2025-05-09 20:10:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024421 4225 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. ACCESSION NM_024421 VERSION NM_024421.2 GI:205277359 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 4225) AUTHORS Gourraud,P.A., Sdika,M., Khankhanian,P., Henry,R.G., Beheshtian,A., Matthews,P.M., Hauser,S.L., Oksenberg,J.R., Pelletier,D. and Baranzini,S.E. TITLE A genome-wide association study of brain lesion distribution in multiple sclerosis JOURNAL Brain 136 (PT 4), 1012-1024 (2013) PUBMED 23412934 REFERENCE 2 (bases 1 to 4225) AUTHORS Knosel,T., Chen,Y., Hotovy,S., Settmacher,U., Altendorf-Hofmann,A. and Petersen,I. TITLE Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma JOURNAL Int J Colorectal Dis 27 (11), 1391-1399 (2012) PUBMED 22438068 REMARK GeneRIF: High expression of desmocollin 1 (DSC1) was observed in 41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in 58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in 42.5%, and MDM2 in 0.2% of colorectal carcinomas. REFERENCE 3 (bases 1 to 4225) AUTHORS Toulza,E., Mattiuzzo,N.R., Galliano,M.F., Jonca,N., Dossat,C., Jacob,D., de Daruvar,A., Wincker,P., Serre,G. and Guerrin,M. TITLE Large-scale identification of human genes implicated in epidermal barrier function JOURNAL Genome Biol. 8 (6), R107 (2007) PUBMED 17562024 REFERENCE 4 (bases 1 to 4225) AUTHORS Khan,K., Hardy,R., Haq,A., Ogunbiyi,O., Morton,D. and Chidgey,M. TITLE Desmocollin switching in colorectal cancer JOURNAL Br. J. Cancer 95 (10), 1367-1370 (2006) PUBMED 17088906 REMARK GeneRIF: Increased Dsc1 protein is associated with colorectal cancer REFERENCE 5 (bases 1 to 4225) AUTHORS Descargues,P., Deraison,C., Prost,C., Fraitag,S., Mazereeuw-Hautier,J., D'Alessio,M., Ishida-Yamamoto,A., Bodemer,C., Zambruno,G. and Hovnanian,A. TITLE Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome JOURNAL J. Invest. Dermatol. 126 (7), 1622-1632 (2006) PUBMED 16628198 REMARK GeneRIF: in majority of patients with Netherton syndrome, Dsg1 & Dsc1 were reduced in living layers of epidermis; SCTE-like & SCCE-like activities were increased, suggesting these proteases participate in premature degradation of corneodesmosomal cadherins 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. On Sep 19, 2008 this sequence version replaced gi:13435360. 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. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (Dsc1a) is missing exon 16 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/partial sample support ERS025081, ERS025083 [ECO:0000350] ##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 1829-2639 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:3035" /db_xref="HPRD:00511" /db_xref="MIM:125643" exon 1..325 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" misc_feature 194..196 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="upstream in-frame stop codon" 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="GI:13435361" /db_xref="CCDS:CCDS11894.1" /db_xref="GeneID:1823" /db_xref="HGNC:3035" /db_xref="HPRD:00511" /db_xref="MIM:125643" /translation="
MALASAAPGSIFCKQLLFSLLVLTLLCDACQKVYLRVPSHLQAETLVGKVNLEECLKSASLIRSSDPAFRILEDGSIYTTHDLILSSERKSFSIFLSDGQRREQQEIKVVLSARENKSPKKRHTKDTALKRSKRRWAPIPASLMENSLGPFPQHVQQIQSDAAQNYTIFYSISGPGVDKEPFNLFYIEKDTGDIFCTRSIDREKYEQFALYGYATTADGYAPEYPLPLIIKIEDDNDNAPYFEHRVTIFTVPENCRSGTSVGKVTATDLDEPDTLHTRLKYKILQQIPDHPKHFSIHPDTGVITTTTPFLDREKCDTYQLIMEVRDMGGQPFGLFNTGTITISLEDENDNPPSFTETSYVTEVEENRIDVEILRMKVQDQDLPNTPHSKAVYKILQGNENGNFIISTDPNTNEGVLCVVKPLNYEVNRQVILQVGVINEAQFSKAASSQTPTMCTTTVTVKIIDSDEGPECHPPVKVIQSQDGFPAGQELLGYKALDPEISSGEGLRYQKLGDEDNWFEINQHTGDLRTLKVLDRESKFVKNNQYNISVVAVDAVGRSCTGTLVVHLDDYNDHAPQIDKEVTICQNNEDFAVLKPVDPDGPENGPPFQFFLDNSASKNWNIEEKDGKTAILRQRQNLDYNYYSVPIQIKDRHGLVATHMLTVRVCDCSTPSECRMKDKSTRDVRPNVILGRWAILAMVLGSVLLLCILFTCFCVTAKRTVKKCFPEDIAQQNLIVSNTEGPGEEVTEANIRLPMQTSNICDTSMSVGTVGGQGIKTQQSFEMVKGGYTLDSNKGGGHQTLESVKGVGQGDTGRYAYTDWQSFTQPRLGEKVYLCGQDEEHKHCEDYVCSYNYEGKGSLAGSVGCCSDRQEEEGLEFLDHLEPKFRTLAKTCIKK
