LOCUS       NM_001410743            6021 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens occludin (OCLN), transcript variant 4, mRNA.
ACCESSION   NM_001410743 XM_017008914
VERSION     NM_001410743.1
KEYWORDS    RefSeq.
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 6021)
  AUTHORS   Yuan,S., Ma,Q., Hou,C., Zhao,Y., Liu,K.J., Ji,X. and Qi,Z.
  TITLE     Association of serum occludin levels and perihematomal edema
            volumes in intracranial hemorrhage patients
  JOURNAL   CNS Neurosci Ther 30 (3), e14450 (2024)
   PUBMED   37721332
  REMARK    GeneRIF: Association of serum occludin levels and perihematomal
            edema volumes in intracranial hemorrhage patients.
REFERENCE   2  (bases 1 to 6021)
  AUTHORS   Dos Santos,M.V., Holth,A., Bischof,K. and Davidson,B.
  TITLE     Occludin is overexpressed in tubo-ovarian high-grade serous
            carcinoma compared to mesothelioma and is a marker of tumor
            progression and chemoresistance
  JOURNAL   Clin Exp Metastasis 41 (1), 69-76 (2024)
   PUBMED   38141113
  REMARK    GeneRIF: Occludin is overexpressed in tubo-ovarian high-grade
            serous carcinoma compared to mesothelioma and is a marker of tumor
            progression and chemoresistance.
REFERENCE   3  (bases 1 to 6021)
  AUTHORS   So,C.W., Sourisseau,M., Sarwar,S., Evans,M.J. and Randall,G.
  TITLE     Roles of epidermal growth factor receptor, claudin-1 and occludin
            in multi-step entry of hepatitis C virus into polarized hepatoma
            spheroids
  JOURNAL   PLoS Pathog 19 (12), e1011887 (2023)
   PUBMED   38157366
  REMARK    GeneRIF: Roles of epidermal growth factor receptor, claudin-1 and
            occludin in multi-step entry of hepatitis C virus into polarized
            hepatoma spheroids.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6021)
  AUTHORS   O'Driscoll,M.C., Daly,S.B., Urquhart,J.E., Black,G.C., Pilz,D.T.,
            Brockmann,K., McEntagart,M., Abdel-Salam,G., Zaki,M., Wolf,N.I.,
            Ladda,R.L., Sell,S., D'Arrigo,S., Squier,W., Dobyns,W.B.,
            Livingston,J.H. and Crow,Y.J.
  TITLE     Recessive mutations in the gene encoding the tight junction protein
            occludin cause band-like calcification with simplified gyration and
            polymicrogyria
  JOURNAL   Am J Hum Genet 87 (3), 354-364 (2010)
   PUBMED   20727516
  REMARK    GeneRIF: The tight junction protein occludin (encoded by the OCLN
            gene) is involved in the pathogenesis of malformations of cortical
            development.
REFERENCE   5  (bases 1 to 6021)
  AUTHORS   Kohaar,I., Ploss,A., Korol,E., Mu,K., Schoggins,J.W., O'Brien,T.R.,
            Rice,C.M. and Prokunina-Olsson,L.
  TITLE     Splicing diversity of the human OCLN gene and its biological
            significance for hepatitis C virus entry
  JOURNAL   J Virol 84 (14), 6987-6994 (2010)
   PUBMED   20463075
  REMARK    GeneRIF: Data suggest that the natural splicing diversity of
            occludin might contribute to hepatitis C virus tissue tropism and
            possibly modify the outcome of HCV infection in humans.
REFERENCE   6  (bases 1 to 6021)
  AUTHORS   Mankertz,J., Waller,J.S., Hillenbrand,B., Tavalali,S., Florian,P.,
            Schoneberg,T., Fromm,M. and Schulzke,J.D.
  TITLE     Gene expression of the tight junction protein occludin includes
            differential splicing and alternative promoter usage
  JOURNAL   Biochem Biophys Res Commun 298 (5), 657-666 (2002)
   PUBMED   12419305
  REMARK    GeneRIF: different occludin variants were identified on the mRNA
            level
REFERENCE   7  (bases 1 to 6021)
  AUTHORS   Kimura,Y., Shiozaki,H., Hirao,M., Maeno,Y., Doki,Y., Inoue,M.,
            Monden,T., Ando-Akatsuka,Y., Furuse,M., Tsukita,S. and Monden,M.
  TITLE     Expression of occludin, tight-junction-associated protein, in human
            digestive tract
  JOURNAL   Am J Pathol 151 (1), 45-54 (1997)
   PUBMED   9212730
REFERENCE   8  (bases 1 to 6021)
  AUTHORS   Van Itallie,C.M. and Anderson,J.M.
  TITLE     Occludin confers adhesiveness when expressed in fibroblasts
  JOURNAL   J Cell Sci 110 (Pt 9), 1113-1121 (1997)
   PUBMED   9175707
REFERENCE   9  (bases 1 to 6021)
  AUTHORS   Ando-Akatsuka,Y., Saitou,M., Hirase,T., Kishi,M., Sakakibara,A.,
            Itoh,M., Yonemura,S., Furuse,M. and Tsukita,S.
  TITLE     Interspecies diversity of the occludin sequence: cDNA cloning of
            human, mouse, dog, and rat-kangaroo homologues
  JOURNAL   J Cell Biol 133 (1), 43-47 (1996)
   PUBMED   8601611
REFERENCE   10 (bases 1 to 6021)
  AUTHORS   Furuse,M., Itoh,M., Hirase,T., Nagafuchi,A., Yonemura,S.,
            Tsukita,S. and Tsukita,S.
  TITLE     Direct association of occludin with ZO-1 and its possible
            involvement in the localization of occludin at tight junctions
  JOURNAL   J Cell Biol 127 (6 Pt 1), 1617-1626 (1994)
   PUBMED   7798316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145146.2 and AC147575.1.
            
