LOCUS       NM_001122847            3166 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens solute carrier family 6 member 12 (SLC6A12),
            transcript variant 2, mRNA.
ACCESSION   NM_001122847
VERSION     NM_001122847.3
KEYWORDS    RefSeq.
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 3166)
  AUTHORS   Peng,H., Wu,L., Chen,S., Wu,S., Shi,X., Ma,J., Yang,H. and Li,X.
  TITLE     Overexpression of solute carrier family 6 member 12 promotes cell
            injury in Parkinson's disease via MAPK signaling pathway
  JOURNAL   Exp Gerontol 194, 112484 (2024)
   PUBMED   38871234
  REMARK    GeneRIF: Overexpression of solute carrier family 6 member 12
            promotes cell injury in Parkinson's disease via MAPK signaling
            pathway.
REFERENCE   2  (bases 1 to 3166)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3166)
  AUTHORS   Manzoor,U. and Dar,T.A.
  TITLE     Protein kinases as regulators of osmolyte accumulation under stress
            conditions: An overview
  JOURNAL   Front Biosci (Landmark Ed) 25 (7), 1386-1411 (2020)
   PUBMED   32114438
  REMARK    GeneRIF: Protein kinases as regulators of osmolyte accumulation
            under stress conditions: An overview.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3166)
  AUTHORS   Kickinger,S., Hellsberg,E., Frolund,B., Schousboe,A., Ecker,G.F.
            and Wellendorph,P.
  TITLE     Structural and molecular aspects of betaine-GABA transporter 1
            (BGT1) and its relation to brain function
  JOURNAL   Neuropharmacology 161, 107644 (2019)
   PUBMED   31108110
  REMARK    GeneRIF: This review gathers the current structural and functional
            knowledge on BGT1 with emphasis on brain relevance, discusses all
            available compounds, and tries to shed light on the molecular
            determinants driving BGT1 selectivity--{REVIEW}
            Review article
REFERENCE   5  (bases 1 to 3166)
  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 3166)
  AUTHORS   Rainesalo,S., Keranen,T., Saransaari,P. and Honkaniemi,J.
  TITLE     GABA and glutamate transporters are expressed in human platelets
  JOURNAL   Brain Res Mol Brain Res 141 (2), 161-165 (2005)
   PUBMED   16198020
  REMARK    GeneRIF: BGT-1 is expressed from mRNA and transports GABA in
            platelets.
REFERENCE   7  (bases 1 to 3166)
  AUTHORS   Ruiz-Tachiquin,M.E., Sanchez-Lemus,E., Soria-Jasso,L.E.,
            Arias-Montano,J.A. and Ortega,A.
  TITLE     Gamma-aminobutyric acid transporter (BGT-1) expressed in human
            astrocytoma U373 MG cells: pharmacological and molecular
            characterization and phorbol ester-induced inhibition
  JOURNAL   J Neurosci Res 69 (1), 125-132 (2002)
   PUBMED   12111824
  REMARK    GeneRIF: The primary structure of BGT-1 predicts two putative
            phosphorylation sites for the Ca2+/diacylglycerol-dependent protein
            kinase (PKC), which regulates BGT-1 function by phosphorylation
            events in a transport system expressed in cultured astrocytoma
            cells.
REFERENCE   8  (bases 1 to 3166)
  AUTHORS   Perego,C., Vanoni,C., Villa,A., Longhi,R., Kaech,S.M., Frohli,E.,
            Hajnal,A., Kim,S.K. and Pietrini,G.
  TITLE     PDZ-mediated interactions retain the epithelial GABA transporter on
            the basolateral surface of polarized epithelial cells
  JOURNAL   EMBO J 18 (9), 2384-2393 (1999)
   PUBMED   10228153
REFERENCE   9  (bases 1 to 3166)
  AUTHORS   Rasola,A., Galietta,L.J., Barone,V., Romeo,G. and Bagnasco,S.
  TITLE     Molecular cloning and functional characterization of a GABA/betaine
            transporter from human kidney
  JOURNAL   FEBS Lett 373 (3), 229-233 (1995)
   PUBMED   7589472
REFERENCE   10 (bases 1 to 3166)
  AUTHORS   Borden,L.A., Smith,K.E., Gustafson,E.L., Branchek,T.A. and
            Weinshank,R.L.
