LOCUS       NM_198999               2719 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens solute carrier family 26 member 5 (SLC26A5),
            transcript variant a, mRNA.
ACCESSION   NM_198999 XM_351742
VERSION     NM_198999.3
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 2719)
  AUTHORS   Takahashi,S., Zhou,Y., Cheatham,M.A. and Homma,K.
  TITLE     The pathogenic roles of the p.R130S prestin variant in DFNB61
            hearing loss
  JOURNAL   J Physiol 602 (6), 1199-1210 (2024)
   PUBMED   38431907
  REMARK    GeneRIF: The pathogenic roles of the p.R130S prestin variant in
            DFNB61 hearing loss.
REFERENCE   2  (bases 1 to 2719)
  AUTHORS   Baskadem Yilmazer,A., Tanrisever,O., Alagoz,M.H., Yilmazer,R.,
            Goker,A.E., Tutar,B. and Uyar,Y.
  TITLE     Evaluation of inner ear damage by mastoid drilling with measurement
            of serum prestin (SLC26A5) levels
  JOURNAL   Braz J Otorhinolaryngol 90 (2), 101380 (2024)
   PUBMED   38237483
  REMARK    GeneRIF: Evaluation of inner ear damage by mastoid drilling with
            measurement of serum prestin (SLC26A5) levels.
REFERENCE   3  (bases 1 to 2719)
  AUTHORS   Takahashi,S., Kojima,T., Wasano,K. and Homma,K.
  TITLE     Functional Studies of Deafness-Associated Pendrin and Prestin
            Variants
  JOURNAL   Int J Mol Sci 25 (5), 2759 (2024)
   PUBMED   38474007
  REMARK    GeneRIF: Functional Studies of Deafness-Associated Pendrin and
            Prestin Variants.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2719)
  AUTHORS   Parker,A., Parham,K. and Skoe,E.
  TITLE     Noise exposure levels predict blood levels of the inner ear protein
            prestin
  JOURNAL   Sci Rep 12 (1), 1154 (2022)
   PUBMED   35064195
  REMARK    GeneRIF: Noise exposure levels predict blood levels of the inner
            ear protein prestin.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2719)
  AUTHORS   Liu,X.Z., Ouyang,X.M., Xia,X.J., Zheng,J., Pandya,A., Li,F.,
            Du,L.L., Welch,K.O., Petit,C., Smith,R.J., Webb,B.T., Yan,D.,
            Arnos,K.S., Corey,D., Dallos,P., Nance,W.E. and Chen,Z.Y.
  TITLE     Prestin, a cochlear motor protein, is defective in non-syndromic
            hearing loss
  JOURNAL   Hum Mol Genet 12 (10), 1155-1162 (2003)
   PUBMED   12719379
  REMARK    GeneRIF: an essential function of prestin in human auditory
            processing
REFERENCE   6  (bases 1 to 2719)
  AUTHORS   Markovich,D.
  TITLE     Physiological roles and regulation of mammalian sulfate
            transporters
  JOURNAL   Physiol Rev 81 (4), 1499-1533 (2001)
   PUBMED   11581495
  REMARK    Review article
REFERENCE   7  (bases 1 to 2719)
  AUTHORS   Oliver,D., He,D.Z., Klocker,N., Ludwig,J., Schulte,U.,
            Waldegger,S., Ruppersberg,J.P., Dallos,P. and Fakler,B.
  TITLE     Intracellular anions as the voltage sensor of prestin, the outer
            hair cell motor protein
  JOURNAL   Science 292 (5525), 2340-2343 (2001)
   PUBMED   11423665
REFERENCE   8  (bases 1 to 2719)
  AUTHORS   Lohi,H., Kujala,M., Kerkela,E., Saarialho-Kere,U., Kestila,M. and
            Kere,J.
  TITLE     Mapping of five new putative anion transporter genes in human and
            characterization of SLC26A6, a candidate gene for pancreatic anion
            exchanger
  JOURNAL   Genomics 70 (1), 102-112 (2000)
   PUBMED   11087667
REFERENCE   9  (bases 1 to 2719)
  AUTHORS   Zheng,J., Shen,W., He,D.Z., Long,K.B., Madison,L.D. and Dallos,P.
