LOCUS       NM_005071               2420 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens solute carrier family 1 member 6 (SLC1A6), transcript
            variant 2, mRNA.
ACCESSION   NM_005071 XM_006722844
VERSION     NM_005071.3
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 2420)
  AUTHORS   Abousaab,A. and Lang,F.
  TITLE     Up-Regulation of Excitatory Amino Acid Transporters EAAT3 and EAAT4
            by Lithium Sensitive Glycogen Synthase Kinase GSK3ss
  JOURNAL   Cell Physiol Biochem 40 (5), 1252-1260 (2016)
   PUBMED   27978527
  REMARK    GeneRIF: Lithium-sensitive GSK3ss is a powerful regulator of
            excitatory amino acid transporters EAAT3 and EAAT4.
REFERENCE   2  (bases 1 to 2420)
  AUTHORS   Wilmsdorff,M.V., Blaich,C., Zink,M., Treutlein,J., Bauer,M.,
            Schulze,T., Schneider-Axmann,T., Gruber,O., Rietschel,M.,
            Schmitt,A. and Falkai,P.
  TITLE     Gene expression of glutamate transporters SLC1A1, SLC1A3 and SLC1A6
            in the cerebellar subregions of elderly schizophrenia patients and
            effects of antipsychotic treatment
  JOURNAL   World J Biol Psychiatry 14 (7), 490-499 (2013)
   PUBMED   22424243
  REMARK    GeneRIF: Decreased SLC1A6 expression in neuregulin 1 risk variant
            may be an adaptive effect to restore glutamate signalling in
            schizophrenia patients.
REFERENCE   3  (bases 1 to 2420)
  AUTHORS   Tsai,M.C., Tanaka,K., Overstreet-Wadiche,L. and Wadiche,J.I.
  TITLE     Neuronal glutamate transporters regulate glial excitatory
            transmission
  JOURNAL   J Neurosci 32 (5), 1528-1535 (2012)
   PUBMED   22302796
  REMARK    GeneRIF: A twofold difference in functional EAAT4 levels is
            sufficient to alter signaling to Bergman glia in reporter mice.
REFERENCE   4  (bases 1 to 2420)
  AUTHORS   Machtens,J.P., Kovermann,P. and Fahlke,C.
  TITLE     Substrate-dependent gating of anion channels associated with
            excitatory amino acid transporter 4
  JOURNAL   J Biol Chem 286 (27), 23780-23788 (2011)
   PUBMED   21572047
  REMARK    GeneRIF: strate-dependent gating of anion channels associated with
            excitatory amino acid transporter 4.
REFERENCE   5  (bases 1 to 2420)
  AUTHORS   Kovermann,P., Machtens,J.P., Ewers,D. and Fahlke,C.
  TITLE     A conserved aspartate determines pore properties of anion channels
            associated with excitatory amino acid transporter 4 (EAAT4)
  JOURNAL   J Biol Chem 285 (31), 23676-23686 (2010)
   PUBMED   20519505
  REMARK    GeneRIF: a conserved aspartate determines pore properties of anion
            channels associated with excitatory amino acid transporter 4
            (EAAT4)
REFERENCE   6  (bases 1 to 2420)
  AUTHORS   Deng,X., Shibata,H., Takeuchi,N., Rachi,S., Sakai,M., Ninomiya,H.,
            Iwata,N., Ozaki,N. and Fukumaki,Y.
  TITLE     Association study of polymorphisms in the glutamate transporter
            genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 144B (3), 271-278 (2007)
   PUBMED   17221839
  REMARK    GeneRIF: At least one susceptibility locus for schizophrenia may be
            located within or nearby SLC1A6.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2420)
  AUTHORS   Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
            Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
            Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
            Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
            Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
            Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
            Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
            Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
            Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
            Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
            Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
            Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
            Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
            Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
            Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
            Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
            Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
            Myers,R.M., Rubin,E.M. and Lucas,S.M.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   8  (bases 1 to 2420)
  AUTHORS   Poulsen,M.V. and Vandenberg,R.J.
  TITLE     Niflumic acid modulates uncoupled substrate-gated conductances in
            the human glutamate transporter EAAT4
  JOURNAL   J Physiol 534 (Pt 1), 159-167 (2001)
   PUBMED   11432999
REFERENCE   9  (bases 1 to 2420)
  AUTHORS   Jackson,M., Song,W., Liu,M.Y., Jin,L., Dykes-Hoberg,M., Lin,C.I.,
            Bowers,W.J., Federoff,H.J., Sternweis,P.C. and Rothstein,J.D.
