LOCUS       NM_001044               3942 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 6 member 3 (SLC6A3), mRNA.
ACCESSION   NM_001044
VERSION     NM_001044.5
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 3942)
  AUTHORS   Nielsen,J.C., Salomon,K., Kalenderoglou,I.E., Bargmeyer,S.,
            Pape,T., Shahsavar,A. and Loland,C.J.
  TITLE     Structure of the human dopamine transporter in complex with cocaine
  JOURNAL   Nature 632 (8025), 678-685 (2024)
   PUBMED   39112703
  REMARK    GeneRIF: Structure of the human dopamine transporter in complex
            with cocaine.
REFERENCE   2  (bases 1 to 3942)
  AUTHORS   Yamamoto,R., Takenoshita,N., Inagawa,Y., Kato,H., Kaneshiro,K.,
            Kamiya,T., Inagawa,S., Saisho,A., Tsugawa,A., Mastumoto,Y.,
            Yoshimura,M., Saito,K., Shimizu,S. and Sato,T.
  TITLE     Association between longitudinal changes in striatal dopamine
            transporter uptake and clinical features of dementia with Lewy
            bodies
  JOURNAL   Psychogeriatrics 23 (6), 1036-1042 (2023)
   PUBMED   37726104
  REMARK    GeneRIF: Association between longitudinal changes in striatal
            dopamine transporter uptake and clinical features of dementia with
            Lewy bodies.
REFERENCE   3  (bases 1 to 3942)
  AUTHORS   Correa-Arzate,L., Portilla-Robertson,J., Ramirez-Jarquin,J.O.,
            Jacinto-Aleman,L.F., Mejia-Velazquez,C.P., Villanueva-Sanchez,F.G.
            and Rodriguez-Vazquez,M.
  TITLE     LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma
  JOURNAL   Genes (Basel) 14 (8), 1524 (2023)
   PUBMED   37628576
  REMARK    GeneRIF: LRP5, SLC6A3, and SOX10 Expression in Conventional
            Ameloblastoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3942)
  AUTHORS   Lee,F.J., Liu,F., Pristupa,Z.B. and Niznik,H.B.
  TITLE     Direct binding and functional coupling of alpha-synuclein to the
            dopamine transporters accelerate dopamine-induced apoptosis
  JOURNAL   FASEB J 15 (6), 916-926 (2001)
   PUBMED   11292651
REFERENCE   5  (bases 1 to 3942)
  AUTHORS   Donovan,D.M., Vandenbergh,D.J., Perry,M.P., Bird,G.S.,
            Ingersoll,R., Nanthakumar,E. and Uhl,G.R.
  TITLE     Human and mouse dopamine transporter genes: conservation of
            5'-flanking sequence elements and gene structures
  JOURNAL   Brain Res Mol Brain Res 30 (2), 327-335 (1995)
   PUBMED   7637582
REFERENCE   6  (bases 1 to 3942)
  AUTHORS   Spaull,R.V.V. and Kurian,M.A.
  TITLE     SLC6A3-Related Dopamine Transporter Deficiency Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28749637
REFERENCE   7  (bases 1 to 3942)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301402
REFERENCE   8  (bases 1 to 3942)
  AUTHORS   Giros,B., el Mestikawy,S., Godinot,N., Zheng,K., Han,H.,
            Yang-Feng,T. and Caron,M.G.
  TITLE     Cloning, pharmacological characterization, and chromosome
            assignment of the human dopamine transporter
  JOURNAL   Mol Pharmacol 42 (3), 383-390 (1992)
   PUBMED   1406597
REFERENCE   9  (bases 1 to 3942)
  AUTHORS   Vandenbergh,D.J., Persico,A.M. and Uhl,G.R.
  TITLE     A human dopamine transporter cDNA predicts reduced glycosylation,
            displays a novel repetitive element and provides racially-dimorphic
            TaqI RFLPs
  JOURNAL   Brain Res Mol Brain Res 15 (1-2), 161-166 (1992)
   PUBMED   1359373
REFERENCE   10 (bases 1 to 3942)
  AUTHORS   Bannon,M.J., Poosch,M.S., Xia,Y., Goebel,D.J., Cassin,B. and
            Kapatos,G.
  TITLE     Dopamine transporter mRNA content in human substantia nigra
            decreases precipitously with age
  JOURNAL   Proc Natl Acad Sci U S A 89 (15), 7095-7099 (1992)
   PUBMED   1353885
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026748.7 and EF174603.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001044.4.
