LOCUS       NM_080552               2550 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens solute carrier family 32 member 1 (SLC32A1), mRNA.
ACCESSION   NM_080552
VERSION     NM_080552.3
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 2550)
  AUTHORS   Heron,S.E., Regan,B.M., Harris,R.V., Gardner,A.E., Coleman,M.J.,
            Bennett,M.F., Grinton,B.E., Helbig,K.L., Sperling,M.R., Haut,S.,
            Geller,E.B., Widdess-Walsh,P., Pelekanos,J.T., Bahlo,M.,
            Petrovski,S., Heinzen,E.L., Hildebrand,M.S., Corbett,M.A.,
            Scheffer,I.E., Gecz,J. and Berkovic,S.F.
  TITLE     Association of SLC32A1 Missense Variants With Genetic Epilepsy With
            Febrile Seizures Plus
  JOURNAL   Neurology 96 (18), e2251-e2260 (2021)
   PUBMED   34038384
  REMARK    GeneRIF: Association of SLC32A1 Missense Variants With Genetic
            Epilepsy With Febrile Seizures Plus.
REFERENCE   2  (bases 1 to 2550)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   3  (bases 1 to 2550)
  AUTHORS   Schioth,H.B., Roshanbin,S., Hagglund,M.G. and Fredriksson,R.
  TITLE     Evolutionary origin of amino acid transporter families SLC32, SLC36
            and SLC38 and physiological, pathological and therapeutic aspects
  JOURNAL   Mol Aspects Med 34 (2-3), 571-585 (2013)
   PUBMED   23506890
  REMARK    Review article
REFERENCE   4  (bases 1 to 2550)
  AUTHORS   Hrabovszky,E., Molnar,C.S., Nagy,R., Vida,B., Borsay,B.A., Racz,K.,
            Herczeg,L., Watanabe,M., Kallo,I. and Liposits,Z.
  TITLE     Glutamatergic and GABAergic innervation of human
            gonadotropin-releasing hormone-I neurons
  JOURNAL   Endocrinology 153 (6), 2766-2776 (2012)
   PUBMED   22510271
  REMARK    GeneRIF: Data indicate that GABAergic axons were labeled with
            vesicular inhibitory aa transporter (VIAAT) antibodies, whereas
            glutamatergic axons were detected with antisera against the major
            vesicular glutamate transporter (VGLUT) isoforms, VGLUT1 and
            VGLUT2.
REFERENCE   5  (bases 1 to 2550)
  AUTHORS   Fung,S.J., Webster,M.J. and Weickert,C.S.
  TITLE     Expression of VGluT1 and VGAT mRNAs in human dorsolateral
            prefrontal cortex during development and in schizophrenia
  JOURNAL   Brain Res 1388, 22-31 (2011)
   PUBMED   21396926
  REMARK    GeneRIF: We examined the ratio of excitatory to inhibitory
            vesicular neurotransmitter transporter mRNAs (VGluT1 to VGAT) and
            their ratio in the dorsolateral prefrontal cortex during normal
            human development and in people with schizophrenia
            Erratum:[Brain Res. 2011 Jul 21;1402:132. Weicker, Cynthia Shannon
            [corrected to Weickert, Cynthia Shannon]]
REFERENCE   6  (bases 1 to 2550)
  AUTHORS   Jellali,A., Stussi-Garaud,C., Gasnier,B., Rendon,A., Sahel,J.A.,
            Dreyfus,H. and Picaud,S.
  TITLE     Cellular localization of the vesicular inhibitory amino acid
            transporter in the mouse and human retina
  JOURNAL   J Comp Neurol 449 (1), 76-87 (2002)
   PUBMED   12115694
  REMARK    GeneRIF: VIATT has been identified in horizontal cells of the adult
            outer retina in culture, either at their terminals or throughout
            the entire cell.
REFERENCE   7  (bases 1 to 2550)
  AUTHORS   Chessler,S.D., Simonson,W.T., Sweet,I.R. and Hammerle,L.P.
  TITLE     Expression of the vesicular inhibitory amino acid transporter in
            pancreatic islet cells: distribution of the transporter within rat
            islets
  JOURNAL   Diabetes 51 (6), 1763-1771 (2002)
   PUBMED   12031963
REFERENCE   8  (bases 1 to 2550)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   9  (bases 1 to 2550)
  AUTHORS   Kleiderlein,J.J., Nisson,P.E., Jessee,J., Li,W.B., Becker,K.G.,
            Derby,M.L., Ross,C.A. and Margolis,R.L.
