LOCUS       NM_006984               2466 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.
ACCESSION   NM_006984
VERSION     NM_006984.5
KEYWORDS    RefSeq; MANE Select.
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 2466)
  AUTHORS   Obtel,N., Le Cabec,A., Nguyen,T.N., Giabicani,E., Van
            Malderen,S.J.M., Garrevoet,J., Percot,A., Paris,C., Dean,C.,
            Hadj-Rabia,S., Houillier,P., Breiderhoff,T., Bardet,C., Coradin,T.,
            Ramirez Rozzi,F. and Chaussain,C.
  TITLE     Impact of claudin-10 deficiency on amelogenesis: Lesson from a
            HELIX tooth
  JOURNAL   Ann N Y Acad Sci 1516 (1), 197-211 (2022)
   PUBMED   35902997
  REMARK    GeneRIF: Impact of claudin-10 deficiency on amelogenesis: Lesson
            from a HELIX tooth.
REFERENCE   2  (bases 1 to 2466)
  AUTHORS   Hempel,C., Rosenthal,R., Fromm,A., Krug,S.M., Fromm,M., Gunzel,D.
            and Piontek,J.
  TITLE     Tight junction channels claudin-10b and claudin-15: Functional
            mapping of pore-lining residues
  JOURNAL   Ann N Y Acad Sci 1515 (1), 129-142 (2022)
   PUBMED   35650657
REFERENCE   3  (bases 1 to 2466)
  AUTHORS   Gonschior,H., Schmied,C., Van der Veen,R.E., Eichhorst,J.,
            Himmerkus,N., Piontek,J., Gunzel,D., Bleich,M., Furuse,M.,
            Haucke,V. and Lehmann,M.
  TITLE     Nanoscale segregation of channel and barrier claudins enables
            paracellular ion flux
  JOURNAL   Nat Commun 13 (1), 4985 (2022)
   PUBMED   36008380
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2466)
  AUTHORS   Yang,W., Zhang,K., Zhang,Z., Zhou,J., Li,L., Xu,Y., Qiu,J., Cai,L.,
            Gong,Y. and Gong,K.
  TITLE     Claudin-10 overexpression suppresses human clear cell renal cell
            carcinoma growth and metastasis by regulating ATP5O and causing
            mitochondrial dysfunction
  JOURNAL   Int J Biol Sci 18 (6), 2329-2344 (2022)
   PUBMED   35414767
  REMARK    GeneRIF: Claudin-10 overexpression suppresses human clear cell
            renal cell carcinoma growth and metastasis by regulating ATP5O and
            causing mitochondrial dysfunction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2466)
  AUTHORS   Alzahrani,A.S., Hussein,M., Alswailem,M., Mouna,A., Albalawi,L.,
            Moria,Y., Jabbar,M.A., Shi,Y., Gunzel,D. and Dasouki,M.
  TITLE     A novel claudin-10 mutation with a unique mechanism in two
            unrelated families with HELIX syndrome
  JOURNAL   Kidney Int 100 (2), 415-429 (2021)
   PUBMED   33675844
  REMARK    GeneRIF: A novel claudin-10 mutation with a unique mechanism in two
            unrelated families with HELIX syndrome.
REFERENCE   6  (bases 1 to 2466)
  AUTHORS   Christian,S.L., McDonough,J., Liu Cy,C.Y., Shaikh,S., Vlamakis,V.,
            Badner,J.A., Chakravarti,A. and Gershon,E.S.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   7  (bases 1 to 2466)
  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   8  (bases 1 to 2466)
  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   9  (bases 1 to 2466)
  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   10 (bases 1 to 2466)
  AUTHORS   Kubota,K., Furuse,M., Sasaki,H., Sonoda,N., Fujita,K., Nagafuchi,A.
            and Tsukita,S.
  TITLE     Ca(2+)-independent cell-adhesion activity of claudins, a family of
            integral membrane proteins localized at tight junctions
  JOURNAL   Curr Biol 9 (18), 1035-1038 (1999)
   PUBMED   10508613
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA133712.1, BC010920.1,
            AK055855.1, BG697724.1, DB544708.1 and AL139376.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006984.4.
            
            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 expression level of this gene is
            associated with recurrence of primary hepatocellular carcinoma. Six
            alternatively spliced transcript variants encoding different
            isoforms have been reported, but the transcript sequences of some
            variants are not determined.[provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (b) differs in the 5' UTR and 5'
            coding region, representing use of an alternate promoter, compared
            to variant a. The resulting isoform (b) has a longer and distinct
            N-terminus, compared to isoform a.
