LOCUS       NM_001264               2555 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens corneodesmosin (CDSN), mRNA.
ACCESSION   NM_001264
VERSION     NM_001264.5
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 2555)
  AUTHORS   Sato,E., Imayoshi,H., Tsutsui,Y., Shimizu,H. and Imafuku,S.
  TITLE     Mature IL-36gamma Induces Stratum Corneum Exfoliation in
            Generalized Pustular Psoriasis by Suppressing Corneodesmosin
  JOURNAL   J Invest Dermatol 144 (4), 764-773 (2024)
   PUBMED   37827276
  REMARK    GeneRIF: Mature IL-36gamma Induces Stratum Corneum Exfoliation in
            Generalized Pustular Psoriasis by Suppressing Corneodesmosin.
            Erratum:[J Invest Dermatol. 2025 Feb;145(2):456. doi:
            10.1016/j.jid.2024.04.002.. PMID: 39078356]
REFERENCE   2  (bases 1 to 2555)
  AUTHORS   Kim,J.J., Hong,Y.M., Yun,S.W., Lee,K.Y., Yoon,K.L., Han,M.K.,
            Kim,G.B., Kil,H.R., Song,M.S., Lee,H.D., Ha,K.S., Jun,H.O.,
            Yu,J.J., Jang,G.Y. and Lee,J.K.
  CONSRTM   Korean Kawasaki Disease Genetics Consortium
  TITLE     Identification of B-cell-related HSPG2 and CDSN as susceptibility
            loci for Kawasaki disease
  JOURNAL   Hum Immunol 84 (10), 567-570 (2023)
   PUBMED   37453912
  REMARK    GeneRIF: Identification of B-cell-related HSPG2 and CDSN as
            susceptibility loci for Kawasaki disease.
REFERENCE   3  (bases 1 to 2555)
  AUTHORS   Peled,A., Samuelov,L., Sarig,O., Bochner,R., Malki,L.,
            Pavlovsky,M., Pichinuk,E., Weil,M. and Sprecher,E.
  TITLE     Treatment of hereditary hypotrichosis simplex of the scalp with
            topical gentamicin
  JOURNAL   Br J Dermatol 183 (1), 114-120 (2020)
   PUBMED   31746457
  REMARK    GeneRIF: Treatment of hereditary hypotrichosis simplex of the scalp
            with topical gentamicin.
REFERENCE   4  (bases 1 to 2555)
  AUTHORS   Levy-Nissenbaum,E., Betz,R.C., Frydman,M., Simon,M., Lahat,H.,
            Bakhan,T., Goldman,B., Bygum,A., Pierick,M., Hillmer,A.M.,
            Jonca,N., Toribio,J., Kruse,R., Dewald,G., Cichon,S., Kubisch,C.,
            Guerrin,M., Serre,G., Nothen,M.M. and Pras,E.
  TITLE     Hypotrichosis simplex of the scalp is associated with nonsense
            mutations in CDSN encoding corneodesmosin
  JOURNAL   Nat Genet 34 (2), 151-153 (2003)
   PUBMED   12754508
  REMARK    GeneRIF: identified nonsense mutations in the gene CDSN (encoding
            corneodesmosin) in three families suffering from hypotrichosis
            simplex of the scalp
REFERENCE   5  (bases 1 to 2555)
  AUTHORS   Guerrin,M., Simon,M., Montezin,M., Haftek,M., Vincent,C. and
            Serre,G.
  TITLE     Expression cloning of human corneodesmosin proves its identity with
            the product of the S gene and allows improved characterization of
            its processing during keratinocyte differentiation
  JOURNAL   J Biol Chem 273 (35), 22640-22647 (1998)
   PUBMED   9712893
REFERENCE   6  (bases 1 to 2555)
  AUTHORS   Simon,M., Montezin,M., Guerrin,M., Durieux,J.J. and Serre,G.
  TITLE     Characterization and purification of human corneodesmosin, an
            epidermal basic glycoprotein associated with corneocyte-specific
            modified desmosomes
  JOURNAL   J Biol Chem 272 (50), 31770-31776 (1997)
   PUBMED   9395522
REFERENCE   7  (bases 1 to 2555)
  AUTHORS   Haftek,M., Simon,M., Kanitakis,J., Marechal,S., Claudy,A., Serre,G.
            and Schmitt,D.
