LOCUS       NM_001253772            4472 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens synaptotagmin 6 (SYT6), transcript variant 1, mRNA.
ACCESSION   NM_001253772
VERSION     NM_001253772.2
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 4472)
  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   2  (bases 1 to 4472)
  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   3  (bases 1 to 4472)
  AUTHORS   McGue,M., Zhang,Y., Miller,M.B., Basu,S., Vrieze,S., Hicks,B.,
            Malone,S., Oetting,W.S. and Iacono,W.G.
  TITLE     A genome-wide association study of behavioral disinhibition
  JOURNAL   Behav Genet 43 (5), 363-373 (2013)
   PUBMED   23942779
REFERENCE   4  (bases 1 to 4472)
  AUTHORS   Rafiq,S., Tapper,W., Collins,A., Khan,S., Politopoulos,I.,
            Gerty,S., Blomqvist,C., Couch,F.J., Nevanlinna,H., Liu,J. and
            Eccles,D.
  TITLE     Identification of inherited genetic variations influencing
            prognosis in early-onset breast cancer
  JOURNAL   Cancer Res 73 (6), 1883-1891 (2013)
   PUBMED   23319801
REFERENCE   5  (bases 1 to 4472)
  AUTHORS   Dalgin,G.S., Drever,M., Williams,T., King,T., DeLisi,C. and
            Liou,L.S.
  TITLE     Identification of novel epigenetic markers for clear cell renal
            cell carcinoma
  JOURNAL   J Urol 180 (3), 1126-1130 (2008)
   PUBMED   18639284
  REMARK    GeneRIF: SYT6 is hypermethylated in renal cell carcinoma.
REFERENCE   6  (bases 1 to 4472)
  AUTHORS   Roggero,C.M., Tomes,C.N., De Blas,G.A., Castillo,J., Michaut,M.A.,
            Fukuda,M. and Mayorga,L.S.
  TITLE     Protein kinase C-mediated phosphorylation of the two polybasic
            regions of synaptotagmin VI regulates their function in acrosomal
            exocytosis
  JOURNAL   Dev Biol 285 (2), 422-435 (2005)
   PUBMED   16111671
  REMARK    GeneRIF: Acrosomal exocytosis is regulated through the PKC-mediated
            phosphorylation of conserved threonines in the polybasic regions of
            synaptotagmin VI.
REFERENCE   7  (bases 1 to 4472)
  AUTHORS   Craxton,M.
  TITLE     Genomic analysis of synaptotagmin genes
  JOURNAL   Genomics 77 (1-2), 43-49 (2001)
   PUBMED   11543631
REFERENCE   8  (bases 1 to 4472)
  AUTHORS   Michaut,M., De Blas,G., Tomes,C.N., Yunes,R., Fukuda,M. and
            Mayorga,L.S.
  TITLE     Synaptotagmin VI participates in the acrosome reaction of human
            spermatozoa
  JOURNAL   Dev Biol 235 (2), 521-529 (2001)
   PUBMED   11437455
REFERENCE   9  (bases 1 to 4472)
  AUTHORS   Perin,M.S.
  TITLE     Mirror image motifs mediate the interaction of the COOH terminus of
            multiple synaptotagmins with the neurexins and calmodulin
  JOURNAL   Biochemistry 35 (43), 13808-13816 (1996)
   PUBMED   8901523
REFERENCE   10 (bases 1 to 4472)
  AUTHORS   Li,C., Ullrich,B., Zhang,J.Z., Anderson,R.G., Brose,N. and
            Sudhof,T.C.
  TITLE     Ca(2+)-dependent and -independent activities of neural and
            non-neural synaptotagmins
  JOURNAL   Nature 375 (6532), 594-599 (1995)
   PUBMED   7791877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162594.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 26, 2018 this sequence version replaced NM_001253772.1.
