LOCUS       NM_003055               2411 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens solute carrier family 18 member A3 (SLC18A3), mRNA.
ACCESSION   NM_003055
VERSION     NM_003055.3
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 2411)
  AUTHORS   Della Marina,A., Arlt,A., Schara-Schmidt,U., Depienne,C.,
            Gangfuss,A., Kolbel,H., Sickmann,A., Freier,E., Kohlschmidt,N.,
            Hentschel,A., Weis,J., Czech,A., Gruneboom,A. and Roos,A.
  TITLE     Phenotypical and Myopathological Consequences of Compound
            Heterozygous Missense and Nonsense Variants in SLC18A3
  JOURNAL   Cells 10 (12), 3481 (2021)
   PUBMED   34943989
  REMARK    GeneRIF: Phenotypical and Myopathological Consequences of Compound
            Heterozygous Missense and Nonsense Variants in SLC18A3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2411)
  AUTHORS   Pergolizzi,S., Rizzo,G., Favaloro,A., Alesci,A., Pallio,S.,
            Melita,G., Cutroneo,G. and Lauriano,E.R.
  TITLE     Expression of VAChT and 5-HT in Ulcerative colitis dendritic cells
  JOURNAL   Acta Histochem 123 (4), 151715 (2021)
   PUBMED   33940317
  REMARK    GeneRIF: Expression of VAChT and 5-HT in Ulcerative colitis
            dendritic cells.
REFERENCE   3  (bases 1 to 2411)
  AUTHORS   Mazere,J., Dilharreguy,B., Catheline,G., Vidailhet,M., Deffains,M.,
            Vimont,D., Ribot,B., Barse,E., Cif,L., Mazoyer,B., Langbour,N.,
            Pisani,A., Allard,M., Lamare,F., Guehl,D., Fernandez,P. and
            Burbaud,P.
  TITLE     Striatal and cerebellar vesicular acetylcholine transporter
            expression is disrupted in human DYT1 dystonia
  JOURNAL   Brain 144 (3), 909-923 (2021)
   PUBMED   33638639
  REMARK    GeneRIF: Striatal and cerebellar vesicular acetylcholine
            transporter expression is disrupted in human DYT1 dystonia.
            Erratum:[Brain. 2021 Sep 4;144(8):e68. doi: 10.1093/brain/awab172..
            PMID: 34323950]
REFERENCE   4  (bases 1 to 2411)
  AUTHORS   Lamond,A., Buckley,D., O'Dea,J. and Turner,L.
  TITLE     Variants of SLC18A3 leading to congenital myasthenic syndrome in
            two children with varying presentations
  JOURNAL   BMJ Case Rep 14 (1), e237799 (2021)
   PUBMED   33462016
  REMARK    GeneRIF: Variants of SLC18A3 leading to congenital myasthenic
            syndrome in two children with varying presentations.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2411)
  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   6  (bases 1 to 2411)
  AUTHORS   Schutz,B., Chen,L., Schafer,M.K., Weihe,E. and Eiden,L.E.
  TITLE     Somatomotor neuron-specific expression of the human cholinergic
            gene locus in transgenic mice
  JOURNAL   Neuroscience 96 (4), 707-722 (2000)
   PUBMED   10727789
REFERENCE   7  (bases 1 to 2411)
  AUTHORS   Varoqui,H. and Erickson,J.D.
  TITLE     Active transport of acetylcholine by the human vesicular
            acetylcholine transporter
  JOURNAL   J Biol Chem 271 (44), 27229-27232 (1996)
   PUBMED   8910293
REFERENCE   8  (bases 1 to 2411)
  AUTHORS   Chireux,M.A., Le Van Thai,A. and Weber,M.J.
  TITLE     Human choline acetyltransferase gene: localization of alternative
            first exons
  JOURNAL   J Neurosci Res 40 (4), 427-438 (1995)
   PUBMED   7616604
REFERENCE   9  (bases 1 to 2411)
  AUTHORS   Schafer,M.K., Weihe,E., Erickson,J.D. and Eiden,L.E.
  TITLE     Human and monkey cholinergic neurons visualized in
            paraffin-embedded tissues by immunoreactivity for VAChT, the
            vesicular acetylcholine transporter
  JOURNAL   J Mol Neurosci 6 (4), 225-235 (1995)
   PUBMED   8860234
REFERENCE   10 (bases 1 to 2411)
  AUTHORS   Erickson,J.D., Varoqui,H., Schafer,M.K., Modi,W., Diebler,M.F.,
            Weihe,E., Rand,J., Eiden,L.E., Bonner,T.I. and Usdin,T.B.
