LOCUS       NM_139319               3984 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens solute carrier family 17 member 8 (SLC17A8),
            transcript variant 1, mRNA.
ACCESSION   NM_139319
VERSION     NM_139319.3
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 3984)
  AUTHORS   Qi,Y., Gong,S., Liu,K. and Song,Y.
  TITLE     The c.824C>A and c.616dupA mutations in the SLC17a8 gene are
            associated with auditory neuropathy and lead to defective
            expression of VGluT3
  JOURNAL   Neuroreport 32 (11), 949-956 (2021)
   PUBMED   34145196
  REMARK    GeneRIF: The c.824C>A and c.616dupA mutations in the SLC17a8 gene
            are associated with auditory neuropathy and lead to defective
            expression of VGluT3.
REFERENCE   2  (bases 1 to 3984)
  AUTHORS   Cheret,C., Ganzella,M., Preobraschenski,J., Jahn,R. and
            Ahnert-Hilger,G.
  TITLE     Vesicular Glutamate Transporters (SLCA17 A6, 7, 8) Control Synaptic
            Phosphate Levels
  JOURNAL   Cell Rep 34 (2), 108623 (2021)
   PUBMED   33440152
REFERENCE   3  (bases 1 to 3984)
  AUTHORS   Ibrahim,K.S., Abd-Elrahman,K.S., El Mestikawy,S. and
            Ferguson,S.S.G.
  TITLE     Targeting Vesicular Glutamate Transporter Machinery: Implications
            on Metabotropic Glutamate Receptor 5 Signaling and Behavior
  JOURNAL   Mol Pharmacol 98 (4), 314-327 (2020)
   PUBMED   32873747
  REMARK    GeneRIF: Targeting Vesicular Glutamate Transporter Machinery:
            Implications on Metabotropic Glutamate Receptor 5 Signaling and
            Behavior.
            Review article
REFERENCE   4  (bases 1 to 3984)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3984)
  AUTHORS   Ryu,N., Lee,S., Park,H.J., Lee,B., Kwon,T.J., Bok,J., Park,C.I.,
            Lee,K.Y., Baek,J.I. and Kim,U.K.
  TITLE     Identification of a novel splicing mutation within SLC17A8 in a
            Korean family with hearing loss by whole-exome sequencing
  JOURNAL   Gene 627, 233-238 (2017)
   PUBMED   28647561
  REMARK    GeneRIF: Novel pathogenic splicing mutation in SLC17A8 gene
            identified in a family with hearing loss.
REFERENCE   6  (bases 1 to 3984)
  AUTHORS   Fremeau,R.T. Jr., Voglmaier,S., Seal,R.P. and Edwards,R.H.
  TITLE     VGLUTs define subsets of excitatory neurons and suggest novel roles
            for glutamate
  JOURNAL   Trends Neurosci 27 (2), 98-103 (2004)
   PUBMED   15102489
  REMARK    Review article
REFERENCE   7  (bases 1 to 3984)
  AUTHORS   Takamori,S., Malherbe,P., Broger,C. and Jahn,R.
  TITLE     Molecular cloning and functional characterization of human
            vesicular glutamate transporter 3
  JOURNAL   EMBO Rep 3 (8), 798-803 (2002)
   PUBMED   12151341
  REMARK    GeneRIF: human vesicular glutamate transporter 3 was cloned, shows
            72% identity to both hVGLUT1 and hVGLUT2, and its expression in
            brain overlaps with hVGLUT1 and hVGLUT2
REFERENCE   8  (bases 1 to 3984)
  AUTHORS   Gras,C., Herzog,E., Bellenchi,G.C., Bernard,V., Ravassard,P.,
            Pohl,M., Gasnier,B., Giros,B. and El Mestikawy,S.
  TITLE     A third vesicular glutamate transporter expressed by cholinergic
            and serotoninergic neurons
  JOURNAL   J Neurosci 22 (13), 5442-5451 (2002)
   PUBMED   12097496
REFERENCE   9  (bases 1 to 3984)
  AUTHORS   Greene,C.C., McMillan,P.M., Barker,S.E., Kurnool,P., Lomax,M.I.,
            Burmeister,M. and Lesperance,M.M.
  TITLE     DFNA25, a novel locus for dominant nonsyndromic hereditary hearing
            impairment, maps to 12q21-24
  JOURNAL   Am J Hum Genet 68 (1), 254-260 (2001)
   PUBMED   11115382
REFERENCE   10 (bases 1 to 3984)
  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 AC026110.42, AK128319.1,
            AC126308.6 and AJ459241.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_139319.2.
            
            Summary: This gene encodes a vesicular glutamate transporter. The
            encoded protein transports the neurotransmitter glutamate into
            synaptic vesicles before it is released into the synaptic cleft.
