LOCUS       NM_001328630            2746 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens solute carrier family 6 member 9 (SLC6A9), transcript
            variant 10, mRNA.
ACCESSION   NM_001328630
VERSION     NM_001328630.2
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 2746)
  AUTHORS   Wei,Y., Li,R., Meng,Y., Hu,T., Zhao,J., Gao,Y., Bai,Q., Li,N. and
            Zhao,Y.
  TITLE     Transport mechanism and pharmacology of the human GlyT1
  JOURNAL   Cell 187 (7), 1719-1732 (2024)
   PUBMED   38513663
  REMARK    GeneRIF: Transport mechanism and pharmacology of the human GlyT1.
REFERENCE   2  (bases 1 to 2746)
  AUTHORS   Piniella,D. and Zafra,F.
  TITLE     Functional crosstalk of the glycine transporter GlyT1 and NMDA
            receptors
  JOURNAL   Neuropharmacology 232, 109514 (2023)
   PUBMED   37003571
  REMARK    GeneRIF: Functional crosstalk of the glycine transporter GlyT1 and
            NMDA receptors.
            Review article
REFERENCE   3  (bases 1 to 2746)
  AUTHORS   Zhang,Y.W., Uchendu,S., Leone,V., Bradshaw,R.T., Sangwa,N.,
            Forrest,L.R. and Rudnick,G.
  TITLE     Chloride-dependent conformational changes in the GlyT1 glycine
            transporter
  JOURNAL   Proc Natl Acad Sci U S A 118 (10) (2021)
   PUBMED   33658361
  REMARK    GeneRIF: Chloride-dependent conformational changes in the GlyT1
            glycine transporter.
REFERENCE   4  (bases 1 to 2746)
  AUTHORS   Shahsavar,A., Stohler,P., Bourenkov,G., Zimmermann,I., Siegrist,M.,
            Guba,W., Pinard,E., Sinning,S., Seeger,M.A., Schneider,T.R.,
            Dawson,R.J.P. and Nissen,P.
  TITLE     Structural insights into the inhibition of glycine reuptake
  JOURNAL   Nature 591 (7851), 677-681 (2021)
   PUBMED   33658720
  REMARK    GeneRIF: Structural insights into the inhibition of glycine
            reuptake.
REFERENCE   5  (bases 1 to 2746)
  AUTHORS   Mademont-Soler,I., Casellas-Vidal,D., Trujillo,A.,
            Espuna-Capote,N., Maroto,A., Garcia-Gonzalez,M.D.M., Ruiz,M.D.,
            Diego-Alvarez,D., Queralt,X., Perapoch,J. and Obon,M.
  TITLE     GLYT1 encephalopathy: Further delineation of disease phenotype and
            discussion of pathophysiological mechanisms
  JOURNAL   Am J Med Genet A 185 (2), 476-485 (2021)
   PUBMED   33269555
  REMARK    GeneRIF: GLYT1 encephalopathy: Further delineation of disease
            phenotype and discussion of pathophysiological mechanisms.
REFERENCE   6  (bases 1 to 2746)
  AUTHORS   Olivares,L., Aragon,C., Gimenez,C. and Zafra,F.
  TITLE     The role of N-glycosylation in the targeting and activity of the
            GLYT1 glycine transporter
  JOURNAL   J Biol Chem 270 (16), 9437-9442 (1995)
   PUBMED   7721869
REFERENCE   7  (bases 1 to 2746)
  AUTHORS   Jones,E.M., Fernald,A., Bell,G.I. and Le Beau,M.M.
  TITLE     Assignment of SLC6A9 to human chromosome band 1p33 by in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 71 (3), 211 (1995)
   PUBMED   7587377
REFERENCE   8  (bases 1 to 2746)
  AUTHORS   Kim,K.M., Kingsmore,S.F., Han,H., Yang-Feng,T.L., Godinot,N.,
            Seldin,M.F., Caron,M.G. and Giros,B.
  TITLE     Cloning of the human glycine transporter type 1: molecular and
            pharmacological characterization of novel isoform variants and
            chromosomal localization of the gene in the human and mouse genomes
  JOURNAL   Mol Pharmacol 45 (4), 608-617 (1994)
   PUBMED   8183239
REFERENCE   9  (bases 1 to 2746)
  AUTHORS   Borowsky,B., Mezey,E. and Hoffman,B.J.
