LOCUS       NP_001278733             886 aa            linear   ROD 27-APR-2025
DEFINITION  desmocollin-1 isoform 1 preproprotein [Mus musculus].
ACCESSION   NP_001278733 XP_006525654
VERSION     NP_001278733.1
DBSOURCE    REFSEQ: accession NM_001291804.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 886)
  AUTHORS   Xu,T., Herkens,L., Jia,T., Klinkhammer,B.M., Kant,S., Krusche,C.A.,
            Buhl,E.M., Hayat,S., Floege,J., Strnad,P., Kramann,R., Djudjaj,S.
            and Boor,P.
  TITLE     The role of desmoglein-2 in kidney disease
  JOURNAL   Kidney Int 105 (5), 1035-1048 (2024)
   PUBMED   38395410
REFERENCE   2  (residues 1 to 886)
  AUTHORS   Godsel,L.M., Roth-Carter,Q.R., Koetsier,J.L., Tsoi,L.C.,
            Huffine,A.L., Broussard,J.A., Fitz,G.N., Lloyd,S.M., Kweon,J.,
            Burks,H.E., Hegazy,M., Amagai,S., Harms,P.W., Xing,X., Kirma,J.,
            Johnson,J.L., Urciuoli,G., Doglio,L.T., Swindell,W.R.,
            Awatramani,R., Sprecher,E., Bao,X., Cohen-Barak,E., Missero,C.,
            Gudjonsson,J.E. and Green,K.J.
  TITLE     Translational implications of Th17-skewed inflammation due to
            genetic deficiency of a cadherin stress sensor
  JOURNAL   J Clin Invest 132 (3) (2022)
   PUBMED   34905516
REFERENCE   3  (residues 1 to 886)
  AUTHORS   Quispe Calla,N.E., Vicetti Miguel,R.D., Aceves,K.M., Torres,A. and
            Cherpes,T.L.
  TITLE     Depot-medroxyprogesterone acetate reduces genital cell-cell
            adhesion molecule expression and increases genital herpes simplex
            virus type 2 infection susceptibility in a dose-dependent fashion
  JOURNAL   Contraception 100 (5), 397-401 (2019)
   PUBMED   31302121
  REMARK    GeneRIF: Depot-medroxyprogesterone acetate reduces genital
            cell-cell adhesion molecule expression and increases genital herpes
            simplex virus type 2 infection susceptibility in a dose-dependent
            fashion.
REFERENCE   4  (residues 1 to 886)
  AUTHORS   Choi,Y.J., Laclef,C., Yang,N., Andreu-Cervera,A., Lewis,J., Mao,X.,
            Li,L., Snedecor,E.R., Takemaru,K.I., Qin,C., Schneider-Maunoury,S.,
            Shroyer,K.R., Hannun,Y.A., Koch,P.J., Clark,R.A., Payne,A.S.,
            Kowalczyk,A.P. and Chen,J.
  TITLE     RPGRIP1L is required for stabilizing epidermal keratinocyte
            adhesion through regulating desmoglein endocytosis
  JOURNAL   PLoS Genet 15 (1), e1007914 (2019)
   PUBMED   30689641
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 886)
  AUTHORS   Cheng,X., Mihindukulasuriya,K., Den,Z., Kowalczyk,A.P.,
            Calkins,C.C., Ishiko,A., Shimizu,A. and Koch,P.J.
  TITLE     Assessment of splice variant-specific functions of desmocollin 1 in
            the skin
  JOURNAL   Mol Cell Biol 24 (1), 154-163 (2004)
   PUBMED   14673151
REFERENCE   6  (residues 1 to 886)
  AUTHORS   Henkler,F., Strom,M., Mathers,K., Cordingley,H., Sullivan,K. and
            King,I.
  TITLE     Trangenic misexpression of the differentiation-specific desmocollin
            isoform 1 in basal keratinocytes
  JOURNAL   J Invest Dermatol 116 (1), 144-149 (2001)
   PUBMED   11168810
REFERENCE   7  (residues 1 to 886)
  AUTHORS   Bierkamp,C., Schwarz,H., Huber,O. and Kemler,R.
  TITLE     Desmosomal localization of beta-catenin in the skin of plakoglobin
            null-mutant mice
  JOURNAL   Development 126 (2), 371-381 (1999)
   PUBMED   9847250
REFERENCE   8  (residues 1 to 886)
  AUTHORS   King,I.A., Angst,B.D., Hunt,D.M., Kruger,M., Arnemann,J. and
            Buxton,R.S.
  TITLE     Hierarchical expression of desmosomal cadherins during stratified
            epithelial morphogenesis in the mouse
  JOURNAL   Differentiation 62 (2), 83-96 (1997)
   PUBMED   9404003
REFERENCE   9  (residues 1 to 886)
  AUTHORS   Chidgey,M.A., Yue,K.K., Gould,S., Byrne,C. and Garrod,D.R.