  TITLE     Prestin is the motor protein of cochlear outer hair cells
  JOURNAL   Nature 405 (6783), 149-155 (2000)
   PUBMED   10821263
REFERENCE   10 (bases 1 to 2719)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005064.3, DA197655.1 and
            AF523354.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_198999.2.
            
            Summary: This gene encodes a member of the SLC26A/SulP transporter
            family. The protein functions as a molecular motor in motile outer
            hair cells (OHCs) of the cochlea, inducing changes in cell length
            that act to amplify sound levels. The transmembrane protein is an
            incomplete anion transporter, and does not allow anions to cross
            the cell membrane but instead undergoes a conformational change in
            response to changes in intracellular Cl- levels that results in a
            change in cell length. The protein functions at microsecond rates,
            which is several orders of magnitude faster than conventional
            molecular motor proteins. Mutations in this gene are potential
            candidates for causing neurosensory deafness. Multiple transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (a), also known as SLC26A5a,
            represents the longest transcript and encodes the longest 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 :: AF523354.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306312.8/ ENSP00000304783.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AC005064.3         44254-44283         c
            31-56               DA197655.1         1-26
            57-2719             AF523354.1         1-2663
FEATURES             Location/Qualifiers
     source          1..2719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2719
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /note="solute carrier family 26 member 5"
                     /db_xref="GeneID:375611"
                     /db_xref="HGNC:HGNC:9359"
                     /db_xref="MIM:604943"
     exon            1..110
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            111..239
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            240..444
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     CDS             293..2527
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /note="isoform a is encoded by transcript variant a;
                     prestin (motor protein); solute carrier family 26 (anion
                     exchanger), member 5"
                     /codon_start=1
                     /product="prestin isoform a"
                     /protein_id="NP_945350.1"
                     /db_xref="CCDS:CCDS5733.1"
                     /db_xref="GeneID:375611"
                     /db_xref="HGNC:HGNC:9359"
                     /db_xref="MIM:604943"
                     /translation="MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIAD
                     KLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFA
                     MLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
                     GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAA
                     VHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGK
                     EFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGTLPLGLLPPANPDTS
                     LFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFS
                     ISCSLSRSLVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKG
                     MFMQFSDLPFFWRTSKIELTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSY
                     KVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKTGVNPAV
                     IMGARRKAMRKYAKEVGNANMANATVVKADAEVDGEDATKPEEEDGEVKYPPIVIKST
                     FPEEMQRFMPPGDNVHTVILDFTQVNFIDSVGVKTLAGIVKEYGDVGIYVYLAGCSAQ
                     VVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALAEQEASAPPSQEDLEPNATPA
                     TPEA"
     exon            445..584
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            585..695
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            696..862
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1027
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1180
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1263
