LOCUS       NM_014229               4249 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 6 member 11 (SLC6A11),
            transcript variant 1, mRNA.
ACCESSION   NM_014229
VERSION     NM_014229.3
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 4249)
  AUTHORS   Salcedo,C., Wagner,A., Andersen,J.V., Vinten,K.T.,
            Waagepetersen,H.S., Schousboe,A., Freude,K.K. and Aldana,B.I.
  TITLE     Downregulation of GABA Transporter 3 (GAT3) is Associated with
            Deficient Oxidative GABA Metabolism in Human Induced Pluripotent
            Stem Cell-Derived Astrocytes in Alzheimer's Disease
  JOURNAL   Neurochem Res 46 (10), 2676-2686 (2021)
   PUBMED   33710537
  REMARK    GeneRIF: Downregulation of GABA Transporter 3 (GAT3) is Associated
            with Deficient Oxidative GABA Metabolism in Human Induced
            Pluripotent Stem Cell-Derived Astrocytes in Alzheimer's Disease.
REFERENCE   2  (bases 1 to 4249)
  AUTHORS   Schijns,O.E., Bisschop,J., Rijkers,K., Dings,J., Vanherle,S.,
            Lindsey,P., Smeets,H.J. and Hoogland,G.
  TITLE     GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are
            associated with febrile seizures and temporal lobe epilepsy
  JOURNAL   Epileptic Disord 22 (2), 176-182 (2020)
   PUBMED   32301730
  REMARK    GeneRIF: GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are
            associated with febrile seizures and temporal lobe epilepsy.
REFERENCE   3  (bases 1 to 4249)
  AUTHORS   Igarashi,M., Mizuno,K., Kon,M., Narumi,S., Kojima,Y., Hayashi,Y.,
            Ogata,T. and Fukami,M.
  TITLE     GATA4 mutations are uncommon in patients with 46,XY disorders of
            sex development without heart anomaly
  JOURNAL   Asian J Androl 20 (6), 629-631 (2018)
   PUBMED   29735817
  REMARK    GeneRIF: we performed GATA4 mutation screening for 119 patients
            with 46, XY DSD without heart anomalies
REFERENCE   4  (bases 1 to 4249)
  AUTHORS   Augier,E., Barbier,E., Dulman,R.S., Licheri,V., Augier,G., Domi,E.,
            Barchiesi,R., Farris,S., Natt,D., Mayfield,R.D., Adermark,L. and
            Heilig,M.
  TITLE     A molecular mechanism for choosing alcohol over an alternative
            reward
  JOURNAL   Science 360 (6395), 1321-1326 (2018)
   PUBMED   29930131
  REMARK    GeneRIF: GAT-3 expression was selectively decreased in the central
            amygdala of alcohol-dependent people compared to those who died of
            unrelated causes.
REFERENCE   5  (bases 1 to 4249)
  AUTHORS   Tachikawa,M., Yashiki,A., Akanuma,S.I., Matsukawa,H., Ide,S.,
            Minami,M. and Hosoya,K.I.
  TITLE     Astrocytic gamma-aminobutyric acid (GABA) transporters mediate
            guanidinoacetate transport in rat brain
  JOURNAL   Neurochem Int 113, 1-7 (2018)
   PUBMED   29175673
REFERENCE   6  (bases 1 to 4249)
  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   7  (bases 1 to 4249)
  AUTHORS   Pallo,A., Simon,A., Bencsura,A., Heja,L. and Kardos,J.
  TITLE     Substrate-Na+ complex formation: coupling mechanism for
            gamma-aminobutyrate symporters
  JOURNAL   Biochem Biophys Res Commun 385 (2), 210-214 (2009)
   PUBMED   19450549
  REMARK    GeneRIF: homology models of hGAT-2 and hGAT-3 were built and
            searched for (i) substrate conformation, (ii) prediction of
            substrate (inhibitor) interaction, and (iii) distinguishable
            allosteric Zn2+ inhibition by combining docking and MD
            calculations.
REFERENCE   8  (bases 1 to 4249)
  AUTHORS   Inada,T., Koga,M., Ishiguro,H., Horiuchi,Y., Syu,A., Yoshio,T.,
            Takahashi,N., Ozaki,N. and Arinami,T.