  TITLE     Changing pattern of desmocollin 3 expression accompanies epidermal
            organisation during skin development
  JOURNAL   Dev Dyn 210 (3), 315-327 (1997)
   PUBMED   9389456
REFERENCE   10 (residues 1 to 886)
  AUTHORS   King,I.A., O'Brien,T.J. and Buxton,R.S.
  TITLE     Expression of the 'skin-type' desmosomal cadherin DSC1 is closely
            linked to the keratinization of epithelial tissues during mouse
            development
  JOURNAL   J Invest Dermatol 107 (4), 531-538 (1996)
   PUBMED   8823356
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK079441.1, BC109162.1 and
            AC132314.3.
            
            On Apr 29, 2014 this sequence version replaced XP_006525654.1.
            
            Summary: This gene encodes a member of the cadherin family of
            proteins that mediates adhesion in desmosomes. The encoded
            preproprotein undergoes proteolytic processing to generate the
            mature, functional protein. Mice lacking the encoded protein
            exhibit epidermal fragility together with defects of epidermal
            barrier and differentiation. The neonatal mice lacking the encoded
            protein exhibit epidermal lesions and older mice develop chronic
            dermatitis. This gene is located in a cluster of desmosomal
            cadherin genes on chromosome 18. Alternate splicing of this gene
            results in multiple transcript variants encoding different isoforms
            that may undergo similar proteolytic processing. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1, also known as Dsc1a)
            represents the shorter transcript and encodes the longer 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 :: BC109162.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849375,
                                           SAMN00849376 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..886
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 11.17 cM"
     Protein         1..886
                     /product="desmocollin-1 isoform 1 preproprotein"
                     /calculated_mol_wt=95880
     sig_peptide     1..29
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=3077
     Region          29..109
                     /region_name="Cadherin_pro"
                     /note="Cadherin prodomain like; smart01055"
                     /db_xref="CDD:214999"
     Site            130
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P55849.2)"
     mat_peptide     135..886
                     /product="Desmocollin-1. /id=PRO_0000003866"
                     /note="propagated from UniProtKB/Swiss-Prot (P55849.2)"
                     /calculated_mol_wt=84024
     Region          139..233
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Site            order(145..146,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            165
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P55849.2)"
     Region          248..350
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,311,313,346,348..349)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          359..462
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Site            385
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q08554; propagated from
                     UniProtKB/Swiss-Prot (P55849.2)"
     Region          477..568
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Site            order(483,534,536,569,571..572)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            546
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (high mannose) asparagine.
                     /evidence=ECO:0000269|PubMed:16170054; propagated from
                     UniProtKB/Swiss-Prot (P55849.2)"
     Site            613
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P55849.2)"
     Site            692..714
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P55849.2)"
     Region          837..880
                     /region_name="CADH_Y-type_LIR"
                     /note="Cadherin, Y-type LIR-motif; pfam01049"
                     /db_xref="CDD:460041"
     CDS             1..886
                     /gene="Dsc1"
                     /gene_synonym="1110020A10Rik"
                     /coded_by="NM_001291804.1:218..2878"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS89198.1"
                     /db_xref="GeneID:13505"
                     /db_xref="MGI:MGI:109173"
ORIGIN      
        1 mavacaapgs tfskqllffl lvlvlfcdac qkvslhvpsh lkaetpvgkv nleeclksps
       61 lilssdpafr iledgtiytt hdlllssekr gfsillsdgq gqeqkklevv lsarekkvfr
      121 krhtkepvhn rskrrwapip cslmenslgp fpqhiqqiqs daaqnytify sisgpgvdke
      181 pynlfyiekd tgdiyctrsi dreqydqflv ygyattadgy apdyplpllf kveddndnap
      241 yfetkltvfs vpencrsgts vgqvtaidkd epgtlhtrlk ykilqqipdq pkhfsihpdt
      301 gvittttpll drekcdtykl vmevrdmggq pfglfttgti tisledendn spyftqtsyt
      361 teveenridv eilrmvvhdq dlpntphska vytilkgnen gnfkittdpn tnegvlcvvk
      421 plnyevsrqv tlqigvlnea qftnaanaqp ptmctttvtv kikdrdegpe cqppvkviqs
      481 kdglpagqel lgykavdpet ssgeglryem vgdednwfei nkitgdlrtv kvldreskfv
      541 knnqynisvv atdtagrsct gtlvvlledf ndhppqidke vticqqekdf avlepidldg
      601 pdngppfqfl ldnsssklwt lesqdgkrai lrqrhnlnyn yysvpiqiqd rhgfsakhvl
      661 svrvcdcttp tecrmavkee rdakpniilg kwailamvlg salllcilft cfcvtttkrt
      721 vkkcfpddva qqnlivsnte gpgeevtean irlptqtani cdtsmsvgtl ggqgiktqqs
      781 femvkgghtl eshkggvlga aepgryaytd wqtftqprlg ekvylcgqae ehkhcedyvr
      841 pynyegkgsm agsvgccsdr qeeeglefld qlepkfrtla ktcvkk
//
