LOCUS       NM_178351                718 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens late cornified envelope 1C (LCE1C), transcript variant
            1, mRNA.
ACCESSION   NM_178351
VERSION     NM_178351.4
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 718)
  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   2  (bases 1 to 718)
  AUTHORS   Sun,L., Cao,Y., He,N., Han,J., Hai,R., Arlud,S., He,B., Wu,W.,
            Li,L., Su,X., Cui,H., Zhao,W., Chao,B., Liu,D., Sun,Z. and Huang,Y.
  TITLE     Association between LCE gene polymorphisms and psoriasis vulgaris
            among Mongolians from Inner Mongolia
  JOURNAL   Arch Dermatol Res 310 (4), 321-327 (2018)
   PUBMED   29397434
  REMARK    GeneRIF: genetic polymorphism is associated with psoriasis vulgaris
            among Mongolians from Inner Mongolia
REFERENCE   3  (bases 1 to 718)
  AUTHORS   Yabuta,N., Ota,C., Sasakura,T., Naito,Y., Okuzaki,D., Fukushima,K.
            and Nojima,H.
  TITLE     Late cornified envelope 1C (LCE1C), a transcriptional target of
            TAp63 phosphorylated at T46/T281, interacts with PRMT5
  JOURNAL   Sci Rep 8 (1), 4892 (2018)
   PUBMED   29559659
  REMARK    GeneRIF: Luciferase reporter assays using the promoter region of
            the LCE1C gene confirmed that the phosphorylations of
            TAp63-T46/T281 contributed to full transcriptional activation of
            the LCE1C gene. LCE1C interacted with protein arginine
            methyltransferase 5 (PRMT5) and translocated it from the nucleus to
            the cytoplasm.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 718)
  AUTHORS   Bowes,J., Flynn,E., Ho,P., Aly,B., Morgan,A.W., Marzo-Ortega,H.,
            Coates,L., McManus,R., Ryan,A.W., Kane,D., Korendowych,E.,
            McHugh,N., FitzGerald,O., Packham,J., Bruce,I.N. and Barton,A.
  TITLE     Variants in linkage disequilibrium with the late cornified envelope
            gene cluster deletion are associated with susceptibility to
            psoriatic arthritis
  JOURNAL   Ann Rheum Dis 69 (12), 2199-2203 (2010)
   PUBMED   20643763
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 718)
  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   6  (bases 1 to 718)
  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
            AL353779.11.
            
            On Jun 2, 2019 this sequence version replaced NM_178351.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR9304712.195202.1,
                                           SRR1163658.326188.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000607093.2/ ENSP00000475270.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                AL353779.11        91004-91054         c
            52-718              AL353779.11        89235-89901         c
FEATURES             Location/Qualifiers
     source          1..718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..718
                     /gene="LCE1C"
                     /gene_synonym="LEP3"
                     /note="late cornified envelope 1C"
                     /db_xref="GeneID:353133"
                     /db_xref="HGNC:HGNC:29464"
                     /db_xref="MIM:612605"
     exon            1..51
                     /gene="LCE1C"
                     /gene_synonym="LEP3"
                     /inference="alignment:Splign:2.1.0"
     exon            52..718
                     /gene="LCE1C"
                     /gene_synonym="LEP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..428
                     /gene="LCE1C"
                     /gene_synonym="LEP3"
                     /note="isoform 1 is encoded by transcript variant 1; late
                     envelope protein 3; late cornified envelope protein 1C"
                     /codon_start=1
                     /product="late cornified envelope protein 1C isoform 1"
                     /protein_id="NP_848128.1"
                     /db_xref="CCDS:CCDS1026.1"
                     /db_xref="GeneID:353133"
                     /db_xref="HGNC:HGNC:29464"
                     /db_xref="MIM:612605"
                     /translation="MSCQQSQQQCQPPPKCTPKCPPKCPTPKCPPKCPPKCPPVSSCC
                     SVSSGGCCGSSSGGSCGSSSGGCCSSGGGGCCLSHHRRRRSHCHRPQSSGCCSQPSGG
                     SSCCGGGSGQHSGGCC"
     regulatory      697..702
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCE1C"
                     /gene_synonym="LEP3"
                     /note="hexamer: ATTAAA"
     polyA_site      718
                     /gene="LCE1C"
                     /gene_synonym="LEP3"
                     /note="major polyA site"
ORIGIN      
        1 atccactcac ctcccgaggt gctgaaggac cctgtgctgc ctgtgacccc gctcctgaat
       61 ccgccaccaa gatgtcctgc cagcagagcc agcagcagtg ccagccccct cccaagtgca
      121 cccccaagtg ccctcccaag tgccccaccc caaagtgtcc cccaaagtgt ccccctaagt
      181 gccctcctgt ctcttcctgc tgcagtgtca gctccggagg ctgctgtggc tccagctctg
      241 ggggcagctg tggctccagc tctgggggat gctgcagttc tgggggaggt ggctgctgcc
      301 tgagccacca caggcgccgt aggtcccact gccacagacc ccagagctct ggctgctgca
      361 gccagccctc ggggggctcc agctgctgtg gcggggggag tggccagcac tctggaggct
      421 gctgctgaag tggaccctga gcctagaaga gcagaatcca ggaccgcaaa ctgccaagga
      481 catccccctt ctcctactag gcctgcctga gaggctcaca ggtccaaggg aaagctctga
      541 acttgccaag agcatatctt ttccctggag tccagaaact cagatcctct cctggatctc
      601 cattcactgg ccttggacct cacctttgtg gctaccctcc cacgctctgt ctaagcccct
      661 agcttactca atgtcatttg cagcgtgcat ctgctgatta aaggactaaa acaaggaa
//
