LOCUS       NM_000427               1245 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens loricrin cornified envelope precursor protein
            (LORICRIN), mRNA.
ACCESSION   NM_000427
VERSION     NM_000427.3
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 1245)
  AUTHORS   Wertheim-Tysarowska,K., Osipowicz,K., Gielniewski,B., Wojtas,B.,
            Szabelska-Beresewicz,A., Zyprych-Walczak,J., Mika,A.,
            Tysarowski,A., Duk,K., Rygiel,A.M., Niepokoj,K., Wozniak,K.,
            Kowalewski,C., Wierzba,J. and Jezela-Stanek,A.
  TITLE     The Epidermal Transcriptome Analysis of a Novel c.639_642dup
            LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology
  JOURNAL   Int J Mol Sci 24 (11), 9459 (2023)
   PUBMED   37298411
  REMARK    GeneRIF: The Epidermal Transcriptome Analysis of a Novel
            c.639_642dup LORICRIN Variant-Delineation of the Loricrin
            Keratoderma Pathology.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1245)
  AUTHORS   Gao,X., Li,H., Zhao,S., Li,X., Zhao,J., Long,Y., Zhang,J., Liao,Y.,
            Li,S., Guo,K., Yi,J., Chen,S. and Ma,M.
  TITLE     The c.323 G>C mutation in LORICRIN causes new-found late-onset
            autosomal dominant loricrin keratoderma in a Chinese Han Pedigree
  JOURNAL   J Dermatol Sci 106 (1), 37-44 (2022)
   PUBMED   35346558
  REMARK    GeneRIF: The c.323 G>C mutation in LORICRIN causes new-found
            late-onset autosomal dominant loricrin keratoderma in a Chinese Han
            Pedigree.
REFERENCE   3  (bases 1 to 1245)
  AUTHORS   Furue,M.
  TITLE     Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13,
            IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic
            Dermatitis
  JOURNAL   Int J Mol Sci 21 (15), 5382 (2020)
   PUBMED   32751111
  REMARK    GeneRIF: Regulation of Filaggrin, Loricrin, and Involucrin by IL-4,
            IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in
            Atopic Dermatitis.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1245)
  AUTHORS   Ellis,R., Tang,D., Nasr,B., Greenwood,A., McConnell,A.,
            Anagnostou,M.E., Elias,M., Verykiou,S., Bajwa,D., Ewen,T.,
            Reynolds,N.J., Barrett,P., Carling,E., Watson,G., Armstrong,J.,
            Allen,A.J., Horswell,S., Labus,M. and Lovat,P.E.
  TITLE     Epidermal autophagy and beclin 1 regulator 1 and loricrin: a
            paradigm shift in the prognostication and stratification of the
            American Joint Committee on Cancer stage I melanomas
  JOURNAL   Br J Dermatol 182 (1), 156-165 (2020)
   PUBMED   31056744
  REMARK    GeneRIF: Epidermal autophagy and beclin 1 regulator 1 and loricrin:
            a paradigm shift in the prognostication and stratification of the
            American Joint Committee on Cancer stage I melanomas.
REFERENCE   5  (bases 1 to 1245)
  AUTHORS   Kim,M.J., Im,M.A., Lee,J.S., Mun,J.Y., Kim,D.H., Gu,A. and Kim,I.S.
  TITLE     Effect of S100A8 and S100A9 on expressions of cytokine and skin
            barrier protein in human keratinocytes
  JOURNAL   Mol Med Rep 20 (3), 2476-2483 (2019)
   PUBMED   31322196
  REMARK    GeneRIF: S100A8 and S100A9 decreased the expression of skin barrier
            proteins, filaggrin and loricrin.
REFERENCE   6  (bases 1 to 1245)
  AUTHORS   Candi,E., Melino,G., Mei,G., Tarcsa,E., Chung,S.I., Marekov,L.N.
            and Steinert,P.M.
  TITLE     Biochemical, structural, and transglutaminase substrate properties
            of human loricrin, the major epidermal cornified cell envelope
            protein
  JOURNAL   J Biol Chem 270 (44), 26382-26390 (1995)
   PUBMED   7592852
REFERENCE   7  (bases 1 to 1245)
  AUTHORS   Steinert,P.M. and Marekov,L.N.
  TITLE     The proteins elafin, filaggrin, keratin intermediate filaments,
            loricrin, and small proline-rich proteins 1 and 2 are isodipeptide
            cross-linked components of the human epidermal cornified cell
            envelope
  JOURNAL   J Biol Chem 270 (30), 17702-17711 (1995)
   PUBMED   7543090
REFERENCE   8  (bases 1 to 1245)
  AUTHORS   Yoneda,K. and Steinert,P.M.
  TITLE     Overexpression of human loricrin in transgenic mice produces a
            normal phenotype
  JOURNAL   Proc Natl Acad Sci U S A 90 (22), 10754-10758 (1993)
   PUBMED   8248167
REFERENCE   9  (bases 1 to 1245)
  AUTHORS   Yoneda,K., Hohl,D., McBride,O.W., Wang,M., Cehrs,K.U., Idler,W.W.
            and Steinert,P.M.
  TITLE     The human loricrin gene
  JOURNAL   J Biol Chem 267 (25), 18060-18066 (1992)
   PUBMED   1355480
REFERENCE   10 (bases 1 to 1245)
  AUTHORS   Hohl,D., Mehrel,T., Lichti,U., Turner,M.L., Roop,D.R. and
            Steinert,P.M.
  TITLE     Characterization of human loricrin. Structure and function of a new
            class of epidermal cell envelope proteins
  JOURNAL   J Biol Chem 266 (10), 6626-6636 (1991)
   PUBMED   2007607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161636.21 and BC108290.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000427.2.
            
