LOCUS       NM_006671               2698 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens solute carrier family 1 member 7 (SLC1A7), transcript
            variant 4, mRNA.
ACCESSION   NM_006671
VERSION     NM_006671.6
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 2698)
  AUTHORS   Lee,A., Balcar,V.J., McCombe,P. and Pow,D.V.
  TITLE     Human brain neurons express a novel splice variant of excitatory
            amino acid transporter 5 (hEAAT5v)
  JOURNAL   J Comp Neurol 528 (17), 3134-3142 (2020)
   PUBMED   32173860
  REMARK    GeneRIF: Human brain neurons express a novel splice variant of
            excitatory amino acid transporter 5 (hEAAT5v).
REFERENCE   2  (bases 1 to 2698)
  AUTHORS   Melville,S.A., Buros,J., Parrado,A.R., Vardarajan,B., Logue,M.W.,
            Shen,L., Risacher,S.L., Kim,S., Jun,G., DeCarli,C., Lunetta,K.L.,
            Baldwin,C.T., Saykin,A.J. and Farrer,L.A.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Multiple loci influencing hippocampal degeneration identified by
            genome scan
  JOURNAL   Ann Neurol 72 (1), 65-75 (2012)
   PUBMED   22745009
REFERENCE   3  (bases 1 to 2698)
  AUTHORS   Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
            Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2698)
  AUTHORS   Chung,S.A., Taylor,K.E., Graham,R.R., Nititham,J., Lee,A.T.,
            Ortmann,W.A., Jacob,C.O., Alarcon-Riquelme,M.E., Tsao,B.P.,
            Harley,J.B., Gaffney,P.M., Moser,K.L., Petri,M., Demirci,F.Y.,
            Kamboh,M.I., Manzi,S., Gregersen,P.K., Langefeld,C.D., Behrens,T.W.
            and Criswell,L.A.
  CONSRTM   SLEGEN
  TITLE     Differential genetic associations for systemic lupus erythematosus
            based on anti-dsDNA autoantibody production
  JOURNAL   PLoS Genet 7 (3), e1001323 (2011)
   PUBMED   21408207
REFERENCE   5  (bases 1 to 2698)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 2698)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2698)
  AUTHORS   Gratacos,M., Costas,J., de Cid,R., Bayes,M., Gonzalez,J.R.,
            Baca-Garcia,E., de Diego,Y., Fernandez-Aranda,F.,
            Fernandez-Piqueras,J., Guitart,M., Martin-Santos,R., Martorell,L.,
            Menchon,J.M., Roca,M., Saiz-Ruiz,J., Sanjuan,J., Torrens,M.,
            Urretavizcaya,M., Valero,J., Vilella,E., Estivill,X. and
            Carracedo,A.
  CONSRTM   Psychiatric Genetics Network Group
  TITLE     Identification of new putative susceptibility genes for several
            psychiatric disorders by association analysis of regulatory and
            non-synonymous SNPs of 306 genes involved in neurotransmission and
            neurodevelopment
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 150B (6), 808-816 (2009)
   PUBMED   19086053
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2698)
  AUTHORS   Boehmer,C., Rajamanickam,J., Schniepp,R., Kohler,K., Wulff,P.,
            Kuhl,D., Palmada,M. and Lang,F.
  TITLE     Regulation of the excitatory amino acid transporter EAAT5 by the
            serum and glucocorticoid dependent kinases SGK1 and SGK3
  JOURNAL   Biochem Biophys Res Commun 329 (2), 738-742 (2005)
   PUBMED   15737648
  REMARK    GeneRIF: In conclusion, the kinases SGK1 and SGK3 increase EAAT5
            activity by increasing cell surface abundance of the carrier.
REFERENCE   9  (bases 1 to 2698)
  AUTHORS   Wistow,G., Bernstein,S.L., Ray,S., Wyatt,M.K., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 2698)
  AUTHORS   Arriza,J.L., Eliasof,S., Kavanaugh,M.P. and Amara,S.G.
  TITLE     Excitatory amino acid transporter 5, a retinal glutamate
            transporter coupled to a chloride conductance
  JOURNAL   Proc Natl Acad Sci U S A 94 (8), 4155-4160 (1997)
   PUBMED   9108121
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445183.19, AB593060.1, BC012119.1 and CD672672.1.
