LOCUS       NP_005593                207 aa            linear   PRI 10-FEB-2025
DEFINITION  claudin-11 isoform 1 [Homo sapiens].
ACCESSION   NP_005593
VERSION     NP_005593.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 207)
  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  (residues 1 to 207)
  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  (residues 1 to 207)
  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  (residues 1 to 207)
  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  (residues 1 to 207)
  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  (residues 1 to 207)
  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  (residues 1 to 207)
  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  (residues 1 to 207)
  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  (residues 1 to 207)
  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 (residues 1 to 207)
  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 Oct 20, 2000 this sequence version replaced NP_005593.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2"
     Protein         1..207
                     /product="claudin-11 isoform 1"
                     /note="oligodendrocyte transmembrane protein;
                     oligodendrocyte-specific protein"
                     /calculated_mol_wt=21862
     Site            2..22
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75508.2)"
     Region          6..172
                     /region_name="PMP22_Claudin"
                     /note="PMP-22/EMP/MP20/Claudin family; cl21598"
                     /db_xref="CDD:473919"
     Site            83..103
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75508.2)"
     Site            123..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75508.2)"
     Site            158..178
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75508.2)"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60771; propagated from
                     UniProtKB/Swiss-Prot (O75508.2)"
     Site            198
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60771; propagated from
                     UniProtKB/Swiss-Prot (O75508.2)"
     CDS             1..207
                     /gene="CLDN11"
                     /gene_synonym="HLD22; OSP; OTM"
                     /coded_by="NM_005602.6:200..823"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3213.1"
                     /db_xref="GeneID:5010"
                     /db_xref="HGNC:HGNC:8514"
                     /db_xref="MIM:601326"
ORIGIN      
        1 mvatclqvvg fvtsfvgwig vivttstndw vvtcgytipt crkldelgsk glwadcvmat
       61 glyhckplvd ililpgyvqa cralmiaasv lglpaillll tvlpcirmgq epgvakyrra
      121 qlagvllill alcalvatiw fpvcahrett ivsfgyslya gwigavlclv ggcvilccag
      181 daqafgenrf yytagssspt haksahv
//