            On Aug 15, 2022 this sequence version replaced XM_017008914.3.
            
            Summary: This gene encodes an integral membrane protein that is
            required for cytokine-induced regulation of the tight junction
            paracellular permeability barrier. Mutations in this gene are
            thought to be a cause of band-like calcification with simplified
            gyration and polymicrogyria (BLC-PMG), an autosomal recessive
            neurologic disorder that is also known as pseudo-TORCH syndrome.
            Alternative splicing results in multiple transcript variants. A
            related pseudogene is present 1.5 Mb downstream on the q arm of
            chromosome 5. [provided by RefSeq, Apr 2011].
            
            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 :: BK001650.1, SRR14038194.3840942.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AC145146.2         13031-13143         c
            114-231             AC145146.2         1396-1513           c
            232-910             AC147575.1         51760-52438         c
            911-1056            AC147575.1         26740-26885         c
            1057-1272           AC147575.1         16460-16675         c
            1273-1444           AC147575.1         13478-13649         c
            1445-1486           AC147575.1         9994-10035          c
            1487-6021           AC147575.1         3475-8009           c
FEATURES             Location/Qualifiers
     source          1..6021
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..6021
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="occludin"
                     /db_xref="GeneID:100506658"
                     /db_xref="HGNC:HGNC:8104"
                     /db_xref="MIM:602876"
     exon            1..113
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            114..231
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    170..172
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="upstream in-frame stop codon"
     CDS             182..1588
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /EC_number="2.1.1.67"
                     /note="isoform c is encoded by transcript variant 4;
                     phosphatase 1, regulatory subunit 115"
                     /codon_start=1
                     /product="occludin isoform c"
                     /protein_id="NP_001397672.1"
                     /db_xref="CCDS:CCDS93725.1"
                     /db_xref="GeneID:100506658"
                     /db_xref="HGNC:HGNC:8104"
                     /db_xref="MIM:602876"
                     /translation="

MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIFACVASTLAWDRGYGTSLLGGSVGYPYGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSVIRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVDPQEVKNVSAGTQDVPSPPSDYVERVDSPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYETDYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADEYNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT"

     misc_feature    350..820
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="Membrane-associating domain; Region: MARVEL;
                     pfam01284"
                     /db_xref="CDD:366555"
     misc_feature    1277..1576
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="Occludin homology domain; Region: Occludin_ELL;
                     pfam07303"
                     /db_xref="CDD:462140"
     exon            232..910
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1056
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1272
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1444
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1486
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..6021
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5996..6001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="hexamer: AACAAA"
     polyA_site      6021
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="major polyA site"
ORIGIN      

