LOCUS       NM_001415941            4696 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens synaptotagmin 1 (SYT1), transcript variant 8, mRNA.
ACCESSION   NM_001415941 XM_005269113
VERSION     NM_001415941.1
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 4696)
  AUTHORS   Stephan,G., Haddock,S., Wang,S., Erdjument-Bromage,H., Liu,W.,
            Ravn-Boess,N., Frenster,J.D., Bready,D., Cai,J., Ronnen,R.,
            Sabio-Ortiz,J., Fenyo,D., Neubert,T.A. and Placantonakis,D.G.
  TITLE     Modulation of GPR133 (ADGRD1) signaling by its intracellular
            interaction partner extended synaptotagmin 1
  JOURNAL   Cell Rep 43 (5), 114229 (2024)
   PUBMED   38758649
  REMARK    GeneRIF: Modulation of GPR133 (ADGRD1) signaling by its
            intracellular interaction partner extended synaptotagmin 1.
REFERENCE   2  (bases 1 to 4696)
  AUTHORS   Zhang,J., Ren,G., Huang,T., Sang,Y., Zhong,Y. and Yi,Y.
  TITLE     miRNA-363-3p Hinders Proliferation, Migration, Invasion and
            Autophagy of Thyroid Cancer Cells by Controlling SYT1 Transcription
            to affect NF-kappaB
  JOURNAL   Endocr Metab Immune Disord Drug Targets 24 (1), 153-162 (2024)
   PUBMED   37150983
  REMARK    GeneRIF: miRNA-363-3p Hinders Proliferation, Migration, Invasion
            and Autophagy of Thyroid Cancer Cells by Controlling SYT1
            Transcription to affect NF-kappaB.
REFERENCE   3  (bases 1 to 4696)
  AUTHORS   Yamada,K., Motohashi,S., Oikawa,T., Tago,N., Koizumi,R., Ono,M.,
            Tachibana,T., Yoshida,A., Yoshida,S., Shimoda,M., Oka,M., Yoneda,Y.
            and Yoshida,K.
  TITLE     Extended-synaptotagmin 1 engages in unconventional protein
            secretion mediated via SEC22B+ vesicle pathway in liver cancer
  JOURNAL   Proc Natl Acad Sci U S A 119 (36), e2202730119 (2022)
   PUBMED   36044553
  REMARK    GeneRIF: Extended-synaptotagmin 1 engages in unconventional protein
            secretion mediated via SEC22B(+) vesicle pathway in liver cancer.
REFERENCE   4  (bases 1 to 4696)
  AUTHORS   Thibord,F., Chan,M.V., Chen,M.H. and Johnson,A.D.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   5  (bases 1 to 4696)
  AUTHORS   Melland,H., Bumbak,F., Kolesnik-Taylor,A., Ng-Cordell,E., John,A.,
            Constantinou,P., Joss,S., Larsen,M., Fagerberg,C., Laulund,L.W.,
            Thies,J., Emslie,F., Willemsen,M., Kleefstra,T., Pfundt,R.,
            Barrick,R., Chang,R., Loong,L., Alfadhel,M., van der Smagt,J.,
            Nizon,M., Kurian,M.A., Scott,D.J., Ziarek,J.J., Gordon,S.L. and
            Baker,K.
  TITLE     Expanding the genotype and phenotype spectrum of SYT1-associated
            neurodevelopmental disorder
  JOURNAL   Genet Med 24 (4), 880-893 (2022)
   PUBMED   35101335
  REMARK    GeneRIF: Expanding the genotype and phenotype spectrum of
            SYT1-associated neurodevelopmental disorder.
REFERENCE   6  (bases 1 to 4696)
  AUTHORS   McMahon,H.T., Missler,M., Li,C. and Sudhof,T.C.
  TITLE     Complexins: cytosolic proteins that regulate SNAP receptor function
  JOURNAL   Cell 83 (1), 111-119 (1995)
   PUBMED   7553862
REFERENCE   7  (bases 1 to 4696)
  AUTHORS   Chowdhury,D., Travis,G.H., Sutcliffe,J.G. and Burton,F.H.
