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2024-04-25 15:44:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_199328 2147 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens claudin 8 (CLDN8), mRNA. ACCESSION NM_199328 VERSION NM_199328.2 GI:297206863 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 2147) AUTHORS Shrestha,A. and McClane,B.A. TITLE Human claudin-8 and -14 are receptors capable of conveying the cytotoxic effects of Clostridium perfringens enterotoxin JOURNAL MBio 4 (1) (2013) PUBMED 23322640 REMARK GeneRIF: Human Cldn-8 and -14 were shown to convey Clostridium perfringens enterotoxin-mediated cytotoxicity at pathophysiologically relevant concentrations of this toxin, although ~2-to-10-fold less efficiently than Cldn-4. Publication Status: Online-Only REFERENCE 2 (bases 1 to 2147) AUTHORS Ouban,A. and Ahmed,A.A. TITLE Claudins in human cancer: a review JOURNAL Histol. Histopathol. 25 (1), 83-90 (2010) PUBMED 19924644 REMARK Review article REFERENCE 3 (bases 1 to 2147) AUTHORS Barber,M.J., Mangravite,L.M., Hyde,C.L., Chasman,D.I., Smith,J.D., McCarty,C.A., Li,X., Wilke,R.A., Rieder,M.J., Williams,P.T., Ridker,P.M., Chatterjee,A., Rotter,J.I., Nickerson,D.A., Stephens,M. and Krauss,R.M. TITLE Genome-wide association of lipid-lowering response to statins in combined study populations JOURNAL PLoS ONE 5 (3), E9763 (2010) PUBMED 20339536 REMARK Publication Status: Online-Only REFERENCE 4 (bases 1 to 2147) AUTHORS Kim,S.S., Choi,Y.D., Jin,X.M., Cho,Y.M., Jang,J.J., Juhng,S.W. and Choi,C. TITLE Immunohistochemical stain for cytokeratin 7, S100A1 and claudin 8 is valuable in differential diagnosis of chromophobe renal cell carcinoma from renal oncocytoma JOURNAL Histopathology 54 (5), 633-635 (2009) PUBMED 19302533 REMARK GeneRIF: the combination of CK7, S100A1 and claudin 8 immunohistochemistry can be useful for classifying tumours of overlapping histology as chromophobe renal cell carcinoma or renal oncocytomas. REFERENCE 5 (bases 1 to 2147) AUTHORS Lal-Nag,M. and Morin,P.J. TITLE The claudins JOURNAL Genome Biol. 10 (8), 235 (2009) PUBMED 19706201 REMARK Review article REFERENCE 6 (bases 1 to 2147) AUTHORS Tsukita,S., Furuse,M. and Itoh,M. TITLE Multifunctional strands in tight junctions JOURNAL Nat. Rev. Mol. Cell Biol. 2 (4), 285-293 (2001) PUBMED 11283726 REMARK Review article REFERENCE 7 (bases 1 to 2147) 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 8 (bases 1 to 2147) 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 9 (bases 1 to 2147) 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 10 (bases 1 to 2147) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA629490.1, AY358707.1, AL049977.1 and AW235670.1. On May 29, 2010 this sequence version replaced gi:40788010. 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. This protein plays important roles in the paracellular cation barrier of the distal renal tubule, and in the paracellular barrier to prevent sodium back-leakage in distal colon. Differential expression of this gene has been observed in colorectal carcinoma and renal cell tumors, and along with claudin-7, is an immunohistochemical marker for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma.[provided by RefSeq, May 2010]. 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 1-130 DA629490.1 1-130 131-1586 AY358707.1 1-1456 1587-2135 AL049977.1 522-1070 2136-2147 AW235670.1 1-12 c FEATURES Location/Qualifiers source 1..2147 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" gene 1..2147 /gene="CLDN8" /note="claudin 8" /db_xref="GeneID:9073" /db_xref="HGNC:2050" /db_xref="HPRD:10835" /db_xref="MIM:611231" exon 1..2146 /gene="CLDN8" /inference="alignment:Splign:1.39.8" variation 2 /gene="CLDN8" /replace="a" /replace="c" /db_xref="dbSNP:28364718" misc_feature 206..208 /gene="CLDN8" /note="upstream in-frame stop codon" CDS 227..904 /gene="CLDN8" /codon_start=1 /product="claudin-8" /protein_id="NP_955360.1" /db_xref="GI:40788011" /db_xref="CCDS:CCDS13587.1" /db_xref="GeneID:9073" /db_xref="HGNC:2050" /db_xref="HPRD:10835" /db_xref="MIM:611231" /translation="