  TITLE     Cloning and expression of a betaine/GABA transporter from human
            brain
  JOURNAL   J Neurochem 64 (3), 977-984 (1995)
   PUBMED   7861179
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007406.1, DA093632.1 and BC036838.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001122847.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
            
            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 :: SRR1803614.67776.1,
                                           SRR1660803.129155.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC007406.1         40621-40625         c
            6-138               DA093632.1         1-133
            139-780             BC036838.1         1-642
            781-781             AC007406.1         29706-29706         c
            782-1768            BC036838.1         644-1630
            1769-1769           AC007406.1         20295-20295         c
            1770-3163           BC036838.1         1631-3024
            3164-3166           AC007406.1         17004-17006         c
FEATURES             Location/Qualifiers
     source          1..3166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     gene            1..3166
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /note="solute carrier family 6 member 12"
                     /db_xref="GeneID:6539"
                     /db_xref="HGNC:HGNC:11045"
                     /db_xref="MIM:603080"
     exon            1..192
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            193..277
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            278..548
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             335..2179
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /note="gamma-aminobutyric acid transporter; Na(+)/Cl(-)
                     betaine/GABA transporter; solute carrier family 6
                     (neurotransmitter transporter, betaine/GABA), member 12;
                     betaine/GABA transporter-1; solute carrier family 6
                     (neurotransmitter transporter), member 12"
                     /codon_start=1
                     /product="sodium- and chloride-dependent betaine
                     transporter"
                     /protein_id="NP_001116319.1"
                     /db_xref="CCDS:CCDS8501.1"
                     /db_xref="GeneID:6539"
                     /db_xref="HGNC:HGNC:11045"
                     /db_xref="MIM:603080"
                     /translation="MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKME
                     FVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQ
                     GSVTAWRKICPLFQGIGLASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNF
                     WNTEHCTDFLNHSGAGTVTPFENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLL
                     LAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLF
                     RLKDPQVWMDAGTQIFFSFAICQGCLTALGSYNKYHNNCYKDCIALCFLNSATSFVAG
                     FVVFSILGFMSQEQGVPISEVAESGPGLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLG
                     LDSQFVCVECLVTASIDMFPRQLRKSGRRELLILTIAVMCYLIGLFLVTEGGMYIFQL
                     FDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPLVKISWLFLTPGL
                     CLATFLFSLSKYTPLKYNNVYVYPPWGYSIGWFLALSSMVCVPLFVVITLLKTRGPFR
                     KRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSPTREGLIAGEKETHL"
     exon            549..683
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            684..824
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            825..912
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1045
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1180
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1284
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1409
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1522
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1660
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1763
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..1864
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1865..2035
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2036..3166
