LOCUS       NM_005547               2152 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens involucrin (IVL), mRNA.
ACCESSION   NM_005547 XM_001130659
VERSION     NM_005547.4
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 2152)
  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   2  (bases 1 to 2152)
  AUTHORS   Yoon,H.K., Li,Z.J., Choi,D.K., Sohn,K.C., Lim,E.H., Lee,Y.H.,
            Kim,S., Im,M., Lee,Y., Seo,Y.J., Lee,J.H. and Kim,C.D.
  TITLE     Glucocorticoid receptor enhances involucrin expression of
            keratinocyte in a ligand-independent manner
  JOURNAL   Mol Cell Biochem 390 (1-2), 289-295 (2014)
   PUBMED   24515279
  REMARK    GeneRIF: Together, these results suggest that GR modulates
            involucrin expression of keratinocytes by regulating the
            intracellular signaling network in a ligand-independent manner.
REFERENCE   3  (bases 1 to 2152)
  AUTHORS   Dugu,L., Nakahara,T., Wu,Z., Uchi,H., Liu,M., Hirano,K.,
            Yokomizo,T. and Furue,M.
  TITLE     Neuronatin is related to keratinocyte differentiation by
            up-regulating involucrin
  JOURNAL   J Dermatol Sci 73 (3), 225-231 (2014)
   PUBMED   24252747
  REMARK    GeneRIF: over-expression of Nnat was evident along with involucrin
            and cytokeratin1 expression
REFERENCE   4  (bases 1 to 2152)
  AUTHORS   Chen,J.Q., Man,X.Y., Li,W., Zhou,J., Landeck,L., Cai,S.Q. and
            Zheng,M.
  TITLE     Regulation of involucrin in psoriatic epidermal keratinocytes: the
            roles of ERK1/2 and GSK-3beta
  JOURNAL   Cell Biochem Biophys 66 (3), 523-528 (2013)
   PUBMED   23283814
  REMARK    GeneRIF: involucrin is up-regulated in psoriatic keratinocytes
REFERENCE   5  (bases 1 to 2152)
  AUTHORS   Chew,Y.C., Adhikary,G., Xu,W., Wilson,G.M. and Eckert,R.L.
  TITLE     Protein kinase C delta increases Kruppel-like factor 4 protein,
            which drives involucrin gene transcription in differentiating
            keratinocytes
  JOURNAL   J Biol Chem 288 (24), 17759-17768 (2013)
   PUBMED   23599428
  REMARK    GeneRIF: KLF4 is part of a multiprotein complex that interacts that
            the hINV promoter distal regulatory region to drive
            differentiation-dependent hINV gene expression in epidermis.
REFERENCE   6  (bases 1 to 2152)
  AUTHORS   Yaffe,M.B., Beegen,H. and Eckert,R.L.
  TITLE     Biophysical characterization of involucrin reveals a molecule
            ideally suited to function as an intermolecular cross-bridge of the
            keratinocyte cornified envelope
  JOURNAL   J Biol Chem 267 (17), 12233-12238 (1992)
   PUBMED   1601889
REFERENCE   7  (bases 1 to 2152)
  AUTHORS   Simon,M. and Green,H.
  TITLE     The glutamine residues reactive in transglutaminase-catalyzed
            cross-linking of involucrin
  JOURNAL   J Biol Chem 263 (34), 18093-18098 (1988)
   PUBMED   2461365
REFERENCE   8  (bases 1 to 2152)
  AUTHORS   Eckert,R.L. and Green,H.
  TITLE     Structure and evolution of the human involucrin gene
  JOURNAL   Cell 46 (4), 583-589 (1986)
   PUBMED   2873896
REFERENCE   9  (bases 1 to 2152)
  AUTHORS   Heller,M., Flemington,E., Kieff,E. and Deininger,P.