  TITLE     Synaptotagmin I and 1B4 are identical: implications for
            synaptotagmin distribution in the primate brain
  JOURNAL   Neurosci Lett 190 (1), 9-12 (1995)
   PUBMED   7624059
REFERENCE   8  (bases 1 to 4696)
  AUTHORS   Mochly-Rosen,D., Miller,K.G., Scheller,R.H., Khaner,H., Lopez,J.
            and Smith,B.L.
  TITLE     p65 fragments, homologous to the C2 region of protein kinase C,
            bind to the intracellular receptors for protein kinase C
  JOURNAL   Biochemistry 31 (35), 8120-8124 (1992)
   PUBMED   1326322
REFERENCE   9  (bases 1 to 4696)
  AUTHORS   Perin,M.S., Johnston,P.A., Ozcelik,T., Jahn,R., Francke,U. and
            Sudhof,T.C.
  TITLE     Structural and functional conservation of synaptotagmin (p65) in
            Drosophila and humans
  JOURNAL   J Biol Chem 266 (1), 615-622 (1991)
   PUBMED   1840599
REFERENCE   10 (bases 1 to 4696)
  AUTHORS   Blaustein,R.O., Germann,W.J., Finkelstein,A. and DasGupta,B.R.
  TITLE     The N-terminal half of the heavy chain of botulinum type A
            neurotoxin forms channels in planar phospholipid bilayers
  JOURNAL   FEBS Lett 226 (1), 115-120 (1987)
   PUBMED   2446925
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073606.19, AC073616.17,
            AC073572.19, AC078917.14 and AC027288.26.
            
            On Jan 5, 2023 this sequence version replaced XM_005269113.4.
            
            Summary: This gene encodes a member of the synaptotagmin protein
            family. The synaptotagmins are integral membrane proteins of
            synaptic vesicles that serve as calcium sensors in the process of
            vesicular trafficking and exocytosis. The encoded protein
            participates in triggering neurotransmitter release at the synapse
            in response to calcium binding. Mutations in this gene are
            associated with Baker-Gordon syndrome. [provided by RefSeq, Jan
            2023].
            
            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 :: SRR1660803.80687.1,
                                           SRR1803615.65143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-336               AC073606.19        18646-18981
            337-469             AC073606.19        131671-131803
            470-535             AC073616.17        14301-14366
            536-718             AC073572.19        57576-57758
            719-903             AC078917.14        22733-22917
            904-1017            AC078917.14        28963-29076
            1018-1185           AC078917.14        33015-33182
            1186-1353           AC078917.14        36330-36497
            1354-1471           AC078917.14        90448-90565
            1472-1605           AC027288.26        152257-152390       c
            1606-4696           AC027288.26        144455-147545       c
FEATURES             Location/Qualifiers
     source          1..4696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.2"
     gene            1..4696
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /note="synaptotagmin 1"
                     /db_xref="GeneID:6857"
                     /db_xref="HGNC:HGNC:11509"
                     /db_xref="MIM:185605"
     exon            1..336
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            337..469
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            470..535
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            536..718
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     CDS             553..1812
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /note="isoform 2 is encoded by transcript variant 8; sytI;
                     synaptotagmin I"
                     /codon_start=1
