LOCUS       NM_178434                431 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens late cornified envelope 3C (LCE3C), mRNA.
ACCESSION   NM_178434
VERSION     NM_178434.3
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 431)
  AUTHORS   Niehues,H., Rikken,G., Kersten,F.F.J., Eeftens,J.M., van
            Vlijmen-Willems,I.M.J.J., Rodijk-Olthuis,D., Jansen,P.A.M.,
            Hendriks,W.J.A.J., Ederveen,T.H.A., Schalkwijk,J., van den
            Bogaard,E.H. and Zeeuwen,P.L.J.M.
  TITLE     CYSRT1: An Antimicrobial Epidermal Protein that Can Interact with
            Late Cornified Envelope Proteins
  JOURNAL   J Invest Dermatol 143 (8), 1498-1508 (2023)
   PUBMED   36804407
REFERENCE   2  (bases 1 to 431)
  AUTHORS   Niehues,H., van der Krieken,D.A., Ederveen,T.H.A., Jansen,P.A.M.,
            van Niftrik,L., Mesman,R., Netea,M.G., Smits,J.P.H., Schalkwijk,J.,
            van den Bogaard,E.H. and Zeeuwen,P.L.J.M.
  TITLE     Antimicrobial Late Cornified Envelope Proteins: The Psoriasis Risk
            Factor Deletion of LCE3B/C Genes Affects Microbiota Composition
  JOURNAL   J Invest Dermatol 142 (7), 1947-1955 (2022)
   PUBMED   34942199
  REMARK    GeneRIF: Antimicrobial Late Cornified Envelope Proteins: The
            Psoriasis Risk Factor Deletion of LCE3B/C Genes Affects Microbiota
            Composition.
REFERENCE   3  (bases 1 to 431)
  AUTHORS   Zhu,C., Fei,W., Wang,W., Tang,L., Gao,J. and Zhou,F.
  TITLE     Copy Number Variation Analysis of IL22 and LCE3C in Different
            Subtypes of Psoriasis in a Chinese Han Population
  JOURNAL   Med Sci Monit 27, e934927 (2021)
   PUBMED   34853291
  REMARK    GeneRIF: Copy Number Variation Analysis of IL22 and LCE3C in
            Different Subtypes of Psoriasis in a Chinese Han Population.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 431)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 431)
  AUTHORS   Zhou,F., Shen,C., Hsu,Y.H., Gao,J., Dou,J., Ko,R., Zheng,X.,
            Sun,L., Cui,Y. and Zhang,X.
  TITLE     DNA methylation-based subclassification of psoriasis in the Chinese
            Han population
  JOURNAL   Front Med 12 (6), 717-725 (2018)
   PUBMED   29623515
  REMARK    GeneRIF: Investigation of the clinical characteristics and copy
            number variations (CNVs) of DEFB4, IL22, and LCE3C in the three
            subclassifications revealed no significant differences in gender
            ratio and in Ps area and severity index (PASI) score.  The CNVs of
            DEFB4 and LCE3C showed no significant differences but the CNV of
            IL22 significantly differed among the three subclassifications.
REFERENCE   6  (bases 1 to 431)
  AUTHORS   Docampo,E., Rabionet,R., Riveira-Munoz,E., Escaramis,G., Julia,A.,
            Marsal,S., Martin,J.E., Gonzalez-Gay,M.A., Balsa,A., Raya,E.,
            Martin,J. and Estivill,X.
  TITLE     Deletion of the late cornified envelope genes, LCE3C and LCE3B, is
            associated with rheumatoid arthritis
  JOURNAL   Arthritis Rheum 62 (5), 1246-1251 (2010)
   PUBMED   20213803
  REMARK    GeneRIF: we have verified a pleiotropic effect of a common genetic
            risk factor (LCE3C_LCE3B-del) for autoimmune diseases that is
            involved in both psoriasis and rheumatoid arthritis
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 431)
  AUTHORS   Huffmeier,U., Bergboer,J.G., Becker,T., Armour,J.A., Traupe,H.,
            Estivill,X., Riveira-Munoz,E., Mossner,R., Reich,K., Kurrat,W.,
            Wienker,T.F., Schalkwijk,J., Zeeuwen,P.L. and Reis,A.