  TITLE     CCG repeats in cDNAs from human brain
  JOURNAL   Hum Genet 103 (6), 666-673 (1998)
   PUBMED   9921901
  REMARK    Erratum:[Hum Genet 1999 Jan;104(1):113]
REFERENCE   10 (bases 1 to 2550)
  AUTHORS   McIntire,S.L., Reimer,R.J., Schuske,K., Edwards,R.H. and
            Jorgensen,E.M.
  TITLE     Identification and characterization of the vesicular GABA
            transporter
  JOURNAL   Nature 389 (6653), 870-876 (1997)
   PUBMED   9349821
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI488536.1 and BC053582.1.
            
            On Nov 22, 2018 this sequence version replaced NM_080552.2.
            
            Summary: The protein encoded by this gene is an integral membrane
            protein involved in gamma-aminobutyric acid (GABA) and glycine
            uptake into synaptic vesicles. The encoded protein is a member of
            amino acid/polyamine transporter family II. [provided by RefSeq,
            Jul 2008].
            
            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 :: AK055051.1, SRR3476690.433362.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217420.2/ ENSP00000217420.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                BI488536.1         25-89
            66-2550             BC053582.1         1-2485
FEATURES             Location/Qualifiers
     source          1..2550
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..2550
                     /gene="SLC32A1"
                     /gene_synonym="DEE114; GEFSP12; VGAT; VIAAT; VIAAT
                     GEFSP12"
                     /note="solute carrier family 32 member 1"
                     /db_xref="GeneID:140679"
                     /db_xref="HGNC:HGNC:11018"
                     /db_xref="MIM:616440"
     exon            1..629
                     /gene="SLC32A1"
                     /gene_synonym="DEE114; GEFSP12; VGAT; VIAAT; VIAAT
                     GEFSP12"
                     /inference="alignment:Splign:2.1.0"
     CDS             240..1817
                     /gene="SLC32A1"
                     /gene_synonym="DEE114; GEFSP12; VGAT; VIAAT; VIAAT
                     GEFSP12"
                     /note="GABA and glycine transporter; vesicular GABA
                     transporter; hVIAAT; solute carrier family 32 (GABA
                     vesicular transporter), member 1"
                     /codon_start=1
                     /product="vesicular inhibitory amino acid transporter"
                     /protein_id="NP_542119.1"
                     /db_xref="CCDS:CCDS13307.1"
                     /db_xref="GeneID:140679"
                     /db_xref="HGNC:HGNC:11018"
                     /db_xref="MIM:616440"
                     /translation="MATLLRSKLSNVATSVSNKSQAKMSGMFARMGFQAATDEEAVGF
                     AHCDDLDFEHRQGLQMDILKAEGEPCGDEGAEAPVEGDIHYQRGSGAPLPPSGSKDQV
                     GGGGEFGGHDKPKITAWEAGWNVTNAIQGMFVLGLPYAILHGGYLGLFLIIFAAVVCC
                     YTGKILIACLYEENEDGEVVRVRDSYVAIANACCAPRFPTLGGRVVNVAQIIELVMTC
                     ILYVVVSGNLMYNSFPGLPVSQKSWSIIATAVLLPCAFLKNLKAVSKFSLLCTLAHFV
                     INILVIAYCLSRARDWAWEKVKFYIDVKKFPISIGIIVFSYTSQIFLPSLEGNMQQPS
                     EFHCMMNWTHIAACVLKGLFALVAYLTWADETKEVITDNLPGSIRAVVNIFLVAKALL
                     SYPLPFFAAVEVLEKSLFQEGSRAFFPACYSGDGRLKSWGLTLRCALVVFTLLMAIYV
                     PHFALLMGLTGSLTGAGLCFLLPSLFHLRLLWRKLLWHQVFFDVAIFVIGGICSVSGF
                     VHSLEGLIEAYRTNAED"
     exon            630..2550
                     /gene="SLC32A1"
                     /gene_synonym="DEE114; GEFSP12; VGAT; VIAAT; VIAAT