  TITLE     Expression of corneodesmosin in the granular layer and stratum
            corneum of normal and diseased epidermis
  JOURNAL   Br J Dermatol 137 (6), 864-873 (1997)
   PUBMED   9470901
REFERENCE   8  (bases 1 to 2555)
  AUTHORS   Lundstrom,A., Serre,G., Haftek,M. and Egelrud,T.
  TITLE     Evidence for a role of corneodesmosin, a protein which may serve to
            modify desmosomes during cornification, in stratum corneum cell
            cohesion and desquamation
  JOURNAL   Arch Dermatol Res 286 (7), 369-375 (1994)
   PUBMED   7818278
REFERENCE   9  (bases 1 to 2555)
  AUTHORS   Zhou,Y. and Chaplin,D.D.
  TITLE     Identification in the HLA class I region of a gene expressed late
            in keratinocyte differentiation
  JOURNAL   Proc Natl Acad Sci U S A 90 (20), 9470-9474 (1993)
   PUBMED   8415725
REFERENCE   10 (bases 1 to 2555)
  AUTHORS   Toribio,J. and Quinones,P.A.
  TITLE     Hereditary hypotrichosis simplex of the scalp. Evidence for
            autosomal dominant inheritance
  JOURNAL   Br J Dermatol 91 (6), 687-696 (1974)
   PUBMED   4141628
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662844.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001264.4.
            
            Summary: This gene encodes a protein found in corneodesmosomes,
            which localize to human epidermis and other cornified squamous
            epithelia. The encoded protein undergoes a series of cleavages
            during corneocyte maturation. This gene is highly polymorphic in
            human populations, and variation has been associated with skin
            diseases such as psoriasis, hypotrichosis and peeling skin
            syndrome. The gene is located in the major histocompatibility
            complex (MHC) class I region on chromosome 6. [provided by RefSeq,
            Dec 2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: L20815.1, AK292636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376288.3/ ENSP00000365465.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-112               AL662844.12        59823-59934         c
            113-2555            AL662844.12        54575-57017         c
FEATURES             Location/Qualifiers
     source          1..2555
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2555
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
                     /note="corneodesmosin"
                     /db_xref="GeneID:1041"
                     /db_xref="HGNC:HGNC:1802"
                     /db_xref="MIM:602593"
     exon            1..112
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..1617
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
                     /note="differentiated keratinocyte S protein"
                     /codon_start=1
                     /product="corneodesmosin precursor"
                     /protein_id="NP_001255.4"
                     /db_xref="CCDS:CCDS34389.1"
                     /db_xref="GeneID:1041"
                     /db_xref="HGNC:HGNC:1802"
                     /db_xref="MIM:602593"
                     /translation="MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKD
                     PTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGS
                     AGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSS
                     FQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTFGVSSSGQSVSSNQRPC
                     SSDIPDSPCSGGPIVSHSGPYIPSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNG
                     GLPGKPCPPITSVDKSYGGYEVVGGSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSP
                     GVPSFAAGPPISEGKYFSSNPIIPSQSAASSAIAFQPVGTGGVQLCGGGSTGSKGPCS
                     PSSSRVPSSSSISSSSGLPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGS
                     KSSSSGHPCMSVSSLTLTGGPDGSPHPDPSAGAKPCGSSSAGKIPCRSIRDILAQVKP
