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2024-03-29 10:34:25, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001185023            1944 bp    mRNA    linear   PRI 16-JUN-2013
DEFINITION  Homo sapiens claudin 7 (CLDN7), transcript variant 3, mRNA.
ACCESSION   NM_001185023
VERSION     NM_001185023.1  GI:297206812
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 1944)
  AUTHORS   Liu,Y., Wang,L., Lin,X.Y., Wang,J., Yu,J.H., Miao,Y. and Wang,E.H.
  TITLE     Anti-apoptotic effect of claudin-1 on TNF-alpha-induced apoptosis
            in human breast cancer MCF-7 cells
  JOURNAL   Tumour Biol. 33 (6), 2307-2315 (2012)
   PUBMED   22941467
  REMARK    GeneRIF: Increased expression of claudin-1 contributes to an
            anti-apoptotic role in TNF-alpha-induced apoptosis.
REFERENCE   2  (bases 1 to 1944)
  AUTHORS   Brokalaki,E.I., Weber,F., Sotiropoulos,G.C., Daoudaki,M.,
            Cicinnati,V.R. and Beckebaum,S.
  TITLE     Claudin-7 expression in hepatocellular carcinoma
  JOURNAL   Transplant. Proc. 44 (9), 2737-2740 (2012)
   PUBMED   23146509
  REMARK    GeneRIF: Survival analysis showed a trend toward a better prognosis
            among patients with overexpression of claudin-7 in hepatocellular
            carcinoma.
REFERENCE   3  (bases 1 to 1944)
  AUTHORS   Bernardi,M.A., Logullo,A.F., Pasini,F.S., Nonogaki,S., Blumke,C.,
            Soares,F.A. and Brentani,M.M.
  TITLE     Prognostic significance of CD24 and claudin-7 immunoexpression in
            ductal invasive breast cancer
  JOURNAL   Oncol. Rep. 27 (1), 28-38 (2012)
   PUBMED   21956537
  REMARK    GeneRIF: CD24+ (P=0.07) and claudin-7 positivity (P=0.05) were
            associated with reduced time of recurrence, suggesting a
            contribution of these markers to aggressiveness of breast cancer.
REFERENCE   4  (bases 1 to 1944)
  AUTHORS   Li,R., Zhang,D., Cai,C. and Dong,J.
  TITLE     [The clinical significance of Claudin-7 and slug expression in lung
            squamous cell carcinoma and adenocarcinoma]
  JOURNAL   Zhongguo Fei Ai Za Zhi 14 (6), 492-496 (2011)
   PUBMED   21645451
  REMARK    GeneRIF: down-regulation of Claudin-7 and overexpression of Slug in
            lung squamous cell carcinoma and adenocarcinoma
REFERENCE   5  (bases 1 to 1944)
  AUTHORS   Dahiya,N., Becker,K.G., Wood,W.H. III, Zhang,Y. and Morin,P.J.
  TITLE     Claudin-7 is frequently overexpressed in ovarian cancer and
            promotes invasion
  JOURNAL   PLoS ONE 6 (7), E22119 (2011)
   PUBMED   21789222
  REMARK    GeneRIF: Claudin-7 is significantly upregulated in epithelial
            ovarian cancer.
REFERENCE   6  (bases 1 to 1944)
  AUTHORS   Heiskala,M., Peterson,P.A. 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 1944)
  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 1944)
  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 1944)
  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 1944)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CV575841.1, AC003688.1 and
            BC071844.1.