            Mutations in this gene are the cause of autosomal-dominant
            nonsyndromic type 25 deafness. Alternate splicing results in
            multiple transcript variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (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 :: AK128319.1, AJ459241.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267766, SAMN03465418
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323346.10/ ENSP00000316909.4
            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
            1-5                 AC026110.42        12659-12663         c
            6-3607              AK128319.1         1-3602
            3608-3619           AC126308.6         53942-53953
            3620-3984           AJ459241.1         3470-3834
FEATURES             Location/Qualifiers
     source          1..3984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..3984
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /note="solute carrier family 17 member 8"
                     /db_xref="GeneID:246213"
                     /db_xref="HGNC:HGNC:20151"
                     /db_xref="MIM:607557"
     exon            1..419
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             319..2088
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vesicular glutamate transporter 3; solute carrier family
                     17 (vesicular glutamate transporter), member 8; solute
                     carrier family 17 (sodium-dependent inorganic phosphate
                     cotransporter), member 8"
                     /codon_start=1
                     /product="vesicular glutamate transporter 3 isoform 1"
                     /protein_id="NP_647480.1"
                     /db_xref="CCDS:CCDS9077.1"
                     /db_xref="GeneID:246213"
                     /db_xref="HGNC:HGNC:20151"
                     /db_xref="MIM:607557"
                     /translation="MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEED
                     NIELNEEGRPVQTSRPSPPLCDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVE
                     MVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVF
                     GAAIFLTSTLNMFIPSAARVHYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSR
                     LATTSFCGSYAGAVVAMPLAGVLVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAH
                     PTISNEEKTYIETSIGEGANVVSLSKFSTPWKRFFTSLPVYAIIVANFCRSWTFYLLL
                     ISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRQILTTTAVRKIM
                     NCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILM
                     GISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQE
                     WADPENLSEEKCGIIDQDELAEEIELNHESFASPKKKMSYGATSQNCEVQKKEWKGQR
                     GATLDEEELTSYQNEERNFSTIS"
     exon            420..672
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            673..791
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            792..906
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            907..994
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1081
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1221
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1371
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1372..1504
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..1615
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..1743
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..3984
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3476..3481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /note="hexamer: AATAAA"
     polyA_site      3495
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /note="major polyA site"
     regulatory      3962..3967
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /note="hexamer: AATAAA"
     polyA_site      3984
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /note="major polyA site"
ORIGIN      
        1 agtctgagag tggctgcctg agacagctgc cacaggctgc tgcagagcgt gcagcttttg
       61 caagggactg aattcccagc cagacacccc ttggactctt ttttggaggg gtggggagca
      121 gagagaggag ggagttgtct tatcttggaa gatccgagct gggtttcatc tcctttttga
      181 ttttgagtag ttccctccac gagaactgac ttccaggtgt tcaccaaggg aaacaaggtg
      241 gttctcacac tggaaatgag gaaggatgac agtttttgag actgactgtt aacggctcag
      301 aggtgcccct cattcaaaat gccttttaaa gcatttgata ccttcaaaga aaaaattctg
      361 aaacctggga aggaaggagt gaagaacgcc gtgggagatt ctttgggaat tttacaaaga
