LOCUS       NM_014231               2736 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens vesicle associated membrane protein 1 (VAMP1),
            transcript variant 1, mRNA.
ACCESSION   NM_014231
VERSION     NM_014231.5
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 2736)
  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 2736)
  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 2736)
  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 2736)
  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 2736)
  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 2736)
  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 2736)
  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 2736)
  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 2736)
  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 2736)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_014231.4.
            
            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 (1), also known as VAMP-1A,
            encodes the longest isoform (1).
            
            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 :: SRR1660803.5491.1,
                                           SRR1803613.57314.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156266 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396308.4/ ENSP00000379602.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-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
            487-2736            AC005840.2         20258-22507
FEATURES             Location/Qualifiers
     source          1..2736
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2736
                     /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..503
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vesicle-associated membrane protein 1 (synaptobrevin 1);
                     spastic ataxia 1 (autosomal dominant)"
                     /codon_start=1
                     /product="vesicle-associated membrane protein 1 isoform 1"
                     /protein_id="NP_055046.1"
                     /db_xref="CCDS:CCDS41740.1"
                     /db_xref="GeneID:6843"
                     /db_xref="HGNC:HGNC:12642"
                     /db_xref="MIM:185880"
                     /translation="MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEV
                     VDIIRVNVDKVLERDQKLSELDDRADALQAGASQFESSAAKLKRKYWWKNCKMMIMLG
                     AICAIIVVVIVIYFFT"
     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..2736
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2715..2720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VAMP1"
                     /gene_synonym="CMS25; SAX1; SPAX1; SYB1; VAMP-1"
                     /note="hexamer: AATACA"
     polyA_site      2736
                     /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 ttgtaatcta cttttttact tgagaatgta ccaccccttc cctgttgtcc attgccatcc
      541 acattcatgt cctctgccct ctgtttgctc tctcaacaca cttccccacc caccgtcctc
      601 cattccagcc caggcttctc catcacccat tcctcctttt tcgttgcgtt catttgcact
      661 ctgtccctca acactagaaa tgctgctcgt ggcacaatct aagtcattac ccgaagagca
      721 acagctggcg cctcctccct gcctgctttt tctgtactct caagttcccc caaagcccca
      781 aagagttgga ggccaaggga aggggcaggg aggggagtgg ctgaggcgaa gtacccatga
      841 agctgcccag acttgggagg agaagagtat cggtgcccat ggtgacttct agaaaacctg
      901 gccactggta ggagctaggg aggggctggg aagatggcag ctcactcagt actgcctggt
      961 catgtggagc tttccttcct ggaccaggcc tgaagagggt cctgggggtg gaccaaagtc
     1021 caacttggtt tcagtgcagt acccttttcg aaagtaaaaa cttgtttttt gtagttattt
     1081 ctaatctgtt cgtccaggat tttccgtgtc tttggggatc ttacaacttt actttgttct
     1141 ccagaggcct ggagaacact tagggattgt gaaaatagca ggacttgttt ccatcctaga
     1201 agcagtccca tgtgcttcta gctggaagga gctttctctt ctttacattt tctacagcat
     1261 tctgtatgag ggcaccaaat aaatccatct agctggtagt tttatctagc caaataattt
     1321 aacctagctc ccagttaatt gttggcataa agagagagat tgcctgttag ttatagagaa
     1381 acagtgagtc aagtgcttaa tttgaaagta acaagctcag aggaagccac tccttgccct
     1441 cgttaaagag ggtcctgttc ctctcttcct gttgatgaag gagcgtgagg gtgttagcag
     1501 tgtgagatct ttggacaccc atggaatcct ttcctccaca ccacccgtgc acttgccaaa
     1561 gacagggatg aggcaagtgg ttcttcctgg ggcccggccg atcctcagga tgcagagaag
     1621 tcatgtagac ccaccagccc caccttgggg ggaggcgtgc cagcctgtgt caggtgtgct
     1681 tgtgtattgc tgtgctgtca tggggccctc tccttgagag ccgcctctct gttcttcctg
     1741 tagtatattc ccctttgaac caccctttcc tgtctgaatt ctactttgcc tcctttctct
     1801 tcctcctctt tgcatggttt gtgtgtatag acagtggaac ctgaggatgg gatctgctca
     1861 gcctatcttc ggggcaattg ctgagcttca ggatgggcta ttaatgtggg ataagcccag
     1921 gtgcaagggg aggagggcag gctgggaaca gagcggagaa tgcccatggc cctttattcc
     1981 ttcttccctc ggtccacgaa caggaagagg ctgaggccat gctgggcagg gtctggatgc
     2041 ccactttcca tgcagcagca tttcattgct caaaaccatc cttcctttcc tttcgccctt
     2101 gtttcccaca ttcccttcgt cctgcccaag ggcgggactg aagagctgga agaaagcagt
     2161 cagtaccctc ccaacggccc ccctcgaagg tctccactct cctctgggct cctccttgcc
     2221 taatgcaggg ggtcaccgct ggagaagaac caccactgtc ctcgatgtgt cccaagcctg
     2281 gagcgaatcc gtcctcttgg ctctcccagc cctatcacag gaatcattcc tgggtttctg
     2341 tccctctgag gctcaccagg tgtagttggc cttgttcttt gggggtatta gcccttctac
     2401 tttctttctc acccaccctg taccctcttc tgtgtgtctc tgctatcccc ctttcctccc
     2461 accacccatg tgcatgagca aatgtgcaac aaaaccctgg gactttgcag tcaaatgaag
     2521 ctgagcttcc cacatcccgt tcttcggttt gccatgagac gatgtggggt ttccactgtg
     2581 tgtctgtcat cacctctttg tctttttttc ctaaccctga tctcatactt gtatagagta
     2641 ataacaacag ttgtacttcc accaaaggca tgtggcatat ttaccaatgt catgtattct
     2701 gaacaaaggc aaaaaataca aattcctacc attaaa
//
