LOCUS       NM_080458               2716 bp    mRNA    linear   ROD 06-OCT-2024
DEFINITION  Mus musculus barttin CLCNK type accessory beta subunit (Bsnd),
            mRNA.
ACCESSION   NM_080458
VERSION     NM_080458.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2716)
  AUTHORS   Lin,M.H., Chen,J.C., Tian,X., Lee,C.M., Yu,I.S., Lo,Y.F.,
            Uchida,S., Huang,C.L., Chen,B.C. and Cheng,C.J.
  TITLE     Impairment in renal medulla development underlies salt wasting in
            Clc-k2 channel deficiency
  JOURNAL   JCI Insight 6 (20), e151039 (2021)
   PUBMED   34499620
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2716)
  AUTHORS   Ramsbottom,S.A., Thelwall,P.E., Wood,K.M., Clowry,G.J.,
            Devlin,L.A., Silbermann,F., Spiewak,H.L., Shril,S., Molinari,E.,
            Hildebrandt,F., Gunay-Aygun,M., Saunier,S., Cordell,H.J.,
            Sayer,J.A. and Miles,C.G.
  TITLE     Mouse genetics reveals Barttin as a genetic modifier of Joubert
            syndrome
  JOURNAL   Proc Natl Acad Sci U S A 117 (2), 1113-1118 (2020)
   PUBMED   31879347
  REMARK    GeneRIF: Mouse genetics reveals Barttin as a genetic modifier of
            Joubert syndrome.
REFERENCE   3  (bases 1 to 2716)
  AUTHORS   Matsuura,Y., Nomura,N., Shoda,W., Mori,T., Isobe,K., Susa,K.,
            Ando,F., Sohara,E., Rai,T. and Uchida,S.
  TITLE     Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome
            model mice through activation of sodium-potassium-2 chloride
            cotransporter and sodium-chloride cotransporter
  JOURNAL   Biochem Biophys Res Commun 517 (2), 364-368 (2019)
   PUBMED   31362893
REFERENCE   4  (bases 1 to 2716)
  AUTHORS   Nomura,N., Shoda,W., Wang,Y., Mandai,S., Furusho,T., Takahashi,D.,
            Zeniya,M., Sohara,E., Rai,T. and Uchida,S.
  TITLE     Role of ClC-K and barttin in low potassium-induced sodium chloride
            cotransporter activation and hypertension in mouse kidney
  JOURNAL   Biosci Rep 38 (1) (2018)
   PUBMED   29326302
  REMARK    GeneRIF: our study provides in vivo evidence that, in response to a
            low-potassium diet, ClC-K and barttin play important roles in the
            activation of the WNK4-SPAK-NCC cascade and blood pressure
            regulation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2716)
  AUTHORS   Rohacek,A.M., Bebee,T.W., Tilton,R.K., Radens,C.M.,
            McDermott-Roe,C., Peart,N., Kaur,M., Zaykaner,M., Cieply,B.,
            Musunuru,K., Barash,Y., Germiller,J.A., Krantz,I.D., Carstens,R.P.
            and Epstein,D.J.
  TITLE     ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative
            Splicing that Disrupt Cochlear Development
  JOURNAL   Dev Cell 43 (3), 318-331 (2017)
   PUBMED   29107558
REFERENCE   6  (bases 1 to 2716)
  AUTHORS   Bergler,T., Stoelcker,B., Jeblick,R., Reinhold,S.W., Wolf,K.,
            Riegger,G.A. and Kramer,B.K.
  TITLE     High osmolality induces the kidney-specific chloride channel CLC-K1
            by a serum and glucocorticoid-inducible kinase 1 MAPK pathway
  JOURNAL   Kidney Int 74 (9), 1170-1177 (2008)
   PUBMED   18614997
  REMARK    GeneRIF: induction of SGK1, CLC-K1 and barttin by high osmolarity
            and change in intracellular volume in distal renal tubular cells in
            vivo and in vitro
REFERENCE   7  (bases 1 to 2716)
  AUTHORS   Mugford,J.W., Sipila,P., Kobayashi,A., Behringer,R.R. and
            McMahon,A.P.
  TITLE     Hoxd11 specifies a program of metanephric kidney development within
            the intermediate mesoderm of the mouse embryo
  JOURNAL   Dev Biol 319 (2), 396-405 (2008)
   PUBMED   18485340
REFERENCE   8  (bases 1 to 2716)
  AUTHORS   Trowe,M.O., Maier,H., Schweizer,M. and Kispert,A.
