LOCUS       NM_001185023            1457 bp    mRNA    linear   PRI 24-OCT-2020
DEFINITION  Homo sapiens claudin 7 (CLDN7), transcript variant 3, mRNA.
ACCESSION   NM_001185023
VERSION     NM_001185023.2
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 1457)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            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 JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1457)
  AUTHORS   Kyuno D, Zhao K, Schnolzer M, Provaznik J, Hackert T and Zoller M.
  TITLE     Claudin7-dependent exosome-promoted reprogramming of
            nonmetastasizing tumor cells
  JOURNAL   Int J Cancer 145 (8), 2182-2200 (2019)
   PUBMED   30945750
  REMARK    GeneRIF: Results how that cancer-initiating cell (CIC) -tumor
            exosomes (TEX) rescue Claudin7 (cld7)-knockdown (kd) (cld7kd) tumor
            progression.
REFERENCE   3  (bases 1 to 1457)
  AUTHORS   Zhou J, Yang X, Zhou L, Zhang P and Wang C.
  TITLE     Combined Immunohistochemistry for the 'Three 7' Markers (CK7,
            CD117, and Claudin-7) Is Useful in the Diagnosis of Chromophobe
            Renal Cell Carcinoma and for the Exclusion of Mimics: Diagnostic
            Experience from a Single Institution
  JOURNAL   Dis Markers 2019, 4708154 (2019)
   PUBMED   31737127
  REMARK    GeneRIF: Claudin-7 is frequently expressed in the chromophobe renal
            cell carcinoma with high specificity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1457)
  AUTHORS   Tian JB, Cao L and Dong GL.
  TITLE     Long noncoding RNA DDX11-AS1 induced by YY1 accelerates colorectal
            cancer progression through targeting miR-873/CLDN7 axis
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (13), 5714-5729 (2019)
   PUBMED   31298324
  REMARK    GeneRIF: Long noncoding RNA DDX11-AS1 induced by YY1 accelerates
            colorectal cancer progression through targeting miR-873/CLDN7 axis.
REFERENCE   5  (bases 1 to 1457)
  AUTHORS   Zhou S, Piao X, Wang C, Wang R and Song Z.
  TITLE     Identification of claudin1, 3, 7 and 8 as prognostic markers in
            human laryngeal carcinoma
  JOURNAL   Mol Med Rep 20 (1), 393-400 (2019)
   PUBMED   31115553
  REMARK    GeneRIF: the findings of the present study demonstrated that the
            expression levels of CLDN1, 3, 7 and 8 varied between laryngeal
            squamous carcinoma tissues and nonneoplastic tissues
REFERENCE   6  (bases 1 to 1457)
  AUTHORS   Heiskala M, Peterson PA and Yang Y.
  TITLE     The roles of claudin superfamily proteins in paracellular transport
  JOURNAL   Traffic 2 (2), 93-98 (2001)
   PUBMED   11247307
  REMARK    Review article
REFERENCE   7  (bases 1 to 1457)
  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   8  (bases 1 to 1457)
  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   9  (bases 1 to 1457)
  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   10 (bases 1 to 1457)
  AUTHORS   Peacock RE, Keen TJ and Inglehearn CF.
  TITLE     Analysis of a human gene homologous to rat ventral prostate.1
            protein
  JOURNAL   Genomics 46 (3), 443-449 (1997)
   PUBMED   9441748
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CV575841.1, AC003688.1 and
            BC071844.1.
            On Aug 14, 2020 this sequence version replaced NM_001185023.1.
            
            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. Differential expression of this gene has been
            observed in different types of malignancies, including breast
            cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors,
            prostate cancer, lung cancer, head and neck cancers, thyroid
            carcinomas, etc.. Alternatively spliced transcript variants
            encoding different isoforms have been found.[provided by RefSeq,
            May 2010].
            