  TITLE     Functional identification of a vesicular acetylcholine transporter
            and its expression from a 'cholinergic' gene locus
  JOURNAL   J Biol Chem 269 (35), 21929-21932 (1994)
   PUBMED   8071310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U09210.1, BC007765.2 and
            AC073366.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003055.2.
            
            Summary: This gene is a member of the vesicular amine transporter
            family. The encoded transmembrane protein transports acetylcholine
            into secretory vesicles for release into the extracellular space.
            Acetylcholine transport utilizes a proton gradient established by a
            vacuolar ATPase. This gene is located within the first intron of
            the choline acetyltransferase gene. [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 is intronless :: BC007765.2, U09210.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374115.5/ ENSP00000363229.3
            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                U09210.1           10-74
            66-406              BC007765.2         1-341
            407-407             AC073366.4         92684-92684         c
            408-1989            BC007765.2         343-1924
            1990-2069           AC073366.4         91022-91101         c
            2070-2411           BC007765.2         2005-2346
FEATURES             Location/Qualifiers
     source          1..2411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..2411
                     /gene="SLC18A3"
                     /gene_synonym="CMS21; VACHT"
                     /note="solute carrier family 18 member A3"
                     /db_xref="GeneID:6572"
                     /db_xref="HGNC:HGNC:10936"
                     /db_xref="MIM:600336"
     exon            1..2411
                     /gene="SLC18A3"
                     /gene_synonym="CMS21; VACHT"
                     /inference="alignment:Splign:2.1.0"
     CDS             432..2030
                     /gene="SLC18A3"
                     /gene_synonym="CMS21; VACHT"
                     /note="solute carrier family 18, member 3; solute carrier
                     family 18 (vesicular acetylcholine), member 3; solute
                     carrier family 18 (vesicular acetylcholine transporter),
                     member 3"
                     /codon_start=1
                     /product="vesicular acetylcholine transporter"
                     /protein_id="NP_003046.2"
                     /db_xref="CCDS:CCDS7231.1"
                     /db_xref="GeneID:6572"
                     /db_xref="HGNC:HGNC:10936"
                     /db_xref="MIM:600336"
                     /translation="MESAEPAGQARAAATKLSEAVGAALQEPRRQRRLVLVIVCVALL
                     LDNMLYMVIVPIVPDYIAHMRGGGEGPTRTPEVWEPTLPLPTPANASAYTANTSASPT
                     AAWPAGSALRPRYPTESEDVKIGVLFASKAILQLLVNPLSGPFIDRMSYDVPLLIGLG
                     VMFASTVLFAFAEDYATLFAARSLQGLGSAFADTSGIAMIADKYPEEPERSRALGVAL
                     AFISFGSLVAPPFGGILYEFAGKRVPFLVLAAVSLFDALLLLAVAKPFSAAARARANL
                     PVGTPIHRLMLDPYIAVVAGALTTCNIPLAFLEPTIATWMKHTMAASEWEMGMAWLPA
                     FVPHVLGVYLTVRLAARYPHLQWLYGALGLAVIGASSCIVPACRSFAPLVVSLCGLCF
                     GIALVDTALLPTLAFLVDVRHVSVYGSVYAIADISYSVAYALGPIVAGHIVHSLGFEQ
                     LSLGMGLANLLYAPVLLLLRNVGLLTRSRSERDVLLDEPPQGLYDAVRLRERPVSGQD