  TITLE     Deafness in mice lacking the T-box transcription factor Tbx18 in
            otic fibrocytes
  JOURNAL   Development 135 (9), 1725-1734 (2008)
   PUBMED   18353863
REFERENCE   9  (bases 1 to 2716)
  AUTHORS   Estevez,R., Boettger,T., Stein,V., Birkenhager,R., Otto,E.,
            Hildebrandt,F. and Jentsch,T.J.
  TITLE     Barttin is a Cl- channel beta-subunit crucial for renal Cl-
            reabsorption and inner ear K+ secretion
  JOURNAL   Nature 414 (6863), 558-561 (2001)
   PUBMED   11734858
REFERENCE   10 (bases 1 to 2716)
  AUTHORS   Birkenhager,R., Otto,E., Schurmann,M.J., Vollmer,M., Ruf,E.M.,
            Maier-Lutz,I., Beekmann,F., Fekete,A., Omran,H., Feldmann,D.,
            Milford,D.V., Jeck,N., Konrad,M., Landau,D., Knoers,N.V.,
            Antignac,C., Sudbrak,R., Kispert,A. and Hildebrandt,F.
  TITLE     Mutation of BSND causes Bartter syndrome with sensorineural
            deafness and kidney failure
  JOURNAL   Nat Genet 29 (3), 310-314 (2001)
   PUBMED   11687798
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK052587.1 and AL954352.10.
            
            On Apr 8, 2006 this sequence version replaced NM_080458.1.
            
            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 :: BC038287.1, AK052587.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849385 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2710              AK052587.1         2-2711
            2711-2716           AL954352.10        101222-101227       c
FEATURES             Location/Qualifiers
     source          1..2716
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 49.67 cM"
     gene            1..2716
                     /gene="Bsnd"
                     /note="barttin CLCNK type accessory beta subunit"
                     /db_xref="GeneID:140475"
                     /db_xref="MGI:MGI:2153465"
     exon            1..379
                     /gene="Bsnd"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..1126
                     /gene="Bsnd"
                     /note="Bartter syndrome, infantile, with sensorineural
                     deafness (Barttin)"
                     /codon_start=1
                     /product="barttin"
                     /protein_id="NP_536706.2"
                     /db_xref="CCDS:CCDS18419.1"
                     /db_xref="GeneID:140475"
                     /db_xref="MGI:MGI:2153465"
                     /translation="MADEKTFRIGFIVLGLFLLSLGTFLMSHDRPQVYGTFYAMGSVM
                     VIGGVIWSMCQCYPKITFVPADSDFQGILSPKALSLLETGLSEVKSPQPPYVRLWEEA
                     AYDQSLPDFTHIQMKVMGYSEDPRPLLAPELKTGASSVREGEPRTAQAWMEAPVVVHR
                     GSDENEGEKSHSQSSPSVGPQGSAPLASFHDDLDVGSSEGSSLQPSPNRDEPHRQVPW
                     ASRGPLDRFSDFALIDDTPTSEDTVLDGQAREAALPRKQQWSLRMKGETVQARAEEPE
                     QEEEDLYYGLPDSPGNPLPDKELGFEPDIQG"
     exon            380..471
                     /gene="Bsnd"
                     /inference="alignment:Splign:2.1.0"
     exon            472..726
                     /gene="Bsnd"
                     /inference="alignment:Splign:2.1.0"
     exon            727..2716
                     /gene="Bsnd"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2691..2696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bsnd"
                     /note="hexamer: AATAAA"
     polyA_site      2716
                     /gene="Bsnd"
                     /note="major polyA site"
ORIGIN      
