LOCUS       NM_005602               2758 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.
ACCESSION   NM_005602
VERSION     NM_005602.6
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 2758)
  AUTHORS   Bilgic,A., Ferahkaya,H., Karagoz,H., Kilinc,I. and Energin,V.M.
  TITLE     Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and
            beta-catenin levels in preschool children with autism spectrum
            disorder
  JOURNAL   Nord J Psychiatry 77 (5), 506-511 (2023)
   PUBMED   36662163
  REMARK    GeneRIF: Serum claudin-5, claudin-11, occludin, vinculin, paxillin,
            and beta-catenin levels in preschool children with autism spectrum
            disorder.
REFERENCE   2  (bases 1 to 2758)
  AUTHORS   Shen,Y., Xu,Y., Huang,L., Chi,Y. and Meng,L.
  TITLE     MiR-205 suppressed the malignant behaviors of breast cancer cells
            by targeting CLDN11 via modulation of the epithelial-to-mesenchymal
            transition
  JOURNAL   Aging (Albany NY) 13 (9), 13073-13086 (2021)
   PUBMED   33971623
  REMARK    GeneRIF: MiR-205 suppressed the malignant behaviors of breast
            cancer cells by targeting CLDN11 via modulation of the
            epithelial-to-mesenchymal transition.
REFERENCE   3  (bases 1 to 2758)
  AUTHORS   Riedhammer,K.M., Stockler,S., Ploski,R., Wenzel,M.,
            Adis-Dutschmann,B., Ahting,U., Alhaddad,B., Blaschek,A.,
            Haack,T.B., Kopajtich,R., Lee,J., Murcia Pienkowski,V., Pollak,A.,
            Szymanska,K., Tarailo-Graovac,M., van der Lee,R., van
            Karnebeek,C.D., Meitinger,T., Krageloh-Mann,I. and Vill,K.
  TITLE     De novo stop-loss variants in CLDN11 cause hypomyelinating
            leukodystrophy
  JOURNAL   Brain 144 (2), 411-419 (2021)
   PUBMED   33313762
  REMARK    GeneRIF: De novo stop-loss variants in CLDN11 cause hypomyelinating
            leukodystrophy.
            Erratum:[Brain. 2021 Jun 22;144(5):e48. doi:
            10.1093/brain/awab034.. PMID: 33991082]
REFERENCE   4  (bases 1 to 2758)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2758)
  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   6  (bases 1 to 2758)
  AUTHORS   Kniesel,U. and Wolburg,H.
  TITLE     Tight junctions of the blood-brain barrier
  JOURNAL   Cell Mol Neurobiol 20 (1), 57-76 (2000)
   PUBMED   10690502
  REMARK    Review article
REFERENCE   7  (bases 1 to 2758)
  AUTHORS   Gow,A., Southwood,C.M., Li,J.S., Pariali,M., Riordan,G.P.,
            Brodie,S.E., Danias,J., Bronstein,J.M., Kachar,B. and
            Lazzarini,R.A.
  TITLE     CNS myelin and sertoli cell tight junction strands are absent in
            Osp/claudin-11 null mice
  JOURNAL   Cell 99 (6), 649-659 (1999)
   PUBMED   10612400
REFERENCE   8  (bases 1 to 2758)
  AUTHORS   Shafit-Zagardo,B., Kress,Y., Zhao,M.L. and Lee,S.C.
  TITLE     A novel microtubule-associated protein-2 expressed in
            oligodendrocytes in multiple sclerosis lesions
  JOURNAL   J Neurochem 73 (6), 2531-2537 (1999)
   PUBMED   10582615
REFERENCE   9  (bases 1 to 2758)
  AUTHORS   Bronstein,J.M., Popper,P., Micevych,P.E. and Farber,D.B.
  TITLE     Isolation and characterization of a novel oligodendrocyte-specific
            protein
  JOURNAL   Neurology 47 (3), 772-778 (1996)
   PUBMED   8797478
REFERENCE   10 (bases 1 to 2758)
  AUTHORS   Bronstein,J.M., Kozak,C.A., Chen,X.N., Wu,S., Danciger,M.,
            Korenberg,J.R. and Farber,D.B.