MATHALEIAGLFLGGVGMVGTVAVTVMPQWRVSAFIENNIVVFENFWEGLWMNCVRQANIRMQCKIYDSLLALSPDLQAARGLMCAASVMSFLAFMMAILGMKCTRCTGDNEKVKAHILLTAGIIFIITGMVVLIPVSWVANAIIRDFYNSIVNVAQKRELGEALYLGWTTALVLIVGGALFCCVFCCNEKSSSYRYSIPSHRTTQKSYHTGKKSPSVYSRSQYV
"
misc_feature 248..310
/gene="CLDN8"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P56748.1);
transmembrane region"
misc_feature 311..772
/gene="CLDN8"
/note="PMP-22/EMP/MP20/Claudin family; Region:
PMP22_Claudin; cl15797"
/db_xref="CDD:210197"
misc_feature 470..532
/gene="CLDN8"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P56748.1);
transmembrane region"
misc_feature 578..640
/gene="CLDN8"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P56748.1);
transmembrane region"
misc_feature 725..787
/gene="CLDN8"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P56748.1);
transmembrane region"
misc_feature 896..901
/gene="CLDN8"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P56748.1);
Region: Interactions with TJP1, TJP2 and TJP3 (By
similarity)"
variation 611
/gene="CLDN8"
/replace="a"
/replace="g"
/db_xref="dbSNP:685967"
variation 677
/gene="CLDN8"
/replace="c"
/replace="t"
/db_xref="dbSNP:686364"
polyA_signal 2117..2122
/gene="CLDN8"
polyA_site 2146
/gene="CLDN8"
ORIGIN
gatttgtaagtttacctgttgcagccaatagcagggccatctcagccagccagcactggatactatctggccagaagtagcaaagcagctcttatttgaaaaaccactgggttccgagttcattactacaggaaaaactgttctcttctgtggcacagagaaccctgcttcaaagcagaagtagcagttccggagtccagctggctaaaactcatcccagaggataatggcaacccatgccttagaaatcgctgggctgtttcttggtggtgttggaatggtgggcacagtggctgtcactgtcatgcctcagtggagagtgtcggccttcattgaaaacaacatcgtggtttttgaaaacttctgggaaggactgtggatgaattgcgtgaggcaggctaacatcaggatgcagtgcaaaatctatgattccctgctggctctttctccggacctacaggcagccagaggactgatgtgtgctgcttccgtgatgtccttcttggctttcatgatggccatccttggcatgaaatgcaccaggtgcacgggggacaatgagaaggtgaaggctcacattctgctgacggctggaatcatcttcatcatcacgggcatggtggtgctcatccctgtgagctgggttgccaatgccatcatcagagatttctataactcaatagtgaatgttgcccaaaaacgtgagcttggagaagctctctacttaggatggaccacggcactggtgctgattgttggaggagctctgttctgctgcgttttttgttgcaacgaaaagagcagtagctacagatactcgataccttcccatcgcacaacccaaaaaagttatcacaccggaaagaagtcaccgagcgtctactccagaagtcagtatgtgtagttgtgtatgtttttttaactttactataaagccatgcaaatgacaaaaatctatattactttctcaaaatggaccccaaagaaactttgatttactgttcttaactgcctaatcttaattacaggaactgtgcatcagctatttatgattctataagctatttcagcagaatgagatattaaacccaatgctttgattgttctagaaagtatagtaatttgttttctaaggtggttcaagcatctactctttttatcatttacttcaaaatgacattgctaaagactgcattattttactactgtaatttctccacgacatagcattatgtacatagatgagtgtaacatttatatctcacatagagacatgcttatatggttttatttaaaatgaaatgccagtccattacactgaataaatagaactcaactattgcttttcagggaaatcatggatagggttgaagaaggttactattaattgtttaaaaacagcttagggattaatgtcctccatttataatgaagattaaaatgaaggctttaatcagcattgtaaaggaaattgaatggctttctgatatgctgttttttagcctaggagttagaaatcctaacttctttatcctcttctcccagaggctttttttttcttgtgtattaaattaacatttttaaaaagcagatattttgtcaaggggctttgcattcaaactgcttttccagggctatactcagaagaaagataaaagtgtgatctaagaaaaagtgatggttttaggaaagtgaaaatatttttgtttttgtatttgaagaagaatgatgcattttgacaagaaatcatatatgtatggatatattttaataagtatttgagtacagactttgaggtttcatcaatataaataaaagagcagaaaaatatgtcttggttttcatttgcttaccaaaaaaacaacaacaaaaaaagttgtcctttgagaacttcacctgctcctatgtgggtacctgagtcaaaattgtcatttttgttctgtgaaaaataaatttccttcttgtaccatttctgtttagttttactaaaatctgtaaatactgtatttttctgtttattccaaatttgatgaaactgacaatccaatttgaaagtttgtgtcgacgtctgtctagcttaaatgaatgtgttctatttgctttatacatttatattaataaattgtacatttttctaattatttgaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9073 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
GeneID:9073 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS
GeneID:9073 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS
GeneID:9073 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
GeneID:9073 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:9073 -> Cellular component: GO:0005923 [tight junction] evidence: ISS
GeneID:9073 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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