LOCUS       NM_001205254            6181 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens occludin (OCLN), transcript variant 2, mRNA.
ACCESSION   NM_001205254 XM_003118540
VERSION     NM_001205254.2
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 6181)
  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 6181)
  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 6181)
  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 6181)
  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 6181)
  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 6181)
  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 6181)
  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 6181)
  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 6181)
  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 6181)
  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 DB226845.1, BC029886.1,
            AK290697.1, AC147575.1 and AI093221.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001205254.1.
            
            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].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.36304.1,
                                           SRR1803617.76260.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396442.7/ ENSP00000379719.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DB226845.1         28-28
            2-876               BC029886.1         1-875
            877-1115            AK290697.1         866-1104
            1116-2383           BC029886.1         1115-2382
            2384-6141           AC147575.1         3515-7272           c
            6142-6181           AI093221.1         14-53               c
FEATURES             Location/Qualifiers
     source          1..6181
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..6181
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="occludin"
                     /db_xref="GeneID:100506658"
                     /db_xref="HGNC:HGNC:8104"
                     /db_xref="MIM:602876"
     exon            1..111
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            112..229
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..1748
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /EC_number="2.1.1.67"
                     /note="isoform a is encoded by transcript variant 2;
                     phosphatase 1, regulatory subunit 115"
                     /codon_start=1
                     /product="occludin isoform a"
                     /protein_id="NP_001192183.1"
                     /db_xref="CCDS:CCDS4006.1"
                     /db_xref="GeneID:100506658"
                     /db_xref="HGNC:HGNC:8104"
                     /db_xref="MIM:602876"
                     /translation="MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAY
                     SFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIFACVASTLAWDRGYGTSLLGGSV
                     GYPYGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
                     IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQ
                     FYTPAATGLYVDQYLYHYCVVDPQEAIAIVLGFMIIVAFALIIFFAVKTRRKMDRYDK
                     SNILWDKEHIYDEQPPNVEEWVKNVSAGTQDVPSPPSDYVERVDSPMAYSSNGKVNDK
                     RFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNFETPSKRAPAKGRAGRSKR
                     TEQDHYETDYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSEL
                     DEINKELSRLDKELDDYREESEEYMAAADEYNRLKQVKGSADYKSKKNHCKQLKSKLS
                     HIKKMVGDYDRQKT"
     exon            230..908
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1070
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1216
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1432
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1604
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1646
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1647..6181
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6156..6161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="hexamer: AACAAA"
