LOCUS       NM_052961               3437 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens solute carrier family 26 member 8 (SLC26A8),
            transcript variant 1, mRNA.
ACCESSION   NM_052961
VERSION     NM_052961.4
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 3437)
  AUTHORS   Liu,M., Li,J., Li,Y., Jiang,C., Xu,W., Yang,Y. and Shen,Y.
  TITLE     The heterozygous mutations of SLC26A8 are not the main actors for
            male infertility
  JOURNAL   Hum Mutat 43 (5), 604-612 (2022)
   PUBMED   35181959
  REMARK    GeneRIF: The heterozygous mutations of SLC26A8 are not the main
            actors for male infertility.
REFERENCE   2  (bases 1 to 3437)
  AUTHORS   Gao,Y., Wu,H., Xu,Y., Shen,Q., Xu,C., Geng,H., Lv,M., Tan,Q.,
            Li,K., Tang,D., Song,B., Zhou,P., Wei,Z., He,X. and Cao,Y.
  TITLE     Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia
            in humans owing to midpiece defects: Insights into a putative
            dominant genetic disease
  JOURNAL   Hum Mutat 43 (3), 434-443 (2022)
   PUBMED   34923715
  REMARK    GeneRIF: Novel biallelic mutations in SLC26A8 cause severe
            asthenozoospermia in humans owing to midpiece defects: Insights
            into a putative dominant genetic disease.
REFERENCE   3  (bases 1 to 3437)
  AUTHORS   Li,J., Xia,F. and Reithmeier,R.A.
  TITLE     N-glycosylation and topology of the human SLC26 family of anion
            transport membrane proteins
  JOURNAL   Am J Physiol Cell Physiol 306 (10), C943-C960 (2014)
   PUBMED   24647542
REFERENCE   4  (bases 1 to 3437)
  AUTHORS   Dirami,T., Rode,B., Jollivet,M., Da Silva,N., Escalier,D.,
            Gaitch,N., Norez,C., Tuffery,P., Wolf,J.P., Becq,F., Ray,P.F.,
            Dulioust,E., Gacon,G., Bienvenu,T. and Toure,A.
  TITLE     Missense mutations in SLC26A8, encoding a sperm-specific activator
            of CFTR, are associated with human asthenozoospermia
  JOURNAL   Am J Hum Genet 92 (5), 760-766 (2013)
   PUBMED   23582645
  REMARK    GeneRIF: Missense mutations in SLC26A8, encoding a sperm-specific
            activator of CFTR, are associated with human asthenozoospermia.
REFERENCE   5  (bases 1 to 3437)
  AUTHORS   Rode,B., Dirami,T., Bakouh,N., Rizk-Rabin,M., Norez,C.,
            Lhuillier,P., Lores,P., Jollivet,M., Melin,P., Zvetkova,I.,
            Bienvenu,T., Becq,F., Planelles,G., Edelman,A., Gacon,G. and
            Toure,A.
  TITLE     The testis anion transporter TAT1 (SLC26A8) physically and
            functionally interacts with the cystic fibrosis transmembrane
            conductance regulator channel: a potential role during sperm
            capacitation
  JOURNAL   Hum Mol Genet 21 (6), 1287-1298 (2012)
   PUBMED   22121115
REFERENCE   6  (bases 1 to 3437)
  AUTHORS   Makela,S., Eklund,R., Lahdetie,J., Mikkola,M., Hovatta,O. and
            Kere,J.
  TITLE     Mutational analysis of the human SLC26A8 gene: exclusion as a
            candidate for male infertility due to primary spermatogenic failure
  JOURNAL   Mol Hum Reprod 11 (2), 129-132 (2005)
   PUBMED   15579655
  REMARK    GeneRIF: SLC26A8 mutations are not a common cause of male
            infertility.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3437)
  AUTHORS   Lohi,H., Kujala,M., Makela,S., Lehtonen,E., Kestila,M.,
            Saarialho-Kere,U., Markovich,D. and Kere,J.
