LOCUS       NM_020309               2949 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens solute carrier family 17 member 7 (SLC17A7), mRNA.
ACCESSION   NM_020309
VERSION     NM_020309.4
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 2949)
  AUTHORS   Zhang,X.M., Francois,U., Silm,K., Angelo,M.F.,
            Fernandez-Busch,M.V., Maged,M., Martin,C., Bernard,V.,
            Cordelieres,F.P., Deshors,M., Pons,S., Maskos,U., Bemelmans,A.P.,
            Wojcik,S.M., El Mestikawy,S., Humeau,Y. and Herzog,E.
  TITLE     A proline-rich motif on VGLUT1 reduces synaptic vesicle super-pool
            and spontaneous release frequency
  JOURNAL   Elife 8, e50401 (2019)
   PUBMED   31663854
  REMARK    GeneRIF: In mammals, VGLUT1 gained a proline-rich sequence that
            recruits endophilinA1 and turns the transporter into a regulator of
            synaptic vesicles organization and spontaneous release.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2949)
  AUTHORS   Gladitz,J., Klink,B. and Seifert,M.
  TITLE     Network-based analysis of oligodendrogliomas predicts novel cancer
            gene candidates within the region of the 1p/19q co-deletion
  JOURNAL   Acta Neuropathol Commun 6 (1), 49 (2018)
   PUBMED   29890994
  REMARK    GeneRIF: The findings of this study indicate that Slc17A7 located
            on 1p/19q may simultaneously influence tumor development.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2949)
  AUTHORS   Rodriguez-Perdigon,M., Tordera,R.M., Gil-Bea,F.J., Gerenu,G.,
            Ramirez,M.J. and Solas,M.
  TITLE     Down-regulation of glutamatergic terminals (VGLUT1) driven by Abeta
            in Alzheimer's disease
  JOURNAL   Hippocampus 26 (10), 1303-1312 (2016)
   PUBMED   27258819
  REMARK    GeneRIF: Study revealed susceptibility of glutamatergic nerve
            terminals to Abeta induced toxicity and underlined the importance
            of VGLUT1 in the progression of Alzheimer's disease, as the
            decrease of this protein levels could increase the susceptibility
            to subsequent deleterious inputs by exacerbating Abeta induced
            neuroinflammation and synaptic plasticity disruption.
REFERENCE   4  (bases 1 to 2949)
  AUTHORS   Madura,S.A., McDevitt,J.K., Tierney,R.T., Mansell,J.L., Hayes,D.J.,
            Gaughan,J.P. and Krynetskiy,E.
  TITLE     Genetic variation in SLC17A7 promoter associated with response to
            sport-related concussions
  JOURNAL   Brain Inj 30 (7), 908-913 (2016)
   PUBMED   27029226
  REMARK    GeneRIF: This study was the first to demonstrate an association
            between genetic polymorphism at rs7417284 SNP in the promoter
            region of the SLC17A7 gene and concussion severity and duration.
            Based upon these findings, rs74174284 is a potential predictive
            genetic marker for identifying athletes who are more susceptible
            for altered recovery times and worse motor speed ImPACT scores
            after sport-related concussion.
REFERENCE   5  (bases 1 to 2949)
  AUTHORS   Rodriguez-Perdigon,M., Solas,M. and Ramirez,M.J.
  TITLE     JNK: A Putative Link Between Insulin Signaling and VGLUT1 in
            Alzheimer's Disease
  JOURNAL   J Alzheimers Dis 50 (4), 963-967 (2016)
   PUBMED   26836159
  REMARK    GeneRIF: Results suggest that activation of JNK in Alzheimer's
            disease (AD) inhibits insulin signaling which could lead to a
            decreased expression of VGLUT1, therefore contributing to the
            glutamatergic deficit in AD
REFERENCE   6  (bases 1 to 2949)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2949)
  AUTHORS   Takamori,S., Rhee,J.S., Rosenmund,C. and Jahn,R.
  TITLE     Identification of a vesicular glutamate transporter that defines a
            glutamatergic phenotype in neurons
  JOURNAL   Nature 407 (6801), 189-194 (2000)
   PUBMED   11001057
REFERENCE   8  (bases 1 to 2949)
  AUTHORS   Bellocchio,E.E., Reimer,R.J., Fremeau,R.T. Jr. and Edwards,R.H.
  TITLE     Uptake of glutamate into synaptic vesicles by an inorganic
            phosphate transporter
  JOURNAL   Science 289 (5481), 957-960 (2000)
   PUBMED   10938000
REFERENCE   9  (bases 1 to 2949)
  AUTHORS   Aihara,Y., Mashima,H., Onda,H., Hisano,S., Kasuya,H., Hori,T.,
            Yamada,S., Tomura,H., Yamada,Y., Inoue,I., Kojima,I. and Takeda,J.
