactccaac ttctagggtt
     3601 cttggaaaga taaggaccag aacaagctca tagcaaattg aggggcagag attttatgaa
     3661 gattacatga gaagatttcc atgaaagaat tgcagccctg aggtccatgg gttgacttat
     3721 gctcacaaat atgtttcgtt tgctcaacat ggtttactac taacatttta aaaatataaa
     3781 tactttagca aaaacattca ctcttgagtt tgacataggc ctgccttatc tgtggttgcc
     3841 acctgccatc tccaagcatt tggacaacta gccctgatgc attaggctgc aactctgata
     3901 tacagagact agcaccttga atatgccaga aattgaatta ccatctgtat tagaacttaa
     3961 gactcagcct aaatttacag ttactttaag aaaatgggca gtcagaatta gggactagaa
     4021 tgtatatgag aaacccccac tctactaaaa atataagaaa ttagccggac atggtggcga
     4081 atgactgtaa tcccagctac tcaggaggct gaggcaggag aatcgcttga atccaggagg
     4141 cggaggttgc agtgagccga gattgccact gcactccagc ctgggcaaca agagcgaaac
     4201 tccgtctcaa aaaaaaaaaa aaaaa
//