      421 aaaatcgatg ggacaactga ggaagaagat aacattgagc tgaatgaaga aggaaggccg
      481 gtgcagacgt ccaggccaag ccccccactc tgcgactgcc actgctgcgg cctccccaag
      541 cgttacatca ttgctatcat gagtgggctg ggattctgca tttcctttgg gatccggtgc
      601 aatcttggag ttgccattgt ggaaatggtc aacaatagca ccgtatatgt tgatggaaaa
      661 ccggaaattc agacagcaca gtttaactgg gatccagaaa cagtgggcct tatccatgga
      721 tcttttttct ggggctatat tatgacacaa attccaggtg gtttcatttc aaacaagttt
      781 gctgctaaca gggtctttgg agctgccatc ttcttaacat cgactctgaa catgtttatt
      841 ccctctgcag ccagagtgca ttacggatgc gtcatgtgtg tcagaattct gcaaggttta
      901 gtggagggtg tgacctaccc agcctgccat gggatgtgga gtaagtgggc accacctttg
      961 gagagaagcc gactggccac aacctctttt tgtggttcct atgcaggggc agtggttgcc
     1021 atgcccctgg ctggggtgtt ggtgcagtac attggatggt cctctgtctt ttatatttat
     1081 ggcatgtttg ggattatttg gtacatgttt tggctgttgc aggcctatga gtgcccagca
     1141 gctcatccaa caatatccaa tgaggagaag acctatatag agacaagcat aggagagggg
     1201 gccaacgtgg ttagtctaag taaatttagt accccatgga aaagattttt cacatctttg
     1261 ccggtttatg caatcattgt ggcaaatttt tgcagaagct ggacctttta tttgctcctc
     1321 ataagtcagc ctgcttattt tgaagaggtc tttggatttg caataagtaa ggtgggtctc
     1381 ttgtcagcag tcccacacat ggttatgaca atcgttgtac ctattggagg acaattggct
     1441 gattatttaa gaagcagaca aattttaacc acaactgctg tcagaaaaat catgaactgt
     1501 ggaggttttg gcatggaggc aaccttactc ctggtggttg gcttttcgca taccaaaggg
     1561 gtggctatct cctttctggt acttgctgta ggatttagtg gcttcgctat ttcaggtttt
     1621 aatgtcaacc acctggacat tgccccacgc tatgccagca ttctcatggg gatctcaaac
     1681 ggagtgggaa ccctctctgg aatggtctgt cccctcattg tcggtgcaat gaccaggcac
     1741 aagacccgtg aagaatggca gaatgtgttc ctcatagctg ccctggtgca ttacagtggt
     1801 gtgatcttct atggggtctt tgcttctggg gagaaacagg agtgggctga cccagagaat
     1861 ctctctgagg agaaatgtgg aatcattgac caggacgaat tagctgagga gatagaactc
     1921 aaccatgaga gttttgcgag tcccaaaaag aagatgtctt atggagccac ctcccagaat
     1981 tgtgaagtcc agaagaagga atggaaagga cagagaggag cgacccttga tgaggaagag
     2041 ctgacatcct accagaatga agagagaaac ttctcaacta tatcctaatg tctgagaggc
     2101 acttctgtct tctccttact ttagaaacag aaagtatcca tacctattgc ctttcttgta
     2161 gcccagcttg ccagaggtcc aaatattggg aggggagaag atctaaccag caacagggaa
     2221 aagagaaata ttatctttca atgacatgta taggtaagga gctgcgctca gttgataaca
     2281 tagttgataa tacatatttt ttgaattgac agttgaccct tctctcaaag agctaaactt
     2341 attcagaaag gaatgactag aagaaaaagg agacaatacc atgttgttca aagaaacatt
     2401 gaaggaaatt gggatgtttg gccagaagga atgtaaacag tagtagtagc tgccaccaca
     2461 tctctagggt agccatgcag aggagggctt catattccca ataaacccca cgttgtggca
     2521 ggtgctttat aaacactctt atttaatctc cacaccttta tgacacacat ttcttatccc
     2581 cattttacaa ccaaggcatc taaagcaaca agaaatgaac ttgcccaagg tcatctgcca
     2641 gggtcagtgc tgagactgtt gaagctctca ataggtggca gttttaggga agatttccat
     2701 tcagtgtagg gaagacattt gtaataatga aaactgaaaa tggagtaatt gtgagtaact
     2761 caccacttta gcaggtgttg gggaagggaa acatttgggt tgatgaggca gaggggattc
     2821 aaatgtgtga gaggctagat tcaaagaccc tcagtgttct atgttatctg aagagtcaaa
     2881 tggttttgtg actccatagt ttttaaagta ataagggtca aagactacat cagagattca
     2941 aataggtttt taaagaaaag ctaagcaaga gagccaaatt tttagaaatc tgatggtcaa
     3001 aatagctgaa agcagtaaac aagagattgg ctattaaatt tcaactttcc ataatattaa
     3061 gaatgtagct aaatgatgtc ccaaactact tacaaacttt taagacattt aataatttaa
     3121 gaagtaggtt catgtgtttt cttaggtaaa gttcttctga aagaattttc tatttttaaa
     3181 aaatgtatct ctttagcctt ttctgctgga gattatatta ggaagtttca tcagattgta
     3241 taaaattatg attttgtatc aaaagtattc atgatgactc tatttggaat gatattcagg
     3301 gaaatcacaa taatatagca gtagttatac agagaaatac tacaatgaaa acatttgggg
     3361 caattagacc tacagttact gttgaaaaat tcacctttga ttgcataagg caattacatg
     3421 gatactttta gatatattta aaattttaac attggcatct aaagtgttat ttgaaaataa
     3481 aattattttc ctgttcattg attttaaaca ttttattcct actttcagaa gaaaaatata
     3541 atacggaaaa aattatagat ttacttgtag cttattattg taaagtgttt tttttttttt
     3601 tttttttttc taatttctcc cacatgtatt tctggtcccc agtgatacta gctgagttgt
     3661 agtgtatttt ataaatggaa taatcttggg gaaaaattgc gattcttcat taaataatat
     3721 tctttatgtc actagcatac aatttatgtt agtagacatc tttaaatctc tttaatgagt
     3781 gaatccatgc aagccccata aaacagttcc tagcatgcag aaaatgccca cgtaaatagc
     3841 tgtcatcatc attatctttt aacattttgg gggactttcc agttgaaaag aaaacatgct
     3901 atgtcatttt tatccattat ccctggaact tattgtgaaa gttgtgctgt tttctaagta
     3961 aaataaaaaa taaaaaatta gcaa
//