  TITLE     Molecular cloning of a novel brain-type Na(+)-dependent inorganic
            phosphate cotransporter
  JOURNAL   J Neurochem 74 (6), 2622-2625 (2000)
   PUBMED   10820226
REFERENCE   10 (bases 1 to 2949)
  AUTHORS   Ni,B., Du,Y., Wu,X., DeHoff,B.S., Rosteck,P.R. Jr. and Paul,S.M.
  TITLE     Molecular cloning, expression, and chromosomal localization of a
            human brain-specific Na(+)-dependent inorganic phosphate
            cotransporter
  JOURNAL   J Neurochem 66 (6), 2227-2238 (1996)
   PUBMED   8632143
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010619.7, BC059379.1,
            AB032436.1, BQ636968.1 and BU732143.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020309.3.
            
            Summary: The protein encoded by this gene is a vesicle-bound,
            sodium-dependent phosphate transporter that is specifically
            expressed in the neuron-rich regions of the brain. It is
            preferentially associated with the membranes of synaptic vesicles
            and functions in glutamate transport. The protein shares 82%
            identity with the differentiation-associated Na-dependent inorganic
            phosphate cotransporter and they appear to form a distinct class
            within the Na+/Pi cotransporter family. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on 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 :: BC059379.1, SRR3476690.554678.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221485.8/ ENSP00000221485.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                AC010619.7         28645-28698         c
            55-939              BC059379.1         54-938
            940-2493            AB032436.1         813-2366
            2494-2948           BQ636968.1         122-576
            2949-2949           BU732143.1         21-21               c
FEATURES             Location/Qualifiers
     source          1..2949
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..2949
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /note="solute carrier family 17 member 7"
                     /db_xref="GeneID:57030"
                     /db_xref="HGNC:HGNC:16704"
                     /db_xref="MIM:605208"
     exon            1..210
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1831
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /note="brain-specific Na-dependent inorganic phosphate
                     cotransporter; brain-specific Na(+)-dependent inorganic
                     phosphate cotransporter; solute carrier family 17
                     (vesicular glutamate transporter), member 7; solute
                     carrier family 17 (sodium-dependent inorganic phosphate
                     cotransporter), member 7"
                     /codon_start=1
                     /product="vesicular glutamate transporter 1"
                     /protein_id="NP_064705.1"
                     /db_xref="CCDS:CCDS12764.1"
                     /db_xref="GeneID:57030"
                     /db_xref="HGNC:HGNC:16704"
                     /db_xref="MIM:605208"
                     /translation="MEFRQEEFRKLAGRALGKLHRLLEKRQEGAETLELSADGRPVTT
                     QTRDPPVVDCTCFGLPRRYIIAIMSGLGFCISFGIRCNLGVAIVSMVNNSTTHRGGHV
                     VVQKAQFSWDPETVGLIHGSFFWGYIVTQIPGGFICQKFAANRVFGFAIVATSTLNML
                     IPSAARVHYGCVIFVRILQGLVEGVTYPACHGIWSKWAPPLERSRLATTAFCGSYAGA
                     VVAMPLAGVLVQYSGWSSVFYVYGSFGIFWYLFWLLVSYESPALHPSISEEERKYIED
                     AIGESAKLMNPLTKFSTPWRRFFTSMPVYAIIVANFCRSWTFYLLLISQPAYFEEVFG
                     FEISKVGLVSALPHLVMTIIVPIGGQIADFLRSRRIMSTTNVRKLMNCGGFGMEATLL
                     LVVGYSHSKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGM
                     VCPIIVGAMTKHKTREEWQYVFLIASLVHYGGVIFYGVFASGEKQPWAEPEEMSEEKC
                     GFVGHDQLAGSDDSEMEDEAEPPGAPPAPPPSYGATHSTFQPPRPPPPVRDY"
     exon            211..463
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            464..582
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            583..697
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            698..785
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..872
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1015