  TITLE     Functional characterization of three novel tissue-specific anion
            exchangers SLC26A7, -A8, and -A9
  JOURNAL   J Biol Chem 277 (16), 14246-14254 (2002)
   PUBMED   11834742
REFERENCE   8  (bases 1 to 3437)
  AUTHORS   Vincourt,J.B., Jullien,D., Kossida,S., Amalric,F. and Girard,J.P.
  TITLE     Molecular cloning of SLC26A7, a novel member of the SLC26
            sulfate/anion transporter family, from high endothelial venules and
            kidney
  JOURNAL   Genomics 79 (2), 249-256 (2002)
   PUBMED   11829495
REFERENCE   9  (bases 1 to 3437)
  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   10 (bases 1 to 3437)
  AUTHORS   Toure,A., Morin,L., Pineau,C., Becq,F., Dorseuil,O. and Gacon,G.
  TITLE     Tat1, a novel sulfate transporter specifically expressed in human
            male germ cells and potentially linked to rhogtpase signaling
  JOURNAL   J Biol Chem 276 (23), 20309-20315 (2001)
   PUBMED   11278976
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z95152.1, AF331522.1 and
            AL133507.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_052961.3.
            
            Summary: This gene encodes a member of the SLC26 gene family of
            anion transporters. Family members are well conserved in gene
            structure and protein length yet have markedly different tissue
            expression patterns. The expression of this gene appears to be
            restricted to spermatocytes. Alternatively spliced transcript
            variants that encode different isoforms have been described.
            [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1 and 3
            encode the same protein.
            
            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 :: AF331522.1, SRR1803613.233440.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000490799.6/ ENSP00000417638.1
            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
            1-61                Z95152.1           141585-141645
            62-3433             AF331522.1         1-3372
            3434-3437           AL133507.8         4240-4243           c
FEATURES             Location/Qualifiers
     source          1..3437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..3437
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /note="solute carrier family 26 member 8"
                     /db_xref="GeneID:116369"
                     /db_xref="HGNC:HGNC:14468"
                     /db_xref="MIM:608480"
     exon            1..138
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            139..328
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..3053
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /note="isoform a is encoded by transcript variant 1; anion
                     transporter/exchanger-8; testis anion transporter 1;
                     solute carrier family 26 (anion exchanger), member 8"
                     /codon_start=1
                     /product="testis anion transporter 1 isoform a"
                     /protein_id="NP_443193.1"
                     /db_xref="CCDS:CCDS4813.1"
                     /db_xref="GeneID:116369"
                     /db_xref="HGNC:HGNC:14468"
                     /db_xref="MIM:608480"
                     /translation="MAQLERSAISGFSSKSRRNSFAYDVKREVYNEETFQQEHKRKAS
                     SSGNMNINITTFRHHVQCRCSWHRFLRCVLTIFPFLEWMCMYRLKDWLLGDLLAGISV
                     GLVQVPQGLTLSLLARQLIPPLNIAYAAFCSSVIYVIFGSCHQMSIGSFFLVSALLIN
