LOCUS       NM_005639               4705 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens synaptotagmin 1 (SYT1), transcript variant 1, mRNA.
ACCESSION   NM_005639
VERSION     NM_005639.3
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 4705)
  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 4705)
  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 4705)
  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 4705)
  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 4705)
  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 4705)
  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 4705)
  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 4705)
  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 4705)
  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 4705)
  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 Nov 23, 2018 this sequence version replaced NM_005639.2.
            
            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].
            
            Transcript Variant: This variant (1) encodes isoform 1. Variants 1,
            2, and 3 encode the same 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 :: SRR1660803.24033.1,
                                           SRR1660803.197773.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000261205.9/ ENSP00000261205.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
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
            904-1026            AC078917.14        28954-29076
            1027-1194           AC078917.14        33015-33182
            1195-1362           AC078917.14        36330-36497
            1363-1480           AC078917.14        90448-90565
            1481-1614           AC027288.26        152257-152390       c
            1615-4705           AC027288.26        144455-147545       c
FEATURES             Location/Qualifiers
     source          1..4705
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.2"
     gene            1..4705
                     /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..1821
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /note="isoform 1 is encoded by transcript variant 1; sytI;
                     synaptotagmin I"
                     /codon_start=1
                     /product="synaptotagmin-1 isoform 1"
                     /protein_id="NP_005630.1"
                     /db_xref="CCDS:CCDS9017.1"
                     /db_xref="GeneID:6857"
                     /db_xref="HGNC:HGNC:11509"
                     /db_xref="MIM:185605"
                     /translation="MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLK
                     EKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAI
                     NMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL
                     VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYS
                     ELGGKTLVMAVYDFDRFSKHDIIGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGD
                     ICFSLRYVPTAGKLTVVILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTIKKN
                     TLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWS
                     DMLANPRRPIAQWHTLQVEEEVDAMLAVKK"
     exon            719..903
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1026
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1194
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1362
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1480
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1614
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..4705
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4680..4685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYT1"
                     /gene_synonym="BAGOS; P65; SVP65; SYT"
                     /note="hexamer: AATAAA"
     polyA_site      4705
                     /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 caggccctca aggatgatga tgctgaaact ggattgacag atggagaaga aaaagaagaa
      961 cccaaagaag aggagaaact gggaaaactt cagtattcac tggattatga tttccaaaat
     1021 aaccagctgc tggtagggat cattcaggct gccgaactgc ccgccttgga catggggggc
     1081 acatctgatc cttacgtgaa agtgtttctg ctacctgata agaagaagaa atttgagaca
     1141 aaagtccacc gaaaaaccct taatcctgtc ttcaatgagc aatttacttt caaggtacca
     1201 tactcggaat tgggtggcaa aaccctagtg atggctgtat atgattttga tcgtttctct