     polyA_site      6181
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /note="major polyA site"
ORIGIN      
        1 agtccccggc tgagcgctgg cggtcggtgc ggcgtcaggt gcgcccgcca ggtgagcgcg
       61 ctccctggca ccgttggccc ccggagggtc gggcccagtt gcggcgagcg gattggttta
      121 tcttggaagc taaagggcat tgctcatcct gaagatcagc tgaccattga caatcagcca
      181 tgtcatccag gcctcttgaa agtccacctc cttacaggcc tgatgaattc aaaccgaatc
      241 attatgcacc aagcaatgac atatatggtg gagagatgca tgttcgacca atgctctctc
      301 agccagccta ctctttttac ccagaagatg aaattcttca cttctacaaa tggacctctc
      361 ctccaggagt gattcggatc ctgtctatgc tcattattgt gatgtgcatt gccatctttg
      421 cctgtgtggc ctccacgctt gcctgggaca gaggctatgg aacttccctt ttaggaggta
      481 gtgtaggcta cccttatgga ggaagtggct ttggtagcta cggaagtggc tatggctatg
      541 gctatggtta tggctatggc tacggaggct atacagaccc aagagcagca aagggcttca
      601 tgttggccat ggctgccttt tgtttcattg ccgcgttggt gatctttgtt accagtgtta
      661 taagatctga aatgtccaga acaagaagat actacttaag tgtgataata gtgagtgcta
      721 tcctgggcat catggtgttt attgccacaa ttgtctatat aatgggagtg aacccaactg
      781 ctcagtcttc tggatctcta tatggttcac aaatatatgc cctctgcaac caattttata
      841 cacctgcagc tactggactc tacgtggatc agtatttgta tcactactgt gttgtggatc
      901 cccaggaggc cattgccatt gtactggggt tcatgattat tgtggctttt gctttaataa
      961 ttttctttgc tgtgaaaact cgaagaaaga tggacaggta tgacaagtcc aatattttgt
     1021 gggacaagga acacatttat gatgagcagc cccccaatgt cgaggagtgg gttaaaaatg
     1081 tgtctgcagg cacacaggac gtgccttcac ccccatctga ctatgtggaa agagttgaca
     1141 gtcccatggc atactcttcc aatggcaaag tgaatgacaa gcggttttat ccagagtctt
     1201 cctataaatc cacgccggtt cctgaagtgg ttcaggagct tccattaact tcgcctgtgg
     1261 atgacttcag gcagcctcgt tacagcagcg gtggtaactt tgagacacct tcaaaaagag
     1321 cacctgcaaa gggaagagca ggaaggtcaa agagaacaga gcaagatcac tatgagacag
     1381 actacacaac tggcggcgag tcctgtgatg agctggagga ggactggatc agggaatatc
     1441 cacctatcac ttcagatcaa caaagacaac tgtacaagag gaattttgac actggcctac
     1501 aggaatacaa gagcttacaa tcagaacttg atgagatcaa taaagaactc tcccgtttgg
     1561 ataaagaatt ggatgactat agagaagaaa gtgaagagta catggctgct gctgatgaat
     1621 acaatagact gaagcaagtg aagggatctg cagattacaa aagtaagaag aatcattgca
     1681 agcagttaaa gagcaaattg tcacacatca agaagatggt tggagactat gatagacaga
     1741 aaacatagaa ggctgatgcc aagttgtttg agaaattaag tatctgacat ctctgcaatc
     1801 ttctcagaag gcaaatgact ttggaccata accccggaag ccaaacctct gtgagcatca
     1861 caaagttttg gttgctttaa catcatcagt attgaagcat tttataaatc gcttttgata
     1921 atcaactggg ctgaacactc caattaagga ttttatgctt taaacattgg ttcttgtatt
     1981 aagaatgaaa tactgtttga ggtttttaag ccttaaagga aggttctggt gtgaactaaa
     2041 ctttcacacc ccagacgatg tcttcatacc tacatgtatt tgtttgcata ggtgatctca
     2101 tttaatcctc tcaaccacct ttcagataac tgttatttat aatcactttt ttccacataa
     2161 ggaaactggg ttcctgcaat gaagtctctg aagtgaaact gcttgtttcc tagcacacac
     2221 ttttggttaa gtctgtttta tgacttcatt aataataaat tccctggcct ttcatatttt
     2281 agctactata tatgtgatga tctaccagcc tccctatttt ttttctgtta tataaatggt
     2341 taaaagaggt ttttcttaaa taataaagat catgtaaaag taacaaatgt gtgaaattta
     2401 aagattgtaa atatatattt acttttttaa gatcaaagtt taaaccccgt ggttagaatt
     2461 ttgtgtgttt ttaaatactt tttatctttt tgcatgcctt ttttaaaaaa ccaactagaa
     2521 cttttcatta tatcagaata tctgattaca tttataattc aattgtgact tgaactgtat
     2581 cttacaggaa tgttcaattt ctatacatat tttataaggt attaaacctg gtgttttctt
     2641 tccataataa cctgtttgat gttattagtg ctgttaacat acagcaatgg aaaaccacac
     2701 tcaggagttg tatctgttgt tgtttatact cctttggatg ctgtgctggt tagtcgtttc
     2761 ccattccttt ggctgtaaga atgctgatat gtctgggaat agaatgctat accacgaaat
     2821 accaaataat ttcaaatggt gcccttaaat tgtatcactt ttttaaaaat tcagattctt
     2881 attagtaaaa ttagttgata gcactgtgct gaccaagttg attgtgatca tcccagctta
     2941 gacttttcta aaaacttttt tttagaataa tctataaact gaactttagt atgcatttca