  TITLE     Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and
            analysis of interaction with other genetic risk factors
  JOURNAL   J Invest Dermatol 130 (4), 979-984 (2010)
   PUBMED   20016497
  REMARK    GeneRIF: study confirms the recently published finding that the
            deletion of the two LCE genes is a susceptibility factor for
            psoriasis vulgaris with dosage effect
            GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   8  (bases 1 to 431)
  AUTHORS   de Cid,R., Riveira-Munoz,E., Zeeuwen,P.L., Robarge,J., Liao,W.,
            Dannhauser,E.N., Giardina,E., Stuart,P.E., Nair,R., Helms,C.,
            Escaramis,G., Ballana,E., Martin-Ezquerra,G., den Heijer,M.,
            Kamsteeg,M., Joosten,I., Eichler,E.E., Lazaro,C., Pujol,R.M.,
            Armengol,L., Abecasis,G., Elder,J.T., Novelli,G., Armour,J.A.,
            Kwok,P.Y., Bowcock,A., Schalkwijk,J. and Estivill,X.
  TITLE     Deletion of the late cornified envelope LCE3B and LCE3C genes as a
            susceptibility factor for psoriasis
  JOURNAL   Nat Genet 41 (2), 211-215 (2009)
   PUBMED   19169253
  REMARK    GeneRIF: LCE3C_LCE3B-del shows epistatic effects with the HLA-Cw6
            allele on the development of psoriasis.
            GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   9  (bases 1 to 431)
  AUTHORS   Jackson,B., Tilli,C.M., Hardman,M.J., Avilion,A.A., MacLeod,M.C.,
            Ashcroft,G.S. and Byrne,C.
  TITLE     Late cornified envelope family in differentiating
            epithelia--response to calcium and ultraviolet irradiation
  JOURNAL   J Invest Dermatol 124 (5), 1062-1070 (2005)
   PUBMED   15854049
  REMARK    GeneRIF: paper describing nomenclature changes and expression in
            range of tissues and in response to UV
REFERENCE   10 (bases 1 to 431)
  AUTHORS   Marshall,D., Hardman,M.J., Nield,K.M. and Byrne,C.
  TITLE     Differentially expressed late constituents of the epidermal
            cornified envelope
  JOURNAL   Proc Natl Acad Sci U S A 98 (23), 13031-13036 (2001)
   PUBMED   11698679
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356426.11.
            
            On Aug 6, 2019 this sequence version replaced NM_178434.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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.
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000684028.1/ ENSP00000507204.1
            RefSeq Select criteria    :: based on single protein-coding
                                         transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                AL356426.11        50076-50126
            52-431              AL356426.11        50549-50928
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..431
                     /gene="LCE3C"
                     /gene_synonym="LEP15; SPRL3A"
                     /note="late cornified envelope 3C"
                     /db_xref="GeneID:353144"
                     /db_xref="HGNC:HGNC:16612"
                     /db_xref="MIM:612615"
     exon            1..51
                     /gene="LCE3C"
                     /gene_synonym="LEP15; SPRL3A"
                     /inference="alignment:Splign:2.1.0"
     exon            52..431
                     /gene="LCE3C"
                     /gene_synonym="LEP15; SPRL3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..361
                     /gene="LCE3C"
                     /gene_synonym="LEP15; SPRL3A"
                     /note="small proline rich-like (epidermal differentiation
                     complex) 3A; late envelope protein 15; small
                     proline-rich-like epidermal differentiation complex
                     protein 3A"
                     /codon_start=1
                     /product="late cornified envelope protein 3C"
                     /protein_id="NP_848521.1"
                     /db_xref="CCDS:CCDS1015.1"
                     /db_xref="GeneID:353144"
                     /db_xref="HGNC:HGNC:16612"
                     /db_xref="MIM:612615"
                     /translation="MSCQQNQQQCQPPPSCPSPKCPPKSPAQCLPPPSSDCALSSGGC
                     GPSSESGCCLSHHRHFRSHQCRRQRSNSCDRGSGQQGGGSCRGHGSGGCC"
ORIGIN      
        1 atccacagca tccttaggag cagccttctt ctcctacctc ctctgcatct ggtaaaattc
       61 ctgcattcct gcaaagatgt cctgccagca aaaccagcag cagtgccagc cccctcccag
      121 ttgtccctca cccaagtgtc ccccaaagag cccagcacag tgtctgcctc caccctcttc
      181 tgactgtgct ctaagctccg ggggctgtgg ccccagttct gaaagtggct gctgcctgag
      241 ccaccacagg cacttcaggt cccatcaatg ccggcgccag agatccaact cctgtgacag
      301 gggcagtggt cagcaaggcg ggggctcctg ccgtggccat ggctctgggg gctgctgctg
      361 acctggatcc tgatgatgag acaagtgatc tttggaggaa acaaggatcc caaaggccca
      421 ggaaaagctc c
//