" sig_peptide 263..349 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" misc_feature 347..589 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Cadherin prodomain like; Region: Cadherin_pro; smart01055" /db_xref="CDD:198123" proprotein 350..2944 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /product="desmocollin-1 isoform Dsc1a proprotein" mat_peptide 665..2944 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /product="desmocollin-1 isoform Dsc1a" misc_feature 674..976 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Cadherin tandem repeat domain; Region: Cadherin_repeat; cd11304" /db_xref="CDD:206637" misc_feature order(695..700,863..865,869..871,962..964,968..973) /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:206637" misc_feature 1007..1312 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Cadherin tandem repeat domain; Region: Cadherin_repeat; cd11304" /db_xref="CDD:206637" misc_feature order(1019..1024,1193..1195,1199..1201,1298..1300, 1304..1309) /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:206637" misc_feature 1334..1609 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Cadherin tandem repeat domain; Region: Cadherin_repeat; cd11304" /db_xref="CDD:206637" misc_feature order(1355..1360,1529..1531,1535..1537) /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:206637" misc_feature 1415..1417 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (Q08554.2); phosphorylation site" misc_feature 1715..1981 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Cadherin tandem repeat domain; Region: Cadherin_repeat; cd11304" /db_xref="CDD:206637" misc_feature order(1862..1864,1868..1870,1967..1969,1973..1978) /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:206637" misc_feature 2000..2257 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Cadherin repeat-like domain; Region: CA_like; cl15786" /db_xref="CDD:211469" misc_feature 2336..2404 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q08554.2); transmembrane region" misc_feature 2675..2935 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /note="Cadherin cytoplasmic region; Region: Cadherin_C; pfam01049" /db_xref="CDD:163601" exon 326..410 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 411..613 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 614..733 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 734..889 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" variation 877 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /replace="c" /replace="t" /db_xref="dbSNP:2249810" exon 890..1034 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 1035..1201 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 1202..1336 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 1337..1522 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" variation 1381 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /replace="a" /replace="g" /db_xref="dbSNP:2577074" variation 1445 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /replace="c" /replace="t" /db_xref="dbSNP:2577075" exon 1523..1782 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 1783..1925 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 1926..2138 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 2139..2378 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 2379..2500 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 2501..2749 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" exon 2750..4225 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /inference="alignment:Splign:1.39.8" variation 2805 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /replace="g" /replace="t" /db_xref="dbSNP:985861" variation 2809 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /replace="g" /replace="t" /db_xref="dbSNP:1816634" STS 2832..3035 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /standard_name="SGC35630" /db_xref="UniSTS:37543" variation 2992 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /replace="a" /replace="g" /db_xref="dbSNP:985862" variation 3596 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /replace="a" /replace="g" /db_xref="dbSNP:2740995" STS 3737..3935 /gene="DSC1" /gene_synonym="CDHF1; DG2/DG3" /standard_name="RH18129" /db_xref="UniSTS:87572" ORIGIN