                     /product="synaptotagmin-1 isoform 2"
                     /protein_id="NP_001402870.1"
                     /db_xref="GeneID:6857"
                     /db_xref="HGNC:HGNC:11509"
                     /db_xref="MIM:185605"
                     /translation="MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLK
                     EKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAI
                     NMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI
                     IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELG
                     GKTLVMAVYDFDRFSKHDIIGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICF
                     SLRYVPTAGKLTVVILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTIKKNTLN
                     PYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDML
                     ANPRRPIAQWHTLQVEEEVDAMLAVKK"
     exon            719..903
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1017
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1185
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1353
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1471
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1605
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1606..4696
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4671..4676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /note="hexamer: AATAAA"
     polyA_site      4696
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /note="major polyA site"
ORIGIN      
        1 agtgtctttc cacctcctcc tgcagcagcg gcagcggcag cagcagttag cagcggcaac
       61 ttgaggctgc accccgggca agtccccagg gtggtgctca gccgagaggg gggcttggcg
      121 ccccgaaggg gtgtgtgtag ggtgggggcg accacgtggg accagctggt ggccctggaa
      181 aacctcccac acacccacac ccacacaccc cttttgtgtt gcaggctgcc cctccaagag
      241 cggaggcagc gagagtacgc gtgtgcctcg cgccggtcca cgcggggaga gcactgggga
      301 ccgagacccg gcaccacctc ccggtccgcc ctccagggaa aacgggaaaa ctagcaagag
      361 ctagcaagaa ctagcaagag cttgaacaaa cgcctggact cagattggaa gactgctcat
      421 ttgtctactg cctcattcct ggaaattgca ctggaactgt ctgattaaga aaaacagaat
      481 aattctgaaa gaaagaaaac aaagaaaaac atactccaga attcctaata gaacacttca
      541 cctgaaccta aaatggtgag cgagagtcac catgaggccc tggcagcccc gcctgtcacc
      601 actgtcgcga ctgttctgcc aagcaacgcc acagagccag ccagtcctgg agaaggaaag
      661 gaagatgcat tttctaagct gaaggagaag tttatgaatg agttgcataa aattccattg
      721 ccaccgtggg ccttaattgc aatagccata gtcgcagtcc ttttagtcct gacctgctgc
      781 ttttgtatct gtaagaaatg tttgttcaaa aagaaaaaca agaagaaggg aaaggaaaaa
      841 ggagggaaga atgccattaa catgaaagat gtaaaagact tagggaagac gatgaaagat
      901 caggatgatg atgctgaaac tggattgaca gatggagaag aaaaagaaga acccaaagaa
      961 gaggagaaac tgggaaaact tcagtattca ctggattatg atttccaaaa taaccagctg
     1021 ctggtaggga tcattcaggc tgccgaactg cccgccttgg acatgggggg cacatctgat
     1081 ccttacgtga aagtgtttct gctacctgat aagaagaaga aatttgagac aaaagtccac
     1141 cgaaaaaccc ttaatcctgt cttcaatgag caatttactt tcaaggtacc atactcggaa
     1201 ttgggtggca aaaccctagt gatggctgta tatgattttg atcgtttctc taagcatgac
     1261 atcattggag aatttaaagt ccctatgaac acagtggatt ttggccatgt aactgaggaa
     1321 tggcgtgacc tgcaaagtgc tgagaaggaa gagcaagaga aattgggtga tatctgcttc
     1381 tcccttcgct acgtacctac tgctggtaag ctgactgttg tcattctgga ggcaaagaac
     1441 ctgaagaaga tggatgtggg tggcttatcc gatccttatg tgaagattca tctgatgcag
     1501 aatggtaaga ggctgaagaa gaaaaagaca acaattaaaa agaacacact taacccctac
     1561 tacaatgagt cattcagctt tgaagtacct tttgaacaaa tccagaaagt gcaggtggtg
     1621 gtaactgttt tggactatga caagattggc aagaacgatg ccatcggcaa agtctttgtg
     1681 ggctacaaca gcaccggcgc ggagctgcga cactggtcag acatgctggc caaccccagg