            Transcript Variant: This variant (3) lacks an exon in the 3' CDS,
            as compared to variant 1. The resulting isoform (2) has a shorter
            and distinct C-terminus, as compared to 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.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 CV575841.1         468-468
            2-658               AC003688.1         64217-64873         c
            659-823             AC003688.1         63217-63381         c
            824-1450            AC003688.1         62306-62932         c
            1451-1457           BC071844.1         1341-1347
FEATURES             Location/Qualifiers
     source          1..1457
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..1457
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="claudin 7"
                     /db_xref="GeneID:1366"
                     /db_xref="HGNC:HGNC:2049"
                     /db_xref="MIM:609131"
     exon            1..658
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    391..393
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="upstream in-frame stop codon"
     CDS             436..873
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 3; clostridium perfringens enterotoxin
                     receptor-like 2; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="claudin-7 isoform 2 precursor"
                     /protein_id="NP_001171952.1"
                     /db_xref="CCDS:CCDS54081.1"
                     /db_xref="GeneID:1366"
                     /db_xref="HGNC:HGNC:2049"
                     /db_xref="MIM:609131"
                     /translation="

MANSGLQLLGFSMALLGWVGLVACTAIPQWQMSSYAGDNIITAQAMYKGLWMDCVTQSTGMMSCKMYDSVLALSAALQATRALMVVSLVLGFLAMFVATMGMKCTRCGGDDKVKKARIAMGGGIIFIVAGMSLALPSLLAGQGLP"

     sig_peptide     436..507
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    445..>831
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl21598"
                     /db_xref="CDD:389833"
     misc_feature    457..519
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="propagated from UniProtKB/Swiss-Prot (O95471.4);
                     transmembrane region"
     misc_feature    679..741
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="propagated from UniProtKB/Swiss-Prot (O95471.4);
                     transmembrane region"
     exon            659..823
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="alignment:Splign:2.1.0"
     exon            824..1457
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1200..1205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="hexamer: AATAAA"
     polyA_site      1221
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="major polyA site"
     regulatory      1429..1434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="hexamer: AATAAA"
     polyA_site      1457
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="major polyA site"
ORIGIN      

gcccgcacctgctggctcacctccgagccacctctgctgcgcaccgcagcctcggacctacagcccaggatactttgggacttgccggcgctcagaaacgcgcccagacggcccctccaccttttgtttgcctagggtcgccgagagcgcccggagggaaccgcctggccttcggggaccaccaattttgtctggaaccaccctcccggcgtatcctactccctgtgccgcgaggccatcgcttcactggaggggtcgatttgtgtgtagtttggtgacaagatttgcattcacctggcccaaaccctttttgtctctttgggtgaccggaaaactccacctcaagttttcttttgtggggctgccccccaagtgtcgtttgttttactgtagggtctccccgcccggcgcccccagtgttttctgagggcggaaatggccaattcgggcctgcagttgctgggcttctccatggccctgctgggctgggtgggtctggtggcctgcaccgccatcccgcagtggcagatgagctcctatgcgggtgacaacatcatcacggcccaggccatgtacaaggggctgtggatggactgcgtcacgcagagcacggggatgatgagctgcaaaatgtacgactcggtgctcgccctgtccgcggccttgcaggccactcgagccctaatggtggtctccctggtgctgggcttcctggccatgtttgtggccacgatgggcatgaagtgcacgcgctgtgggggagacgacaaagtgaagaaggcccgtatagccatgggtggaggcataattttcatcgtggcaggtatgagtttggccctgccatctttattggctgggcagggtctgccctagtcatcctgggaggtgcactgctctcctgttcctgtcctgggaatgagagcaaggctgggtaccgtgtaccccgctcttaccctaagtccaactcttccaaggagtatgtgtgacctgggatctccttgccccagcctgacaggctatgggagtgtctagatgcctgaaagggcctggggctgagctcagcctgtgggcagggtgccggacaaaggcctcctggtcactctgtccctgcactccatgtatagtcctcttgggttgggggtgggggggtgccgttggtgggagagacaaaaagagggagagtgtgctttttgtacagtaataaaaaataagtattgggaagcaggcttttttcccttcagggcctctgctttcctcccgtccagatccttgcagggagcttggaaccttagtgcacctacttcagttcagaacacttagcaccccactgactccactgacaattgactaaaagatgcaggtgctcgtatctcgacattcattcccacccccctcttatttaaatagctaccaaagtacttcttttttaataaaaaaataaagatttttattaggta

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