LOCUS       NM_001426402            1699 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens claudin 5 (CLDN5), transcript variant 5, mRNA.
ACCESSION   NM_001426402
VERSION     NM_001426402.1
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 1699)
  AUTHORS   Yang,L., Wu,W.J., Lyu,L.C., Tu,Y., Gu,H., Chen,X.F., Chai,Y.J.,
            Man,M.Q. and He,L.
  TITLE     MiRNA-224-5p regulates the defective permeability barrier in
            sensitive skin by targeting claudin-5
  JOURNAL   Skin Res Technol 30 (5), e13720 (2024)
   PUBMED   38743384
  REMARK    GeneRIF: MiRNA-224-5p regulates the defective permeability barrier
            in sensitive skin by targeting claudin-5.
REFERENCE   2  (bases 1 to 1699)
  AUTHORS   Tachibana,K., Hirayama,R., Sato,N., Hattori,K., Kato,T., Takeda,H.
            and Kondoh,M.
  TITLE     Association of Plasma Claudin-5 with Age and Alzheimer Disease
  JOURNAL   Int J Mol Sci 25 (3), 1419 (2024)
   PUBMED   38338697
  REMARK    GeneRIF: Association of Plasma Claudin-5 with Age and Alzheimer
            Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1699)
  AUTHORS   Huang,S., Zhang,J., Li,Y., Xu,Y., Jia,H., An,L., Wang,X. and
            Yang,Y.
  TITLE     Downregulation of Claudin5 promotes malignant progression and
            radioresistance through Beclin1-mediated autophagy in esophageal
            squamous cell carcinoma
  JOURNAL   J Transl Med 21 (1), 379 (2023)
   PUBMED   37303041
  REMARK    GeneRIF: Downregulation of Claudin5 promotes malignant progression
            and radioresistance through Beclin1-mediated autophagy in
            esophageal squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1699)
  AUTHORS   Boncuk Ulas,S., Guzey Aras,Y., Irmak Gozukara,S., Acar,T. and
            Acar,B.A.
  TITLE     Correlates of Zonulin and Claudin-5, markers of intestinal and
            brain endothelial permeability, in Parkinson's Disease: A pilot
            study
  JOURNAL   Parkinsonism Relat Disord 110, 105361 (2023)
   PUBMED   36963340
  REMARK    GeneRIF: Correlates of Zonulin and Claudin-5, markers of intestinal
            and brain endothelial permeability, in Parkinson's Disease: A pilot
            study.
REFERENCE   5  (bases 1 to 1699)
  AUTHORS   Hashimoto,Y., Greene,C., Munnich,A. and Campbell,M.
  TITLE     The CLDN5 gene at the blood-brain barrier in health and disease
  JOURNAL   Fluids Barriers CNS 20 (1), 22 (2023)
   PUBMED   36978081
  REMARK    GeneRIF: The CLDN5 gene at the blood-brain barrier in health and
            disease.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1699)
  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 1699)
  AUTHORS   Itoh,M., Furuse,M., Morita,K., Kubota,K., Saitou,M. and Tsukita,S.
  TITLE     Direct binding of three tight junction-associated MAGUKs, ZO-1,
            ZO-2, and ZO-3, with the COOH termini of claudins
  JOURNAL   J Cell Biol 147 (6), 1351-1363 (1999)
   PUBMED   10601346
REFERENCE   8  (bases 1 to 1699)
  AUTHORS   Morita,K., Furuse,M., Fujimoto,K. and Tsukita,S.
  TITLE     Claudin multigene family encoding four-transmembrane domain protein
            components of tight junction strands
  JOURNAL   Proc Natl Acad Sci U S A 96 (2), 511-516 (1999)
   PUBMED   9892664
REFERENCE   9  (bases 1 to 1699)
  AUTHORS   Peacock,R.E., Keen,T.J. and Inglehearn,C.F.
  TITLE     Analysis of a human gene homologous to rat ventral prostate.1
            protein
  JOURNAL   Genomics 46 (3), 443-449 (1997)
   PUBMED   9441748
REFERENCE   10 (bases 1 to 1699)
  AUTHORS   Sirotkin,H., Morrow,B., Saint-Jore,B., Puech,A., Das Gupta,R.,
            Patanjali,S.R., Skoultchi,A., Weissman,S.M. and Kucherlapati,R.
  TITLE     Identification, characterization, and precise mapping of a human
            gene encoding a novel membrane-spanning protein from the 22q11
            region deleted in velo-cardio-facial syndrome
  JOURNAL   Genomics 42 (2), 245-251 (1997)
   PUBMED   9192844
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CP068256.2.
            
            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.
            Mutations in this gene have been found in patients with
            velocardiofacial syndrome. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, May 2018].
            