  TITLE     Chromosomal localization of murine and human
            oligodendrocyte-specific protein genes
  JOURNAL   Genomics 34 (2), 255-257 (1996)
   PUBMED   8661061
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC328248.1, BC013577.1 and
            AC008041.5.
            
            On Jun 2, 2019 this sequence version replaced NM_005602.5.
            
            Summary: This gene encodes a member of the claudin family. Claudins
            are integral membrane proteins and components of tight junction
            strands. Tight junction strands serve as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space between epithelial or endothelial cell sheets,
            and also play critical roles in maintaining cell polarity and
            signal transductions. The protein encoded by this gene is a major
            component of central nervous system (CNS) myelin and plays an
            important role in regulating proliferation and migration of
            oligodendrocytes. Mouse studies showed that the gene deficiency
            results in deafness and loss of the Sertoli cell epithelial
            phenotype in the testis. This protein is a tight junction protein
            at the human blood-testis barrier (BTB), and the BTB disruption is
            related to a dysfunction of this gene. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) is the longer transcript and
            encodes the longer isoform (1).
            
            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 :: SRR7410571.70987.1,
                                           SRR1660803.370581.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000064724.8/ ENSP00000064724.4
            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
            1-9                 DC328248.1         4-12
            10-1090             BC013577.1         1-1081
            1091-2758           AC008041.5         17342-19009
FEATURES             Location/Qualifiers
     source          1..2758
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2"
     gene            1..2758
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /note="claudin 11"
                     /db_xref="GeneID:5010"
                     /db_xref="HGNC:HGNC:8514"
                     /db_xref="MIM:601326"
     exon            1..425
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..823
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /note="isoform 1 is encoded by transcript variant 1;
                     oligodendrocyte transmembrane protein;
                     oligodendrocyte-specific protein"
                     /codon_start=1
                     /product="claudin-11 isoform 1"
                     /protein_id="NP_005593.2"
                     /db_xref="CCDS:CCDS3213.1"
                     /db_xref="GeneID:5010"
                     /db_xref="HGNC:HGNC:8514"
                     /db_xref="MIM:601326"
                     /translation="MVATCLQVVGFVTSFVGWIGVIVTTSTNDWVVTCGYTIPTCRKL
                     DELGSKGLWADCVMATGLYHCKPLVDILILPGYVQACRALMIAASVLGLPAILLLLTV
                     LPCIRMGQEPGVAKYRRAQLAGVLLILLALCALVATIWFPVCAHRETTIVSFGYSLYA
                     GWIGAVLCLVGGCVILCCAGDAQAFGENRFYYTAGSSSPTHAKSAHV"
     exon            426..590
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /inference="alignment:Splign:2.1.0"
     exon            591..2758
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2141..2146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /note="hexamer: AATAAA"
     polyA_site      2166
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /note="major polyA site"
     regulatory      2299..2304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /note="hexamer: ATTAAA"
