LOCUS       NM_003053               2683 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 18 member A1 (SLC18A1),
            transcript variant 2, mRNA.
ACCESSION   NM_003053
VERSION     NM_003053.4
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 2683)
  AUTHORS   Pucci,A., Bacca,A., Barravecchia,I., Di Stefano,I., Belgio,B.,
            Lorenzini,D., Torregrossa,L., Chiacchio,S., Congregati,C.,
            Materazzi,G., Ferrari,M., Angeloni,D., Bernini,G. and Basolo,F.
  TITLE     Sclerosing Paragangliomas: Correlations of Histological Features
            with Patients' Genotype and Vesicular Monoamine Transporter
            Expression
  JOURNAL   Head Neck Pathol 16 (4), 998-1011 (2022)
   PUBMED   35524772
  REMARK    GeneRIF: Sclerosing Paragangliomas: Correlations of Histological
            Features with Patients' Genotype and Vesicular Monoamine
            Transporter Expression.
REFERENCE   2  (bases 1 to 2683)
  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 2683)
  AUTHORS   Sato,D.X., Ishii,Y., Nagai,T., Ohashi,K. and Kawata,M.
  TITLE     Human-specific mutations in VMAT1 confer functional changes and
            multi-directional evolution in the regulation of monoamine circuits
  JOURNAL   BMC Evol Biol 19 (1), 220 (2019)
   PUBMED   31791232
  REMARK    GeneRIF: Finding suggests that monoamine uptake by VMAT1 initially
            declined in early human evolution (from 130Glu/136Asn to
            130Gly/136Thr) but increased along with the emergence of the
            130Gly/136Ile variant around the time of the out of Africa
            dispersal of modern humans.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2683)
  AUTHORS   Georgantzi,K., Tsolakis,A.V., Jakobson,A., Christofferson,R.,
            Janson,E.T. and Grimelius,L.
  TITLE     Synaptic Vesicle Protein 2 and Vesicular Monoamine Transporter 1
            and 2 Are Expressed in Neuroblastoma
  JOURNAL   Endocr Pathol 30 (3), 173-179 (2019)
   PUBMED   31317476
  REMARK    GeneRIF: SV2 was highly expressed in neuroblastoma (NB) and can
            thus be useful marker in NB diagnostics. VMAT1 and VMAT2 were also
            expressed in NB but similar to syn less reliable as tumor markers.
REFERENCE   5  (bases 1 to 2683)
  AUTHORS   Gonzalez,I., Polvillo,R., Ruiz-Galdon,M., Reyes-Engel,A. and
            Royo,J.L.
  TITLE     Dysmorphic contribution of neurotransmitter and neuroendocrine
            system polymorphisms to subtherapeutic mood states
  JOURNAL   Brain Behav 9 (2), e01140 (2019)
   PUBMED   30656852
  REMARK    GeneRIF: SLC18A1 variants correlated with Anger and Vigor scores,
            only among males.
REFERENCE   6  (bases 1 to 2683)
  AUTHORS   Essand,M., Vikman,S., Grawe,J., Gedda,L., Hellberg,C., Oberg,K.,
            Totterman,T.H. and Giandomenico,V.
  TITLE     Identification and characterization of a novel splicing variant of
            vesicular monoamine transporter 1
  JOURNAL   J Mol Endocrinol 35 (3), 489-501 (2005)
   PUBMED   16326835
  REMARK    GeneRIF: VMAT1Delta15 is not localized in large, dense core
            vesicles as the native form but in the endoplasmic reticulum. While
            VMAT1 can take up serotonin, VMAT1Delta15 cannot, indicating
            different functions for the two forms of VMAT1.
REFERENCE   7  (bases 1 to 2683)
  AUTHORS   Horvath,G., Sutto,Z., Torbati,A., Conner,G.E., Salathe,M. and
            Wanner,A.
  TITLE     Norepinephrine transport by the extraneuronal monoamine transporter
            in human bronchial arterial smooth muscle cells
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 285 (4), L829-L837 (2003)
   PUBMED   12807698
  REMARK    GeneRIF: Human bronchial arterial smooth muscle cells express OCT-1
            and extraneuronal monoamine transporter(EMT). EMT is the
            predominant plasma membrane transporter for norepinephrine uptake.
REFERENCE   8  (bases 1 to 2683)
  AUTHORS   Amenta,F., Bronzetti,E., Cantalamessa,F., El-Assouad,D., Felici,L.,
            Ricci,A. and Tayebati,S.K.
  TITLE     Identification of dopamine plasma membrane and vesicular
            transporters in human peripheral blood lymphocytes
  JOURNAL   J Neuroimmunol 117 (1-2), 133-142 (2001)
   PUBMED   11431013
REFERENCE   9  (bases 1 to 2683)
  AUTHORS   Erickson,J.D., Schafer,M.K., Bonner,T.I., Eiden,L.E. and Weihe,E.