     1261 aagcatgaca tcattggaga atttaaagtc cctatgaaca cagtggattt tggccatgta
     1321 actgaggaat ggcgtgacct gcaaagtgct gagaaggaag agcaagagaa attgggtgat
     1381 atctgcttct cccttcgcta cgtacctact gctggtaagc tgactgttgt cattctggag
     1441 gcaaagaacc tgaagaagat ggatgtgggt ggcttatccg atccttatgt gaagattcat
     1501 ctgatgcaga atggtaagag gctgaagaag aaaaagacaa caattaaaaa gaacacactt
     1561 aacccctact acaatgagtc attcagcttt gaagtacctt ttgaacaaat ccagaaagtg
     1621 caggtggtgg taactgtttt ggactatgac aagattggca agaacgatgc catcggcaaa
     1681 gtctttgtgg gctacaacag caccggcgcg gagctgcgac actggtcaga catgctggcc
     1741 aaccccaggc gacctattgc ccagtggcac accctgcagg tagaggagga agttgatgcc
     1801 atgctggccg tcaagaagta aaggaaagaa gaagcctttc tgcatttgcc catatagtgc
     1861 tctttagcca gtatctgtaa atacctcagt aatatgggtc ctttcatttt tccagccatg
     1921 cattcctaac acaattcagt ggtacttgga atcctgtttt aatttgcaca aatttaaatg
     1981 tagagagccc ctaagtcctt catcatacca ctgccctcca aatctactct tcttttaagc
     2041 aatatgatgt gtagatagag catgaatgaa attatttatt gtatcacact gttgtatata
     2101 ccagtatgct aaagatttat ttctagtttg tgtatttgta tgttgtaagc gtttcctaat
     2161 ctgtgtatat ctagatgttt ttaataagat gttctatttt aaactatgta aattgactga
     2221 gatataggag agctgataat atattatacg gtaaatatag tatcgtctgc attccagcaa
     2281 aaatatcaac tcgtaaggca ctagtacagt taaactgaca tcttaaagga caacttaaac
     2341 ctgagctttc tattgaatca tttgagtacc aagataaact tacaccacat acttggtggg
     2401 tgaatccaat tttgtagaat tcctacacag gcaaaatagc atgatctgag cagcagcatc
     2461 caggctgacc tcaaggaagc atagccacaa aacagaatag cacctgtctg tacatattta
     2521 caaagctaaa ataatggctt cactcttata tttgaggaag caactgaaca ggagtcaatg
     2581 atttcatatt actgcatata gaataacaac aaggtgttcc gtgtgtgtgt gtgtgtgtgt
     2641 gtgtgtgtgt gtgtgcacat ttgtttgggg atgggggaga agaagctaag gggagaagtc
     2701 aacatttatg aaatattgcc tgactattta aaaagaaaaa agtagctctc cattatcacc
     2761 tttatacaaa atgtacatcc tgtgaattct gttccagatt tcacacctac aataattcca
     2821 aaaggtttgc acattagagt ttgtaacaaa atattttatt atataaaacc aggttagaag
     2881 gaatgcagga tatttttaac acaacaatct gtgcttatta cacaaaatta ctttgtggta
     2941 aacagacagt attgtaatcc catcaaaaga tgaaagaaaa acaaaaacaa aaaccaacaa
     3001 caattagcca tagttctgaa tgcacttcaa ttaagccaaa acagacagct agtgatcttt
     3061 ttatatgctc tttttactta agttttaatt tgtcctttaa aaaaaggtga aacaaaccaa
     3121 gaacaagttc tagaaaactg aagcaacctc ttatgtatac tagatgcttg atttaggagg
     3181 agtttttaaa cgttttcaat gttattatgt agtaaatgac actattatga agctactagt
     3241 cattccataa gagtcttaaa ggactgctct gtgtaacact gtgactgccg tgtgtgctta
     3301 gacccgtagt ttcctcagtg gatagcactc aatttattcc gtagtgatat tgtaacaata
     3361 ctgccattcc cttctactgc actgcccaag gtgtgtgtag cacaaacagt tctcattaca
     3421 aaggaccaat tcagaactga aaagctatgc ataggacaag gaagatacat agaatggggt
     3481 ggaacacagc attttgtcaa gcactgtgca atattccata tttttcccca ctatggtaga
     3541 caaccatttc gtggaagggc agcctattat cccacactgc atctagcctt ttgtcccatt
     3601 cacttctgtg atccatttta atttccaggc cacaagacag tagtgatgct ctgaaatgaa
     3661 agtttgtctt cacaaatatc aaaacaaaat ggaggaaaac taagcattgg cctcatgttc
     3721 agtcttcagg atatcacacc acgtcttttc aaaaactaaa gagaattcaa aaagggctga
     3781 tggtaggctt tgaacatggg gttggctgtt tcccagtaaa actggaattc ctgtcgttac
     3841 tgtttcctta tcaaagaagg ggcaagctct tttgcctttt aggccagaca tagcaaacgc
     3901 tttataattg gcatagacat aaaggataaa aggaaaataa ccgtctgccg atggtccgta
     3961 cttcttaaaa aacataggta atagaaaata tacacaagtc agaatgtgaa attaaataat
     4021 ggtttgaaca gaaaattcaa acaagactct ttccaattta aagggccaaa ccctaccaaa
     4081 gagagggagt tgactggctt ttaaaaagta tttaaatacc acaaatgaca tttaatttca
     4141 ctgtattcag ctttaagttg ttcacaatga aaccacactt tcaaacaagc aggttcaagc
     4201 tgctgaatag acattatttc ttgcattaaa ataccactaa tgcattctct tgcaacactg
     4261 ccagacatgg gattgtcacc atagaattag ttggtactat gccatctttc actctttcac
     4321 aagtcagtga tggaacctgc tttatgacca agattcatcc tcaaataagc cacatgtacc
     4381 cttctgacaa agctgtgtaa agtattagaa tctgatgctc tagaaagatc ctagttgcct
     4441 ttgtgtatat ttactgcctg cttgagtgtt tctatgtgtg ggttttccct gtatcttgta
     4501 gaaatgttgg ggtgttttcc tctgccatat ggctcgtggc ctgcgagcca actatttcag
     4561 ctgtatttta ccttcatttt tgatgaggtg atttaaattt tgtttcactt tgtgtagtga
     4621 attccacagt agttttctga ttgttgttaa aaatgactta acatattaca cagatattca
     4681 ataaaaatgt tttatttcct gttga
//