  TITLE     Modulation of the neuronal glutamate transporter EAAT4 by two
            interacting proteins
  JOURNAL   Nature 410 (6824), 89-93 (2001)
   PUBMED   11242047
REFERENCE   10 (bases 1 to 2420)
  AUTHORS   Fairman,W.A., Vandenberg,R.J., Arriza,J.L., Kavanaugh,M.P. and
            Amara,S.G.
  TITLE     An excitatory amino-acid transporter with properties of a
            ligand-gated chloride channel
  JOURNAL   Nature 375 (6532), 599-603 (1995)
   PUBMED   7791878
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004659.1.
            
            On or before Jun 26, 2020 this sequence version replaced
            XM_006722844.1, NM_005071.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and its
            transcription extends past a splice site that is used in variant 1,
            resulting in a novel 3' coding region and 3' UTR compared to
            variant 1. It encodes isoform 2 which is longer and has a distinct
            C-terminus, compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            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 :: SRR14038192.1564371.1,
                                           SRR14038194.2080588.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000594383.2/ ENSP00000472133.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-556               AC004659.1         75612-76167         c
            557-768             AC004659.1         69009-69220         c
            769-906             AC004659.1         68040-68177         c
            907-1111            AC004659.1         64606-64810         c
            1112-1154           AC004659.1         60622-60664         c
            1155-1498           AC004659.1         58305-58648         c
            1499-1732           AC004659.1         52779-53012         c
            1733-1927           AC004659.1         50438-50632         c
            1928-2062           AC004659.1         49231-49365         c
            2063-2420           AC004659.1         46336-46693         c
FEATURES             Location/Qualifiers
     source          1..2420
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..2420
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /note="solute carrier family 1 member 6"
                     /db_xref="GeneID:6511"
                     /db_xref="HGNC:HGNC:10944"
                     /db_xref="MIM:600637"
     exon            1..556
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            557..768
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             564..2258
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     excitatory amino acid transporter 4; sodium-dependent
                     glutamate/aspartate transporter; solute carrier family 1
                     (high affinity aspartate/glutamate transporter), member 6"
                     /codon_start=1
                     /product="excitatory amino acid transporter 4 isoform 2"
                     /protein_id="NP_005062.1"
                     /db_xref="CCDS:CCDS12321.1"
                     /db_xref="GeneID:6511"
                     /db_xref="HGNC:HGNC:10944"
                     /db_xref="MIM:600637"
                     /translation="MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTM
                     TLEHVLRFLRRNAFILLTVSAVVIGVSLAFALRPYQLTYRQIKYFSFPGELLMRMLQM
                     LVLPLIVSSLVTGMASLDNKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSK
                     EGLHREGRIETIPTADAFMDLIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGS
                     EPGASMPPPFSVENGTSFLENVTRALGTLQEMLSFEETVPVPGSANGINALGLVVFSV
                     AFGLVIGGMKHKGRVLRDFFDSLNEAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAV
                     LGGQLGMYTLTVIVGLFLHAGIVLPLIYFLVTHRNPFPFIGGMLQALITAMGTSSSSA
                     TLPITFRCLEEGLGVDRRITRFVLPVGATVNMDGTALYEALAAIFIAQVNNYELNLGQ