            
            On Jun 2, 2019 this sequence version replaced NM_006671.5.
            
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice site in the central coding region, compared to variant 1.
            The encoded isoform (4) is shorter, compared to isoform 1.
            
            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 :: BC017242.2, U76362.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371494.9/ ENSP00000360549.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL445183.19        189247-189252       c
            7-61                AB593060.1         1-55
            62-1175             BC012119.1         1-1114
            1176-1813           CD672672.1         7-644
            1814-2698           AL445183.19        133797-134681       c
FEATURES             Location/Qualifiers
     source          1..2698
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..2698
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /note="solute carrier family 1 member 7"
                     /db_xref="GeneID:6512"
                     /db_xref="HGNC:HGNC:10945"
                     /db_xref="MIM:604471"
     exon            1..324
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..1872
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /note="isoform 4 is encoded by transcript variant 4;
                     excitatory amino acid transporter 5 (retinal glutamate
                     transporter); solute carrier family 1 (glutamate
                     transporter), member 7"
                     /codon_start=1
                     /product="excitatory amino acid transporter 5 isoform 4"
                     /protein_id="NP_006662.3"
                     /db_xref="CCDS:CCDS574.1"
                     /db_xref="GeneID:6512"
                     /db_xref="HGNC:HGNC:10945"
                     /db_xref="MIM:604471"
                     /translation="MVPHAILARGRDVCRRNGLLILSVLSVIVGCLLGFFLRTRRLSP
                     QEISYFQFPGELLMRMLKMMILPLVVSSLMSGLASLDAKTSSRLGVLTVAYYLWTTFM
                     AVIVGIFMVSIIHPGSAAQKETTEQSGKPIMSSADALLDLIRNMFPANLVEATFKQYR
                     TKTTPVVKSPKVAPEEAPPRRILIYGVQEENGSHVQNFALDLTPPPEVVYKSEPGTSD
                     GMNVLGIVFFSATMGIMLGRMGDSGAPLVSFCQCLNESVMKIVAVAVWYFPFGIVFLI
                     AGKILEMDDPRAVGKKLGFYSVTVVCGLVLHGLFILPLLYFFITKKNPIVFIRGILQA
                     LLIALATSSSSATLPITFKCLLENNHIDRRIARFVLPVGATINMDGTALYEAVAAIFI
                     AQVNNYELDFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAV
                     DWALDRFRTMINVLGDALAAGIMAHICRKDFARDTGTEKLLPCETKPVSLQEIVAAQQ
                     NGCVKSVAEASELTLGPTCPHHVPVQVEQDEELPAASLNHCTIQISELETNV"
     exon            325..404
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            405..620
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            621..663
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            664..886
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            887..986
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1220
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1415
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..1550
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1653
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1654..2698
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2677..2682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /note="hexamer: AATAAA"
     polyA_site      2698
                     /gene="SLC1A7"
