LOCUS       NM_016830               1092 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens vesicle associated membrane protein 1 (VAMP1),
            transcript variant 3, mRNA.
ACCESSION   NM_016830
VERSION     NM_016830.4
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 1092)
  AUTHORS   Cotrina-Vinagre,F.J., Rodriguez-Garcia,M.E., Del Pozo-Filiu,L.,
            Hernandez-Lain,A., Arteche-Lopez,A., Morte,B., Sevilla,M.,
            Perez-Jurado,L.A., Quijada-Fraile,P., Camacho,A. and
            Martinez-Azorin,F.
  TITLE     Expanding the genetic and phenotypic spectrum of congenital
            myasthenic syndrome: new homozygous VAMP1 splicing variants in 2
            novel individuals
  JOURNAL   J Hum Genet 69 (5), 187-196 (2024)
   PUBMED   38355957
  REMARK    GeneRIF: Expanding the genetic and phenotypic spectrum of
            congenital myasthenic syndrome: new homozygous VAMP1 splicing
            variants in 2 novel individuals.
REFERENCE   2  (bases 1 to 1092)
  AUTHORS   Dalmaz,C., Barth,B., Pokhvisneva,I., Wang,Z., Patel,S.,
            Quillfeldt,J.A., Mendonca Filho,E.J., de Lima,R.M.S., Arcego,D.M.,
            Sassi,R.B., Hall,G.B.C., Kobor,M.S., Meaney,M.J. and Silveira,P.P.
  TITLE     Prefrontal cortex VAMP1 gene network moderates the effect of the
            early environment on cognitive flexibility in children
  JOURNAL   Neurobiol Learn Mem 185, 107509 (2021)
   PUBMED   34454100
  REMARK    GeneRIF: Prefrontal cortex VAMP1 gene network moderates the effect
            of the early environment on cognitive flexibility in children.
REFERENCE   3  (bases 1 to 1092)
  AUTHORS   Polavarapu,K., Vengalil,S., Preethish-Kumar,V., Arunachal,G.,
            Nashi,S., Mohan,D., Chawla,T., Bardhan,M., Nandeesh,B., Gupta,P.,
            Gowda,V.K., Lochmuller,H. and Nalini,A.
  TITLE     Recessive VAMP1 mutations associated with severe congenital
            myasthenic syndromes - A recognizable clinical phenotype
  JOURNAL   Eur J Paediatr Neurol 31, 54-60 (2021)
   PUBMED   33631708
  REMARK    GeneRIF: Recessive VAMP1 mutations associated with severe
            congenital myasthenic syndromes - A recognizable clinical
            phenotype.
REFERENCE   4  (bases 1 to 1092)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1092)
  AUTHORS   Bourassa,C.V., Meijer,I.A., Merner,N.D., Grewal,K.K.,
            Stefanelli,M.G., Hodgkinson,K., Ives,E.J., Pryse-Phillips,W.,
            Jog,M., Boycott,K., Grimes,D.A., Goobie,S., Leckey,R., Dion,P.A.
            and Rouleau,G.A.
  TITLE     VAMP1 mutation causes dominant hereditary spastic ataxia in
            Newfoundland families
  JOURNAL   Am J Hum Genet 91 (3), 548-552 (2012)
   PUBMED   22958904
  REMARK    GeneRIF: This report identifies vesicle-associated membrane protein
            1 (VAMP1), which encodes a critical protein for synaptic
            exocytosis, as the responsible gene fora dominantly inherited
            spastic ataxia
REFERENCE   6  (bases 1 to 1092)
  AUTHORS   Berglund,L., Hoffmann,H.J., Dahl,R. and Petersen,T.E.
  TITLE     VAMP-1 has a highly variable C-terminus generated by alternative
            splicing
  JOURNAL   Biochem Biophys Res Commun 264 (3), 777-780 (1999)
   PUBMED   10544008
REFERENCE   7  (bases 1 to 1092)
  AUTHORS   Jagadish,M.N., Fernandez,C.S., Hewish,D.R., Macaulay,S.L.,
            Gough,K.H., Grusovin,J., Verkuylen,A., Cosgrove,L., Alafaci,A.,
            Frenkel,M.J. and Ward,C.W.
  TITLE     Insulin-responsive tissues contain the core complex protein SNAP-25
            (synaptosomal-associated protein 25) A and B isoforms in addition
            to syntaxin 4 and synaptobrevins 1 and 2
  JOURNAL   Biochem J 317 (Pt 3) (Pt 3), 945-954 (1996)
   PUBMED   8760387
REFERENCE   8  (bases 1 to 1092)
  AUTHORS   Ravichandran,V., Chawla,A. and Roche,P.A.
  TITLE     Identification of a novel syntaxin- and synaptobrevin/VAMP-binding
            protein, SNAP-23, expressed in non-neuronal tissues
  JOURNAL   J Biol Chem 271 (23), 13300-13303 (1996)
   PUBMED   8663154
REFERENCE   9  (bases 1 to 1092)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   10 (bases 1 to 1092)
  AUTHORS   Archer,B.T. 3rd, Ozcelik,T., Jahn,R., Francke,U. and Sudhof,T.C.
  TITLE     Structures and chromosomal localizations of two human genes
            encoding synaptobrevins 1 and 2
  JOURNAL   J Biol Chem 265 (28), 17267-17273 (1990)
   PUBMED   1976629
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005840.2.
            
