LOCUS       NM_004172               3919 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens solute carrier family 1 member 3 (SLC1A3), transcript
            variant GLAST, mRNA.
ACCESSION   NM_004172
VERSION     NM_004172.5
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 3919)
  AUTHORS   Albury,C.L., Sutherland,H.G., Lam,A.W.Y., Tran,N.K., Lea,R.A.,
            Haupt,L.M. and Griffiths,L.R.
  TITLE     Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene
            SLC1A3 Associated with Reduced Migraine Risk
  JOURNAL   Genes (Basel) 15 (6), 797 (2024)
   PUBMED   38927733
  REMARK    GeneRIF: Identification of Polymorphisms in EAAT1 Glutamate
            Transporter Gene SLC1A3 Associated with Reduced Migraine Risk.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3919)
  AUTHORS   Welby,E. and Ebert,A.D.
  TITLE     Diminished motor neuron activity driven by abnormal astrocytic
            EAAT1 glutamate transporter activity in spinal muscular atrophy is
            not fully restored after lentiviral SMN delivery
  JOURNAL   Glia 71 (5), 1311-1332 (2023)
   PUBMED   36655314
  REMARK    GeneRIF: Diminished motor neuron activity driven by abnormal
            astrocytic EAAT1 glutamate transporter activity in spinal muscular
            atrophy is not fully restored after lentiviral SMN delivery.
REFERENCE   3  (bases 1 to 3919)
  AUTHORS   Wu,Q., Akhter,A., Pant,S., Cho,E., Zhu,J.X., Garner,A., Ohyama,T.,
            Tajkhorshid,E., van Meyel,D.J. and Ryan,R.M.
  TITLE     Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel
            activity and glial regulation of CNS function
  JOURNAL   J Clin Invest 132 (7) (2022)
   PUBMED   35167492
  REMARK    GeneRIF: Ataxia-linked SLC1A3 mutations alter EAAT1 chloride
            channel activity and glial regulation of CNS function.
REFERENCE   4  (bases 1 to 3919)
  AUTHORS   Pant,S., Wu,Q., Ryan,R. and Tajkhorshid,E.
  TITLE     Microscopic Characterization of the Chloride Permeation Pathway in
            the Human Excitatory Amino Acid Transporter 1 (EAAT1)
  JOURNAL   ACS Chem Neurosci 13 (6), 776-785 (2022)
   PUBMED   35192345
  REMARK    GeneRIF: Microscopic Characterization of the Chloride Permeation
            Pathway in the Human Excitatory Amino Acid Transporter 1 (EAAT1).
REFERENCE   5  (bases 1 to 3919)
  AUTHORS   Lee,A., Anderson,A.R., Beasley,S.J., Barnett,N.L., Poronnik,P. and
            Pow,D.V.
  TITLE     A new splice variant of the glutamate-aspartate transporter:
            cloning and immunolocalization of GLAST1c in rat, pig and human
            brains
  JOURNAL   J Chem Neuroanat 43 (1), 52-63 (2012)
   PUBMED   22026960
REFERENCE   6  (bases 1 to 3919)
  AUTHORS   Vallejo-Illarramendi,A., Domercq,M. and Matute,C.
  TITLE     A novel alternative splicing form of excitatory amino acid
            transporter 1 is a negative regulator of glutamate uptake
  JOURNAL   J Neurochem 95 (2), 341-348 (2005)
   PUBMED   16042756
  REMARK    GeneRIF: EAAT1ex9skip splice variant is a negative regulator of
            full-length EAAT1 function in the human brain
REFERENCE   7  (bases 1 to 3919)
  AUTHORS   Takai,S., Yamada,K., Kawakami,H., Tanaka,K. and Nakamura,S.
  TITLE     Localization of the gene (SLC1A3) encoding human glutamate
            transporter (GluT-1) to 5p13 by fluorescence in situ hybridization
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 209-210 (1995)
   PUBMED   7698014
REFERENCE   8  (bases 1 to 3919)
  AUTHORS   Shashidharan,P., Huntley,G.W., Meyer,T., Morrison,J.H. and
            Plaitakis,A.
  TITLE     Neuron-specific human glutamate transporter: molecular cloning,
            characterization and expression in human brain
  JOURNAL   Brain Res 662 (1-2), 245-250 (1994)
   PUBMED   7859077
REFERENCE   9  (bases 1 to 3919)
  AUTHORS   Arriza,J.L., Fairman,W.A., Wadiche,J.I., Murdoch,G.H.,
            Kavanaugh,M.P. and Amara,S.G.
  TITLE     Functional comparisons of three glutamate transporter subtypes
            cloned from human motor cortex
  JOURNAL   J Neurosci 14 (9), 5559-5569 (1994)
   PUBMED   7521911
REFERENCE   10 (bases 1 to 3919)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC320625.1, D26443.1,
            BC037310.2, AK057823.1 and AF070609.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004172.4.