     3001 gatatttagg tatataattt tttttttttt ttgagacaga gtctcactct cacccaggct
     3061 ggaatgcagt ggtgctatct tggctcactg caacctccac ctcccgggtt caagcaattc
     3121 tcctgcctca gcctctcgag tagttgagac tacaggtgcc catcaccatg cgtggctaat
     3181 ttttgtattt ttaatagaga cggggtttta ccatagtggc caggttggtc ttgaactcct
     3241 gaccttgtgg tctgcctgcc tcggcctccc aaagtgctgg gattacaggc gtgagccacc
     3301 atgcctggcc taagtgtgtg tgtgtgtgtg tgtgtgtatt tttttttttt tttttttgag
     3361 atggagtttt gctcttgttg aacaggctgg agtgcaatgt cgcgatctca gctcaccaca
     3421 acctccgcct cccaggttca aacaattctc ctgcctcggc ctcccgagta gctgggatta
     3481 caggcatgcg ccaccacacc tggctaattt tttttttgta tttttagtag agatggggtt
     3541 tctccatgtt ggtcaggctg gtctcgaact cctgacctca ggtgatccat ccacctcggc
     3601 ctcccaaagt gctgggatta gaggcgtgag ccactgtgcc cggcctataa tttttgatag
     3661 atgattttga attattttcc agagataaaa ttttaaatgt ttccattata tcactgattt
     3721 atttctgcaa attgaataaa ttcttaattt tctgcatgca cataatacaa aaggtatttt
     3781 catagttttg gatttatacc aaatgaaaag gattctcttg atgagcacct ttaactgatt
     3841 tttctgttaa agttttaaca atttgttctt ggaagtcagt tcgtgaaggc aagtttgtca
     3901 gtattttcac aaaactattc agctgaatcc agaaagtgaa acagcaagaa tttgcattgt
     3961 aaaattgtgt tataaaattg gactttgaaa tttcaaaaat aagaaaaatt ttcatgtgta
     4021 tttatactaa ataccgtttt aggaaactag gatcagggtg tttctgttgg cgttggcatt
     4081 aactagctgg atgtaaattt gaaaagccac tcaagcagct tcctagtcta gaaagtcaga
     4141 ggtttagatt agatttccga catcccttcc atttctgacc tgtagttctt gtctggaatt
     4201 ctgctttgtt ataaactatt gttctaagga gtttgttgtg atagcacata gttcattttg
     4261 taaagattcc ctgcgtataa agtgatgccc tacatatgtg attttgtatt aaaagtatat
     4321 aggatcatta ttttattttg aaaaatttaa atacagaaaa gtataaaata taagtaccat
     4381 ccgcccagaa ataacatgtg ttaatgtttt gtcatatgtg ctttatattt tttgaaataa
     4441 agtgaagtca actagtattt atagtaaata agttacatac acataagtac atatatgata
     4501 tttaatcctc acaacgatct tttgacatgt gaccatttct tattcttctt ttatagacaa
     4561 ggaactaatg atatgataga ttaactggct gttgtcacac tagcaagtgg caaaacaagg
     4621 gattaggatc ttagtctctt caactgttag attctatact tccatcctgt gttgactttg
     4681 ttaatggatt ggataatgtg agatcactct gatgtaaata aagtatccta tattaatttc
     4741 gagtgcattt taagtacttg taacataaat gcttcctgtg aaatatctgt aaagacctga
     4801 atgggtacat gtgtgtaaag aagaatcagg gcagaaaagt gcttttatca tggctccggg
     4861 gaccttagct tcagttggtg ttgtgagaat tcctcacaca aggacattct ccttgcttca
     4921 gcatcaggat ggaagtgttt ctcatctgga ctttttcaaa gactcagctg gaggaatcag
     4981 aattcataat ttcctggcag ctcatgattc tgctacacta caccatgcca tctcttgtgt
     5041 gaaaggacag atttgatgga ggactatgtc atccctcatg cgtttcttat tgtctacatt
     5101 tattctaatg ggaagaagtg agcaaaaaca cctcaataat ttgggtagtt tttagaaaac
     5161 cttgttagta aattagaata gtgccacttt ggcattatga gaaagaagca tggatacata
     5221 actagggttt tgtgtatgac tacaacgaaa tgcagaatgg tgtctccaaa aggtttccaa
     5281 ttgctgccac aagaactgct tggtattgcc tacatgtgtt gtcctatttt tgctttgccc
     5341 ttctgcagtt acttgctgtg ggaccttgga gaaattaact tagcctctct gtacttcagt
     5401 tttttgtatt tgtaaaatat atttgtaata atctcatagt taagaaggta gttaatgtgt
     5461 gactcagtcc ttgtctaaaa gtaaatatgc ctagctaccc ccatcttcca aagccagaag
     5521 gtgaaacttt aacaagtttt ctaaaagcaa attgtgtttt ttaaaagtgc atgtgtcatc
     5581 caatcccata tgattgatct gtgctgggtg cagccttaga atgtaaattc ttttgaattc
     5641 taggcagaga atgcaggatt ggcattctaa atatttgtac atgataaaca aatgcttctt
     5701 taggttagag caaatagttt acttatcaag atcacaattg ttagatactg ttgtcaatta
     5761 cagaggtttt agatgaggct ttctggaatg atttagtttc cctgtaaggg agcctgtcta
     5821 ttggaataga caggttcact tctcccagtc tttcaagttg catgcttttt atatctgatt
     5881 ccactggctg agctgattgt gaatgtccta accctgttga ttgtgtctgg ccactcatgg
     5941 gcaaagaaca gattatccat tctttatagt tgtcttttag ttttacaagt tgaaaaaaca
     6001 tctgagtagg ttagataatt tattctacca ctttgtaaat gattagaata tgtcagtcat
     6061 aatcatgcca agagattatg gatttatgca tattttgttt tgctgtagta ccattcctag
     6121 ttgaatctta acatccatgt ctaaaatcta tacagaacaa atattacagt tgggaaaact
     6181 g
//