            
            Summary: The protein encoded by this gene belongs to the
            synaptotagmin family. Synaptotagmins share a common domain
            structure that includes a transmembrane domain and a cytoplasmic
            region composed of 2 C2 domains, and are involved in
            calcium-dependent exocytosis of synaptic vesicles. This protein has
            been shown to be a key component of the secretory machinery
            involved in acrosomal exocytosis. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Dec
            2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1660803.256016.1,
                                           SRR1660807.19470.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610222.3/ ENSP00000476396.1
            NMD candidate          :: PMID: 11437455, 16111671
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-260               AL162594.13        88777-89036         c
            261-609             AL162594.13        74782-75130         c
            610-1168            AL162594.13        72662-73220         c
            1169-1289           AL162594.13        38768-38888         c
            1290-1461           AL162594.13        34261-34432         c
            1462-1612           AL162594.13        32894-33044         c
            1613-1681           AL162594.13        28902-28970         c
            1682-4472           AL162594.13        24459-27249         c
FEATURES             Location/Qualifiers
     source          1..4472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..4472
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="synaptotagmin 6"
                     /db_xref="GeneID:148281"
                     /db_xref="HGNC:HGNC:18638"
                     /db_xref="MIM:607718"
     exon            1..260
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1630
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="isoform a is encoded by transcript variant 1;
                     synaptotagmin VI"
                     /codon_start=1
                     /product="synaptotagmin-6 isoform a"
                     /protein_id="NP_001240701.1"
                     /db_xref="CCDS:CCDS91027.1"
                     /db_xref="GeneID:148281"
                     /db_xref="HGNC:HGNC:18638"
                     /db_xref="MIM:607718"
                     /translation="MSGVWGAGGPRCQEALAVLASLCRARPPPLGLDVETCRSFELQP
                     PERSPSAAGAGTSVSLLAVVVIVCGVALVAVFLFLFWKLCWMPWRNKEASSPSSANPP
                     LEALQSPSFRGNMADKLKDPSTLGFLEAAVKISHTSPDIPAEVQMSVKEHIMRHTRLQ
                     RQTTEPASSTRHTSFKRHLPRQMHVSSVDYGNELPPAAEQPTSIGRIKPELYKQKSVD
                     GEDAKSEATKSCGKINFSLRYDYETETLIVRILKAFDLPAKDFCGSSDPYVKIYLLPD
                     RKCKLQTRVHRKTLNPTFDENFHFPVPYEELADRKLHLSVFDFDRFSRHDMIGEVILD
                     NLFEASDLSRETSIWKDIQYATSESVDLGEIMFSLCYLPTAGRLTLTVIKCRNLKAMD
                     ITGYSDPYVKVSLLCDGRRLKKKKTTIKKNTLNPVYNEAIIFDIPPENMDQVSLLISV
                     MDYDRVGHNEIIGVCRVGITAEGLGRDHWNEMLAYPRKPIAHWHSLVEVKKSFKEGNP
                     RL"
     exon            261..609