            
            Summary: This gene encodes a dopamine transporter which is a member
            of the sodium- and chloride-dependent neurotransmitter transporter
            family. The 3' UTR of this gene contains a 40 bp tandem repeat,
            referred to as a variable number tandem repeat or VNTR, which can
            be present in 3 to 11 copies. Variation in the number of repeats is
            associated with idiopathic epilepsy, attention-deficit
            hyperactivity disorder, dependence on alcohol and cocaine,
            susceptibility to Parkinson disease and protection against nicotine
            dependence.[provided by RefSeq, Nov 2009].
            
            Sequence Note: Variation in the number of 40 bp repeats in the 3'
            UTR of this gene has been reported with a normal range of 3 to 11
            repeats. The Reference Sequence contains 10 copies of these
            repeats.
            
            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 :: EF174603.1, M95167.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270349.12/ ENSP00000270349.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC026748.7         64333-64344
            13-722              EF174603.1         3-712
            723-723             AC026748.7         77241-77241
            724-3942            EF174603.1         714-3932
FEATURES             Location/Qualifiers
     source          1..3942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..3942
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="solute carrier family 6 member 3"
                     /db_xref="GeneID:6531"
                     /db_xref="HGNC:HGNC:11049"
                     /db_xref="MIM:126455"
     exon            1..93
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            94..424
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            425..556
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            557..791
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            792..930
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1065
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1169
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1294
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1407
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1536
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1636
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1737
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1738..1905
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..1977
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1978..3942
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2671..2676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="hexamer: AATAAA"
     polyA_site      2690
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="major polyA site"
     regulatory      3917..3922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="hexamer: AATAAA"
     polyA_site      3942
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="major polyA site"
ORIGIN      
        1 gagaccgccc agcgctgcgg agcgggaggg gaggcttcgc ggaacgctct cggcgccagg
       61 actcgcgtgc aaagcccagg cccgggcggc cagaccaaga gggaagaagc acagaattcc
      121 tcaactccca gtgtgcccat gagtaagagc aaatgctccg tgggactcat gtcttccgtg
      181 gtggccccgg ctaaggagcc caatgccgtg ggcccgaagg aggtggagct catccttgtc
      241 aaggagcaga acggagtgca gctcaccagc tccaccctca ccaacccgcg gcagagcccc
      301 gtggaggccc aggatcggga gacctggggc aagaagatcg actttctcct gtccgtcatt
      361 ggctttgctg tggacctggc caacgtctgg cggttcccct acctgtgcta caaaaatggt
      421 ggcggtgcct tcctggtccc ctacctgctc ttcatggtca ttgctgggat gccacttttc
      481 tacatggagc tggccctcgg ccagttcaac agggaagggg ccgctggtgt ctggaagatc
      541 tgccccatac tgaaaggtgt gggcttcacg gtcatcctca tctcactgta tgtcggcttc
      601 ttctacaacg tcatcatcgc ctgggcgctg cactatctct tctcctcctt caccacggag
      661 ctcccctgga tccactgcaa caactcctgg aacagcccca actgctcgga tgcccatcct