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3141..3146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /note="hexamer: AACAAG"
     polyA_site      3166
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /note="major polyA site"
ORIGIN      
        1 agctcagtga ttagcctgtg gagcaggaaa gtccagcgat gggcagctgg tcacggcagt
       61 gggtgaaagc aggggtggtc atctgacgag gggaggggaa gcaggtggtg cccagcaagg
      121 tggaaggaga agtggacagg agaaacctcg gggcattccc gagggcccag gaactgcaat
      181 aaatgatcac agggaaactt agagttcaga gagggggtgt gatttgcctg aggtcacaca
      241 gcaagttaga gacccagctc cacgactcat tgtcttggct ttggccctcg tcatcctgcc
      301 cacccagcgg ggcttcccaa cccaccacac agccatggac gggaaggtgg cagtgcaaga
      361 gtgtgggcct cctgcagtct cctgggtccc cgaggaggga gagaagttgg accaggaaga
      421 cgaggaccag gtgaaggatc ggggccaatg gaccaacaag atggagtttg tgctgtcagt
      481 ggccggggag atcattgggc tgggcaatgt ctggaggttt ccctatctct gctacaaaaa
      541 cggaggtgga gccttcttca tcccctactt catcttcttc tttgtctgcg gcatcccggt
      601 gttcttcctg gaggtggcgt tgggccaata caccagccaa gggagtgtca cagcctggag
      661 gaagatctgc cccctcttcc agggcattgg tctggcatct gtggtcatcg agtcatattt
      721 gaatgtctac tacatcatca tccttgcctg ggctctcttc tacctgttca gctccttcac
      781 ttctgagctg ccctggacga cctgcaacaa cttttggaac acagagcatt gcacggactt
      841 tctgaaccac tcaggagccg gcacagtgac cccatttgag aattttacct cacctgtcat
      901 ggaattctgg gagagacgag ttctgggcat cacctcgggc atccatgacc tgggctccct
      961 gcgctgggag ctggccctgt gcctcctgct cgcctgggtc atctgctatt tctgcatctg
     1021 gaagggggtc aagtccacag gcaaggtggt ttatttcaca gccacgtttc cgtacctgat
     1081 gcttgtcatt ttgctgatca gaggtgtcac ccttcccgga gcctaccagg gcatcatcta
     1141 ctacttgaag ccagatttgt tccgcctcaa ggaccctcag gtgtggatgg atgcgggcac
     1201 ccagatcttc ttctcctttg ccatctgcca ggggtgcctg acagccctgg gcagctacaa
     1261 caagtatcac aacaactgct acaaggactg catcgccctc tgcttcctga acagtgccac
     1321 cagctttgtg gctgggtttg ttgtcttctc catcctgggc ttcatgtccc aagagcaagg
     1381 ggtgcccatt tctgaagtgg ccgagtcagg tcctgggctg gccttcatcg ccttccccaa
     1441 ggctgtgact atgatgccct tatcccagct gtggtcctgc ctgttcttta tcatgctcat
     1501 attcctaggg ctggacagcc agtttgtctg tgtggagtgc ctggtgacag cctccataga
     1561 catgttcccc aggcagctcc ggaagagcgg gcggcgcgag ctcctcatcc tcaccatcgc
     1621 cgtcatgtgc tacctgatag ggcttttcct ggtcaccgag ggcgggatgt acatcttcca
     1681 gctgtttgac tactatgctt ccagtggcat atgcctgctg ttcctgtcat tgtttgaagt
     1741 ggtctgcata agctgggtgt atggggcgga ccgtttctat gacaacattg aggacatgat
     1801 tggctaccgg ccatggcccc tggtgaagat ctcctggctc ttcctgaccc ctggactttg
     1861 cctggccact ttcctcttct ccttgagcaa gtacaccccc ctcaagtaca acaacgtcta
     1921 tgtgtacccg ccctggggat actccattgg ctggttcctg gctctgtcct ccatggtctg
     1981 tgtcccactc ttcgtcgtca tcaccctcct gaagactcgg ggtcctttca ggaagcgtct
     2041 gcgtcagctc atcacccctg actccagtct gccacagccc aagcaacatc cctgcttgga
     2101 tggcagtgct ggccggaact ttgggccctc cccaacaagg gaaggactga tagccgggga
     2161 gaaggagacc catttgtagg gtgtggccag aggccaggcg gctcctaagc cgggaaccta
     2221 ggtcagggcc accctccatt ctcagcggac agcctctgcc tctgtctcct gccacaatcc
     2281 tgctgggaac ctctggagag ccacaggcac ccccagctgg aggccagact cctctcttgt
     2341 gctagctgga gcagctcctt cccctttgct gataacacca ccactgggac gtgccatgtt
     2401 gggacgccac tccctgtggg aaggcaccat cgtttttata aaggggggtc tttttggagg
     2461 ccgccatctg attgcaacac ctcgagttat gaggattcca ctgtggggat gcctcttgtt
     2521 agagcgtact gcatttgtac acggggagag gagctataat tggaacgcac actgccgtcc
     2581 aatgtggaga gcctgatggg acaataccct gttggaagtg acaactgaac acactgtgtt
     2641 ggatcggagg ttccgttagg ggatccttcc ttaggcttaa cgacagaggc aagcctttgc
     2701 atgccgtcag tctggagttt cctccgagtc tctcatggca tctccagctc ctgccctagt
     2761 tccgcactgt tcttgcagtg tttcatcaac tcctggagca ttggaatgga aggggcttgg
     2821 gagatgattc ctagacttca caaacactcg gcatgcctcc ctgcactgtc cgttcctctg
     2881 cccaaggccg atattgctaa ctgatcacag attctttccc acctcacaat ccttccgaat
     2941 gtgctccagg cagcaccatt tgccatcctg cttctaacgc aaacccctga cttcatggat
     3001 gaggaacctg gagaccaaag agacaaaggg actttttcaa gttcacatgg ggaccccctt
     3061 cttgggggcc agagatatga ctaaaacctt atctccttgt gctcaggcca gtgtcttccc
     3121 attaaccccc tgccttagtt aacaagtgtg tatggattgc cttcca
//