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            610..1168
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1289
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1461
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1612
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1681
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1682..4472
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4450..4455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="hexamer: ATTAAA"
     polyA_site      4472
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="major polyA site"
ORIGIN      
        1 gctgcaggga gggtcttctt ggggccgtcg tgccccgccc cagtgcggcc ggggcgcggg
       61 ttcgagctgc tgctcggcaa gcctgggtgt ctagggcatg agcggagtgt ggggggccgg
      121 cgggcctcgg tgccaggagg cgctcgcggt cctcgcctcg ctgtgccggg cccggccgcc
      181 ccctctcggg ctggacgtgg agacttgtcg gagcttcgag ctgcagcccc cagagcggag
      241 tcccagcgcg gcaggcgcag gcacctctgt cagcctcctc gcagttgtag ttattgtgtg
      301 tggcgtggcc ctggtggcag tttttctctt tctcttttgg aagctgtgct ggatgccctg
      361 gaggaacaag gaggcctcca gtccctcttc tgctaatccc cccttggaag ccctccagag
      421 ccccagcttc agaggcaaca tggcggacaa gctgaaggac cccagcaccc tgggcttcct
      481 ggaggcggcc gtgaagatca gccacacgtc cccagatatc ccagctgagg tgcagatgtc
      541 ggtcaaggag cacatcatgc gtcacacccg gctgcagcgg caaactacag agccagcgtc
      601 atccaccagg cacacgtcct tcaagcgcca cctgccaagg cagatgcatg tctccagtgt
      661 agactatggc aatgagcttc caccagcagc agagcagccc accagcattg gccgcatcaa
      721 gcctgagctc tacaagcaga agtcggtgga tggggaggat gccaagtctg aggccaccaa
      781 gagctgcggg aagatcaact tcagcctacg ctacgattac gagaccgaga ccctgattgt
      841 gcgtatcctg aaggcttttg acctccctgc caaggacttt tgtggaagct ctgaccctta
      901 tgtcaagatc tacctcctgc ctgaccgcaa atgcaagctg cagacccggg tgcaccgcaa
      961 gaccctgaac cccacctttg atgagaactt ccacttccct gtgccctatg aggagctggc
     1021 tgaccgcaag ctgcatctca gtgtcttcga ctttgaccgc ttctcccgcc atgacatgat
     1081 tggcgaggtc atcctggaca acctctttga ggcctctgac ctgtctcggg aaacctccat
     1141 ctggaaggat atccaatatg ccacaagtga aagcgtggac ttgggagaga tcatgttctc
     1201 cctttgctac ctgcccactg caggcaggct caccctcaca gtgattaagt gtcggaacct
     1261 caaggcgatg gacatcacag gctattcaga tccctatgtg aaagtgtcct tgctctgtga
     1321 tgggcggagg ctgaagaaga agaaaacaac cataaagaaa aacactctca atcctgtcta
     1381 caatgaggcc atcatctttg acattccccc ggaaaacatg gatcaagtca gcctgctcat
     1441 ctcagtcatg gactatgatc gagtgggcca caatgagatc ataggagtct gtcgtgtggg
     1501 gatcactgct gaaggcctgg gcagggacca ctggaacgag atgctggcat acccccggaa
     1561 gcccatcgca cactggcact ccttggtgga ggtaaagaaa tccttcaaag agggaaaccc
     1621 tcggttgtga tttcattcac gtggatgctg caagcagaga gactgccacc tggagttagg
     1681 atggcagggc cgagctgcta gcttcgacag tgagagctcg tgcccatctc cgaaaccacc
     1741 tccaacacca tgagatgtgc agccaaataa cacaaatggg actcagcaat gttctctttg
     1801 cacttgttca accgtctaaa cagtgttgtg cagtcgcagt ggcggcagca gcggcagccg
     1861 tccgtcactc cagagtctta cctgctcctg tgtaggtcaa agctgagaca cttgtcatgt
     1921 ggtcagatct gtcttagtct tttgtgtctc ccaaggtgat gtttttgtgg tttttcactt