  TITLE     Two glycine transporter variants with distinct localization in the
            CNS and peripheral tissues are encoded by a common gene
  JOURNAL   Neuron 10 (5), 851-863 (1993)
   PUBMED   8494645
REFERENCE   10 (bases 1 to 2746)
  AUTHORS   Kurolap,A., Hershkovitz,T. and Baris,H.N.
  TITLE     GLYT1 Encephalopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29190063
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139220.13.
            
            On Jun 2, 2019 this sequence version replaced NM_001328630.1.
            
            Summary: The amino acid glycine acts as an inhibitory
            neurotransmitter in the central nervous system. The protein encoded
            by this gene is one of two transporters that stop glycine signaling
            by removing it from the synaptic cleft. [provided by RefSeq, Jun
            2016].
            
            Transcript Variant: This variant (10) differs in the 5' UTR and
            coding sequence and lacks an alternate 3' in-frame exon compared to
            variant 2. The resulting isoform (8) is shorter at the N-terminus
            and lacks an alternate C-terminal segment compared to isoform 2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1803617.144805.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-157               AL139220.13        46597-46753         c
            158-272             AL139220.13        39539-39653         c
            273-543             AL139220.13        23644-23914         c
            544-676             AL139220.13        18144-18276         c
            677-811             AL139220.13        17803-17937         c
            812-915             AL139220.13        17604-17707         c
            916-1153            AL139220.13        16681-16918         c
            1154-1288           AL139220.13        16455-16589         c
            1289-1388           AL139220.13        16247-16346         c
            1389-1489           AL139220.13        16058-16158         c
            1490-2746           AL139220.13        11774-13030         c
FEATURES             Location/Qualifiers
     source          1..2746
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2746
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="solute carrier family 6 member 9"
                     /db_xref="GeneID:6536"
                     /db_xref="HGNC:HGNC:11056"
                     /db_xref="MIM:601019"
     exon            1..157
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            158..272
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            273..543
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             287..1684
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="isoform 8 is encoded by transcript variant 10;
                     sodium- and chloride-dependent glycine transporter 1;
                     glyT-1; solute carrier family 6 (neurotransmitter
                     transporter, glycine), member 9"
                     /codon_start=1
                     /product="sodium- and chloride-dependent glycine
                     transporter 1 isoform 8"
                     /protein_id="NP_001315559.1"
                     /db_xref="GeneID:6536"
                     /db_xref="HGNC:HGNC:11056"
                     /db_xref="MIM:601019"
                     /translation="MMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHD
                     CAGVLDASNLTNGSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEV
                     RLPLLGCLGVSWLVVFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGI
                     MYYLTPQWDKILEAKVWGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISIT
                     NCATSVYAGFVIFSILGFMANHLGVDVSRVADHGPGLAFVAYPEALTLLPISPLWSLL
                     FFFMLILLGLGTQFCLLETLVTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQ
                     AGIYWLLLMDNYAASFSLVVISCIMCVAIMYIYGHRNYFQDIQMMLGFPPPLFFQICW
                     RFVSPAIIFRLKNATKPSRDWGPALLEHRTGRYAPTIAPSPEDGFEVQPLHPDKAQIP
                     IVGSNGSSRLQDSRI"
     exon            544..676