            Summary: This gene encodes loricrin, a major protein component of
            the cornified cell envelope found in terminally differentiated
            epidermal cells. Mutations in this gene are associated with
            Vohwinkel's syndrome and progressive symmetric erythrokeratoderma,
            both inherited skin diseases. [provided by RefSeq, Jul 2008].
            
            Sequence Note: Two alleles are present in unaffected individuals.
            The RefSeq record represents the allele present in the reference
            genome.
            
            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 :: BC108290.1, ERR279841.8111.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368742.4/ ENSP00000357731.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AL161636.21        91039-91054
            17-154              BC108290.1         1-138
            155-1245            AL161636.21        92386-93476
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1245
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="loricrin cornified envelope precursor protein"
                     /db_xref="GeneID:4014"
                     /db_xref="HGNC:HGNC:6663"
                     /db_xref="MIM:152445"
     exon            1..47
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /inference="alignment:Splign:2.1.0"
     exon            48..1245
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1009
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /codon_start=1
                     /product="loricrin"
                     /protein_id="NP_000418.2"
                     /db_xref="CCDS:CCDS30870.1"
                     /db_xref="GeneID:4014"
                     /db_xref="HGNC:HGNC:6663"
                     /db_xref="MIM:152445"
                     /translation="MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGG
                     GSSGSGCGYSGGGGYSGGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSG
                     CFSSGGGGSGCFSSGGGGSSGGGSGCFSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQS
                     YGGVSSGGSSGGGSGCFSSGGGGGSVCGYSGGGSGCGGGSSGGSGSGYVSSQQVTQTS
                     CAPQPSYGGGSSGGGGSGGSGCFSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGS
                     SGGGGGGSSVGGSGSGKGVPICHQTQQKQAPTWPSK"
     regulatory      1222..1227
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="hexamer: AATAAA"
     polyA_site      1245
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="major polyA site"
ORIGIN      
        1 acattgccag catcttctct cctcactcac ccttcctggt gctttgggct ctccttcctt
       61 ctcagacaag atgtcttatc agaaaaagca gcccacccct cagcccccag tggactgcgt
      121 gaagacctct ggcggcggtg gcggtggcgg cggcagcggc ggtggtggct gcggcttctt
      181 cggcggcggc ggctcagggg gcggtagcag cggttctggc tgcggctact ccggcggcgg
      241 tggctactct ggcggcggct gcggcggggg ctcctccggc ggcgggggcg ggggcggcat
      301 tggaggctgc ggagggggct ccggtgggag cgtcaagtac tccggaggcg gcggctcctc
      361 cggcgggggc tctggctgtt tctccagcgg tgggggcggc tccggctgct tctcctccgg
      421 tggcggcggc tcctccgggg gcggctccgg ctgcttctcc agcggtgggg gcggctcctc
      481 cgggggcggc tccggctgct tctcctccgg cggcggcggc ttctcgggcc aggcggtcca
      541 gtgccagagc tacggaggcg tctctagcgg cggctcctcc gggggcggct ccggctgctt
      601 ctccagcggc gggggcggcg gctctgtctg cggctactct ggcggcggct ctggctgcgg
      661 cggaggctcc tctggcggca gcggctccgg ctacgtctcc tcgcagcagg tcactcagac
      721 ctcgtgcgcg ccccagccga gttacggagg ggggtcgtcc ggcggcggcg gcagcggcgg
      781 aagcggctgc ttctccagcg gcgggggcgg cgggagctcc ggctgcggcg gcggctcctc
      841 cgggattggc agcggctgca tcatcagtgg cgggggctcc gtctgcggag gtggttcctc
      901 tggaggcggc ggcggcggct cctccgtggg tggctccggg agtggcaagg gcgtcccgat
      961 ctgccaccag acccagcaga agcaggcgcc tacctggccg tccaaataga tcccccaggg
     1021 taccacggag gcgaaggagt tggaggtgtt ttccaggggc accgatgggc ttagagctct
     1081 catgatgcta cccgaggttt gcaaatcctt catgtcttaa cctacctgga agaagccatt
     1141 gagctctccg gctgcatcta gttctgctgt ttagcctctt tggtttctgt acaactacct
     1201 cccaacccca gtgcctcagt caataaattt gcaaattcat gagaa
//