  TITLE     Pathway-based association analysis of genome-wide screening data
            suggest that genes associated with the gamma-aminobutyric acid
            receptor signaling pathway are involved in neuroleptic-induced,
            treatment-resistant tardive dyskinesia
  JOURNAL   Pharmacogenet Genomics 18 (4), 317-323 (2008)
   PUBMED   18334916
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 4249)
  AUTHORS   Borden,L.A., Dhar,T.G., Smith,K.E., Branchek,T.A., Gluchowski,C.
            and Weinshank,R.L.
  TITLE     Cloning of the human homologue of the GABA transporter GAT-3 and
            identification of a novel inhibitor with selectivity for this site
  JOURNAL   Recept Channels 2 (3), 207-213 (1994)
   PUBMED   7874447
REFERENCE   10 (bases 1 to 4249)
  AUTHORS   Borden,L.A., Smith,K.E., Hartig,P.R., Branchek,T.A. and
            Weinshank,R.L.
  TITLE     Molecular heterogeneity of the gamma-aminobutyric acid (GABA)
            transport system. Cloning of two novel high affinity GABA
            transporters from rat brain
  JOURNAL   J Biol Chem 267 (29), 21098-21104 (1992)
   PUBMED   1400419
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312719.1, S75989.1 and
            AC027128.5.
            
            On Nov 23, 2018 this sequence version replaced NM_014229.2.
            
            Summary: The protein encoded by this gene is a sodium-dependent
            transporter that uptakes gamma-aminobutyric acid (GABA), an
            inhibitory neurotransmitter, which ends the GABA neurotransmission.
            Defects in this gene may result in epilepsy, behavioral problems,
            or intellectual problems. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1803611.95231.1,
                                           SRR1660805.106438.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254488.7/ ENSP00000254488.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AK312719.1         29-32
            5-1995              S75989.1           1-1991
            1996-4249           AC027128.5         166737-168990
FEATURES             Location/Qualifiers
     source          1..4249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..4249
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /note="solute carrier family 6 member 11"
                     /db_xref="GeneID:6538"
                     /db_xref="HGNC:HGNC:11044"
                     /db_xref="MIM:607952"
     exon            1..294
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1937
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sodium- and chloride-dependent GABA transporter 3; solute
                     carrier family 6 (neurotransmitter transporter, GABA),
                     member 11; solute carrier family 6 (neurotransmitter
                     transporter), member 11"
                     /codon_start=1
                     /product="sodium- and chloride-dependent GABA transporter
                     3 isoform 1"
                     /protein_id="NP_055044.1"
                     /db_xref="CCDS:CCDS2602.1"
                     /db_xref="GeneID:6538"
                     /db_xref="HGNC:HGNC:11044"
                     /db_xref="MIM:607952"
                     /translation="MTAEKALPLGNGKAAEEARESEAPGGGCSSGGAAPARHPRVKRD
                     KAVHERGHWNNKVEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFLIPYVVFFICCGIP
                     VFFLETALGQFTSEGGITCWRKVCPLFEGIGYATQVIEAHLNVYYIIILAWAIFYLSN
                     CFTTELPWATCGHEWNTENCVEFQKLNVSNYSHVSLQNATSPVMEFWEHRVLAISDGI