acttgtaggaaagcctctttgcatttagacgtaattgaactggaaggaaggagactggccagggaatagggggaaagaaattctcccgttgctcctcctactgtttatcacttgcctccggactgtcttccaaaccaagctcagctgcatcaaggtggcagcagaataccctgtgcaagtgccagcgtcttcttagccgctctgtgcatcccaggctgccctgttatctggccaccgtccctggccattgggactgcttctgatggctctggcctctgctgccccagggagcatcttctgtaagcagctccttttctctctcctggttttaacattactttgcgatgcttgtcagaaagtttatcttcgagttccttctcatcttcaggctgaaacacttgtaggcaaagtgaatctggaggagtgtctcaagtcggccagcctaatccggtccagtgaccctgccttcagaattctagaagatggctcaatttacacaacacatgacctcattttgtcttctgaaaggaaaagtttttccattttcctttcagatggtcagagacgggaacaacaagagataaaagttgtactgtcagcaagagaaaacaagtctcctaagaagagacataccaaagacacagccctcaagcgcagcaagagacgatgggctcctattccagcttcattgatggagaactcgttgggtccatttccacaacacgttcagcagatccaatctgatgctgcacagaattacaccatcttttattccataagtgggccaggcgtggacaaagaacccttcaatttgttttacatagagaaagacactggggatatcttttgtacaaggagcattgaccgtgagaaatatgaacagtttgcgttatatggctatgcaacaactgcagatggctatgcaccagaatatccactccctttgatcatcaaaattgaagatgataatgataacgccccatattttgaacacagagtgactatctttactgtgcctgaaaattgccgatccggaacttcagtgggaaaagtgaccgccacagaccttgacgaacctgacactctccatactcgtctgaaatataaaatcttacaacaaatcccagatcatccaaagcatttctccatacacccagataccggtgtcatcaccacaactacaccttttctggatagagaaaaatgtgatacttaccagttaataatggaagtgcgagacatgggtggtcagcctttcggtttatttaatacaggaacaattactatttcacttgaggatgaaaatgacaatccaccatctttcacagaaacttcttatgttacagaagtagaagaaaacagaattgacgtggagattttacgaatgaaggtacaggatcaggatttgccaaacactcctcactcaaaggctgtatacaaaatcctacaaggaaatgaaaatggaaacttcataattagcacagatccaaatacaaatgaaggagtgctgtgtgttgtcaagccattgaactatgaagtcaatcgccaagttattttgcaagttggtgtcattaacgaggcacaattctctaaagcagcgagctcacaaactcctacaatgtgcactacaactgtcaccgttaaaattatagacagtgatgagggccctgaatgccaccctccagtgaaagttattcagagtcaagatggcttcccagctggccaagaactccttggatacaaagcactggacccggaaatatccagtggtgaaggcttaaggtatcagaagttaggggatgaagataactggtttgaaattaatcaacacactggcgacttgagaactctaaaagtactagatagagaatccaaatttgtaaaaaacaaccaatacaatatttcagttgttgcagtggatgcagttggccgatcttgcactggaacattagtagttcatttggatgattacaacgatcacgcacctcaaattgacaaagaagtgaccatttgtcagaataatgaggattttgctgttctgaaacctgtagatccagatggacctgaaaatggaccaccttttcaattctttctggataattctgccagtaaaaactggaacatagaagaaaaggatggtaaaactgccattcttcgtcaacggcaaaatcttgattataactattattctgtgcctattcaaataaaagacaggcatggtttagttgcaacacatatgttaacagtgagagtatgtgactgttcaactccatctgagtgtagaatgaaggataaaagtacaagagacgttagaccaaatgtaatacttggaagatgggctattcttgctatggtgttgggttctgtattgttattatgtattctgtttacatgtttctgtgtcactgctaagagaacagtcaagaaatgttttccagaagacatagcccagcaaaatttaattgtatcaaatactgaaggacctggagaagaagtaacggaagcaaatattagactccccatgcagacatccaacatttgtgacacaagcatgtctgttggtactgttggtggccagggaatcaaaacacagcaaagttttgagatggtcaaaggaggctacactttggattccaacaaaggaggtggacatcagaccttggagtccgtcaagggagtggggcagggagatactggcagatatgcgtacacggactggcagagtttcacccaacctcggcttggcgaaaaggtgtatttgtgtggacaagatgaggagcataaacattgtgaagactacgtttgttcgtataactatgaaggcaaaggttctctggccggctcagtaggttgctgcagcgatcggcaggaagaagagggactggagtttctagatcacctggaacccaaatttaggacattagcaaagacatgcatcaagaaataaatgtgccttttaatagtgtaatatccacagatgcataagtaggaatttattacttgcagaatgttagcagcatctgctaatgtttttgtttatggaggtaaactttgtcatgtataggtaagggtactataaatatgagattcccctacattctccttgtctggtataacttccatgttctctagaaatcaaggttttgtttgttaattctcttttatatgcatgtatatattgcccttttcacgactgtactgtacaccttcttgcaccttttatttgcaaactgatgttactttttgtgctgtggaagagcatttgggaaagctgggtattatagaggccaatgaaagatgaatttgcattgtagatgtacgaattaaatatgttcttcaaaatcttggggagaattatgttcttagaacatagttggtgccagataattgcattctctccacctgagtggtttaaaaaggacttttaagtattcttcagtgcaatcttcagttttgtgattaagttcatttctcttttacacttttgtactcctcagagcagtgctcccagcattgttttctttcaggatccttcagagctcagtccctggacctctgcccatgtggatttgttgttaggtcactccaacttctagggttcttggaaagataaggaccagaacaagctcatagcaaattgaggggcagagattttatgaagattacatgagaagatttccatgaaagaattgcagccctgaggtccatgggttgacttatgctcacaaatatgtttcgtttgctcaacatggtttactactaacattttaaaaatataaatactttagcaaaaacattcactcttgagtttgacataggcctgccttatctgtggttgccacctgccatctccaagcatttggacaactagccctgatgcattaggctgcaactctgatatacagagactagcaccttgaatatgccagaaattgaattaccatctgtattagaacttaagactcagcctaaatttacagttactttaagaaaatgggcagtcagaattagggactagaatgtatatgagaaacccccactctactaaaaatataagaaattagccggacatggtggcgaatgactgtaatcccagctactcaggaggctgaggcaggagaatcgcttgaatccaggaggcggaggttgcagtgagccgagattgccactgcactccagcctgggcaacaagagcgaaactccgtctcaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1823 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA GeneID:1823 -> Biological process: GO:0007156 [homophilic cell adhesion] evidence: IEA GeneID:1823 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:1823 -> Cellular component: GO:0005921 [gap junction] evidence: TAS GeneID:1823 -> Cellular component: GO:0016020 [membrane] evidence: TAS GeneID:1823 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:1823 -> Cellular component: GO:0030057 [desmosome] evidence: IEA
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