                     GEFSP12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2530..2535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC32A1"
                     /gene_synonym="DEE114; GEFSP12; VGAT; VIAAT; VIAAT
                     GEFSP12"
                     /note="hexamer: AATAAA"
     polyA_site      2550
                     /gene="SLC32A1"
                     /gene_synonym="DEE114; GEFSP12; VGAT; VIAAT; VIAAT
                     GEFSP12"
                     /note="major polyA site"
ORIGIN      
        1 agtgcactag ccaccaccgc cgccgccgcc gctccgccag acctgctgcc agcttgcccg
       61 gtccagccct gagagagcct cgaacgccag ctgcgagggt catgagccag agagccccgg
      121 ggcgccgcgc ggagagcaag cggagatagc gactttgcgc cccccagccc tcgccttctt
      181 gcatcgcgtt ccccgcatcc tcgggtcctt ctgtcctttc cgctgtcccc accgccgcca
      241 tggccacctt gctccgcagc aagctgtcca acgtggccac gtccgtgtcc aacaagtccc
      301 aggccaagat gagcggcatg ttcgccagga tgggttttca ggcggccacg gatgaggagg
      361 cggtgggctt cgcgcattgc gacgacctcg actttgagca ccgccagggc ctgcagatgg
      421 acatcctgaa agccgaggga gagccctgcg gggacgaggg cgctgaagcg cccgtcgagg
      481 gagacatcca ttatcagcga ggcagcggag ctcctctgcc gccctccggc tccaaggacc
      541 aggtgggagg tggtggcgaa ttcgggggcc acgacaagcc caaaatcacg gcgtgggagg
      601 caggctggaa cgtgaccaac gccatccagg gcatgttcgt gctgggccta ccctacgcca
      661 tcctgcacgg cggctacctg gggttgtttc tcatcatctt cgccgccgtt gtgtgctgct
      721 acaccggcaa gatcctcatc gcgtgcctgt acgaggagaa tgaagacggc gaggtggtgc
      781 gcgtgcggga ctcgtacgtg gccatagcca acgcctgctg cgccccgcgc ttcccaacgc
      841 tgggcggccg agtggtgaac gtagcgcaga tcatcgagct ggtgatgacg tgcatcctgt
      901 acgtggtggt gagtggcaac ctcatgtaca acagcttccc ggggctgccc gtgtcgcaga
      961 agtcctggtc cattatcgcc acggccgtgc tgctgccttg cgccttcctt aagaacctca
     1021 aggccgtgtc caagttcagt ctgctgtgca ctctggccca cttcgtcatc aatatcctgg
     1081 tcatagccta ctgtctatcg cgggcgcgcg actgggcctg ggagaaggtc aagttctaca
     1141 tcgacgtcaa gaagttcccc atctccattg gcatcatcgt gttcagctac acgtctcaga
     1201 tcttcctgcc ttcgctggag ggcaatatgc agcagcccag cgagttccac tgcatgatga
     1261 actggacgca catcgcagcc tgcgtgctca agggcctctt cgcgctcgtc gcctacctca
     1321 cctgggccga cgagaccaag gaggtcatca cggataacct gcccggctcc atccgcgccg
     1381 tggtcaacat ctttctggtg gccaaggcgc tgttgtccta tcctctgcca ttctttgccg
     1441 ctgtcgaggt gctggagaag tcgctcttcc aggaaggcag ccgcgccttt ttcccggcct
     1501 gctacagcgg cgacgggcgc ctgaagtcct gggggctgac gctgcgctgc gcgctcgtcg
     1561 tcttcacgct gctcatggcc atttatgtgc cgcacttcgc gctgctcatg ggcctcaccg
     1621 gcagcctcac gggcgccggc ctctgtttct tgctgcccag cctctttcac ctgcgcctgc
     1681 tctggcgcaa gctgctgtgg caccaagtct tcttcgacgt cgccatcttc gtcatcggcg
     1741 gcatctgcag cgtgtccggc ttcgtgcact ccctcgaggg cctcatcgaa gcctaccgaa
     1801 ccaacgcgga ggactagggc gcaagggcga gcccccgccg cgcttctgcg ctctctccct
     1861 tctcccctca ccccgccccc accagcccag tgcgccctgc cgccgcgctt gggaggccaa
     1921 gctttaaaca tctctggttc ctagtttctg attattcggg gatggggggg atgggagggg
     1981 acagggattc acgatccatc gcgtctgcgt ttctgttgtc ctttcttttc cacaacaccc
     2041 tggttttggg gggaggcggg gtgcatttgc gggcagggtt ctctgtcctt ccaagtgggg
     2101 ccccgacact ttggttccag tcatcgaggg ggttgggaag ggagggagag ggggcgcagc
     2161 tcgcaggcgt ggcaacttga ccttggggga atatttcaca tccatccaga gctcggaatc
     2221 tacagcgtcc agccatttcc agcaagagcg cttcccattc cggagacgtt tcaaccctgc
     2281 agcgggaaag gctgactggg aaatccattt tgggtgggca atttccttca acgaagccgg
     2341 aaggcgagaa gccgcggcgg ggccagcttg cctgccggtt ttcaggaatc taaactctca
     2401 tcttgtgcaa tttatcaggt gtggaactgt tctactgtgc gtgtggtgtg ctcgtggtga
     2461 ataagatgaa atgtatatca gaaaaaaatc tatctctaat ttagagtgcg gtacataatt
     2521 atatccgcaa ataaagaaga gacaaaggct
//