            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 :: SRR3476690.792681.1, DB023636.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-183               CP068256.2         19901996-19902178   c
            184-1699            CP068256.2         19899868-19901383   c
FEATURES             Location/Qualifiers
     source          1..1699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..1699
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="claudin 5"
                     /db_xref="GeneID:7122"
                     /db_xref="HGNC:HGNC:2047"
                     /db_xref="MIM:602101"
     exon            1..183
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            184..1699
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    324..326
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="upstream in-frame stop codon"
     CDS             471..1127
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="isoform 2 is encoded by transcript variant 5;
                     transmembrane protein deleted in velocardiofacial
                     syndrome; transmembrane protein deleted in VCFS"
                     /codon_start=1
                     /product="claudin-5 isoform 2"
                     /protein_id="NP_001413331.1"
                     /db_xref="GeneID:7122"
                     /db_xref="HGNC:HGNC:2047"
                     /db_xref="MIM:602101"
                     /translation="

MGSAALEILGLVLCLVGWGGLILACGLPMWQVTAFLDHNIVTAQTTWKGLWMSCVVQSTGHMQCKVYDSVLALSTEVQAARALTVSAVLLAFVALFVTLAGAQCTTCVAPGPAKARVALTGGVLYLFCGLLALVPLCWFANIVVREFYDPSVPVSQKYELGAALYIGWAATALLMVGGCLLCCGAWVCTGRPDLSFPVKYSAPRRPTATGDYDKKNYV"

     misc_feature    483..1013
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl21598"
                     /db_xref="CDD:473919"
     misc_feature    492..554
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="propagated from UniProtKB/Swiss-Prot (O00501.1);
                     transmembrane region"
     misc_feature    714..776
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="propagated from UniProtKB/Swiss-Prot (O00501.1);
                     transmembrane region"
     misc_feature    837..899
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="propagated from UniProtKB/Swiss-Prot (O00501.1);
                     transmembrane region"
     misc_feature    948..1010
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="propagated from UniProtKB/Swiss-Prot (O00501.1);
                     transmembrane region"
     misc_feature    1119..1124
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="propagated from UniProtKB/Swiss-Prot (O00501.1);
                     Region: Interactions with TJP1, TJP2 and TJP3.
                     /evidence=ECO:0000250"
     regulatory      1680..1685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="hexamer: AGTAAA"
     polyA_site      1699
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /note="major polyA site"
ORIGIN      

gtctctcctgtctgaaggccagagcaggctgctaggcctggggccaccactgcccctgggtgctacacccagtgtgctgggtcactgggaacttcctgaagtggtgtcacctgaactgggcccccaaggatggggtgcgggcagtaccgcaggaagaggagcagcccctgtgaagattgagagctgccagaggctctgtgattggctgcggcacgatgacccgcgcacggattggctgcttcgggccggggggccgggcccgggggacagaatccgcccccgaaccttcaaagagggtaccccccggcaggagctggcagacctaggaggtgcgacagacccgcggggcaaacggactggggccaagagccgggagcgcgggcgcaaaggcaccagggcccgcccagggcgccgcgcagcacggccttgggggttctgcgggccttcgggtgcgcgtctcgcctctagccatggggtccgcagcgttggagatcctgggcctggtgctgtgcctggtgggctgggggggtctgatcctggcgtgcgggctgcccatgtggcaggtgaccgccttcctggaccacaacatcgtgacggcgcagaccacctggaaggggctgtggatgtcgtgcgtggtgcagagcaccgggcacatgcagtgcaaagtgtacgactcggtgctggctctgagcaccgaggtgcaggcggcgcgggcgctcaccgtgagcgccgtgctgctggcgttcgttgcgctcttcgtgaccctggcgggcgcgcagtgcaccacctgcgtggccccgggcccggccaaggcgcgtgtggccctcacgggaggcgtgctctacctgttttgcgggctgctggcgctcgtgccactctgctggttcgccaacattgtcgtccgcgagttttacgacccgtctgtgcccgtgtcgcagaagtacgagctgggcgcagcgctgtacatcggctgggcggccaccgcgctgctcatggtaggcggctgcctcttgtgctgcggcgcctgggtctgcaccggccgtcccgacctcagcttccccgtgaagtactcagcgccgcggcggcccacggccaccggcgactacgacaagaagaactacgtctgagggcgctgggcacggccgggcccctcctgccagccacgcctgcgaggcgttggataagcctggggagccccgcatggaccgcggcttccgccgggtagcgcggcgcgcaggctcctcggaacgtccggctctgcgccccgacgcggctcctggatccgctcctgcctgcgcccgcagctgaccttctcctgccactagcccggccctgcccttaacagacggaatgaagtttccttttctgtgcgcggcgctgtttccataggcagagcgggtgtcagactgaggatttcgcttcccctccaagacgctgggggtcttggctgctgccttacttcccagaggctcctgctgacttcggaggggcggatgcagagcccagggcccccaccggaagatgtgtacagctggtctttactccatcggcagggcccgagcccagggaccagtgacttggcctggacctcccggtctcactccagcatctccccaggcaaggcttgtgggcaccggagcttgagagagggcgggagtgggaaggctaagaatctgcttagtaaatggtttgaactctc

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