2024-03-29 08:36:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001185022 1462 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens claudin 7 (CLDN7), transcript variant 2, mRNA. ACCESSION NM_001185022 VERSION NM_001185022.1 GI:297206810 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 1462) 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 1462) 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 1462) 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 1462) 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 1462) 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 1462) 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 1462) 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 1462) 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 1462) 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 1462) 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 AJ011497.1 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 (2) has an alternate 5' UTR sequence, as compared to variant 1. Variants 1 and 2 encode the same 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 :: AJ011497.1, BI759545.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025090 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-301 AJ011497.1 1-301 302-1462 BC071844.1 207-1367 FEATURES Location/Qualifiers source 1..1462 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17" gene 1..1462 /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..35 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /inference="alignment:Splign:1.39.8" exon 36..558 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /inference="alignment:Splign:1.39.8" misc_feature 291..293 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /note="upstream in-frame stop codon" CDS 336..971 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /note="isoform 1 precursor is encoded by transcript variant 2; claudin-7; clostridium perfringens enterotoxin receptor-like 2" /codon_start=1 /product="claudin-7 isoform 1 precursor" /protein_id="NP_001171951.1" /db_xref="GI:297206811" /db_xref="CCDS:CCDS11096.1" /db_xref="GeneID:1366" /db_xref="HGNC:2049" /db_xref="MIM:609131" /translation="
MANSGLQLLGFSMALLGWVGLVACTAIPQWQMSSYAGDNIITAQAMYKGLWMDCVTQSTGMMSCKMYDSVLALSAALQATRALMVVSLVLGFLAMFVATMGMKCTRCGGDDKVKKARIAMGGGIIFIVAGLAALVACSWYGHQIVTDFYNPLIPTNIKYEFGPAIFIGWAGSALVILGGALLSCSCPGNESKAGYRVPRSYPKSNSSKEYV
" sig_peptide 336..407 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 345..881 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; pfam00822" /db_xref="CDD:109862" misc_feature 357..419 /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 579..641 /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 687..749 /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 816..878 /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 963..968 /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); Region: Interactions with TJP1, TJP2 and TJP3 (By similarity)" variation 396 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /replace="c" /replace="t" /db_xref="dbSNP:35178249" exon 559..723 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /inference="alignment:Splign:1.39.8" exon 724..808 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /inference="alignment:Splign:1.39.8" exon 809..1442 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /inference="alignment:Splign:1.39.8" STS 844..983 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /standard_name="G54057" /db_xref="UniSTS:109439" STS 1199..1326 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /standard_name="RH12882" /db_xref="UniSTS:56988" STS 1283..1409 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" /standard_name="WIAF-2127" /db_xref="UniSTS:3692" polyA_signal 1414..1419 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" polyA_signal 1422..1427 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" polyA_site 1442 /gene="CLDN7" /gene_synonym="CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359" ORIGIN
tccagttaggagccttgatgccggaggggacagtgggtcgccgagagcgcccggagggaaccgcctggccttcggggaccaccaattttgtctggaaccaccctcccggcgtatcctactccctgtgccgcgaggccatcgcttcactggaggggtcgatttgtgtgtagtttggtgacaagatttgcattcacctggcccaaaccctttttgtctctttgggtgaccggaaaactccacctcaagttttcttttgtggggctgccccccaagtgtcgtttgttttactgtagggtctccccgcccggcgcccccagtgttttctgagggcggaaatggccaattcgggcctgcagttgctgggcttctccatggccctgctgggctgggtgggtctggtggcctgcaccgccatcccgcagtggcagatgagctcctatgcgggtgacaacatcatcacggcccaggccatgtacaaggggctgtggatggactgcgtcacgcagagcacggggatgatgagctgcaaaatgtacgactcggtgctcgccctgtccgcggccttgcaggccactcgagccctaatggtggtctccctggtgctgggcttcctggccatgtttgtggccacgatgggcatgaagtgcacgcgctgtgggggagacgacaaagtgaagaaggcccgtatagccatgggtggaggcataattttcatcgtggcaggtcttgccgccttggtagcttgctcctggtatggccatcagattgtcacagacttttataaccctttgatccctaccaacattaagtatgagtttggccctgccatctttattggctgggcagggtctgccctagtcatcctgggaggtgcactgctctcctgttcctgtcctgggaatgagagcaaggctgggtaccgtgtaccccgctcttaccctaagtccaactcttccaaggagtatgtgtgacctgggatctccttgccccagcctgacaggctatgggagtgtctagatgcctgaaagggcctggggctgagctcagcctgtgggcagggtgccggacaaaggcctcctggtcactctgtccctgcactccatgtatagtcctcttgggttgggggtgggggggtgccgttggtgggagagacaaaaagagggagagtgtgctttttgtacagtaataaaaaataagtattgggaagcaggcttttttcccttcagggcctctgctttcctcccgtccagatccttgcagggagcttggaaccttagtgcacctacttcagttcagaacacttagcaccccactgactccactgacaattgactaaaagatgcaggtgctcgtatctcgacattcattcccacccccctcttatttaaatagctaccaaagtacttcttttttaataaaaaaataaagatttttattaggtaaaaaaaaaaaaaaaaaaaaa
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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
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