                     ITTISITATAASVGAAGIPQAGLVTMVIVLTSVGLPTEDITLIIAVDWFLDRLRTMTN
                     VLGDSIGAAVIEHLSQRELELQEAELTLPSLGKPYKSLMAQEKGASRGRGGNESAM"
     exon            769..906
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1111
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1154
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1498
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1732
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..1927
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1928..2062
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..2420
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2396..2401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /note="hexamer: AATAAA"
     polyA_site      2420
                     /gene="SLC1A6"
                     /gene_synonym="EAAT4"
                     /note="major polyA site"
ORIGIN      
        1 agtccccctc ccttcgcaag cacgctgtcc cccttctccc acacggctgc ggagcctggg
       61 ctgggcgcgg gggaggcgga gggcatcgcg gaggggatcc cgccccctcc cccggccgct
      121 cggtgccccc acacccacgt gagcgcaggg ccggcccgga tccctcccgc agcatagcgc
      181 gtcccggctc cgcgccggtg cctccacggt ccggtccccg cgccggtgct gcacagtccc
      241 tggcgggtcc ccgcggcccc ggccgggcgc ttcgccgggc tccggctcct gcatccgggc
      301 gcagcgcgca ggccgaggcg cgggcaggcc gcccccgccg ctccggacgc cggtgagtgg
      361 ggactccgcg gctcggcgcg gggactcggt gtggctgcgg cgcggaggtt gcgggcaggt
      421 gggggatccg aggcgctggg gtcaggcgtg tggggcgctc cctgcgccca cgtccccact
      481 tctccgccgc cctttgtctc tgagctcctg cttgcccctt agagccgttg ccaccgcttt
      541 tctcctggtc gttctgatag accatgagca gccatggcaa cagcctgttc ctgcgggaga
      601 gcggccagcg gctgggccgg gtgggctggc tgcagcggct gcaggaaagc ctgcagcaga
      661 gagcactgcg cacgcgcctg cgcctgcaga ccatgaccct cgagcacgtg ctgcgcttcc
      721 tgcgccgaaa cgccttcatt ctgctgacgg tcagcgccgt ggtcattggg gtcagcctgg
      781 cctttgccct gcgcccatat cagctcacct accgccagat caagtacttc tcttttcctg
      841 gagagcttct gatgaggatg ctgcagatgc tggtgttacc tctcattgtc tccagcctgg
      901 tcacaggtat ggcatccctg gacaacaagg ccacggggcg gatggggatg cgggcagctg
      961 tgtactacat ggtgaccacc atcatcgcgg tcttcatcgg catcctcatg gtcaccatca
     1021 tccatcccgg gaagggctcc aaggaggggc tgcaccggga gggccggatc gagaccatcc
     1081 ccacagctga tgccttcatg gacctgatca gaaatatgtt tccaccaaac cttgtggagg
     1141 cctgcttcaa acagttcaag acgcagtaca gcacgagggt ggtaaccagg accatggtga
     1201 ggacagagaa cgggtctgag ccgggtgcct ccatgcctcc tccattctca gtggagaacg
     1261 gaaccagctt cctggaaaat gtcactcggg ccttgggtac cctgcaggag atgctgagct
     1321 ttgaggagac tgtacccgtg cctggctccg ccaatggcat caacgccctg ggcctcgtgg
     1381 tcttctctgt ggcctttggg ctggtcattg gtggcatgaa acacaagggc agagtcctca
     1441 gggacttctt cgacagcctc aatgaggcta ttatgaggct ggtgggcatc attatctggt
     1501 atgcacctgt gggcatcctg ttcctgattg ctgggaagat tctggagatg gaagacatgg
     1561 ccgtcctggg gggtcagctg ggcatgtaca ccctgaccgt catcgtgggc ctgttcctcc
     1621 atgccggcat tgtccttccc ctcatctact tcctcgtcac tcaccggaac cccttcccct
     1681 tcattggggg catgctacaa gccctcatca ccgctatggg cacgtcttcc agctcggcaa
     1741 cgctgcccat caccttccgc tgcctggagg agggcctggg tgtggaccgc cgcatcacca
     1801 ggttcgtcct gcccgtgggc gccacggtca acatggatgg cactgccctc tacgaggccc
     1861 tggctgccat cttcattgct caagttaaca actacgagct caacctgggt cagatcacaa
     1921 ccatcagcat cacggccaca gcagccagtg ttggggctgc tggcatcccc caggcgggtc
     1981 tggtcaccat ggtcattgtg cttacgtcgg tcggcttgcc cacggaagac atcacgctca
     2041 tcattgccgt ggactggttc cttgaccggc ttcgcacaat gaccaacgta ctgggggact
     2101 caattggagc ggccgtcatc gagcacttgt ctcagcggga gctggagctt caggaagctg
     2161 agcttaccct ccccagcctg gggaaaccct acaagtccct catggcacag gagaaggggg
     2221 catcccgggg acggggaggc aacgagagtg ctatgtgagg ggcctccagc tctgcccccc
     2281 cagagaggag ggaagggggc tggggagggg agtcctggtg acacatctgt tgcccaactg
     2341 accgtgggct gaacacacgt tctgcttgac tcatttaggg gggagggaaa agtgaaataa
     2401 aggagcagga atgaaaggta
//