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1411
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1525
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1526..1603
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1699
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1806
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1807..1876
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1877..1969
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            1970..2077
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            2078..2278
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            2279..2333
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
     exon            2334..2719
                     /gene="SLC26A5"
                     /gene_synonym="DFNB61; PRES"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 actgcccgcg gcgcctcctc ctagagccgc acctggaggc agcgcgcgcg tcgaagaggc
       61 agcggctgtg gagcgcggcg gggcggctcc gcccagggca gcccgggctg ggccaaggag
      121 cgagctctcc cttctcctgc tctcagcctc agtgatcaag gcttcagtga actgcactgg
      181 agctcccagc gggggatctt gtcccctgtc ccgacttttg tgctgcacat tggatctggt
      241 gacactcagg aaatgcttgt ctccggctgt taaggaataa tttcagagta ctatggatca
      301 tgctgaagaa aatgaaatcc ttgcagcaac ccagaggtac tatgtggaaa ggcctatctt
      361 tagtcatccg gtcctccagg aaagactaca cacaaaggac aaggttcctg attccattgc
      421 ggataagctg aaacaggcat tcacatgtac tcctaaaaaa ataagaaata tcatttatat
      481 gttcctaccc ataactaaat ggctgccagc atacaaattc aaggaatatg tgttgggtga
      541 cttggtctca ggcataagca caggggtgct tcagcttcct caaggcttag cctttgcaat
      601 gctggcagct gtgcctccaa tatttggcct gtactcttca ttttaccctg ttatcatgta
      661 ttgttttctt ggaacctcca gacacatatc cataggtcct tttgctgtta ttagcctgat
      721 gattggtggt gtagctgttc gattagtacc agatgatata gtcattccag gaggagtaaa
      781 tgcaaccaat ggcacagagg ccagagatgc cttgagagtg aaagtcgcca tgtctgtgac
      841 cttactttca ggaatcattc agttttgcct aggtgtctgt aggtttggat ttgtggccat
      901 atatctcaca gagcctctgg tccgtgggtt taccaccgca gcagctgtgc atgtcttcac
      961 ctccatgtta aaatatctgt ttggagttaa aacaaagcgg tacagtggaa tcttttccgt
     1021 ggtgtatagt acagttgctg tgttgcagaa tgttaaaaac ctcaacgtgt gttccctagg
     1081 cgtcgggctg atggtttttg gtttgctgtt gggtggcaag gagtttaatg agagatttaa
     1141 agagaaattg ccggcgccta ttcctttaga gttctttgcg gtcgtaatgg gaactggcat
     1201 ttcagctggg tttaacttga aagaatcata caatgtggat gtcgttggaa cacttcctct
     1261 agggctgcta cctccagcca atccggacac cagcctcttc caccttgtgt acgtagatgc
     1321 cattgccata gccatcgttg gattttcagt gaccatctcc atggccaaga ccttagcaaa
     1381 taaacatggc taccaggttg acggcaatca ggagctcatt gccctgggac tgtgcaattc
     1441 cattggctca ctcttccaga ccttttcaat ttcatgctcc ttgtctcgaa gccttgttca
     1501 ggagggaacc ggtgggaaga cacagcttgc aggttgtttg gcctcattaa tgattctgct
     1561 ggtcatatta gcaactggat tcctctttga atcattgccc caggctgtgc tgtcggccat
     1621 tgtgattgtc aacctgaagg gaatgtttat gcagttctca gatctcccct ttttctggag
     1681 aaccagcaaa atagagctga ccatctggct taccactttt gtgtcctcct tgttcctggg
     1741 attggactat ggtttgatca ctgctgtgat cattgctctg ctgactgtga tttacagaac
     1801 acagagtcca agctacaaag tccttggaaa gcttcctgaa actgatgtgt atattgatat
     1861 agacgcatat gaggaggtga aagaaattcc tggaataaaa atatttcaaa taaatgcacc
     1921 aatttactat gcaaatagcg acttgtatag caatgcatta aaacgaaaga ctggagtgaa
     1981 cccagcagtc atcatgggag caaggagaaa ggccatgcgg aagtacgcta aggaagtcgg
     2041 aaatgcaaat atggccaacg caactgttgt caaagcagat gcagaagtag atggagagga
     2101 tgctaccaag cctgaagaag aggatggtga agtaaaatat cccccaatag tgatcaaaag
     2161 cacatttcct gaggaaatgc aaagatttat gcccccaggg gataacgtcc acactgtcat
     2221 tttggatttc actcaagtca attttattga ttctgttgga gtgaaaactc tggcagggat
     2281 tgtaaaagaa tatggagacg tcggtatata tgtatactta gcaggatgca gtgcacaagt
     2341 tgtgaatgac ctcactcgga atagattttt tgaaaatcct gccctatggg agctgctgtt
     2401 ccacagcatt catgatgcag ttttaggcag ccaacttaga gaggcacttg ctgaacagga
     2461 agcctcggct cccccttccc aggaggactt ggagcccaat gccactcctg ccactcctga
     2521 ggcatagatg aggacctcac cctaggatgg ggttataagc ctctcatgaa gttcataatt
     2581 tacacgtttt aaatactaga cgctagattt ttttttctaa gggtgaatac tagtagtcca
     2641 ggcttgattt ggagggtgaa tgacgcctag caagatgtat tgtacttgtg tttttttaat
     2701 tgaatacttc aaagataaa
//
