2025-05-12 01:49:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001185056 2431 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens claudin 11 (CLDN11), transcript variant 2, mRNA. ACCESSION NM_001185056 VERSION NM_001185056.1 GI:297374749 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 2431) AUTHORS Chiba,K., Yamaguchi,K., Ando,M., Miyake,H. and Fujisawa,M. TITLE Expression pattern of testicular claudin-11 in infertile men JOURNAL Urology 80 (5), 1161 (2012) PUBMED 22951003 REMARK GeneRIF: disorganization of claudin-11 expression in Sertoli cells might be one of the factors involved in the impairment of spermatogenesis. REFERENCE 2 (bases 1 to 2431) AUTHORS Katsushima,K., Shinjo,K., Natsume,A., Ohka,F., Fujii,M., Osada,H., Sekido,Y. and Kondo,Y. TITLE Contribution of microRNA-1275 to Claudin11 protein suppression via a polycomb-mediated silencing mechanism in human glioma stem-like cells JOURNAL J. Biol. Chem. 287 (33), 27396-27406 (2012) PUBMED 22736761 REMARK GeneRIF: Treatment with 3-deazaneplanocin A, an inhibitor of H3K27 methyltransferase, attenuated CLDN11 induction by serum stimulation in parallel with sustained miR-1275 expression REFERENCE 3 (bases 1 to 2431) AUTHORS Kote-Jarai,Z., Olama,A.A., Giles,G.G., Severi,G., Schleutker,J., Weischer,M., Campa,D., Riboli,E., Key,T., Gronberg,H., Hunter,D.J., Kraft,P., Thun,M.J., Ingles,S., Chanock,S., Albanes,D., Hayes,R.B., Neal,D.E., Hamdy,F.C., Donovan,J.L., Pharoah,P., Schumacher,F., Henderson,B.E., Stanford,J.L., Ostrander,E.A., Sorensen,K.D., Dork,T., Andriole,G., Dickinson,J.L., Cybulski,C., Lubinski,J., Spurdle,A., Clements,J.A., Chambers,S., Aitken,J., Gardiner,R.A., Thibodeau,S.N., Schaid,D., John,E.M., Maier,C., Vogel,W., Cooney,K.A., Park,J.Y., Cannon-Albright,L., Brenner,H., Habuchi,T., Zhang,H.W., Lu,Y.J., Kaneva,R., Muir,K., Benlloch,S., Leongamornlert,D.A., Saunders,E.J., Tymrakiewicz,M., Mahmud,N., Guy,M., O'Brien,L.T., Wilkinson,R.A., Hall,A.L., Sawyer,E.J., Dadaev,T., Morrison,J., Dearnaley,D.P., Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N., Woodhouse,C.J., Thompson,A., Christmas,T., Ogden,C., Cooper,C.S., Lophatonanon,A., Southey,M.C., Hopper,J.L., English,D.R., Wahlfors,T., Tammela,T.L., Klarskov,P., Nordestgaard,B.G., Roder,M.A., Tybjaerg-Hansen,A., Bojesen,S.E., Travis,R., Canzian,F., Kaaks,R., Wiklund,F., Aly,M., Lindstrom,S., Diver,W.R., Gapstur,S., Stern,M.C., Corral,R., Virtamo,J., Cox,A., Haiman,C.A., Le Marchand,L., Fitzgerald,L., Kolb,S., Kwon,E.M., Karyadi,D.M., Orntoft,T.F., Borre,M., Meyer,A., Serth,J., Yeager,M., Berndt,S.I., Marthick,J.R., Patterson,B., Wokolorczyk,D., Batra,J., Lose,F., McDonnell,S.K., Joshi,A.D., Shahabi,A., Rinckleb,A.E., Ray,A., Sellers,T.A., Lin,H.Y., Stephenson,R.A., Farnham,J., Muller,H., Rothenbacher,D., Tsuchiya,N., Narita,S., Cao,G.W., Slavov,C., Mitev,V., Easton,D.F. and Eeles,R.A. CONSRTM UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology; UK ProtecT Study Collaborators, The Australian Prostate Cancer BioResource; PRACTICAL Consortium TITLE Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study JOURNAL Nat. Genet. 43 (8), 785-791 (2011) PUBMED 21743467 REMARK Publication Status: Online-Only REFERENCE 4 (bases 1 to 2431) AUTHORS Awsare,N.S., Martin,T.A., Haynes,M.D., Matthews,P.N. and Jiang,W.G. TITLE Claudin-11 decreases the invasiveness of bladder cancer cells JOURNAL Oncol. Rep. 25 (6), 1503-1509 (2011) PUBMED 21468549 REMARK GeneRIF: claudin-11 may have a role in preventing cancer progression and may serve as a therapeutic target in reducing metastasis REFERENCE 5 (bases 1 to 2431) AUTHORS Nah,W.H., Lee,J.E., Park,H.J., Park,N.C. and Gye,M.C. TITLE Claudin-11 expression increased in spermatogenic defect in human testes JOURNAL Fertil. Steril. 95 (1), 385-388 (2011) PUBMED 20850723 REMARK GeneRIF: late spermatogenic wave may negatively regulate claudin-11 gene activation and the subcellular localization of claudin-11 in Sertoli cells, thus altering the blood testis barrier in the human testis REFERENCE 6 (bases 1 to 2431) 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 2431) 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 (bases 1 to 2431) 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 (bases 1 to 2431) 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 (bases 1 to 2431) 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 DA258090.1 and AC008041.5. 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 (2) has an alternate 5' exon, resulting in a downstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: DA258090.1, BX397382.