                     EHIGNLRWELALCLLAAWTICYFCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLP
                     GASEGIKFYLYPDLSRLSDPQVWVDAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDC
                     IMLCCLNSGTSFVAGFAIFSVLGFMAYEQGVPIAEVAESGPGLAFIAYPKAVTMMPLS
                     PLWATLFFMMLIFLGLDSQFVCVESLVTAVVDMYPKVFRRGYRRELLILALSVISYFL
                     GLVMLTEGGMYIFQLFDSYAASGMCLLFVAIFECICIGWVYGSNRFYDNIEDMIGYRP
                     PSLIKWCWMIMTPGICAGIFIFFLIKYKPLKYNNIYTYPAWGYGIGWLMALSSMLCIP
                     LWICITVWKTEGTLPEKLQKLTTPSTDLKMRGKLGVSPRMVTVNDCDAKLKSDGTIAA
                     ITEKETHF"
     exon            295..429
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            430..570
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            571..661
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            662..794
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            795..929
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1033
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1158
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1271
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1409
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1512
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1613
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1614..1784
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..4249
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2742
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /note="major polyA site"
     regulatory      4230..4235
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /note="hexamer: ATTAAA"
     polyA_site      4249
                     /gene="SLC6A11"
                     /gene_synonym="GAT-3; GAT3; GAT4"
                     /note="major polyA site"
ORIGIN      
        1 gcagagccgg gccggcgcac gaggcagcca gcgcggccat gacggcggag aaggcgctgc
       61 ccctgggcaa tgggaaggct gctgaggagg cgcgggagtc cgaggcgccg ggtggcggct
      121 gcagcagcgg gggcgcggcg cccgcgcgcc acccgcgcgt caagcgcgac aaggcggtcc
      181 acgagcgcgg ccactggaac aacaaggtgg agttcgtgct gagcgtggcc ggggagatca
      241 ttgggctggg caacgtgtgg cgcttcccct acctgtgcta caagaacgga ggaggggcat
      301 tcctgattcc ctacgtggtg ttttttattt gctgtggaat tcctgttttt ttcctggaga
      361 cagctctggg gcagttcaca agtgaaggtg gcattacgtg ttggaggaaa gtttgccctt
      421 tatttgaagg cattggctat gcaacacagg tgattgaggc ccatctgaat gtgtactaca
      481 tcatcatcct ggcatgggcc attttttacc tgagcaactg cttcactact gagctaccct
      541 gggctacctg tgggcatgag tggaacacag agaattgtgt ggagttccag aaactgaatg
      601 tgagcaacta cagccatgtg tctctgcaga atgccacctc ccctgtcatg gagttttggg
      661 agcaccgggt cctggccatc tctgacggga tcgagcacat cgggaacctt cgctgggagc
      721 tggccttgtg tctcttggca gcctggacca tctgttactt ctgtatctgg aaggggacca
      781 agtctacagg aaaggttgta tacgtgactg cgacattccc ctacatcatg ctgctgatcc
      841 tcctgatacg aggggtcacg ttgcccgggg cctcagaggg catcaagttc tacttgtacc
      901 ctgacctctc ccggctctcc gacccccagg tctgggtaga tgctggaacg cagatctttt
      961 tctcctatgc catttgcctg ggctgtctga ccgctctggg aagttataac aattataaca
     1021 acaactgcta cagggactgc atcatgctct gttgcctgaa cagcggcacc agcttcgtgg
     1081 ctgggtttgc catcttctca gtcctgggtt ttatggcgta cgagcagggg gtacccattg
     1141 ctgaggtggc agagtcaggc cccggcctgg cctttattgc gtaccccaag gcggtcacca
     1201 tgatgcctct ctccccgctg tgggccacct tgttcttcat gatgctcatc ttcctgggcc
     1261 tggacagcca gtttgtgtgt gtggaaagcc tggtgaccgc cgtggtggac atgtacccca
     1321 aggttttccg gaggggttac cggcgggagc tgctcatcct agccttgtct gttatctcct