  TITLE     Distinct pharmacological properties and distribution in neurons and
            endocrine cells of two isoforms of the human vesicular monoamine
            transporter
  JOURNAL   Proc Natl Acad Sci U S A 93 (10), 5166-5171 (1996)
   PUBMED   8643547
REFERENCE   10 (bases 1 to 2683)
  AUTHORS   Peter,D., Finn,J.P., Klisak,I., Liu,Y., Kojis,T., Heinzmann,C.,
            Roghani,A., Sparkes,R.S. and Edwards,R.H.
  TITLE     Chromosomal localization of the human vesicular amine transporter
            genes
  JOURNAL   Genomics 18 (3), 720-723 (1993)
   PUBMED   7905859
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U39905.1, BC009387.2, BC006317.2 and AC025853.17.
            
            On Nov 22, 2018 this sequence version replaced NM_003053.3.
            
            Summary: The vesicular monoamine transporter acts to accumulate
            cytosolic monoamines into vesicles, using the proton gradient
            maintained across the vesicular membrane. Its proper function is
            essential to the correct activity of the monoaminergic systems that
            have been implicated in several human neuropsychiatric disorders.
            The transporter is a site of action of important drugs, including
            reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]).
            See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein
            (isoform a).
            
            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 :: U39905.1, AK313720.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162841 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276373.10/ ENSP00000276373.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-170               U39905.1           71-240
            171-1343            BC009387.2         160-1332
            1344-2309           BC006317.2         1431-2396
            2310-2622           BC006317.2         2398-2710
            2623-2623           AC025853.17        132582-132582
            2624-2683           BC006317.2         2712-2771
FEATURES             Location/Qualifiers
     source          1..2683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..2683
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /note="solute carrier family 18 member A1"
                     /db_xref="GeneID:6570"
                     /db_xref="HGNC:HGNC:10934"
                     /db_xref="MIM:193002"
     exon            1..74
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            75..321
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..1775
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /note="isoform a is encoded by transcript variant 2;
                     chromaffin granule amine transporter; vesicular amine
                     transporter 1; solute carrier family 18 (vesicular
                     monoamine), member 1; solute carrier family 18 (vesicular
                     monoamine transporter), member 1; solute carrier family 18
                     member 1"
                     /codon_start=1
                     /product="chromaffin granule amine transporter isoform a"
                     /protein_id="NP_003044.1"
                     /db_xref="CCDS:CCDS6013.1"
                     /db_xref="GeneID:6570"
                     /db_xref="HGNC:HGNC:10934"
                     /db_xref="MIM:193002"
                     /translation="MLRTILDAPQRLLKEGRASRQLVLVVVFVALLLDNMLFTVVVPI
                     VPTFLYDMEFKEVNSSLHLGHAGSSPHALASPAFSTIFSFFNNNTVAVEESVPSGIAW
                     MNDTASTIPPPATEAISAHKNNCLQGTGFLEEEITRVGVLFASKAVMQLLVNPFVGPL
                     TNRIGYHIPMFAGFVIMFLSTVMFAFSGTYTLLFVARTLQGIGSSFSSVAGLGMLASV
                     YTDDHERGRAMGTALGGLALGLLVGAPFGSVMYEFVGKSAPFLILAFLALLDGALQLC
                     ILQPSKVSPESAKGTPLFMLLKDPYILVAAGSICFANMGVAILEPTLPIWMMQTMCSP
                     KWQLGLAFLPASVSYLIGTNLFGVLANKMGRWLCSLIGMLVVGTSLLCVPLAHNIFGL
                     IGPNAGLGLAIGMVDSSMMPIMGHLVDLRHTSVYGSVYAIADVAFCMGFAIGPSTGGA
                     IVKAIGFPWLMVITGVINIVYAPLCYYLRSPPAKEEKLAILSQDCPMETRMYATQKPT
                     KEFPLGEDSDEEPDHEE"
     exon            322..685
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            686..744
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            745..828
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            829..921
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1011
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1055
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1116