            
            Summary: This gene encodes a member of a member of a high affinity
            glutamate transporter family. This gene functions in the
            termination of excitatory neurotransmission in central nervous
            system. Mutations are associated with episodic ataxia, Type 6.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (GLAST) represents the longest
            transcript and encodes the longest protein (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 :: SRR1803615.84261.1,
                                           SRR1803611.74849.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265113.9/ ENSP00000265113.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                DC320625.1         252-298
            48-2147             D26443.1           1-2100
            2148-2875           BC037310.2         2167-2894
            2876-3119           AK057823.1         737-980
            3120-3917           D26443.1           3074-3871
            3918-3919           AF070609.1         1834-1835
FEATURES             Location/Qualifiers
     source          1..3919
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..3919
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /note="solute carrier family 1 member 3"
                     /db_xref="GeneID:6507"
                     /db_xref="HGNC:HGNC:10941"
                     /db_xref="MIM:600111"
     exon            1..130
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            131..406
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     CDS             226..1854
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /note="isoform 1 is encoded by transcript variant GLAST;
                     excitatory amino acid transporter 1; GLAST-1;
                     sodium-dependent glutamate/aspartate transporter 1; solute
                     carrier family 1 (glial high affinity glutamate
                     transporter), member 3"
                     /codon_start=1
                     /product="excitatory amino acid transporter 1 isoform 1"
                     /protein_id="NP_004163.3"
                     /db_xref="CCDS:CCDS3919.1"
                     /db_xref="GeneID:6507"
                     /db_xref="HGNC:HGNC:10941"
                     /db_xref="MIM:600111"
                     /translation="MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSY
                     LFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKYFSFPGELLMRMLQMLVLPLIIS
                     SLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGK
                     IVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQANETLVGAVINNVS
                     EAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNE
                     AIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLP
                     LLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLP
                     VGATINMDGTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVT
                     MVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNVLGDSLGAGIVEHLSRHELKNRDVE
                     MGNSVIEENEMKKPYQLIAQDNETEKPIDSETKM"
     exon            407..544
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            545..749
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            750..792
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            793..1085
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1319
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1514
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1649
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..3919
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3896..3901
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /note="hexamer: AAGAAA"
     polyA_site      3919
                     /gene="SLC1A3"
                     /gene_synonym="EA6; EAAT1; GLAST; GLAST1"
                     /note="major polyA site"
ORIGIN      
        1 agagcacatg cacactgtca gggctagcct gcctgcttac gcgcgctgcg gattgttgct
       61 ccgttgtacc tgctggggaa ttcacctcgt tactgcttga tatcttccac cccttacaaa
      121 atcagaaaag ttgtgttttc taataccaaa gaggaggttt ggctttctgt gggtgattcc
      181 cagacactga agtgcaaaga agagaccctc ctagaaaagt aaaatatgac taaaagcaat
      241 ggagaagagc ccaagatggg gggcaggatg gagagattcc agcagggagt ccgtaaacgc
      301 acacttttgg ccaagaagaa agtgcagaac attacaaagg aggatgttaa aagttacctg
      361 tttcggaatg cttttgtgct gctcacagtc accgctgtca ttgtgggtac aatccttgga