     1741 cgacctattg cccagtggca caccctgcag gtagaggagg aagttgatgc catgctggcc
     1801 gtcaagaagt aaaggaaaga agaagccttt ctgcatttgc ccatatagtg ctctttagcc
     1861 agtatctgta aatacctcag taatatgggt cctttcattt ttccagccat gcattcctaa
     1921 cacaattcag tggtacttgg aatcctgttt taatttgcac aaatttaaat gtagagagcc
     1981 cctaagtcct tcatcatacc actgccctcc aaatctactc ttcttttaag caatatgatg
     2041 tgtagataga gcatgaatga aattatttat tgtatcacac tgttgtatat accagtatgc
     2101 taaagattta tttctagttt gtgtatttgt atgttgtaag cgtttcctaa tctgtgtata
     2161 tctagatgtt tttaataaga tgttctattt taaactatgt aaattgactg agatatagga
     2221 gagctgataa tatattatac ggtaaatata gtatcgtctg cattccagca aaaatatcaa
     2281 ctcgtaaggc actagtacag ttaaactgac atcttaaagg acaacttaaa cctgagcttt
     2341 ctattgaatc atttgagtac caagataaac ttacaccaca tacttggtgg gtgaatccaa
     2401 ttttgtagaa ttcctacaca ggcaaaatag catgatctga gcagcagcat ccaggctgac
     2461 ctcaaggaag catagccaca aaacagaata gcacctgtct gtacatattt acaaagctaa
     2521 aataatggct tcactcttat atttgaggaa gcaactgaac aggagtcaat gatttcatat
     2581 tactgcatat agaataacaa caaggtgttc cgtgtgtgtg tgtgtgtgtg tgtgtgtgtg
     2641 tgtgtgcaca tttgtttggg gatgggggag aagaagctaa ggggagaagt caacatttat
     2701 gaaatattgc ctgactattt aaaaagaaaa aagtagctct ccattatcac ctttatacaa
     2761 aatgtacatc ctgtgaattc tgttccagat ttcacaccta caataattcc aaaaggtttg
     2821 cacattagag tttgtaacaa aatattttat tatataaaac caggttagaa ggaatgcagg
     2881 atatttttaa cacaacaatc tgtgcttatt acacaaaatt actttgtggt aaacagacag
     2941 tattgtaatc ccatcaaaag atgaaagaaa aacaaaaaca aaaaccaaca acaattagcc
     3001 atagttctga atgcacttca attaagccaa aacagacagc tagtgatctt tttatatgct
     3061 ctttttactt aagttttaat ttgtccttta aaaaaaggtg aaacaaacca agaacaagtt
     3121 ctagaaaact gaagcaacct cttatgtata ctagatgctt gatttaggag gagtttttaa
     3181 acgttttcaa tgttattatg tagtaaatga cactattatg aagctactag tcattccata
     3241 agagtcttaa aggactgctc tgtgtaacac tgtgactgcc gtgtgtgctt agacccgtag
     3301 tttcctcagt ggatagcact caatttattc cgtagtgata ttgtaacaat actgccattc
     3361 ccttctactg cactgcccaa ggtgtgtgta gcacaaacag ttctcattac aaaggaccaa
     3421 ttcagaactg aaaagctatg cataggacaa ggaagataca tagaatgggg tggaacacag
     3481 cattttgtca agcactgtgc aatattccat atttttcccc actatggtag acaaccattt
     3541 cgtggaaggg cagcctatta tcccacactg catctagcct tttgtcccat tcacttctgt
     3601 gatccatttt aatttccagg ccacaagaca gtagtgatgc tctgaaatga aagtttgtct
     3661 tcacaaatat caaaacaaaa tggaggaaaa ctaagcattg gcctcatgtt cagtcttcag
     3721 gatatcacac cacgtctttt caaaaactaa agagaattca aaaagggctg atggtaggct
     3781 ttgaacatgg ggttggctgt ttcccagtaa aactggaatt cctgtcgtta ctgtttcctt
     3841 atcaaagaag gggcaagctc ttttgccttt taggccagac atagcaaacg ctttataatt
     3901 ggcatagaca taaaggataa aaggaaaata accgtctgcc gatggtccgt acttcttaaa
     3961 aaacataggt aatagaaaat atacacaagt cagaatgtga aattaaataa tggtttgaac
     4021 agaaaattca aacaagactc tttccaattt aaagggccaa accctaccaa agagagggag
     4081 ttgactggct tttaaaaagt atttaaatac cacaaatgac atttaatttc actgtattca
     4141 gctttaagtt gttcacaatg aaaccacact ttcaaacaag caggttcaag ctgctgaata
     4201 gacattattt cttgcattaa aataccacta atgcattctc ttgcaacact gccagacatg
     4261 ggattgtcac catagaatta gttggtacta tgccatcttt cactctttca caagtcagtg
     4321 atggaacctg ctttatgacc aagattcatc ctcaaataag ccacatgtac ccttctgaca
     4381 aagctgtgta aagtattaga atctgatgct ctagaaagat cctagttgcc tttgtgtata
     4441 tttactgcct gcttgagtgt ttctatgtgt gggttttccc tgtatcttgt agaaatgttg
     4501 gggtgttttc ctctgccata tggctcgtgg cctgcgagcc aactatttca gctgtatttt
     4561 accttcattt ttgatgaggt gatttaaatt ttgtttcact ttgtgtagtg aattccacag
     4621 tagttttctg attgttgtta aaaatgactt aacatattac acagatattc aataaaaatg
     4681 ttttatttcc tgttga
//