            
            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 :: SRR1660807.201999.1,
                                           SRR1803611.1993.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299339.3/ ENSP00000299339.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DA133712.1         28-32
            6-949               BC010920.1         5-948
            950-1683            AK055855.1         1140-1873
            1684-1684           BG697724.1         197-197
            1685-2156           AK055855.1         1875-2346
            2157-2157           BG697724.1         669-669
            2158-2359           AK055855.1         2348-2549
            2360-2463           DB544708.1         335-438
            2464-2466           AL139376.17        87033-87035
FEATURES             Location/Qualifiers
     source          1..2466
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     gene            1..2466
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /note="claudin 10"
                     /db_xref="GeneID:9071"
                     /db_xref="HGNC:HGNC:2033"
                     /db_xref="MIM:617579"
     exon            1..254
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..721
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /note="isoform b is encoded by transcript variant b;
                     OSP-like protein; oligodendrocyte-specific protein-like"
                     /codon_start=1
                     /product="claudin-10 isoform b"
                     /protein_id="NP_008915.1"
                     /db_xref="CCDS:CCDS9476.1"
                     /db_xref="GeneID:9071"
                     /db_xref="HGNC:HGNC:2033"
                     /db_xref="MIM:617579"
                     /translation="MASTASEIIAFMVSISGWVLVSSTLPTDYWKVSTIDGTVITTAT
                     YWANLWKACVTDSTGVSNCKDFPSMLALDGYIQACRGLMIAAVSLGFFGSIFALFGMK
                     CTKVGGSDKAKAKIACLAGIVFILSGLCSMTGCSLYANKITTEFFDPLFVEQKYELGA
                     ALFIGWAGASLCIIGGVIFCFSISDNNKTPRYTYNGATSVMSSRTKYHGGEDFKTTNP
                     SKQFDKNAYV"
     exon            255..416
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /inference="alignment:Splign:2.1.0"
     exon            417..498
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /inference="alignment:Splign:2.1.0"
     exon            499..606
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /inference="alignment:Splign:2.1.0"
     exon            607..2466
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      924..929
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /note="hexamer: AATAAA"
     polyA_site      945
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /note="major polyA site"
     regulatory      2443..2448
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
                     /note="hexamer: AATAAA"
     polyA_site      2466
                     /gene="CLDN10"
                     /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL"
ORIGIN      
        1 gagccggaga gcgagcgcgg ctgcagccgg cggcatggct agcacggctt cggagatcat
       61 cgccttcatg gtctccatct caggctgggt actggtgtcc tccacgctgc ccaccgacta
      121 ctggaaggtg tctaccatcg acggcacggt catcacaacc gccacctatt gggccaacct
      181 gtggaaggcg tgcgttaccg actccacggg cgtctccaac tgcaaggact tcccctccat
      241 gctggcgctg gacggttata tacaggcatg tagaggactt atgatcgctg ctgtcagcct
      301 gggcttcttt ggttccatat ttgcgctctt tggaatgaag tgtaccaaag tcggaggctc
      361 cgataaagcc aaagctaaaa ttgcttgttt ggctgggatt gtattcatac tgtcagggct
      421 gtgctcaatg actggatgtt ccctatatgc aaacaaaatc acaacggaat tctttgatcc
      481 tctctttgtt gagcaaaagt atgaattagg agccgctctg tttattggat gggcaggagc
      541 ctcactgtgc ataattggtg gtgtcatatt ttgcttttca atatctgaca acaacaaaac
      601 acccagatac acatacaacg gggccacatc tgtcatgtct tctcggacaa agtatcatgg
      661 tggagaagat tttaaaacaa caaacccttc aaaacagttt gataaaaatg cttatgtcta
      721 aaagagctcg ctggcaagct gcctcttgag tttgttataa aagcgaactg ttcacaaaat
      781 gatcccatca aggccctccc ataattaaca ctcaaaacta tttttaaaat atgcatttga
      841 agcatctgtt gattgtatgg atgtaagtgt tcttacatag ttagttatat actaatcatt
      901 ttctgttgtg gctttctata aaaaataaac agtttattta caggatttgt aaaatgtttt
      961 ctacatttat atagaacatg aaaagcattt agtaccaaag gttcaagaag tattcgtact
     1021 ctagcctttt taatcattca tagatagaag tctttgtacc cactccttat gtttcttttc
     1081 attcataaac aggtgtataa ggaacaatgt cttataaaca gcatgggggc aatctgagaa
     1141 tattcctcaa aaggtgtcca ggttaaatag acatgttact ggctgcacac aggcaaattc
     1201 tagtttgttt tttttaagta ttctacaaca tttatttaaa aaggtaaatc tttttgttga
     1261 agcagcaagt tatctggtag aacttaactt ctacaggatc agagaggatc ttgctcattc
     1321 atggccatat ccacatgccc atggccactc agtagattgt tgaaaaagca aagccacacc
     1381 attctctttg atgtatgcag agagttacgt agcaggggat gttctctgat ttattccact
     1441 ggcaccatta gtgaatattt agttgttttc ataaacgatg ctgtgatgaa gactcatgta
     1501 catatttagc aaattttggt ttcttacatg tgcctgtcat gactgtaatt cattatgact
     1561 gctccaggaa gggctaatgg ggccaatata ttattgcctg tcatgtggca catccatgtt
     1621 aaggggctga ggcgtccctg gcacggaatg cagagccctg agctagggca tcagcagaag
     1681 ctgagataga gatattggtc atggttgact gaggagccaa ttaaaacctg tttatgccta
     1741 gtgttccatt attggaacac taagcatgtg ggagttattt atatcctact gctcaaggtc
     1801 atcgccaagg tgtgattgga aaaattcaaa aaattgcaac ctcaggcata aatgggttaa
     1861 ggacatccca agcccaagtg gtacgtgcct cactcagaac tgacgggccg agttctatct
     1921 aggtgtgtct tccagaacct gtttacggct aactggataa ctgagagact tgtcatttct
     1981 aaagacattt aagttgctcc agggatttct gaaaaaagac acaggcttct tcctagagcc
     2041 agccctatat aacatgccca caagggcaac agttatcaca gttcatacac acctttcatg
     2101 tcctgtctca ctcactcctc acagccatcc taggagatac atattgtttt catcctgcat
     2161 ttacagaaaa agaaatgaaa acagagagct taaataattt gccacagtaa tgtcgaaact
     2221 aggcctttga accaaggcag tctagggtaa aatatagttt caaagtatga ataagaattg
     2281 gtatttgtgt tatctttgag taagaaactg tccgatatga atcacaacgt gggtgaatgt
     2341 agtattttcc tgaagtgtga aagacttaaa aaaaagaatc acattgttca gaggtgctca
     2401 atggaaagaa aaggaaatga acaagtttgt taaaagataa aaaataaaaa aaattccata
     2461 ccttga
//
