LOCUS       NM_001122848            3210 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens solute carrier family 6 member 12 (SLC6A12),
            transcript variant 3, mRNA.
ACCESSION   NM_001122848
VERSION     NM_001122848.3
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 3210)
  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 3210)
  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 3210)
  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 3210)
  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 3210)
  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 3210)
  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 3210)
  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 3210)
  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 3210)
  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 3210)
  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
            DA406088.1, DA390883.1, L42300.1, AC007406.1, BC036838.1 and
            AI241640.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001122848.2.
            
            Transcript Variant: This variant (3) 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 :: SRR1803614.68657.1,
                                           SRR1803614.3767.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684302.1/ ENSP00000508194.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DA406088.1         49-50
            3-407               DA390883.1         1-405
            408-824             L42300.1           90-506
            825-825             AC007406.1         29706-29706         c
            826-2229            L42300.1           508-1911
            2230-3207           BC036838.1         2047-3024
            3208-3210           AI241640.1         13-15               c
FEATURES             Location/Qualifiers
     source          1..3210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     gene            1..3210
                     /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..236
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            237..321
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            322..592
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             379..2223
                     /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_001116320.1"
                     /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            593..727
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            728..868
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            869..956
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1089
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1224
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1328
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1453
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1566
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1704
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1807
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..1908
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1909..2079
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2080..3210
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3185..3190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /note="hexamer: AACAAG"
     polyA_site      3210
                     /gene="SLC6A12"
                     /gene_synonym="BGT-1; BGT1; GAT2"
                     /note="major polyA site"
ORIGIN      
        1 acacacagcc cccgccccaa cacatacaca cacggcttct ttctgtctgg gagtccctgg
       61 acaagtcaca tgggattctg cgctgggagg aacagggtaa ggcgtgaacg tggagggcag
      121 tttccctttc aggtcccggc tctcttggct ttcccataag cagctgcctt gggactctcc
      181 tggagacctg atgcccacag ccaagctgac cacaggagcc ggtgctgggg actgagggaa
      241 acttagagtt cagagagggg gtgtgatttg cctgaggtca cacagcaagt tagagaccca
      301 gctccacgac tcattgtctt ggctttggcc ctcgtcatcc tgcccaccca gcggggcttc
      361 ccaacccacc acacagccat ggacgggaag gtggcagtgc aagagtgtgg gcctcctgca
      421 gtctcctggg tccccgagga gggagagaag ttggaccagg aagacgagga ccaggtgaag
      481 gatcggggcc aatggaccaa caagatggag tttgtgctgt cagtggccgg ggagatcatt
      541 gggctgggca atgtctggag gtttccctat ctctgctaca aaaacggagg tggagccttc
      601 ttcatcccct acttcatctt cttctttgtc tgcggcatcc cggtgttctt cctggaggtg
      661 gcgttgggcc aatacaccag ccaagggagt gtcacagcct ggaggaagat ctgccccctc
      721 ttccagggca ttggtctggc atctgtggtc atcgagtcat atttgaatgt ctactacatc
      781 atcatccttg cctgggctct cttctacctg ttcagctcct tcacttctga gctgccctgg
      841 acgacctgca acaacttttg gaacacagag cattgcacgg actttctgaa ccactcagga
      901 gccggcacag tgaccccatt tgagaatttt acctcacctg tcatggaatt ctgggagaga
      961 cgagttctgg gcatcacctc gggcatccat gacctgggct ccctgcgctg ggagctggcc
     1021 ctgtgcctcc tgctcgcctg ggtcatctgc tatttctgca tctggaaggg ggtcaagtcc
     1081 acaggcaagg tggtttattt cacagccacg tttccgtacc tgatgcttgt cattttgctg
     1141 atcagaggtg tcacccttcc cggagcctac cagggcatca tctactactt gaagccagat
     1201 ttgttccgcc tcaaggaccc tcaggtgtgg atggatgcgg gcacccagat cttcttctcc
     1261 tttgccatct gccaggggtg cctgacagcc ctgggcagct acaacaagta tcacaacaac
     1321 tgctacaagg actgcatcgc cctctgcttc ctgaacagtg ccaccagctt tgtggctggg
     1381 tttgttgtct tctccatcct gggcttcatg tcccaagagc aaggggtgcc catttctgaa
     1441 gtggccgagt caggtcctgg gctggccttc atcgccttcc ccaaggctgt gactatgatg
     1501 cccttatccc agctgtggtc ctgcctgttc tttatcatgc tcatattcct agggctggac
     1561 agccagtttg tctgtgtgga gtgcctggtg acagcctcca tagacatgtt ccccaggcag
     1621 ctccggaaga gcgggcggcg cgagctcctc atcctcacca tcgccgtcat gtgctacctg
     1681 atagggcttt tcctggtcac cgagggcggg atgtacatct tccagctgtt tgactactat
     1741 gcttccagtg gcatatgcct gctgttcctg tcattgtttg aagtggtctg cataagctgg
     1801 gtgtatgggg cggaccgttt ctatgacaac attgaggaca tgattggcta ccggccatgg
     1861 cccctggtga agatctcctg gctcttcctg acccctggac tttgcctggc cactttcctc
     1921 ttctccttga gcaagtacac ccccctcaag tacaacaacg tctatgtgta cccgccctgg
     1981 ggatactcca ttggctggtt cctggctctg tcctccatgg tctgtgtccc actcttcgtc
     2041 gtcatcaccc tcctgaagac tcggggtcct ttcaggaagc gtctgcgtca gctcatcacc
     2101 cctgactcca gtctgccaca gcccaagcaa catccctgct tggatggcag tgctggccgg
     2161 aactttgggc cctccccaac aagggaagga ctgatagccg gggagaagga gacccatttg
     2221 tagggtgtgg ccagaggcca ggcggctcct aagccgggaa cctaggtcag ggccaccctc
     2281 cattctcagc ggacagcctc tgcctctgtc tcctgccaca atcctgctgg gaacctctgg
     2341 agagccacag gcacccccag ctggaggcca gactcctctc ttgtgctagc tggagcagct
     2401 ccttcccctt tgctgataac accaccactg ggacgtgcca tgttgggacg ccactccctg
     2461 tgggaaggca ccatcgtttt tataaagggg ggtctttttg gaggccgcca tctgattgca
     2521 acacctcgag ttatgaggat tccactgtgg ggatgcctct tgttagagcg tactgcattt
     2581 gtacacgggg agaggagcta taattggaac gcacactgcc gtccaatgtg gagagcctga
     2641 tgggacaata ccctgttgga agtgacaact gaacacactg tgttggatcg gaggttccgt
     2701 taggggatcc ttccttaggc ttaacgacag aggcaagcct ttgcatgccg tcagtctgga
     2761 gtttcctccg agtctctcat ggcatctcca gctcctgccc tagttccgca ctgttcttgc
     2821 agtgtttcat caactcctgg agcattggaa tggaaggggc ttgggagatg attcctagac
     2881 ttcacaaaca ctcggcatgc ctccctgcac tgtccgttcc tctgcccaag gccgatattg
     2941 ctaactgatc acagattctt tcccacctca caatccttcc gaatgtgctc caggcagcac
     3001 catttgccat cctgcttcta acgcaaaccc ctgacttcat ggatgaggaa cctggagacc
     3061 aaagagacaa agggactttt tcaagttcac atggggaccc ccttcttggg ggccagagat
     3121 atgactaaaa ccttatctcc ttgtgctcag gccagtgtct tcccattaac cccctgcctt
     3181 agttaacaag tgtgtatgga ttgccttcca
//