                     VLKVSPFNNGQLVMGSFVKNEFSAPSYLMGYNKSLSVVATTTFLTGIIQLIMGVLGLG
                     FIATYLPESAMSAYLAAVALHIMLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKA
                     NSTSILVFLTVVVALRINKCIRISFNQYPIEFPMELFLIIGFTVIANKISMATETSQT
                     LIDMIPYSFLLPVTPDFSLLPKIILQAFSLSLVSSFLLIFLGKKIASLHNYSVNSNQD
                     LIAIGLCNVVSSFFRSCVFTGAIARTIIQDKSGGRQQFASLVGAGVMLLLMVKMGHFF
                     YTLPNAVLAGIILSNVIPYLETISNLPSLWRQDQYDCALWMMTFSSSIFLGLDIGLII
                     SVVSAFFITTVRSHRAKILLLGQIPNTNIYRSINDYREIITIPGVKIFQCCSSITFVN
                     VYYLKHKLLKEVDMVKVPLKEEEIFSLFNSSDTNLQGGKICRCFCNCDDLEPLPRILY
                     TERFENKLDPEASSINLIHCSHFESMNTSQTASEDQVPYTVSSVSQKNQGQQYEEVEE
                     VWLPNNSSRNSSPGLPDVAESQGRRSLIPYSDASLLPSVHTIILDFSMVHYVDSRGLV
                     VLRQICNAFQNANILILIAGCHSSIVRAFERNDFFDAGITKTQLFLSVHDAVLFALSR
                     KVIGSSELSIDESETVIRETYSETDKNDNSRYKMSSSFLGSQKNVSPGFIKIQQPVEE
                     ESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEMEPQPETEPEMEPNP
                     KSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSYSPEGNSNEDV"
     exon            329..468
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            469..585
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            586..767
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            768..932
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1082
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1165
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1313
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1427
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1505
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1506..1601
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1602..1708
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1709..1778
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1871
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..2003
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2004..2372
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2373..2427
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2428..2612
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2613..3437
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3415..3420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /note="hexamer: AATAAA"
     polyA_site      3437
                     /gene="SLC26A8"
                     /gene_synonym="AZON; SPGF3; TAT1"
                     /note="major polyA site"
ORIGIN      
        1 agcccgcccg gaacgcccgc gggctaggcc acaacggctc gggaaccgcc gccggtatcc
       61 gcgtccgcag cgccgccagc caggcgagag ccgtgtggga tcccagcgcc cgcactcccg
      121 cccccgccaa ggagccagga atggcacaac tagagaggag cgccatctct ggcttcagct
      181 ctaagtccag gcgaaactca ttcgcatatg atgttaagcg tgaagtatac aatgaggaga
      241 cctttcaaca ggaacacaaa aggaaggcct cctcttctgg gaacatgaac atcaacatca
      301 ccaccttcag acaccacgtc cagtgccgct gctcatggca caggttccta cgatgcgtgc
      361 ttacaatctt tcccttccta gaatggatgt gtatgtatcg attaaaggat tggcttctgg
      421 gagacttact tgctggtata agtgttggcc ttgtgcaagt tccccaaggc ctgacactta
      481 gtttgctggc aaggcaactg attcctcctc tcaacatcgc ttatgcagct ttctgttctt
      541 cggtaatcta tgtaattttt ggatcgtgtc atcaaatgtc cattggttcc ttcttcctgg
      601 tgagtgctct gctgatcaac gttctgaaag tgagcccatt caacaacggt caactggtca
      661 tgggatcttt cgtcaagaat gagttttcgg ccccctccta ccttatgggc tataataaat