            On Jun 2, 2019 this sequence version replaced NM_016830.3.
            
            Summary: Synapotobrevins, syntaxins, and the
            synaptosomal-associated protein SNAP25 are the main components of a
            protein complex involved in the docking and/or fusion of synaptic
            vesicles with the presynaptic membrane. The protein encoded by this
            gene is a member of the vesicle-associated membrane protein
            (VAMP)/synaptobrevin family. Mutations in this gene are associated
            with autosomal dominant spastic ataxia 1. Multiple alternative
            splice variants have been described, but the full-length nature of
            some variants has not been defined. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (3), also known as VAMP-1B,
            contains an alternate 3' terminal exon, resulting in a novel 3'
            coding region and 3' UTR compared to variant 1. The encoded isoform
            (3) has a distinct C-terminus and is shorter than isoform 1.
            Isoforms 3 and 4 are the same length but differ in their C-termini.
            
            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 :: SRR5189667.2897.1,
                                           SRR1163655.267688.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2150385
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-148               AC005840.2         14067-14214
            149-275             AC005840.2         18393-18519
            276-434             AC005840.2         18744-18902
            435-486             AC005840.2         19803-19854
            487-1092            AC005840.2         21902-22507
FEATURES             Location/Qualifiers
     source          1..1092
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..1092
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /note="vesicle associated membrane protein 1"
                     /db_xref="GeneID:6843"
                     /db_xref="HGNC:HGNC:12642"
                     /db_xref="MIM:185880"
     exon            1..148
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             147..497
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     vesicle-associated membrane protein 1 (synaptobrevin 1);
                     spastic ataxia 1 (autosomal dominant)"
                     /codon_start=1
                     /product="vesicle-associated membrane protein 1 isoform 3"
                     /protein_id="NP_058439.1"
                     /db_xref="CCDS:CCDS44809.1"
                     /db_xref="GeneID:6843"
                     /db_xref="HGNC:HGNC:12642"
                     /db_xref="MIM:185880"
                     /translation="MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEV
                     VDIIRVNVDKVLERDQKLSELDDRADALQAGASQFESSAAKLKRKYWWKNCKMMIMLG
                     AICAIIVVVIVRRD"
     exon            149..275
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            276..434
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            435..486
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            487..1092
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1071..1076
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /note="hexamer: AATACA"
     polyA_site      1092
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /note="major polyA site"
ORIGIN      
        1 agtaagttcc agcgcagcta gaccgcgggg tagtcggcgc gaggcggagc ttggcagttc
       61 cgtccacttc agccgcagcg tccctcaccg ggtgtctcgc cgcagcctcc ggagaggaac
      121 agaccctcac tctctctgtc agaaaaatgt ctgctccagc tcagccacct gctgaaggga
      181 cagaagggac tgccccaggt gggggtcccc ctggccctcc tcctaacatg accagtaaca
      241 gacgactaca gcaaacccag gcacaagtgg aggaggtggt ggacatcata cgtgtgaacg
      301 tggacaaggt cctggagagg gaccagaagc tgtcagagct ggatgaccga gctgatgcct
      361 tgcaggcagg agcatcacaa tttgagagca gtgctgccaa gctaaagagg aagtattggt
      421 ggaaaaactg caagatgatg atcatgctgg gagccatctg tgccatcatc gtggtagtta
      481 ttgtaaggcg ggactgaaga gctggaagaa agcagtcagt accctcccaa cggcccccct
      541 cgaaggtctc cactctcctc tgggctcctc cttgcctaat gcagggggtc accgctggag
      601 aagaaccacc actgtcctcg atgtgtccca agcctggagc gaatccgtcc tcttggctct
      661 cccagcccta tcacaggaat cattcctggg tttctgtccc tctgaggctc accaggtgta
      721 gttggccttg ttctttgggg gtattagccc ttctactttc tttctcaccc accctgtacc
      781 ctcttctgtg tgtctctgct atcccccttt cctcccacca cccatgtgca tgagcaaatg
      841 tgcaacaaaa ccctgggact ttgcagtcaa atgaagctga gcttcccaca tcccgttctt
      901 cggtttgcca tgagacgatg tggggtttcc actgtgtgtc tgtcatcacc tctttgtctt
      961 tttttcctaa ccctgatctc atacttgtat agagtaataa caacagttgt acttccacca
     1021 aaggcatgtg gcatatttac caatgtcatg tattctgaac aaaggcaaaa aatacaaatt
     1081 cctaccatta aa
//