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-496 DA258090.1 1-496 497-2431 AC008041.5 17075-19009 FEATURES Location/Qualifiers source 1..2431 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q26.2-q26.3" gene 1..2431 /gene="CLDN11" /gene_synonym="OSP; OTM" /note="claudin 11" /db_xref="GeneID:5010" /db_xref="HGNC:8514" /db_xref="MIM:601326" exon 1..98 /gene="CLDN11" /gene_synonym="OSP; OTM" /inference="alignment:Splign:1.39.8" variation 31 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="g" /db_xref="dbSNP:73163838" variation 49 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:143055849" misc_feature 83..85 /gene="CLDN11" /gene_synonym="OSP; OTM" /note="upstream in-frame stop codon" exon 99..263 /gene="CLDN11" /gene_synonym="OSP; OTM" /inference="alignment:Splign:1.39.8" variation 103 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:367974397" variation 120 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:148297542" CDS 125..496 /gene="CLDN11" /gene_synonym="OSP; OTM" /note="isoform 2 precursor is encoded by transcript variant 2; oligodendrocyte transmembrane protein; claudin-11; oligodendrocyte-specific protein" /codon_start=1 /product="claudin-11 isoform 2 precursor" /protein_id="NP_001171985.1" /db_xref="GI:297374750" /db_xref="GeneID:5010" /db_xref="HGNC:8514" /db_xref="MIM:601326" /translation="
MIAASVLGLPAILLLLTVLPCIRMGQEPGVAKYRRAQLAGVLLILLALCALVATIWFPVCAHRETTIVSFGYSLYAGWIGAVLCLVGGCVILCCAGDAQAFGENRFYYTAGSSSPTHAKSAHV
" sig_peptide 125..199 /gene="CLDN11" /gene_synonym="OSP; OTM" /inference="COORDINATES: ab initio prediction:SignalP:4.0" variation 154 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="g" /replace="t" /db_xref="dbSNP:141421186" variation 208 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:150789369" variation 260 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:371649486" exon 264..2431 /gene="CLDN11" /gene_synonym="OSP; OTM" /inference="alignment:Splign:1.39.8" variation 271 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:138100932" variation 272 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:143763226" variation 294..295 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="" /replace="a" /db_xref="dbSNP:34124448" variation 312 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:146493095" variation 326 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:377105856" variation 385 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:375051671" variation 454 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:369096350" variation 458 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:372554090" variation 467 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="c" /db_xref="dbSNP:144303681" variation 477 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:375624085" variation 478 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:140975891" variation 490 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:200665065" variation 507 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:369963006" variation 508 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:374008151" variation 520 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="t" /db_xref="dbSNP:373002112" variation 586 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="g" /db_xref="dbSNP:192477349" variation 637..638 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="" /replace="ttt" /db_xref="dbSNP:10620799" variation 730 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="g" /replace="t" /db_xref="dbSNP:60306951" variation 764 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:6770844" variation 848 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="g" /replace="t" /db_xref="dbSNP:369372951" variation 863 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="c" /db_xref="dbSNP:374137538" variation 871 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="" /replace="t" /replace="ttt" /db_xref="dbSNP:11322219" variation 1117 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:144763446" variation 1176 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:75747180" variation 1273 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:71306669" variation 1286 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:146584959" variation 1302 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="g" /db_xref="dbSNP:77614151" variation 1410 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:116573207" variation 1434 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:114923460" variation 1460 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="t" /db_xref="dbSNP:184479005" variation 1500 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="c" /db_xref="dbSNP:76935838" variation 