        1 gaagcgtgtc acctgccctg ctgggctcag ggctgagagc tgggcctgtg gagtttgctc
       61 cttgctctgt gcatcatcac cttggttctc agccatctcc tggagcatcc ttccttgaga
      121 gcctgctcag cgtttgagga ggattgcggg cagtcccctg ctggtgtgct gatcagctag
      181 ctaccagggc tggttagcca ccatggctga tgagaagacc ttccgaatcg gcttcatcgt
      241 gctgggcctc ttcctgctat ccctgggtac attccttatg agccacgatc gaccccaggt
      301 ctacggcacc ttctatgcca tgggcagcgt catggtgatc gggggtgtca tctggagcat
      361 gtgccaatgc tatcctaaga tcacctttgt gccagcagac tctgacttcc aaggcatctt
      421 gtccccaaag gccctgagcc tgctggagac cgggctttcg gaggtaaaga gcccccagcc
      481 cccctacgtc aggctgtggg aagaagccgc ctatgaccag agcctcccag acttcactca
      541 catccaaatg aaggtcatgg gctacagtga ggaccccagg ccactgctgg cccccgagct
      601 gaagacagga gccagcagtg tcagggaagg cgagcctcgt actgctcagg cctggatgga
      661 ggctccggtg gtcgtccata gagggtcaga tgagaacgag ggagagaaat cccattctca
      721 gagcagccct tcagtgggtc cccaaggctc tgcacccttg gcctcattcc atgacgacct
      781 ggacgtgggc tccagcgaag gcagcagcct gcaaccatcc cccaacaggg atgagccaca
      841 ccggcaggtg ccctgggcca gcaggggtcc actggatcgc ttcagtgact ttgctctgat
      901 tgacgacacc cctacatctg aggacacggt cctggacggg caggcacggg aggcagcgct
      961 acccagaaag cagcaatggt ccctgaggat gaagggggag actgtccagg cacgcgcaga
     1021 agaaccggag caggaggagg aagatctgta ctacgggctg ccagacagcc ctgggaaccc
     1081 cctacccgac aaagagttgg gcttcgagcc tgacatccag ggctgagatg aaactgcctc
     1141 ctgtgtctag cctgacagca ctgctgtctt catgtgaccc ctcaagggct cagttttcca
     1201 agtcccaaac aggattgtat ggaggaccaa gtgaggcagt gaactgaagc atcttgggaa
     1261 ctgaaaggaa cacacatggg gggcagcaat cctcccccct gcgagccaca tgcgtctggt
     1321 tgtagcttgt tctgctgacc tgcagggaca gtggggtttt ctgaggtcct gtgtgacagc
     1381 cagaccccca gaagcccttc tccatctcct aatgctagct tctgattggg cctcctgtgg
     1441 tgctacccag ggcctctgag aaccccatgt ccactgtgtt ttggtcctct gatgggtgtt
     1501 ggactcacgc acccctctca gagccgatgc tgtctcctgg ctcagtgtct ttagcagttt
     1561 ctctgctctg ggatctatga ctctctgtgg ctgacttctg ctgagctgag ctgacctctg
     1621 gatattactc tagtccctcc tgttcatgcc cctagcccat gcctataccc ttgcttgagc
     1681 tgtgttcttc cagggcccct tgtgctgagt gaactcccac ccattcctat acacccacca
     1741 aagtgacctt tctcctgcta gttttcctgg catcccaacc cctagatgag aatttccctc
     1801 tggggcttgt gtgtccattt ctctggctgg tgcttgccac tgcccaggga cagcatcttg
     1861 acttcattca ccagagttcc caggagacct ttggcgtatg cagatctcag cagatcttgg
     1921 aacctttgca gatagggtca ccctccccag ttttgacaag tatggactct tagtctctgg
     1981 cacccacttt tcaaaatggc ttctagacag tcataaaaac caggcgaaaa gctaccagaa
     2041 gagaacccaa caacaactca caaagcacac ttgcattggt ttggaatgga caaaatccag
     2101 ctgctgaagt aattccactt ggtgcccttg gcacttactg agcatctgct atgtgccagg
     2161 ctcagcttgg aaaacagtca ttggtccctg accctgtaaa gggctcatgg tctgagctgg
     2221 ctgtcttgta agctgggaac acagcatgga aggtggatgg gagcagagtc actctcctgt
     2281 ctgcaggtct tgcagaaccc tctgttctca gcccagcatg gaaggagcca taaggagaaa
     2341 ggtgttgctg ctttctccag ccaggtctac acaacttaga cctgttctga gatgtctaag
     2401 agcagggcac tgggagaagg ttaggggtct cagccgaggg aaggagatgc ccaccggtgc
     2461 tcactgagaa cacaccacaa ccctccccat gtctggggca tttctacctc ttcagtgaag
     2521 acgcctccac caggcacctc ctctctgctg ataggtcaca gaccaggtgt ccctgctcct
     2581 gtctcagcca agggtgaggt gacatgtagc tgctgtctgt gtactgctgg cccaggcaag
     2641 gactgactgt gacccacatc agacagagca aagtcagcac caggggatga aataaaaaag
     2701 ttttttaact tcaaaa
//