     1381 attttctggg cctcgtgatg ttaacagagg gtggcatgta catcttccag ctctttgact
     1441 cctatgccgc cagtgggatg tgccttctct tcgtggccat ctttgagtgc atctgcatcg
     1501 gctgggtgta tggaagcaac cggttctatg ataacattga agacatgatt ggctaccggc
     1561 caccgtcgct cattaagtgg tgctggatga tcatgacccc tgggatctgc gcggggatct
     1621 tcatcttctt cttgatcaag tacaagccac tcaagtacaa caacatctac acctacccag
     1681 cctggggcta tggcattggc tggctcatgg ccctgtcctc catgctctgc atcccgctct
     1741 ggatctgcat cacagtgtgg aagacggagg ggacactgcc cgagaaactc cagaagttga
     1801 cgacccccag cacagatctg aaaatgcggg gcaagcttgg ggtgagccca cggatggtga
     1861 cagttaatga ctgtgatgcc aaactcaaga gtgacgggac catcgcagcc atcacagaga
     1921 aggagacgca cttctgagcg gccaccagcc atctggggct cttcttcctt tcttcccccc
     1981 gtgtatgtaa atgaattcct gaaccccata cttcacctaa tggtaggggc ttgcttgttt
     2041 tgcacaggat taattaacaa gttaatttta aggtggccac tgtacactgc tctaaagtca
     2101 tatcccctcc ccgcccccag tcatcatgga agtaaccact acaaagagat aacactgtac
     2161 ggggactgcc agatcttctg tcctagggca gttttaatca atgttttcta gggattagga
     2221 agaagtgtat aatattgtaa aacttttttt actggggttg tgggccaggt ggggtgggga
     2281 gtgatggctg tcctcctctg tcggcctttt aatgaccgtt ctgtgtccca tgtatgtctc
     2341 tgaccatcca cagccgcccc tcctccatac cccagggata atttttcctt caaaccttcc
     2401 ctttccaagg gacactgggt ttgcagacag caaggctatg tggcagagaa gaaaaagtcc
     2461 agcagactca ggactcctgg gctgcaggcc cccctctgcc ctgatcccat gaagtgacct
     2521 tgggcactcc ctttccctcc ctgggcctca gtttccccat ctcccaaatg ggaggaggag
     2581 ccggattggg ttatttctta gggattctct ttgtgtgcct tgctggcttc cagacctgcc
     2641 gtggaccttg gcttcctctg aagacttgca ggcaataatc tccgccctcc cagttgtacc
     2701 tcctccccac ctgcttattt aaaatcaagt ttattgtaga aatggtgtgg tgttgatgtg
     2761 tgttttccct aaaactctaa tttcatctca tctgtgggca gccctgctct ctggacacca
     2821 gtgggtcctc agcccccatg gcaggggctc ctctgtctgg cctgcctttt tttcctggtc
     2881 agctgctctt agcgccggct ctgcctctcc acccttggca gggctggctg gagttgctgt
     2941 ggggactgat tttctgggtg gggaagcagc catctattct tgcagccatc tcagccaggg
     3001 tctatgtctt aggaccttcc tccggccttc catgagaagc agccacaggg ggcctggttt
     3061 cctcctaagg cccttctctg tcccaggcca cctcttctcc ctcctcctgt cccctaacct
     3121 ccacctacca ccatcctccc tctcagttct ctcccatcct tgcccctggt tcaggagcca
     3181 ttctacctgc ctcagtggcc aggcgcaagg ctacaggtgc agtcacctgt tcccggccac
     3241 cttccctccc atctttggca gacagaagtc tcagctctca ctagagggaa gacctgggca
     3301 tcctgctggc tcctctctcc gtggggcctg gagtctggtg ctgttcccca gccagcctgg
     3361 ctgcagacct ctctggctga taccgctctt cttctttaat tggacttcat atcaagcctc
     3421 tgccttggtt tctgagctat atgagggtgg ggaaggcaca ctcttttttc ctttttcctt
     3481 aggttcccaa tattatttgg tggaaacgtg ggctttctcc aaaccaaggc ctgagtttcc
     3541 tgtaagggtc ctctgttttt gattcaccca aaagtctgca aacccccagc atctctgctc
     3601 tggccagccc tgatctgaag cctgtgtcta ctaagaggga tgcccagtgc cccactgggc
     3661 aggacgggaa gcctagcctg ggccccctct gtgcacacag ttcaggcctg cccagcttct
     3721 tatgggcaag ccaccatccc actctcgtct ccctgagctg tctggttctg cggacccagg
     3781 aagggccagg ctggggccct gcttgtgttt atcctcggct gctgtcttcc cagcaggccc
     3841 caggcaagga ggcttcccat tgctgctgct accggttctc cacagatccc tgtggtccgc
     3901 catcgccgac acacacacac gtcgtaatgt ggctaacgct tgactcactt aacactactc
     3961 atggggcagg gcggagggtg gattgttgct ttttgttttt tgtaatttcc tactagtatt
     4021 tgggtaactt tgggggtggg gagggcaatg tgggggcagg ggaacatgtc attgtgatga
     4081 cttttttgat attcattaga aacaatacat cctttctgag atatttacag tattattaaa
     4141 aaatgaaaaa ggttgtactg ttttgcataa tgaacatttt tattgggcat tcaaagggtg
     4201 caagattgtc tgcttactca tttttaaaaa ttaaagaaat gaacaatca
//