  TITLE     Repeat arrays in cellular DNA related to the Epstein-Barr virus IR3
            repeat
  JOURNAL   Mol Cell Biol 5 (3), 457-465 (1985)
   PUBMED   2985954
REFERENCE   10 (bases 1 to 2152)
  AUTHORS   Rice,R.H. and Green,H.
  TITLE     Presence in human epidermal cells of a soluble protein precursor of
            the cross-linked envelope: activation of the cross-linking by
            calcium ions
  JOURNAL   Cell 18 (3), 681-694 (1979)
   PUBMED   42494
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC387410.1, BC046391.2,
            AL162596.30 and AK300492.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 8, 2020 this sequence version replaced NM_005547.3.
            
            Summary: Involucrin, a component of the keratinocyte crosslinked
            envelope, is found in the cytoplasm and crosslinked to membrane
            proteins by transglutaminase.  This gene is mapped to 1q21, among
            calpactin I light chain, trichohyalin, profillaggrin, loricrin, and
            calcyclin. [provided by RefSeq, Jul 2008].
            
            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 :: DC373785.1, ERR279834.7718.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368764.4/ ENSP00000357753.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-369               DC387410.1         2-370
            370-741             BC046391.2         326-697
            742-742             AL162596.30        100866-100866
            743-772             AK300492.1         742-771
            773-2152            BC046391.2         729-2108
FEATURES             Location/Qualifiers
     source          1..2152
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..2152
                     /gene="IVL"
                     /note="involucrin"
                     /db_xref="GeneID:3713"
                     /db_xref="HGNC:HGNC:6187"
                     /db_xref="MIM:147360"
     exon            1..44
                     /gene="IVL"
                     /inference="alignment:Splign:2.1.0"
     exon            45..2152
                     /gene="IVL"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..1821
                     /gene="IVL"
                     /codon_start=1
                     /product="involucrin"
                     /protein_id="NP_005538.2"
                     /db_xref="CCDS:CCDS1030.1"
                     /db_xref="GeneID:3713"
                     /db_xref="HGNC:HGNC:6187"
                     /db_xref="MIM:147360"
                     /translation="MSQQHTLPVTLSPALSQELLKTVPPPVNTHQEQMKQPTPLPPPC
                     QKVPVELPVEVPSKQEEKHMTAVKGLPEQECEQQQKEPQEQELQQQHWEQHEEYQKAE
                     NPEQQLKQEKTQRDQQLNKQLEEEKKLLDQQLDQELVKRDEQLGMKKEQLLELPEQQE
                     GHLKHLEQQEGQLKHPEQQEGQLELPEQQEGQLELPEQQEGQLELPEQQEGQLELPEQ
                     QEGQLELPEQQEGQLELPQQQEGQLELSEQQEGQLELSEQQEGQLKHLEHQEGQLEVP
                     EEQMGQLKYLEQQEGQLKHLDQQEKQPELPEQQMGQLKHLEQQEGQPKHLEQQEGQLE
                     QLEEQEGQLKHLEQQEGQLEHLEHQEGQLGLPEQQVLQLKQLEKQQGQPKHLEEEEGQ
                     LKHLVQQEGQLKHLVQQEGQLEQQERQVEHLEQQVGQLKHLEEQEGQLKHLEQQQGQL