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1212
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1291
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1343
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1407
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1527
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1661
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..2683
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2037..2042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /note="hexamer: ATTAAA"
     polyA_site      2054
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /note="major polyA site"
     regulatory      2659..2664
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /note="hexamer: AATAAA"
     regulatory      2663..2668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /note="hexamer: AATACA"
     polyA_site      2676
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
     polyA_site      2683
                     /gene="SLC18A1"
                     /gene_synonym="CGAT; VAT1; VMAT1"
                     /note="major polyA site"
ORIGIN      
        1 gaacagtgtc cctgctgtct tgctaacagc tgccaatacc tcactgagtg cctcacacca
       61 acatgggctc caagtgagtt tccttcgtct gggcagactc cctcccctct tccataaagg
      121 ctgcaggaga cctgtagctg tcacaggacc ttccctaaga gcccgcaggg gaagactgcc
      181 ccagtccggc catcaccatg ctccggacca ttctggatgc tccccagcgg ttgctgaagg
      241 aggggagagc gtcccggcag ctggtgctgg tggtggtatt cgtcgctttg ctcctggaca
      301 acatgctgtt tactgtggtg gtgccaattg tgcccacctt cctatatgac atggagttca
      361 aagaagtcaa ctcttctctg cacctcggcc atgccggaag ttccccacat gccctcgcct
      421 ctcctgcctt ttccaccatc ttctccttct tcaacaacaa caccgtggct gttgaagaaa
      481 gcgtacctag tggaatagca tggatgaatg acactgccag caccatccca cctccagcca
      541 ctgaagccat ctcagctcat aaaaacaact gcttgcaagg cacaggtttc ttggaggaag
      601 agattacccg ggtcggggtt ctgtttgctt caaaggctgt gatgcaactt ctggtcaacc
      661 cattcgtggg ccctctcacc aacaggattg gatatcatat ccccatgttt gctggctttg
      721 ttatcatgtt tctctccaca gttatgtttg ctttttctgg gacctatact ctactctttg
      781 tggcccgaac ccttcaaggc attggatctt cattttcatc tgttgcaggt cttggaatgc
      841 tggccagtgt ctacactgat gaccatgaga gaggacgagc catgggaact gctctggggg
      901 gcctggcctt ggggttgctg gtgggagctc cctttggaag tgtaatgtac gagtttgttg
      961 ggaagtctgc acccttcctc atcctggcct tcctggcact actggatgga gcactccagc
     1021 tttgcatcct acagccttcc aaagtctctc ctgagagtgc caaggggact cccctcttta
     1081 tgcttctcaa agacccttac atcctggtgg ctgcagggtc catctgcttt gccaacatgg
     1141 gggtggccat cctggagccc acactgccca tctggatgat gcagaccatg tgctccccca
     1201 agtggcagct gggtctagct ttcttgcctg ccagtgtgtc ctacctcatt ggcaccaacc
     1261 tctttggtgt gttggccaac aagatgggtc ggtggctgtg ttccctaatc gggatgctgg
     1321 tagtaggtac cagcttgctc tgtgttcctc tggctcacaa tatttttggt ctcattggcc
     1381 ccaatgcagg gcttggcctt gccataggca tggtggattc ttctatgatg cccatcatgg
     1441 ggcacctggt ggatctacgc cacacctcgg tgtatgggag tgtctacgcc atcgctgatg
     1501 tggctttttg catgggcttt gctataggtc catccaccgg tggtgccatt gtaaaggcca
     1561 tcggttttcc ctggctcatg gtcatcactg gggtcatcaa catcgtctat gctccactct
     1621 gctactacct gcggagcccc ccggcaaagg aagagaagct tgctattctg agtcaggact
     1681 gccccatgga gacccggatg tatgcaaccc agaagcccac gaaggaattt cctctggggg
     1741 aggacagtga tgaggagcct gaccatgagg agtagcagca gaaggtgctc cttgaattca
     1801 tgatgcctca gtgaccacct ctttccctgg gaccagatca ccatggctga gcccacggct
     1861 cagtgggctt cacatacctc tgcctgggaa tcttctttcc tcccctccca tggacactgt
     1921 ccctgatact cttctcacct gtgtaacttg tagctcttcc tctatgcctt ggtgccgcag
     1981 tggcccatct tttatgggaa gacagagtga tgcaccttcc cgctgctgtg aggttgatta
     2041 aacttgagct gtgacgggtt ctgcaagggg tgactcattg catagaggtg gtagtgagta
     2101 atgtgcccct gaaaccagtg gggtgactga caagcctctt taatctgttg cctgattttc
     2161 tctggcatag tcccaacaga tcggaagagt gttaccctct tttcctcaac gtgttctttc
     2221 ccgggttttc ccagccgagt tgagaaaatg ttctcagcat tgtcttgctg ccaaatgcca
     2281 gcttgaagag ttttgttttg ttttttttca tttatttttt tttttaataa agtgagtgat
     2341 ttttctgtgg ctaaatctag agctgctaaa agggctttac cctcagtgaa aagtgtcttc
     2401 tattttcatt atctttcaga aacaggagcc catttctctt ctgctggagt tattgacatt
     2461 ctcctgacct cccctgtgtg ttcctacctt ttctgaacct cttagactct tagaaataaa
     2521 agtagaagaa agacagaaaa aataactgat tagacccaag atttcatggg aagaagttaa
     2581 aagaaactgc cttgaaatcc ctcctgattg tagatttcct aacaggaggg gtgtaatgtg
     2641 acattgttca tacttgctaa taaatacatt attgcctaat tca
//