     polyA_site      2317
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
     regulatory      2569..2574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /note="hexamer: AATACA"
     polyA_site      2589
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
ORIGIN      
        1 agcgctgctg tccccgccgt gcgcccttcg ccgctgagct cgcagcctcc ggcgcccacc
       61 tccacctcca gtgtcccgcc tcgggccgtc gccctccagc ggctcgcgag cgtgggagac
      121 gtacctgggc aggcactgtc cagcccaggc ccaggcacag ccgtgagggg cgaggcacgg
      181 ggacatcctg gcggccacca tggtggccac gtgcctgcag gtggtgggct tcgtcacgag
      241 cttcgtgggc tggatcgggg tcatcgtgac cacctccacc aatgactggg tggtgacctg
      301 cggctacacc atccccacct gccgcaagct ggatgagctg ggctccaagg ggctgtgggc
      361 cgactgcgtc atggccacgg ggctgtacca ctgcaagccc ctggtggaca tcctcatcct
      421 gccgggctac gtgcaggcct gccgcgccct gatgattgct gcctcggtcc tgggtctgcc
      481 ggccatttta ctgctgctga ctgttcttcc ctgcatccgg atgggccagg agcccggtgt
      541 ggctaagtac aggcgggccc agctggctgg tgttttgctc attctgctgg ctctctgcgc
      601 ccttgttgcc accatctggt tccctgtgtg cgcccaccgt gagaccacca tcgtgagctt
      661 tggctactcc ctgtatgcag gctggattgg tgctgtgctg tgcctcgtgg gtggctgtgt
      721 catcctctgc tgcgctggag atgcccaggc ctttggtgaa aaccgtttct actacactgc
      781 gggctctagc tccccgactc atgcgaagag tgcccacgta taagagggct gcccggctgc
      841 ccacagaggt gctgtagatg ctgggcccag ggccctaggt ttgctcgtca cagtgtgggg
      901 aagcccattc ctctgccagg ctctaaagcc aaaggtctag aaaagcatcc tgtctggcat
      961 tttgtagtct taacttctcc ccatttcccc catcttttgg ttgccttaaa agaaatctct
     1021 agctcagata atgcccagac atttttttcc cttggtgttg cccctattag ctcttttctt
     1081 gggcattctt ttgctgttta ttaaaaatat attatatata ttttgtttct ttaaatttca
     1141 aatgttttgc aaacatcact gagttaggtg ggggtgggga agagaaatac aagatacttt
     1201 tttttttttt tttttttttt tttttttaaa tagggcctca ctctgttgct caggctggag
     1261 tgcggtggtg tgatctcggc tcatgtagcc tcaacctccc cggctcaagt gatcctcctg
     1321 cctcagcctc ccaagtagct gggactacag gcgttcacta ctacacccag ctaattttta
     1381 agttttttat agagatgagg gctccctatg ttgcccaggt tggtctcgaa ctcctggact
     1441 caaagtatcc tcccgcctcg gcctcccaaa gtgttgggat tataggagtg agccaccaca
     1501 ccggccaaga tgcttttcaa actgatacag atgacaatgg gagcctcata aagatggctt
     1561 ttgtttcttc ccttcaaggt catttacttg tacgagacag aaaaagatag cattggggac
     1621 atgggatggg ggagggaggg caatagtgga acgaactttc catgggaaac tttccctttt
     1681 gtaagttgag ggccaggggt agggatattt tttagtttgt gattttacat ttatctgtac
     1741 atactttttc aagattgatc atttttataa ccatggtttt cctgaaatcc tcaattcatc
     1801 aatatgaagg aaatgaacca catagacttt atgcaataaa taacagtgca agtgagtata
     1861 actctaactg atgttccaca aaacattttt gatttcaggt ttgtatgatg tagtttttaa
     1921 tcgtacattt tcatatgctt caaactaaca catttttaaa gctttccccc acttttctct
     1981 ctatttgtat tgttagccat cttgaagtga tgttgtttaa cataaattgt actgttgaat
     2041 ttggctttac gggtgtaaac actgatggta tatcagtatc tgagacccca aactctccaa
     2101 atactgatgg tgcattttat tcttgaagtg aaatctgtgc aataaaataa cagactgtct
     2161 gcaaaactgg ccttcaatct tctgttgtat ccagaggtat cattattgat ttaaaaaaat
     2221 ctcattaatc tctactggta atttataggg aatctgatca gtgattcaag aacaagtaat
     2281 tctgcattgc cttgaataat taaaaagtta tattttattc acggtattgc agtggtaatt
     2341 tgtggtcatg aaagcataac ctcagtgctc tctaggtttc ttaagtgggg tgactttatg
     2401 gcatctttaa tcatcgatca atgggcagca atcagaaaca aagttctcag cattatgcag
     2461 ttaatgtcct tcatctactt ctaacactta gtaaaggaat tgattggcta ggtataaaaa
     2521 gagaattaac gaaacctatt ttattggatc tttaagtaat aatatctaaa tacatttcgt
     2581 tcaaacatac atatgtagct gtttggacat tttggacaaa gacacattga gttgattttt
     2641 atttgttttt ctgttccaga aacttcatca agttacgggc ctggtctaag aaaacacatt
     2701 gcaatctatt ttggcagact tctttcaaat aaaatactaa tttcattagc tgatagta
//