     1981 tttatgggtc tgctggtaag aaaagggaaa aaaaaaaaga gtaggaaaag acaaagggtg
     2041 gaaagcccag aagttggttc tagaaaatac aaggtacagt tttttggaaa gaggtggatt
     2101 gagtttctga aatgctgcgt ctccagcaag ctccacaacc ctggaaaagg aggaggcgtg
     2161 gtgggactgc ggctgcattt tcagtgccct gcaggaatgg ggtgaatcca tggaagagcc
     2221 tttgtgaggt gaattactag tctttgaagc tcttcgctgg caggacataa accacgctgg
     2281 gaccctcagt cccgtgttga aatcacaaga cctctgaggc gcttgtgagc cttcagctga
     2341 tgtgcagggt tcctcgctcc ccttcctcgc tggctttccc catgaattga aaacgtcttg
     2401 attcctcatg ggaacttagt cactttcttt aggaatgatt cagttcagcc gaaactaaac
     2461 acgccatatg ttttctgatg cgccacagtt aatgatcaca tttgtttgaa aacaggatct
     2521 ttgtcctcag aaataatctt gattgtaaag taagagagaa acatatgttc tggaatgatt
     2581 tctgcattat acatagcttt ataattccat gaagtatcaa gctgctgttt aaaatgccta
     2641 aacagattaa agaaaaacct agattaaatg ttcttttcca aatggggagt tttgaaatcc
     2701 aaatagcagt ttgagtccat ctttctatga agagtatgtt tttgattgaa accgagtcag
     2761 cgtaagccta tttcagcccc tttggctctt tgacaatatt catcttaaac tttagttcta
     2821 taaattacta agtacttcag tgttgtttgt ttcagtggtt gtgagggttt cttgtttcct
     2881 ttagatcttt accttaggcc aaactcagtt taggaaaaaa aaaattgttt gaactattct
     2941 gtgttgtaat agcacatttc tgttgagtta atagtggtct tcccaccaac ccctaaaacc
     3001 aggttgattt gctcaatctc agtttgtata accccagtaa gcgcatggag gtgagtttct
     3061 acttcgactt gtggcgacac agtgccagtt tcctgagctg tgtgtactac ttgcaagagg
     3121 caagtctgct gaagaacccc ttcttttaac agtggaaaat caagaacaga aaatctgttc
     3181 acacacctgt gtcttattct ttatatatgc tacatggtag aggagcagcg accaataaag
     3241 tatccctcat tttaaaccaa gttgtcagat ttctctgctg atagaacgct gcatagtatc
     3301 ttctagccct aaaaatgacc aggttgggca tgagttaaca ggatattgtg gcaaaaggaa
     3361 ttttctgctt agaaaagtaa atgtagataa acctaaactc caccctgtac tgagccttag
     3421 gctagggact catgtgtaaa gatgactttt ctccccagat atcttgtcat tgacaggcct
     3481 tcctagtctg gtagtcctac atttgggtgt tctcctgaga gtgagaaaaa acccaaggtc
     3541 atgacaagat tcctggcagg tgacagactt cattatgatt ctgactctag actgacccca
     3601 tcaagatagt cgtttccgtc agtgaacaga tgctgaaggc cttgccatta caaaggagac
     3661 aactgagttc cctgggtcat aaggagtcca gaaattagtg tgagaaggtc cttctggaag
     3721 tgaactcaaa attcatgtcc agctgtcatc gttaaaccct taggcaggtg agtataaccc
     3781 attctaacct cttggagaag ggagtgtgat caatgtgaat cacaatagta ttgctcatct
     3841 gagacattcc tcttatatcc aagcagctat ctcccatgag tgaacatccc agtggtttca
     3901 gaaaatcatg tcctgaacag attctagcca gccccacacc accctggcca actgcaaccg
     3961 ctgctgctct agcagtctgg gtcaattcct acaggcttgg gagcccaccc cagggaggct
     4021 tttatctcct gcagcctcat ccccagcacc ctcaaggtag actactcctc agcctgaatc
     4081 atgaatgaaa cctgaacatc tgccaacttc attatctagc ccagtatctc ttccctcaca
     4141 gagaagaaga aaatgaaata caaagttgat ccatttgttg gctttctctg gccggagaaa
     4201 cctctcgggt tgttgctgtg agctttgatg aagttgtgat aaccagggcc atttgcacat
     4261 aggttttttt aaaaaacatg aaaagttccc ttctccttta tttagcagtg tttccgggct
     4321 gaaagacgcc ctcctccccc tctgcgctta cccaggacgt taattaattg cactgtcatt
     4381 taaaatatta tgttgttaat tactcgtttg tgtcttccca cccgtgtcac agcctggagt
     4441 ttttattcaa ttaaatctct gtctcttgcc ca
//