                     GEPRSPPGPFDACEDDYNYYYTRS"
     regulatory      2389..2394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC18A3"
                     /gene_synonym="CMS21; VACHT"
                     /note="hexamer: AATAAA"
     polyA_site      2411
                     /gene="SLC18A3"
                     /gene_synonym="CMS21; VACHT"
                     /note="major polyA site"
ORIGIN      
        1 aagagccgac gcgaggggag gggagcgcag cggcggggct aacgggcggg caagcgggcg
       61 ggcggcaaca gcatgtccct cggccagcgc gggcggcctc ttagcgcggc gggggctgct
      121 ctgggcgcgc cccgggcgaa gtgcgcccag tctccggccc cggcccctcg gcgcgcccga
      181 cttcccggcc gcccctgagc ccagcagccg cgggtcccgg gatcggctaa gagtagctgc
      241 aacgcctcgc cggacggagt cctttccttt cccgggacgc tgggccatga gctccgcggc
      301 cacctgaggc acaggggagt ctgctcggcc aggacagcct ccccgaagtc ccgtgccctc
      361 gcctctgcac tgcgggacgc cagcgctcgg ccctggcgga ggcgtcctcg gaagagcatc
      421 ggggtggggg catggaatcc gcggaacctg cgggccaggc ccgggcggcg gccaccaagc
      481 tgtcggaggc tgtgggcgcg gcgctgcagg agccccggcg gcagaggcgc ctggtgcttg
      541 ttatcgtgtg cgtggcgctg ttactggaca acatgctgta catggtcatc gtgcccatag
      601 tgcccgacta catcgcccac atgcgcgggg gcggcgaggg ccccacccgg actcccgagg
      661 tgtgggagcc caccctgccg ctgcccactc cggccaatgc cagcgcctac acggccaaca
      721 cctcggcgtc cccgacagct gcgtggccag cgggctcagc ccttcggccc cgctacccta
      781 cggagagcga agacgtgaag atcggggtgc tgtttgcttc caaggctatc ctgcagctgc
      841 tagtgaaccc cttgagcggg cccttcatcg accgcatgag ctacgacgtg ccgctgctga
      901 tcggcctggg cgtcatgttc gcctctacag tcctgttcgc cttcgccgag gactacgcca
      961 cgctgttcgc ggcgcgcagc ctgcagggcc tgggctcagc cttcgccgac acgtctggca
     1021 tagccatgat cgccgataag tacccggagg agccggagcg cagtcgtgca ctgggcgtgg
     1081 cgctggcctt cattagcttc ggaagcctag tggccccgcc cttcgggggc atcctctatg
     1141 agttcgccgg caagcgcgtg cccttcttgg tgctagctgc cgtgtcgctc tttgacgcgc
     1201 tgttgctgct ggcagtggcc aaacccttct cggcggctgc acgggctcgg gccaacctgc
     1261 cagtgggcac tcccatccac cgcctcatgc tagaccccta cattgccgtg gtggccggcg
     1321 cgctcaccac ctgtaacatt cccctcgcct tcctcgaacc caccattgcc acgtggatga
     1381 agcatacgat ggcggcttcc gagtgggaga tgggcatggc ctggctgccg gccttcgtgc
     1441 ctcatgtgct gggcgtctac ctcaccgtgc gcctggcggc gcgctaccca cacctgcagt
     1501 ggctgtacgg cgcgcttggg ctggctgtga tcggcgccag ctcgtgcatc gtgcccgcct
     1561 gccgctcctt cgcgccgcta gtggtctcac tatgcggcct ctgttttggc atagccctag
     1621 tcgacacagc actgctgccc acgctcgcct tcctggtgga cgtgcgccat gtctcagtct
     1681 atggcagcgt ctacgccatc gccgacatct cctattcggt ggcctacgcg ctcgggccca
     1741 tagtggcagg ccacattgtg cactcgctgg gctttgagca gctcagcctt ggcatgggac
     1801 tggccaacct gctctatgct cccgtcttgc tgctgctccg caacgtgggc ctcctgacgc
     1861 gctcccgttc cgagcgcgat gtgctgcttg atgagccacc gcaaggtctg tacgatgcgg
     1921 tgcgcctgcg tgagcgtcct gtgtctggcc aggacggcga gcctcgcagc ccgcctggcc
     1981 cttttgatgc gtgcgaggac gactacaact actactacac ccgcagctag catccccact
     2041 cctcctccag cccacccaac cgccttgggt caagggggct gctctgcaag cccactggcc
     2101 agctctggct cagggcccac ctcctccagc gagtacccca gccactcctc aaccttgact
     2161 tctgcccaaa tcccctccct gtgacccgtt ccatatccct ttctctcttg tccaatgggg
     2221 cttggagcac cgaggccagc gaagccatcg cgctccttgc ggaggtgaag aggaccctga
     2281 gtccccacct gcggctcccc tgtgtagagc ctgcatctgt ctgtccttcc ttccattgct
     2341 cccagtgcca aacttgggcc gctgcaccgc ggcgcctccg cccaaatcaa taaactgtgt
     2401 ctgtcccagg a
//