                     LGPQLADPEVFLPQGELLNSP"
     exon            113..2555
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2037..2042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
                     /note="hexamer: AATAAA"
     polyA_site      2067
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
                     /note="major polyA site"
     regulatory      2530..2535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
                     /note="hexamer: AATAAA"
     polyA_site      2555
                     /gene="CDSN"
                     /gene_synonym="HTSS; HTSS1; HYPT2; PSS; PSS1"
ORIGIN      
        1 atcagtcagg aggccgtgca gtccgagatg ggctcgtctc gggcaccctg gatggggcgt
       61 gtgggtgggc acgggatgat ggcactgctg ctggctggtc tcctcctgcc agggaccttg
      121 gctaagagca ttggcacctt ctcagaccct tgtaaggacc ccacgcgtat cacctcccct
      181 aacgacccct gcctcactgg gaagggtgac tccagcggtt tcagtagcta cagtggctcc
      241 agcagttctg gcagctccat ttccagtgcc agaagctctg gtggtggctc cagtggtagc
      301 tccagcggat ccagcattgc ccagggtggt tctgcaggat cttttaagcc aggaacgggg
      361 tattcccagg tcagctactc ctccggatct ggctctagtc tacaaggtgc atccggttcc
      421 tcccagctgg ggagcagcag ctctcactcg ggaaacagcg gctctcactc gggaagcagc
      481 agctctcatt cgagcagcag cagcagcttt cagttcagca gcagcagctt ccaagtaggg
      541 aatggctctg ctctgccaac caatgacaac tcttaccgcg gaatactaaa cccttcccag
      601 cctggacaaa gctcttcctc ttcccagacc tttggggtat ccagcagtgg ccaaagcgtc
      661 agctccaacc agcgtccctg tagttcggac atccccgact ctccctgcag tggagggccc
      721 atcgtctcgc actccggccc ctacatcccc agctcccact ctgtgtcagg gggtcagagg
      781 cctgtggtgg tggtggtgga ccagcacggt tctggtgccc ctggagtggt tcaaggtccc
      841 ccctgtagca atggtggcct tccaggcaag ccctgtcccc caatcacctc tgtagacaaa
      901 tcctatggtg gctacgaggt ggtgggtggc tcctctgaca gttatctggt tccaggcatg
      961 acctacagta agggtaaaat ctaccctgtg ggctacttca ccaaagagaa ccctgtgaaa
     1021 ggctctccag gggtcccttc ctttgcagct gggcccccca tctctgaggg caaatacttc
     1081 tccagcaacc ccatcatccc cagccagtcg gcagcttcct cggccattgc attccagcca
     1141 gtggggactg gtggggtcca gctctgtgga ggcggctcca cgggctccaa gggaccctgc
     1201 tctccctcca gttctcgagt ccccagcagt tctagcattt ccagcagctc cggtttaccc
     1261 taccatccct gcggcagtgc ttcccagagc ccctgctccc caccaggcac cggctccttc
     1321 agcagcagct ccagttccca atccagtggc aaaatcatcc ttcagccttg tggcagcaag
     1381 tccagctctt ctggtcaccc ttgcatgtct gtctcctcct tgacactgac tgggggcccc
     1441 gatggctctc cccatcctga tccctccgct ggtgccaagc cctgtggctc cagcagtgct
     1501 ggaaagatcc cctgccgctc catccgggat atcctagccc aagtgaagcc tctggggccc
     1561 cagctagctg accctgaagt tttcctaccc caaggagagt tactcaacag tccataagaa
     1621 gtcaactgtt gtgtgtgtgc atgccttggg cacaaacaag cacatacact atatcccata
     1681 tgggagaagt ccagtgccca ggcatagggt tagctcagtt tccctccttc ccaaaagagt
     1741 ggttctgctt tctccactac cccaaggttg cagactctct cttatcaccc cttcctcctt
     1801 cctcttctca aaatggtaga ttcaaagctc ctctcttgat tctctcctac tgtttaaatt
     1861 cccattccac cacagtgccc ctcagccaga tcaccacccc ttacaattcc ctctactgtg
     1921 tggaaatggt ccattgagta acacccccat cagcttctca actgggaaac ccctgaaatg
     1981 ctctcagagc acctctgacg cctgaagaag ttataccttc ctcttcccct ttaccaaata
     2041 aagcaaagtc aaaccatcat ctggaaacag tggccacttt tcactgacct ttcttcgaca
     2101 tctagtcaac ccacccaata tgccactggg ctctcgctcc caattccacc ccaccctcca
     2161 ttacagagct caccacgccc tcctagatca ccgtccccaa cacacccatt gcctctcaag
     2221 gcccttatct cagccccttc ctgtggccac ttccctcagt gctcagatga ttccctgggt
     2281 gagggagaca ctggggcacc ctcagaggtt gaagcaggct ccctgctgtc cctggatcct
     2341 ggacagatgg ctcagtaaac tgtggggact aggtgcagac tttttgcctt cttggagtcc
     2401 tgggtctcct ctgagagtct gggtggtgct cttcctacgc ctctagaggt ctctgtgttc
     2461 ctcattttcc ttcaaaagcg ggctgtgttt ctcttctacc ttccagctgc tcccacagag
     2521 gaggaagaca ataaatattt gttgaactga aagca
//