1626 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="g" /replace="t" /db_xref="dbSNP:141295233" variation 1643 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:13973" STS 1694..1821 /gene="CLDN11" /gene_synonym="OSP; OTM" /standard_name="SHGC-77525" /db_xref="UniSTS:21761" variation 1697 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:143257986" variation 1727 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:79247818" polyA_signal 1814..1819 /gene="CLDN11" /gene_synonym="OSP; OTM" variation 1826 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:188703062" polyA_site 1839 /gene="CLDN11" /gene_synonym="OSP; OTM" variation 1893 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="" /replace="t" /db_xref="dbSNP:199859109" variation 1995 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:192810780" variation 1996 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:74578076" variation 1997 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:184973915" variation 2010 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:189444465" variation 2083 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:77575392" variation 2088 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:141576986" variation 2139 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="a" /replace="g" /db_xref="dbSNP:191573902" variation 2160 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="g" /db_xref="dbSNP:150475064" variation 2324 /gene="CLDN11" /gene_synonym="OSP; OTM" /replace="c" /replace="t" /db_xref="dbSNP:138487700" ORIGIN
atcttttggtgtccggacatggccttggcactgtagcatgtggacagccagtgccatggatttcagaacctgcattgccagttgactgcctgctttgtgctacgtgcaggcctgccgcgccctgatgattgctgcctcggtcctgggtctgccggccattttactgctgctgactgttcttccctgcatccggatgggccaggagcccggtgtggctaagtacaggcgggcccagctggctggtgttttgctcattctgctggctctctgcgcccttgttgccaccatctggttccctgtgtgcgcccaccgtgagaccaccatcgtgagctttggctactccctgtatgcaggctggattggtgctgtgctgtgcctcgtgggtggctgtgtcatcctctgctgcgctggagatgcccaggcctttggtgaaaaccgtttctactacactgcgggctctagctccccgactcatgcgaagagtgcccacgtataagagggctgcccggctgcccacagaggtgctgtagatgctgggcccagggccctaggtttgctcgtcacagtgtggggaagcccattcctctgccaggctctaaagccaaaggtctagaaaagcatcctgtctggcattttgtagtcttaacttctccccatttcccccatcttttggttgccttaaaagaaatctctagctcagataatgcccagacatttttttcccttggtgttgcccctattagctcttttcttgggcattcttttgctgtttattaaaaatatattatatatattttgtttctttaaatttcaaatgttttgcaaacatcactgagttaggtgggggtggggaagagaaatacaagatacttttttttttttttttttttttttttttttaaatagggcctcactctgttgctcaggctggagtgcggtggtgtgatctcggctcatgtagcctcaacctccccggctcaagtgatcctcctgcctcagcctcccaagtagctgggactacaggcgttcactactacacccagctaatttttaagttttttatagagatgagggctccctatgttgcccaggttggtctcgaactcctggactcaaagtatcctcccgcctcggcctcccaaagtgttgggattataggagtgagccaccacaccggccaagatgcttttcaaactgatacagatgacaatgggagcctcataaagatggcttttgtttcttcccttcaaggtcatttacttgtacgagacagaaaaagatagcattggggacatgggatgggggagggagggcaatagtggaacgaactttccatgggaaactttcccttttgtaagttgagggccaggggtagggatattttttagtttgtgattttacatttatctgtacatactttttcaagattgatcatttttataaccatggttttcctgaaatcctcaattcatcaatatgaaggaaatgaaccacatagactttatgcaataaataacagtgcaagtgagtataactctaactgatgttccacaaaacatttttgatttcaggtttgtatgatgtagtttttaatcgtacattttcatatgcttcaaactaacacatttttaaagctttcccccacttttctctctatttgtattgttagccatcttgaagtgatgttgtttaacataaattgtactgttgaatttggctttacgggtgtaaacactgatggtatatcagtatctgagaccccaaactctccaaatactgatggtgcattttattcttgaagtgaaatctgtgcaataaaataacagactgtctgcaaaactggccttcaatcttctgttgtatccagaggtatcattattgatttaaaaaaatctcattaatctctactggtaatttatagggaatctgatcagtgattcaagaacaagtaattctgcattgccttgaataattaaaaagttatattttattcacggtattgcagtggtaatttgtggtcatgaaagcataacctcagtgctctctaggtttcttaagtggggtgactttatggcatctttaatcatcgatcaatgggcagcaatcagaaacaaagttctcagcattatgcagttaatgtccttcatctacttctaacacttagtaaaggaattgattggctaggtataaaaagagaattaacgaaacctattttattggatctttaagtaataatatctaaatacatttcgttcaaacatacatatgtagctgtttggacattttggacaaagacacattgagttgatttttatttgtttttctgttccagaaacttcatcaagttacgggcctggtctaagaaaacacattgcaatctattttggcagacttctttcaaataaaatactaatttcattagctgatagta
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5010 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA GeneID:5010 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS GeneID:5010 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA GeneID:5010 -> Biological process: GO:0008366 [axon ensheathment] evidence: IEA GeneID:5010 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS GeneID:5010 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:5010 -> Cellular component: GO:0005923 [tight junction] evidence: ISS GeneID:5010 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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