                     /gene_synonym="AAAT; EAAT5"
                     /note="major polyA site"
ORIGIN      
        1 ggtaatagga ttgtggcttc cctctaaggc ggccacacgg gcatggccgt ggggctggcg
       61 actggtgttt agcaactccg accacctgcc tgctgagggg ctagagccct cagcccagac
      121 cctgtgcccc cggccgggct ctcatgcgtg gaatggtgct gtgccccttg ccagcaggcc
      181 aggctcacca tggtgccgca tgccatcttg gcacggggga gggacgtgtg caggcggaat
      241 ggactcctca tcctgtctgt gctgtctgtc atcgtgggct gcctcctcgg cttcttcttg
      301 aggacccggc gcctctcacc acaggaaatt agttacttcc agttccctgg agagctcctg
      361 atgaggatgc tgaagatgat gatcctgcca ctggtggtct ccagcttgat gtccggactt
      421 gcctccctgg atgccaagac ctctagccgc ctgggcgtcc tcaccgtggc gtactacctg
      481 tggaccacct tcatggctgt catcgtgggc atcttcatgg tctccatcat ccacccaggc
      541 agcgcggccc agaaggagac cacggagcag agtgggaagc ccatcatgag ctcagccgat
      601 gccctgttgg acctcatccg gaacatgttc ccagccaacc tagtagaagc cacattcaaa
      661 cagtaccgca ccaagaccac cccagttgtc aagtccccca aggtggcacc agaggaggcc
      721 cctcctcggc ggatcctcat ctacggggtc caggaggaga atggctccca tgtgcagaac
      781 ttcgccctgg acctgacccc gccgcccgag gtcgtttaca agtcagagcc gggcaccagc
      841 gatggcatga atgtgctggg catcgtcttc ttctctgcca ccatgggcat catgctgggc
      901 cgcatgggtg acagcggggc ccccctggtc agcttctgcc agtgcctcaa tgagtcggtc
      961 atgaagatcg tggcggtggc tgtgtggtat ttccccttcg gcattgtgtt cctcattgcg
     1021 ggtaagatcc tggagatgga cgaccccagg gccgtcggca agaagctggg cttctactca
     1081 gtcaccgtgg tgtgcgggct ggtgctccac gggctcttta tcctgcccct gctctacttc
     1141 ttcatcacca agaagaatcc catcgtcttc atccgtggca tcctgcaggc tctgctcatc
     1201 gcgctggcca cctcctccag ctcagccaca ctgcccatca ccttcaagtg cctgctggag
     1261 aacaaccaca tcgaccggcg catcgctcgc ttcgtgctgc ccgtgggtgc caccatcaac
     1321 atggacggca ctgcgctcta cgaggctgtg gccgccatct tcatcgccca ggtcaacaac
     1381 tacgagctgg actttggcca gatcatcacc atcagtatca cagccactgc agccagcatt
     1441 ggggcagctg gcatccccca ggccggcctc gtcaccatgg tcatcgtgct cacctccgtg
     1501 ggactgccca ccgatgacat caccctcatc attgccgttg actgggctct ggaccgtttc
     1561 cgcaccatga ttaacgtgct gggtgatgcg ctggcagcgg ggatcatggc ccatatatgt
     1621 cggaaggatt ttgcccggga cacaggcacc gagaaactgc tgccctgcga gaccaagcca
     1681 gtgagcctcc aggagatcgt ggcagcccag cagaatggct gtgtgaagag tgtagccgag
     1741 gcctccgagc tcaccctggg ccccacctgc ccccaccacg tccccgttca agtggagcag
     1801 gatgaggagc tgcccgctgc gagtctgaac cactgcacca tccagatcag tgagctggag
     1861 accaatgtct gagcctgcgg agctgcaggg gcaggcgagg cctccagggg cagggtcctg
     1921 aggcaggaac tcgactctcc aaccctcctg agcagccggc aggggccagg atcacacatt
     1981 cttctcaccc ttgagaggct ggaattaacc ccgcttgacg gaaaatgtat ctcagagaag
     2041 ggaaaggctg catgggggag ccccatctag ggagtgatgg gcccggcatt gcctgaggcc
     2101 ccgctgtgac agtttccccg gtgtgagccc ggtgagggcg gcaggcaggg gttatccggc
     2161 cccactttct ggatgacaga cttgaggctc tgagagctga aaacacttgt ccaaggtctc
     2221 acgttaaggt caagacacta actcaaatct ttcaagcccc gcctctcctc ttggaggaca
     2281 gggcagcctg cagctgtgtc caggcccagg ccccacccca taacaggtgg cctcagccac
     2341 acagttctcc ccaaggggag cagcccaggg ccaagccccg ctgccttccc caggccacag
     2401 tgcgtccagt ctcctgtcct gccacgtgtc ttttgcaaag ctccttggat gtggagacag
     2461 atgtctttac tagagctgaa aggccccctt gacacatcca ggccaacctc ccatggaata
     2521 ggtaggcaag ccaggactcc gggaaggagg tgcagccagg atgctctggt ggagctgccg
     2581 atggggccct ggtgtcagaa ctccccaaag gcctgtgcgt ccaagtggag tcaggttttc
     2641 tattcctttc tgtgtttgca aattcagtgt taactaaata aaggtatttt gtttttca
//