            
            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
            1-468               CV575841.1         1-468
            469-1125            AC003688.1         64217-64873         c
            1126-1290           AC003688.1         63217-63381         c
            1291-1917           AC003688.1         62306-62932         c
            1918-1944           BC071844.1         1341-1367
FEATURES             Location/Qualifiers
     source          1..1944
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17"
     gene            1..1944
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="claudin 7"
                     /db_xref="GeneID:1366"
                     /db_xref="HGNC:2049"
                     /db_xref="MIM:609131"
     exon            1..1125
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    858..860
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="upstream in-frame stop codon"
     CDS             903..1340
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 3; claudin-7; clostridium perfringens enterotoxin
                     receptor-like 2"
                     /codon_start=1
                     /product="claudin-7 isoform 2 precursor"
                     /protein_id="NP_001171952.1"
                     /db_xref="GI:297206813"
                     /db_xref="CCDS:CCDS54081.1"
                     /db_xref="GeneID:1366"
                     /db_xref="HGNC:2049"
                     /db_xref="MIM:609131"
                     /translation="
MANSGLQLLGFSMALLGWVGLVACTAIPQWQMSSYAGDNIITAQAMYKGLWMDCVTQSTGMMSCKMYDSVLALSAALQATRALMVVSLVLGFLAMFVATMGMKCTRCGGDDKVKKARIAMGGGIIFIVAGMSLALPSLLAGQGLP
"
     sig_peptide     903..974
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    912..>1298
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl15797"
                     /db_xref="CDD:210197"
     misc_feature    924..986
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95471.4);
                     transmembrane region"
     misc_feature    1146..1208
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95471.4);
                     transmembrane region"
     variation       963
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35178249"
     exon            1126..1290
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="alignment:Splign:1.39.8"
     exon            1291..1924
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /inference="alignment:Splign:1.39.8"
     STS             1326..1465
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /standard_name="G54057"
                     /db_xref="UniSTS:109439"
     STS             1681..1808
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /standard_name="RH12882"
                     /db_xref="UniSTS:56988"
     STS             1765..1891
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
                     /standard_name="WIAF-2127"
                     /db_xref="UniSTS:3692"
     polyA_signal    1896..1901
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
     polyA_signal    1904..1909
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
     polyA_site      1924
                     /gene="CLDN7"
                     /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2;
                     Hs.84359"
ORIGIN      
ggaaaaaaaaggagagcagcgggtgggggcgaaagcagggccgaggagagagcactttggacagaacccggcggggaaagggcggcgccgaggcttgtcaggggcgccccgcagcgtcccaggcgcacctgttgggaagaaaggaaggggcttcccggtgttcgagggaaatccagtccggaggggctgactcggagcttgggactcctggggagccaccgcctcctccccagcggcggtcaaaaccgggcaagcgaaggggcgtgaccctggtgctcaggtttcttcctcctcacctgggcaaggaggggtgggggccacgacttccggttcaggtgagtgtcccttcggtgacgtcaggtcatcctcggccgcccctccggtcccgcctccccctcccgcgctcccggggcgcgcgggccgcgcccccgacgccctacatatactcaggtgcgccccacctgtccgcccgcacctgctggctcacctccgagccacctctgctgcgcaccgcagcctcggacctacagcccaggatactttgggacttgccggcgctcagaaacgcgcccagacggcccctccaccttttgtttgcctagggtcgccgagagcgcccggagggaaccgcctggccttcggggaccaccaattttgtctggaaccaccctcccggcgtatcctactccctgtgccgcgaggccatcgcttcactggaggggtcgatttgtgtgtagtttggtgacaagatttgcattcacctggcccaaaccctttttgtctctttgggtgaccggaaaactccacctcaagttttcttttgtggggctgccccccaagtgtcgtttgttttactgtagggtctccccgcccggcgcccccagtgttttctgagggcggaaatggccaattcgggcctgcagttgctgggcttctccatggccctgctgggctgggtgggtctggtggcctgcaccgccatcccgcagtggcagatgagctcctatgcgggtgacaacatcatcacggcccaggccatgtacaaggggctgtggatggactgcgtcacgcagagcacggggatgatgagctgcaaaatgtacgactcggtgctcgccctgtccgcggccttgcaggccactcgagccctaatggtggtctccctggtgctgggcttcctggccatgtttgtggccacgatgggcatgaagtgcacgcgctgtgggggagacgacaaagtgaagaaggcccgtatagccatgggtggaggcataattttcatcgtggcaggtatgagtttggccctgccatctttattggctgggcagggtctgccctagtcatcctgggaggtgcactgctctcctgttcctgtcctgggaatgagagcaaggctgggtaccgtgtaccccgctcttaccctaagtccaactcttccaaggagtatgtgtgacctgggatctccttgccccagcctgacaggctatgggagtgtctagatgcctgaaagggcctggggctgagctcagcctgtgggcagggtgccggacaaaggcctcctggtcactctgtccctgcactccatgtatagtcctcttgggttgggggtgggggggtgccgttggtgggagagacaaaaagagggagagtgtgctttttgtacagtaataaaaaataagtattgggaagcaggcttttttcccttcagggcctctgctttcctcccgtccagatccttgcagggagcttggaaccttagtgcacctacttcagttcagaacacttagcaccccactgactccactgacaattgactaaaagatgcaggtgctcgtatctcgacattcattcccacccccctcttatttaaatagctaccaaagtacttcttttttaataaaaaaataaagatttttattaggtaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1366 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
            GeneID:1366 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:1366 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS
            GeneID:1366 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS
            GeneID:1366 -> Cellular component: GO:0005923 [tight junction] evidence: ISS
            GeneID:1366 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
            GeneID:1366 -> Cellular component: GO:0016328 [lateral plasma membrane] evidence: IEA

by @meso_cacase at DBCLS
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