      421 tttaccctcc gaccatacag aatgagctac cgggaagtca agtacttctc ctttcctggg
      481 gaacttctga tgaggatgtt acagatgctg gtcttaccac ttatcatctc cagtcttgtc
      541 acaggaatgg cggcgctaga tagtaaggca tcagggaaga tgggaatgcg agctgtagtc
      601 tattatatga ctaccaccat cattgctgtg gtgattggca taatcattgt catcatcatc
      661 catcctggga agggcacaaa ggaaaacatg cacagagaag gcaaaattgt acgagtgaca
      721 gctgcagatg ccttcctgga cttgatcagg aacatgttcc ctccaaatct ggtagaagcc
      781 tgctttaaac agtttaaaac caactatgag aagagaagct ttaaagtgcc catccaggcc
      841 aacgaaacgc ttgtgggtgc tgtgataaac aatgtgtctg aggccatgga gactcttacc
      901 cgaatcacag aggagctggt cccagttcca ggatctgtga atggagtcaa tgccctgggt
      961 ctagttgtct tctccatgtg cttcggtttt gtgattggaa acatgaagga acaggggcag
     1021 gccctgagag agttctttga ttctcttaac gaagccatca tgagactggt agcagtaata
     1081 atgtggtatg cccccgtggg tattctcttc ctgattgctg ggaagattgt ggagatggaa
     1141 gacatgggtg tgattggggg gcagcttgcc atgtacaccg tgactgtcat tgttggctta
     1201 ctcattcacg cagtcatcgt cttgccactc ctctacttct tggtaacacg gaaaaaccct
     1261 tgggttttta ttggagggtt gctgcaagca ctcatcaccg ctctggggac ctcttcaagt
     1321 tctgccaccc tacccatcac cttcaagtgc ctggaagaga acaatggcgt ggacaagcgc
     1381 gtcaccagat tcgtgctccc cgtaggagcc accattaaca tggatgggac tgccctctat
     1441 gaggctttgg ctgccatttt cattgctcaa gttaacaact ttgaactgaa cttcggacaa
     1501 attattacaa tcagcatcac agccacagct gccagtattg gggcagctgg aattcctcag
     1561 gcgggcctgg tcactatggt cattgtgctg acatctgtcg gcctgcccac tgacgacatc
     1621 acgctcatca tcgcggtgga ctggttcctg gatcgcctcc ggaccaccac caacgtactg
     1681 ggagactccc tgggagctgg gattgtggag cacttgtcac gacatgaact gaagaacaga
     1741 gatgttgaaa tgggtaactc agtgattgaa gagaatgaaa tgaagaaacc atatcaactg
     1801 attgcacagg acaatgaaac tgagaaaccc atcgacagtg aaaccaagat gtagactaac
     1861 ataaagaaac actttcttga gcaccaggtg ttaaaaacca ttataaaatc tttccatctc
     1921 attacagctc attcgctcca gcaagcccgt catcttccct ttcctccctt ctgataagac
     1981 tggaaaatag tcctccaaaa cacaagggag gattttgggt ggccaaagtg tacaattttc
     2041 atcccacaat tgaaattttt aaatcatttc atgttagtct taccgaataa ggtaccaaga
     2101 tcacaaatag tgttgatcag atcttacaag tttatgtggc acacaatcct ataaatgtga
     2161 tttttttata taagttaaag agacaaatag taggctaaaa acattttaaa atcaactttt
     2221 gaaatttaaa aatctttcag aatacaattc agttttagtt tcaaaatgtt aacaacttga
     2281 attacaaccg gttatcagtt ggacagtaag attttatccc tttctcttct gactggtata
     2341 cctatttcat tagtagctag gtgcacatat acatctagca cagctgtgag gacagacaga
     2401 aggcaaagtt tccatgtggc cttgagcaag tcccatctca cctctaggcc tcagtgtcct
     2461 catctataaa atgagggact tccctagaag tcttcatggt ctcttccagc ccagacatcc
     2521 tgtgatgtca tgaaagcacc tgccctctgt ttcccctcag aacaccctgt accatccatg
     2581 gagcacgagg ccttcagaaa agacacttca atgggagtga acatttctaa ctaaggacag
     2641 gatggctgtg tgtggtggtc accaggtcct gtgagcaaag tgcaggttat gcaagtcgcc
     2701 aggcaggagg ccattccagg agtgggatta ttcatcaaac tctttgccca gttcatccca
     2761 atgggggaag tattcccttc tttcctactc tgggaagaat gtctcctgcc actcctcaac
     2821 tgatgataga cttcgaaaac agatgagaag actagcagct agcaagggtg cttgtggtca
     2881 cactgtggaa cactaaagag ctaggaaaga gttgagcaca ggcaacatta caaacaaagg
     2941 atttgaaaac accaagagta caggtcttct ttaaggaaga ataaaaaaga agaggttcat
     3001 ttttctggct ttttttttca cctgaaacac tttttctcga gtccaaaatc attccccccg
     3061 tgaagtctgc ttaccaaaac ataagacgac ttatatattt gaaagaagtc aaatgaatga
     3121 gctctctaat agaagtccat gagttgagtg ggtatttctt atttgaaagt gtttttcttt
     3181 aatcaaaagt ccttagaatg agggaaacaa aatatttatt tgttttggaa tcccacttat
     3241 caaatcattc aaaactttca gctggagtgg ggtttgcttt tgttttgttt gtgtccataa
     3301 gagaaatggt agaagatgaa tcagtatgaa gacactgtca atgaggttat gagaaaaaaa
     3361 cagcaggggc attagtttca ggcaaggcag ctcccaggtt tagagattaa tttttacccc
     3421 ctaaggaata tccagtcaaa gacgctgagt gggagctgtc aggcagtagc agctgtgttt
     3481 gagtttctgg ctgaaaatgg tgaagaatgg acttaattat gctaacaaac tgaaaaatct
     3541 agacatagat cctctgatat acaattagag atatttttat atagacccca agcattctgt
     3601 gcataaaagt taacattagg ctgtggtgca gtaaccattt aatgtcgagg ctctatttcg
     3661 gaaatacact acaaatgtta aagtacgtgg ctgtcctctt aagacactag tagagcaaag
     3721 acttaatcat atcaacttaa ttctgttaca caatatgtgt tttttaatat actaaccatt
     3781 tcttatggaa aggtcctgtg gggagcccat cctctcgcca agccatcaca ggctctgcat
     3841 acacatgcac tcagtgtgga ctgggaagca ttactttgta gatgtatttt caataaagaa
     3901 aaaaatagtt ttacattaa
//