                     EVPEQQVGQPKNLEQEEKQLELPEQQEGQVKHLEKQEAQLELPEQQVGQPKHLEQQEK
                     HLEHPEQQDGQLKHLEQQEGQLKDLEQQKGQLEQPVFAPAPGQVQDIQPALPTKGEVL
                     LPVEHQQQKQEVQWPPKHK"
     regulatory      2125..2130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IVL"
                     /note="hexamer: AATAAA"
     polyA_site      2152
                     /gene="IVL"
                     /note="major polyA site"
ORIGIN      
        1 cagcactcca ccaaagcctc tgcctcagcc ttactgtgag tctggttgac agtagcttct
       61 aagatgtccc agcaacacac actgccagtg accctctccc ctgccctcag tcaggagctc
      121 ctcaagactg ttcctcctcc agtcaatacc catcaggagc aaatgaaaca gccaactcca
      181 ctgcctcccc catgccagaa ggtgcctgtc gagctcccag tggaggtccc atcaaagcaa
      241 gaggaaaagc acatgactgc tgtaaaggga ctgcctgagc aagaatgtga gcaacagcag
      301 aaggagccac aggagcagga gctgcagcaa cagcactggg aacagcatga ggaatatcag
      361 aaagcagaaa acccagagca gcagcttaag caggagaaaa cacaaaggga tcagcagcta
      421 aacaaacagc tggaagaaga gaagaagctc ttagaccagc aactggatca agagctagtc
      481 aagagagatg agcaactggg aatgaagaaa gagcaactgt tggagctccc agagcagcag
      541 gaggggcacc tgaagcacct agagcagcag gagggacagc tgaagcaccc ggagcagcag
      601 gaggggcagc tggagctccc agagcagcag gaggggcagc tggagctccc agagcagcag
      661 gaggggcagc tggagctccc agagcagcag gaggggcagc tggagctccc agagcagcag
      721 gaggggcagc tggagctccc agagcagcag gaggggcagc tggagctccc acagcagcag
      781 gaggggcagc tggagctctc tgagcagcag gaggggcagc tggagctctc tgagcagcag
      841 gagggacagc tgaagcacct ggagcaccag gaggggcagc tggaggtccc agaggagcag
      901 atggggcagc tgaagtacct ggaacagcag gaggggcagc tgaagcacct ggatcagcag
      961 gagaagcagc cagagctccc agagcagcag atggggcagc tgaagcacct ggagcagcag
     1021 gaggggcagc ctaagcatct ggagcagcag gaggggcaac tggagcagct ggaggagcag
     1081 gaggggcagc tgaagcacct ggagcagcag gaggggcagc tggagcacct ggagcaccag
     1141 gaagggcagc tggggctccc agagcagcag gtgctgcagc tgaagcagct agagaagcag
     1201 caggggcagc caaagcacct ggaggaggag gaggggcagc tgaagcacct ggtgcagcag
     1261 gaggggcagc tgaagcatct ggtgcagcag gaggggcagc tggagcagca ggagaggcag
     1321 gtggagcacc tggagcagca ggtggggcag ctgaagcacc tagaggagca ggagggacaa
     1381 ctgaagcatc tggagcagca gcaggggcag ttggaggtcc cagagcagca ggtggggcag
     1441 ccaaagaacc tggagcagga ggagaagcaa ctggagctcc cagagcagca agagggccag
     1501 gtgaagcacc tggagaagca ggaggcacag ctggagctcc cagagcagca ggtaggacag
     1561 ccaaagcacc tggaacagca ggaaaagcac ctagagcacc cagagcagca ggacggacaa
     1621 ctaaaacatc tggagcagca ggaggggcag ctgaaggacc tggagcagca gaaggggcag
     1681 ctggagcagc ctgtgtttgc cccagctcca ggccaggtcc aagacattca accagccctg
     1741 cccacaaagg gagaagtatt gcttcctgta gagcaccagc agcagaagca ggaggtgcag
     1801 tggccaccca aacataaata accacccgca gtgtccagag gccctcagat cgtctcatac
     1861 aagggaagag agagccactg gctccactta tttcgggtcc gctaggtggc ccgtctcatc
     1921 tgtgaacttg actctgtccc tctacatgtc tctttaatgg ggtgagggtg ggggagagag
     1981 ggaattattg tccagtgcca accccaatga ccccaatccc aacctcaggt gagcagagcc
     2041 tctacttgag ggactattgt tactatagga atccttactt ccccagtatt gaagctgaat
     2101 cagtgagtgt gtacaatgat acataataaa tcctggaagt cttgggatcc ta
//