      721 ccttgagtgt ggtggcaacc acaacttttc tgactgggat tattcagcta ataatgggcg
      781 tattgggttt gggcttcatt gccacttacc ttccggagtc tgcaatgagt gcttacctgg
      841 ctgctgtggc acttcatatc atgctgtccc agctgacttt catctttggg attatgatta
      901 gtttccatgc cggtcccatc tccttcttct atgacataat taattactgt gtagctctcc
      961 caaaagcgaa ttccaccagc attctagtat ttctaactgt tgttgttgct ctgcgaatca
     1021 acaaatgtat cagaatttct ttcaatcagt atcccattga gtttcccatg gaattatttc
     1081 tgattattgg cttcactgtg attgcaaaca agataagcat ggccacagaa accagccaga
     1141 cgcttattga catgattcct tatagctttc tgcttcctgt aacaccagat ttcagccttc
     1201 ttcccaagat aattttacaa gccttctcct tatctttggt gagctccttt ctgctcatat
     1261 ttctgggcaa gaagattgcc agtcttcaca attacagtgt caattccaac caggatttaa
     1321 tagccatcgg cctttgcaat gtcgtcagtt catttttcag atcttgtgtg tttactggtg
     1381 ctattgctag gactattatc caggataaat ctggaggaag acaacagttt gcatctctgg
     1441 taggcgcagg tgtgatgctg ctcctgatgg tgaagatggg acactttttc tacacactgc
     1501 caaatgctgt gctggctggt attattctga gcaacgtcat tccctacctt gaaaccattt
     1561 ctaacctacc cagcctgtgg aggcaggacc aatatgactg tgctctttgg atgatgacat
     1621 tctcatcttc aattttcctg ggactggaca ttggactaat tatctcagta gtttctgctt
     1681 tcttcatcac cactgttcgt tcacacagag ctaagattct tctcctgggt caaatcccta
     1741 acaccaacat ttatagaagc atcaatgatt atcgggagat catcaccatt cctggggtga
     1801 aaatcttcca gtgctgcagc tcaattacat ttgtaaatgt ttactaccta aagcataagc
     1861 tgttaaaaga ggttgatatg gtaaaggtgc ctcttaaaga agaagaaatt ttcagcttgt
     1921 ttaattcaag tgacaccaat ctacaaggag gaaagatttg caggtgtttc tgcaactgtg
     1981 atgatctgga gccgctgccc aggattcttt acacagagcg atttgaaaat aaactggatc
     2041 ccgaagcatc ctccattaac ctgattcact gctcacattt tgagagcatg aacacaagcc
     2101 aaactgcatc cgaagaccaa gtgccataca cagtatcgtc cgtgtctcag aaaaatcaag
     2161 ggcaacagta tgaggaggtg gaggaagttt ggcttcctaa taactcatca agaaacagct
     2221 caccaggact gcctgatgtg gcggaaagcc aggggaggag atcactcatc ccttactcag
     2281 atgcgtctct actgcccagt gtccacacca tcatcctgga tttctccatg gtacactacg
     2341 tggattcacg ggggttagtc gtattaagac agatatgcaa tgcctttcaa aacgccaaca
     2401 ttttgatact cattgcaggg tgtcactctt ccatagtcag ggcatttgag aggaatgatt
     2461 tctttgacgc tggcatcacc aagacccagc tgttcctcag cgttcacgac gccgtgctgt
     2521 ttgccttgtc aaggaaggtc ataggctcct ctgagttaag catcgatgaa tccgagacag
     2581 tgatacggga aacctactca gaaacagaca agaatgacaa ttcaagatat aaaatgagca
     2641 gcagttttct aggaagccaa aaaaatgtaa gtccaggctt catcaagatc caacagcctg
     2701 tagaagagga gtcggagttg gatttggagc tggaatcaga acaagaggct gggctgggtc
     2761 tggacctaga cctggatcgg gagctggagc ctgaaatgga gcccaaggct gagaccgaga
     2821 ccaagaccca gaccgagatg gagccccagc ctgagactga gcctgagatg gagcccaacc
     2881 ccaaatctag gccaagagct cacacttttc ctcagcagcg ttactggcct atgtatcatc
     2941 cgtctatggc ttccacccag tctcagactc agactcggac atggtcagtg gagaggagac
     3001 gccatcctat ggattcatac tcaccagagg gcaacagcaa tgaagatgtc taggagatga
     3061 actagaaata aggggtcaga taatgctggc aaatcctcct acccaaaaag gggtcaattg
     3121 tccagagacc tagactggat acgaactagc agtacttcct tcctgactgt gactcctact
     3181 acctgccagc cttcttcctt gctctgcgct gggatcatac tcccaaatca cattactaaa
     3241 tgccaacaat tatctctgaa ttccctatcc aggctcccct catttcacct tcagcatata
     3301 ttctagtcat gaatttcctt cttcacacac cccacatctc tgggctttgt gccagaccat
     3361 ctctaactta atcctctcat ccctgttccc ctttctccaa agagatgaag ctcaaataaa
     3421 atgtataact ctagtaa
//