      721 ggtgactcca gtggagacag ctcgggcctc aacgacactt ttgggaccac acctgctgcc
      781 gagtactttg aacgtggcgt gctgcacctc caccagagcc atggcatcga cgacctgggg
      841 cctccgcggt ggcagctcac agcctgcctg gtgctggtca tcgtgctgct ctacttcagc
      901 ctctggaagg gcgtgaagac ctcagggaag gtggtatgga tcacagccac catgccatac
      961 gtggtcctca ctgccctgct cctgcgtggg gtcaccctcc ctggagccat agacggcatc
     1021 agagcatacc tgagcgttga cttctaccgg ctctgcgagg cgtctgtttg gattgacgcg
     1081 gccacccagg tgtgcttctc cctgggcgtg gggttcgggg tgctgatcgc cttctccagc
     1141 tacaacaagt tcaccaacaa ctgctacagg gacgcgattg tcaccacctc catcaactcc
     1201 ctgacgagct tctcctccgg cttcgtcgtc ttctccttcc tggggtacat ggcacagaag
     1261 cacagtgtgc ccatcgggga cgtggccaag gacgggccag ggctgatctt catcatctac
     1321 ccggaagcca tcgccacgct ccctctgtcc tcagcctggg ccgtggtctt cttcatcatg
     1381 ctgctcaccc tgggtatcga cagcgccatg ggtggtatgg agtcagtgat caccgggctc
     1441 atcgatgagt tccagctgct gcacagacac cgtgagctct tcacgctctt catcgtcctg
     1501 gcgaccttcc tcctgtccct gttctgcgtc accaacggtg gcatctacgt cttcacgctc
     1561 ctggaccatt ttgcagccgg cacgtccatc ctctttggag tgctcatcga agccatcgga
     1621 gtggcctggt tctatggtgt tgggcagttc agcgacgaca tccagcagat gaccgggcag
     1681 cggcccagcc tgtactggcg gctgtgctgg aagctggtca gcccctgctt tctcctgttc
     1741 gtggtcgtgg tcagcattgt gaccttcaga cccccccact acggagccta catcttcccc
     1801 gactgggcca acgcgctggg ctgggtcatc gccacatcct ccatggccat ggtgcccatc
     1861 tatgcggcct acaagttctg cagcctgcct gggtcctttc gagagaaact ggcctacgcc
     1921 attgcacccg agaaggaccg tgagctggtg gacagagggg aggtgcgcca gttcacgctc
     1981 cgccactggc tcaaggtgta gagggagcag agacgaagac cccaggaagt catcctgcaa
     2041 tgggagagac acgaacaaac caaggaaatc taagtttcga gagaaaggag ggcaacttct
     2101 actcttcaac ctctactgaa aacacaaaca acaaagcaga agactcctct cttctgactg
     2161 tttacacctt tccgtgccgg gagcgcacct cgccgtgtct tgtgttgctg taataacgac
     2221 gtagatctgt gcagcgaggt ccaccccgtt gttgtccctg cagggcagaa aaacgtctaa
     2281 cttcatgctg tctgtgtgag gctccctccc tccctgctcc ctgctcccgg ctctgaggct
     2341 gccccagggg cactgtgttc tcaggcgggg atcacgatcc ttgtagacgc acctgctgag
     2401 aatccccgtg ctcacagtag cttcctagac catttacttt gcccatatta aaaagccaag
     2461 tgtcctgctt ggtttagctg tgcagaaggt gaaatggagg aaaccacaaa ttcatgcaaa
     2521 gtcctttccc gatgcgtggc tcccagcaga ggccgtaaat tgagcgttca gttgacacat
     2581 tgcacacaca gtctgttcag aggcattgga ggatgggggt cctggtatgt ctcaccagga
     2641 aattctgttt atgttcttgc agcagagaga aataaaactc cttgaaacca gctcaggcta
     2701 ctgccactca ggcagcctgt gggtccttgc ggtgtaggga acggcctgag aggagcgtgt
     2761 cctatccccg gacgcatgca gggcccccac aggagcgtgt cctatccccg gacgcatgca
     2821 gggcccccac aggagcatgt cctatccctg gacgcatgca gggcccccac aggagcgtgt
     2881 actaccccag aacgcatgca gggcccccac aggagcgtgt actaccccag gacgcatgca
     2941 gggcccccac tggagcgtgt actaccccag gacgcatgca gggcccccac aggagcgtgt
     3001 cctatccccg gaccggacgc atgcagggcc cccacaggag cgtgtactac cccaggacgc
     3061 atgcagggcc cccacaggag cgtgtactac cccaggatgc atgcagggcc cccacaggag
     3121 cgtgtactac cccaggacgc atgcagggcc cccatgcagg cagcctgcag accacactct
     3181 gcctggcctt gagccgtgac ctccaggaag ggaccccact ggaattttat ttctctcagg
     3241 tgcgtgccac atcaataaca acagttttta tgtttgcgaa tggcttttta aaatcatatt
     3301 tacctgtgaa tcaaaacaaa ttcaagaatg cagtatccgc gagcctgctt gctgatattg
     3361 cagtttttgt ttacaagaat aattagcaat actgagtgaa ggatgttggc caaaagctgc
     3421 tttccatggc acactgccct ctgccactga caggaaagtg gatgccatag tttgaattca
     3481 tgcctcaagt cggtgggcct gcctacgtgc tgcccgaggg caggggccgt gcagggccag
     3541 tcatggctgt cccctgcaag tggacgtggg ctccagggac tggagtgtaa tgctcggtgg
     3601 gagccgtcag cctgtgaact gccaggcagc tgcagttagc acagaggatg gcttccccat
     3661 tgccttctgg ggagggacac agaggacggc ttccccatcg ccttctggcc gctgcagtca
     3721 gcacagagag cggcttcccc attgccttct ggggagggac acagaggaca gcttccccat
     3781 cgccttctgg ctgctgcagt cagcacagag agcggcttcc ccatcgcctt ctggggaggg
     3841 gctccgtgta gcaacccagg tgttgtccgt gtctgttgac caatctctat tcagcatcgt
     3901 gtgggtccct aagcacaata aaagacatcc acaatggaaa aa
//