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1165
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1298
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1409
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1537
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..2949
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2927..2932
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /note="hexamer: AATAAA"
     polyA_site      2949
                     /gene="SLC17A7"
                     /gene_synonym="BNPI; VGLUT1"
                     /note="major polyA site"
ORIGIN      
        1 acttgcagcc tccttccccc cgagcggagc tgcggggccg gccgggccgg ggctggaccc
       61 cgggaacccg gacgcggccg cccgggcccg cgggcggggg gatcggcggg ggggacccgc
      121 ggggtgaccg gcggcaggag ccgccaccat ggagttccgc caggaggagt ttcggaagct
      181 agcgggtcgt gctctcggga agctgcaccg ccttctggag aagcggcagg aaggcgcgga
      241 gacgctggag ctgagtgcgg atgggcgccc ggtgaccacg cagacccggg acccgccggt
      301 ggtggactgc acctgcttcg gcctccctcg ccgctacatt atcgccatca tgagtggtct
      361 gggcttctgc atcagctttg gcatccgctg caacctgggc gtggccatcg tctccatggt
      421 caataacagc acgacccacc gcgggggcca cgtggtggtg cagaaagccc agttcagctg
      481 ggatccagag actgtcggcc tcatacacgg ctcctttttc tggggctaca ttgtcactca
      541 gattccagga ggatttatct gtcaaaaatt tgcagccaac agagttttcg gctttgctat
      601 tgtggcaaca tccactctaa acatgctgat cccctcagct gcccgcgtcc actatggctg
      661 tgtcatcttc gtgaggatcc tgcaggggtt ggtagagggg gtcacatacc ccgcctgcca
      721 tgggatctgg agcaaatggg ccccaccctt agaacggagt cgcctggcga cgacagcctt
      781 ttgtggttcc tatgctgggg cggtggtcgc gatgcccctc gccggggtcc ttgtgcagta
      841 ctcaggatgg agctctgttt tctacgtcta cggcagcttc gggatcttct ggtacctgtt
      901 ctggctgctc gtctcctacg agtcccccgc gctgcacccc agcatctcgg aggaggagcg
      961 caagtacatc gaggacgcca tcggagagag cgcgaaactc atgaaccccc tcacgaagtt
     1021 tagcactccc tggcggcgct tcttcacgtc tatgccagtc tatgccatca tcgtggccaa
     1081 cttctgccgc agctggacgt tctacctgct gctcatctcc cagcccgcct acttcgaaga
     1141 agtgttcggc ttcgagatca gcaaggtagg cctggtgtcc gcgctgcccc acctggtcat
     1201 gaccatcatc gtgcccatcg gcggccagat cgcggacttc ctgcggagcc gccgcatcat
     1261 gtccaccacc aacgtgcgca agttgatgaa ctgcggaggc ttcggcatgg aagccacgct
     1321 gctgttggtg gtcggctact cgcactccaa gggcgtggcc atctccttcc tggtcctagc
     1381 cgtgggcttc agcggcttcg ccatctctgg gttcaacgtg aaccacctgg acatagcccc
     1441 gcgctacgcc agcatcctca tgggcatctc caacggcgtg ggcacactgt cgggcatggt
     1501 gtgccccatc atcgtggggg ccatgactaa gcacaagact cgggaggagt ggcagtacgt
     1561 gttcctaatt gcctccctgg tgcactatgg aggtgtcatc ttctacgggg tctttgcttc
     1621 tggagagaag cagccgtggg cagagcctga ggagatgagc gaggagaagt gtggcttcgt
     1681 tggccatgac cagctggctg gcagtgacga cagcgaaatg gaggatgagg ctgagccccc
     1741 gggggcaccc cctgcacccc cgccctccta tggggccaca cacagcacat ttcagccccc
     1801 caggccccca ccccctgtcc gggactactg accatgtgcc tcccactgaa tggcagtttc
     1861 caggacctcc attccactca tctctggcct gagtgacagt gtcaaggaac cctgctcctc
     1921 tctgtcctgc ctcaggccta agaagcactc tcccttgttc ccagtgctgt caaatcctct
     1981 ttccttccca attgcctctc aggggtagtg aagctgcaga ctgacagttt caaggatacc
     2041 caaattcccc taaaggttcc ctctccaccc gttctgcctc agtggtttca aatctctcct
     2101 ttcagggctt tatttgaatg gacagttcga cctcttactc tctcttgtgg ttttgaggca
     2161 cccacacccc ccgctttcct ttatctccag ggactctcag gctaaccttt gagatcactc
     2221 agctcccatc tcctttcaga aaaattcaag gtcctcctct agaagtttca aatctctccc
     2281 aactctgttc tgcatcttcc agattggttt aaccaattac tcgtccccgc cattccaggg
     2341 attgattctc accagcgttt ctgatggaaa atggcggttt caagtccccg attccgtgcc
     2401 cacttcacat ctcccctacc agcagattct gcgaaagcac caaatttctc aagaccctct
     2461 tctccctagc ttagcataat gtctggggaa acaaccaaaa tcgcaatttt aacaatatgc
     2521 ctctctaccc ccgtgcactt tttctgacat ggttttcagg tctaaatagt ggctgctcca
     2581 gtccatgaac tcaaaggttt gaagctacca ccattgaact cccccatggt ggtttcatga
     2641 tgccccctcc ccaattcctc gcactttatt ctcctgggtg gtttcgaact accctgtttc
     2701 tcagtggcca tttgttgtgt ccctcagggg cttaatgact caaaatctgg gatccttccc
     2761 ctctcagaca cccctctttc agcttagaat ttggggaacc tatagagaag tcacagaatc
     2821 ccatgaaagg gaatggggca ggagccaggg gtgttttttc ccagtgcagg gttgtgtctt
     2881 tgtgtctctg tctctgtgac tgtaaatcct gccctgcccc actcccaata aaagctttgg
     2941 tgtataggc
//