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            677..811
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            812..915
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1153
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1288
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1388
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1489
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..2746
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2721..2726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="hexamer: AATGAA"
     polyA_site      2746
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="major polyA site"
ORIGIN      
        1 acaacaggct gtggaagagc tgcgagcggc gcggcggggc gggcgaactc ggcgcggcac
       61 agagcctcgg gaggctgatg caactttccc tttaagaaag ccacctgggc gcaccgcggt
      121 gcggacccag cacgcctggg ccgggggctg cagcatgctc ttgagatctg tggcctgaaa
      181 ggcgctggaa gcagagcctg tgagtgtggt ccccgtcacc agagccccaa cccaccgccg
      241 ccatggtagg aaaaggtgcc aaagggatgc tggagtgggc tatggtatga tggtggtgtc
      301 cacctacatc ggcatctact acaatgtggt catctgcatc gccttctact acttcttctc
      361 gtccatgacg cacgtgctgc cctgggccta ctgcaataac ccctggaaca cgcatgactg
      421 cgccggtgta ctggacgcct ccaacctcac caatggctct cggccagccg ccttgcccag
      481 caacctctcc cacctgctca accacagcct ccagaggacc agccccagcg aggagtactg
      541 gaggctgtac gtgctgaagc tgtcagatga cattgggaac tttggggagg tgcggctgcc
      601 cctccttggc tgcctcggtg tctcctggtt ggtcgtcttc ctctgcctca tccgaggggt
      661 caagtcttca gggaaagtgg tgtacttcac ggccacgttc ccctacgtgg tgctgaccat
      721 tctgtttgtc cgcggagtga ccctggaggg agcctttgac ggcatcatgt actacctaac
      781 cccgcagtgg gacaagatcc tggaggccaa ggtgtggggt gatgctgcct cccagatctt
      841 ctactcactg ggctgcgcgt ggggaggcct catcaccatg gcttcctaca acaagttcca
      901 caataactgt taccgggaca gtgtcatcat cagcatcacc aactgtgcca ccagcgtcta
      961 tgctggcttc gtcatcttct ccatcctcgg cttcatggcc aatcacctgg gcgtggatgt
     1021 gtcccgtgtg gcagaccacg gccctggcct ggccttcgtg gcttaccccg aggccctcac
     1081 actacttccc atctccccgc tgtggtctct gctcttcttc ttcatgctta tcctgctggg
     1141 gctgggcact cagttctgcc tcctggagac gctggtcaca gccattgtgg atgaggtggg
     1201 gaatgagtgg atcctgcaga aaaagaccta tgtgaccttg ggcgtggctg tggctggctt
     1261 cctgctgggc atccccctca ccagccaggc aggcatctat tggctgctgc tgatggacaa
     1321 ctatgcggcc agcttctcct tggtggtcat ctcctgcatc atgtgtgtgg ccatcatgta
     1381 catctacggg caccggaact acttccagga catccagatg atgctgggat tcccaccacc
     1441 cctcttcttt cagatctgct ggcgcttcgt ctctcccgcc atcatcttcc gtttgaaaaa
     1501 tgccacaaag ccaagcagag actggggccc tgccctcctg gagcaccgga cagggcgcta
     1561 cgcccccacc atagccccct ctcctgagga cggcttcgag gtccagccac tgcacccgga
     1621 caaggcgcag atccccattg tgggcagtaa tggctccagc cgcctccagg actcccggat
     1681 atgagcacag ctgccagggg agtggcccca cccccacccc gtgctcccac cgcagagact
     1741 ggtgaggcag aggccaggtg tctctgcctg ccccctgcca cgccctggcc aggacggctg
     1801 ctgtcacctt ggtcaccact gctagtgcag tcattcatgc tcatgtcccc agtgtttaca
     1861 tgtcctttgg atgccaagat agcagctggg gggaggggtg ggagtggagg gttgctggga
     1921 ggtccaaagc actttggagg ggtctcgggc caggtcccca gcagcctgga tggctttacg
     1981 tggcctccga tacccttata ccctgccctg agctgaggtt ctgggtgggc ctccagcccc
     2041 atgactagtg ctcctgccct cagagccgac cccagcctct gccaggcaca tttggctatt
     2101 cctccctagg ggcaggatga agggctgggg gactgcccag tgttacttgt caggctgtgc
     2161 tgcccagccc tgtttatctg tgtaattatt tttgtaaaca ttgtattctc tgtggtcgcc
     2221 acctcctcgc ccccagcctc gggttcagtc tgtcttccag gcctgcttgc acctcactgg
     2281 gctgctccgg ggtctctgcc cctcattcca ggcctggctg tcaggcccag ccagcagggg
     2341 cccgtgaccc agcagcctgc ccaaagcatt tgtttctggg ggatggggtg ggggctgctc
     2401 cacaggaggt ttgagcccag caccctgggg aaggggaccc tgcacgacac ccccttgccc
     2461 tccctccatg aggctaaagg cccagtcttc ccaaatgtgc tgccctcgtt catgtgccaa
     2521 atggccccag cccacatgcc cctcccctct ctggagtggg agccccttct gaagtgtctg
     2581 aatccctgaa gtgttcattt gtccgtcctc tgtgcagtga cagccccggc caagccacct
     2641 ctaatcctct gtagcaataa cggtgcgccg cccatccctg cccattgtgc accactagga
     2701 ttttaaagtc catagatttt aatgaaattt ctattcctgt ctctga
//