acaccacacctacactcccgcgtccacctctccctccctgcttcctctggcggaggcggcaggaaccgagagccaggtccagagcgccgaggagccggtctaggacgcagcagattggtttatcttggaagctaaagggcattgctcatcctgaagatcagctgaccattgacaatcagccatgtcatccaggcctcttgaaagtccacctccttacaggcctgatgaattcaaaccgaatcattatgcaccaagcaatgacatatatggtggagagatgcatgttcgaccaatgctctctcagccagcctactctttttacccagaagatgaaattcttcacttctacaaatggacctctcctccaggagtgattcggatcctgtctatgctcattattgtgatgtgcattgccatctttgcctgtgtggcctccacgcttgcctgggacagaggctatggaacttcccttttaggaggtagtgtaggctacccttatggaggaagtggctttggtagctacggaagtggctatggctatggctatggttatggctatggctacggaggctatacagacccaagagcagcaaagggcttcatgttggccatggctgccttttgtttcattgccgcgttggtgatctttgttaccagtgttataagatctgaaatgtccagaacaagaagatactacttaagtgtgataatagtgagtgctatcctgggcatcatggtgtttattgccacaattgtctatataatgggagtgaacccaactgctcagtcttctggatctctatatggttcacaaatatatgccctctgcaaccaattttatacacctgcagctactggactctacgtggatcagtatttgtatcactactgtgttgtggatccccaggaggttaaaaatgtgtctgcaggcacacaggacgtgccttcacccccatctgactatgtggaaagagttgacagtcccatggcatactcttccaatggcaaagtgaatgacaagcggttttatccagagtcttcctataaatccacgccggttcctgaagtggttcaggagcttccattaacttcgcctgtggatgacttcaggcagcctcgttacagcagcggtggtaactttgagacaccttcaaaaagagcacctgcaaagggaagagcaggaaggtcaaagagaacagagcaagatcactatgagacagactacacaactggcggcgagtcctgtgatgagctggaggaggactggatcagggaatatccacctatcacttcagatcaacaaagacaactgtacaagaggaattttgacactggcctacaggaatacaagagcttacaatcagaacttgatgagatcaataaagaactctcccgtttggataaagaattggatgactatagagaagaaagtgaagagtacatggctgctgctgatgaatacaatagactgaagcaagtgaagggatctgcagattacaaaagtaagaagaatcattgcaagcagttaaagagcaaattgtcacacatcaagaagatggttggagactatgatagacagaaaacatagaaggctgatgccaagttgtttgagaaattaagtatctgacatctctgcaatcttctcagaaggcaaatgactttggaccataaccccggaagccaaacctctgtgagcatcacaaagttttggttgctttaacatcatcagtattgaagcattttataaatcgcttttgataatcaactgggctgaacactccaattaaggattttatgctttaaacattggttcttgtattaagaatgaaatactgtttgaggtttttaagccttaaaggaaggttctggtgtgaactaaactttcacaccccagacgatgtcttcatacctacatgtatttgtttgcataggtgatctcatttaatcctctcaaccacctttcagataactgttatttataatcacttttttccacataaggaaactgggttcctgcaatgaagtctctgaagtgaaactgcttgtttcctagcacacacttttggttaagtctgttttatgacttcattaataataaattccctggcctttcatattttagctactatatatgtgatgatctaccagcctccctattttttttctgttatataaatggttaaaagaggtttttcttaaataataaagatcatgtaaaagtaacaaatgtgtgaaatttaaagattgtaaatatatatttacttttttaagatcaaagtttaaaccccgtggttagaattttgtgtgtttttaaatactttttatctttttgcatgccttttttaaaaaaccaactagaacttttcattatatcagaatatctgattacatttataattcaattgtgacttgaactgtatcttacaggaatgttcaatttctatacatattttataaggtattaaacctggtgttttctttccataataacctgtttgatgttattagtgctgttaacatacagcaatggaaaaccacactcaggagttgtatctgttgttgtttatactcctttggatgctgtgctggttagtcgtttcccattcctttggctgtaagaatgctgatatgtctgggaatagaatgctataccacgaaataccaaataatttcaaatggtgcccttaaattgtatcacttttttaaaaattcagattcttattagtaaaattagttgatagcactgtgctgaccaagttgattgtgatcatcccagcttagacttttctaaaaacttttttttagaataatctataaactgaactttagtatgcatttcagatatttaggtatataatttttttttttttttgagacagagtctcactctcacccaggctggaatgcagtggtgctatcttggctcactgcaacctccacctcccgggttcaagcaattctcctgcctcagcctctcgagtagttgagactacaggtgcccatcaccatgcgtggctaatttttgtatttttaatagagacggggttttaccatagtggccaggttggtcttgaactcctgaccttgtggtctgcctgcctcggcctcccaaagtgctgggattacaggcgtgagccaccatgcctggcctaagtgtgtgtgtgtgtgtgtgtgtgtatttttttttttttttttttgagatggagttttgctcttgttgaacaggctggagtgcaatgtcgcgatctcagctcaccacaacctccgcctcccaggttcaaacaattctcctgcctcggcctcccgagtagctgggattacaggcatgcgccaccacacctggctaattttttttttgtatttttagtagagatggggtttctccatgttggtcaggctggtctcgaactcctgacctcaggtgatccatccacctcggcctcccaaagtgctgggattagaggcgtgagccactgtgcccggcctataatttttgatagatgattttgaattattttccagagataaaattttaaatgtttccattatatcactgatttatttctgcaaattgaataaattcttaattttctgcatgcacataatacaaaaggtattttcatagttttggatttataccaaatgaaaaggattctcttgatgagcacctttaactgatttttctgttaaagttttaacaatttgttcttggaagtcagttcgtgaaggcaagtttgtcagtattttcacaaaactattcagctgaatccagaaagtgaaacagcaagaatttgcattgtaaaattgtgttataaaattggactttgaaatttcaaaaataagaaaaattttcatgtgtatttatactaaataccgttttaggaaactaggatcagggtgtttctgttggcgttggcattaactagctggatgtaaatttgaaaagccactcaagcagcttcctagtctagaaagtcagaggtttagattagatttccgacatcccttccatttctgacctgtagttcttgtctggaattctgctttgttataaactattgttctaaggagtttgttgtgatagcacatagttcattttgtaaagattccctgcgtataaagtgatgccctacatatgtgattttgtattaaaagtatataggatcattattttattttgaaaaatttaaatacagaaaagtataaaatataagtaccatccgcccagaaataacatgtgttaatgttttgtcatatgtgctttatattttttgaaataaagtgaagtcaactagtatttatagtaaataagttacatacacataagtacatatatgatatttaatcctcacaacgatcttttgacatgtgaccatttcttattcttcttttatagacaaggaactaatgatatgatagattaactggctgttgtcacactagcaagtggcaaaacaagggattaggatcttagtctcttcaactgttagattctatacttccatcctgtgttgactttgttaatggattggataatgtgagatcactctgatgtaaataaagtatcctatattaatttcgagtgcattttaagtacttgtaacataaatgcttcctgtgaaatatctgtaaagacctgaatgggtacatgtgtgtaaagaagaatcagggcagaaaagtgcttttatcatggctccggggaccttagcttcagttggtgttgtgagaattcctcacacaaggacattctccttgcttcagcatcaggatggaagtgtttctcatctggactttttcaaagactcagctggaggaatcagaattcataatttcctggcagctcatgattctgctacactacaccatgccatctcttgtgtgaaaggacagatttgatggaggactatgtcatccctcatgcgtttcttattgtctacatttattctaatgggaagaagtgagcaaaaacacctcaataatttgggtagtttttagaaaaccttgttagtaaattagaatagtgccactttggcattatgagaaagaagcatggatacataactagggttttgtgtatgactacaacgaaatgcagaatggtgtctccaaaaggtttccaattgctgccacaagaactgcttggtattgcctacatgtgttgtcctatttttgctttgcccttctgcagttacttgctgtgggaccttggagaaattaacttagcctctctgtacttcagttttttgtatttgtaaaatatatttgtaataatctcatagttaagaaggtagttaatgtgtgactcagtccttgtctaaaagtaaatatgcctagctacccccatcttccaaagccagaaggtgaaactttaacaagttttctaaaagcaaattgtgttttttaaaagtgcatgtgtcatccaatcccatatgattgatctgtgctgggtgcagccttagaatgtaaattcttttgaattctaggcagagaatgcaggattggcattctaaatatttgtacatgataaacaaatgcttctttaggttagagcaaatagtttacttatcaagatcacaattgttagatactgttgtcaattacagaggttttagatgaggctttctggaatgatttagtttccctgtaagggagcctgtctattggaatagacaggttcacttctcccagtctttcaagttgcatgctttttatatctgattccactggctgagctgattgtgaatgtcctaaccctgttgattgtgtctggccactcatgggcaaagaacagattatccattctttatagttgtcttttagttttacaagttgaaaaaacatctgagtaggttagataatttattctaccactttgtaaatgattagaatatgtcagtcataatcatgccaagagattatggatttatgcatattttgttttgctgtagtaccattcctagttgaatcttaacatccatgtctaaaatctatacagaacaaatattacagttgggaaaactg

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