LOCUS       NM_205848               4352 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens synaptotagmin 6 (SYT6), transcript variant 2, mRNA.
ACCESSION   NM_205848 XM_086135 XR_246235
VERSION     NM_205848.4
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 4352)
  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 4352)
  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 4352)
  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 4352)
  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 4352)
  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 4352)
  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 4352)
  AUTHORS   Craxton,M.
  TITLE     Genomic analysis of synaptotagmin genes
  JOURNAL   Genomics 77 (1-2), 43-49 (2001)
   PUBMED   11543631
REFERENCE   8  (bases 1 to 4352)
  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 4352)
  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 4352)
  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 AK056448.1, BC044948.1,
            AL162594.13, AK096744.1, BX431128.2 and N50928.1.
            
            On Aug 14, 2020 this sequence version replaced NM_205848.3.
            
            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: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            CCDS Note: This CCDS ID represents the protein described in PMIDs:
            11437455 and 16111671. This variant is supported by AK056448.1. It
            should be noted this transcript is predicted to undergo
            nonsense-mediated mRNA decay (NMD). However, the protein is
            represented because it was detected endogenously in PMID: 11437455.
            It is likely that the majority of transcripts representing this
            variant will undergo NMD, while some low level of NMD escape may
            allow for the expression of this protein.
            
            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 :: AK056448.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: PMID: 11437455, 16111671
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1401              AK056448.1         1-1401
            1402-1780           BC044948.1         1420-1798
            1781-1898           AL162594.13        26913-27030         c
            1899-2355           AK056448.1         1900-2356
            2356-2955           AK096744.1         1062-1661
            2956-3608           BX431128.2         48-700
            3609-4053           AL162594.13        24758-25202         c
            4054-4352           N50928.1           6-304               c
FEATURES             Location/Qualifiers
     source          1..4352
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..4352
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="synaptotagmin 6"
                     /db_xref="GeneID:148281"
                     /db_xref="HGNC:HGNC:18638"
                     /db_xref="MIM:607718"
     exon            1..223
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            224..489
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..1510
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="isoform b is encoded by transcript variant 2;
                     synaptotagmin VI"
                     /codon_start=1
                     /product="synaptotagmin-6 isoform b"
                     /protein_id="NP_995320.1"
                     /db_xref="CCDS:CCDS871.1"
                     /db_xref="GeneID:148281"
                     /db_xref="HGNC:HGNC:18638"
                     /db_xref="MIM:607718"
                     /translation="MPWRNKEASSPSSANPPLEALQSPSFRGNMADKLKDPSTLGFLE
                     AAVKISHTSPDIPAEVQMSVKEHIMRHTRLQRQTTEPASSTRHTSFKRHLPRQMHVSS
                     VDYGNELPPAAEQPTSIGRIKPELYKQKSVDGEDAKSEATKSCGKINFSLRYDYETET
                     LIVRILKAFDLPAKDFCGSSDPYVKIYLLPDRKCKLQTRVHRKTLNPTFDENFHFPVP
                     YEELADRKLHLSVFDFDRFSRHDMIGEVILDNLFEASDLSRETSIWKDIQYATSESVD
                     LGEIMFSLCYLPTAGRLTLTVIKCRNLKAMDITGYSDPYVKVSLLCDGRRLKKKKTTI
                     KKNTLNPVYNEAIIFDIPPENMDQVSLLISVMDYDRVGHNEIIGVCRVGITAEGLGRD
                     HWNEMLAYPRKPIAHWHSLVEVKKSFKEGNPRL"
     exon            490..1048
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1169
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1341
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1492
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1561
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..4352
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4330..4335
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="hexamer: ATTAAA"
     polyA_site      4352
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /note="major polyA site"
ORIGIN      
        1 aaggaccagg acgccggggt tccaggagac tctgcaggct ccatccctcc ttattccccc
       61 accccgaccc cagtagcgct gggcctagga gcactcggga gttgctcagt ggctctgcac
      121 cgctggcgcg ggaaggggag aaaggggctg ccagaggcgg gaatttggtc cccacgcgct
      181 gctccaggga cgagaagcca gggaccggcg gttctgggag cagctgtgct ggatgccctg
      241 gaggaacaag gaggcctcca gtccctcttc tgctaatccc cccttggaag ccctccagag
      301 ccccagcttc agaggcaaca tggcggacaa gctgaaggac cccagcaccc tgggcttcct
      361 ggaggcggcc gtgaagatca gccacacgtc cccagatatc ccagctgagg tgcagatgtc
      421 ggtcaaggag cacatcatgc gtcacacccg gctgcagcgg caaactacag agccagcgtc
      481 atccaccagg cacacgtcct tcaagcgcca cctgccaagg cagatgcatg tctccagtgt
      541 agactatggc aatgagcttc caccagcagc agagcagccc accagcattg gccgcatcaa
      601 gcctgagctc tacaagcaga agtcggtgga tggggaggat gccaagtctg aggccaccaa
      661 gagctgcggg aagatcaact tcagcctacg ctacgattac gagaccgaga ccctgattgt
      721 gcgtatcctg aaggcttttg acctccctgc caaggacttt tgtggaagct ctgaccctta
      781 tgtcaagatc tacctcctgc ctgaccgcaa atgcaagctg cagacccggg tgcaccgcaa
      841 gaccctgaac cccacctttg atgagaactt ccacttccct gtgccctatg aggagctggc
      901 tgaccgcaag ctgcatctca gtgtcttcga ctttgaccgc ttctcccgcc atgacatgat
      961 tggcgaggtc atcctggaca acctctttga ggcctctgac ctgtctcggg aaacctccat
     1021 ctggaaggat atccaatatg ccacaagtga aagcgtggac ttgggagaga tcatgttctc
     1081 cctttgctac ctgcccactg caggcaggct caccctcaca gtgattaagt gtcggaacct
     1141 caaggcgatg gacatcacag gctattcaga tccctatgtg aaagtgtcct tgctctgtga
     1201 tgggcggagg ctgaagaaga agaaaacaac cataaagaaa aacactctca atcctgtcta
     1261 caatgaggcc atcatctttg acattccccc ggaaaacatg gatcaagtca gcctgctcat
     1321 ctcagtcatg gactatgatc gagtgggcca caatgagatc ataggagtct gtcgtgtggg
     1381 gatcactgct gaaggcctgg gcagggacca ctggaacgag atgctggcat acccccggaa
     1441 gcccatcgca cactggcact ccttggtgga ggtaaagaaa tccttcaaag agggaaaccc
     1501 tcggttgtga tttcattcac gtggatgctg caagcagaga gactgccacc tggagttagg
     1561 atggcagggc cgagctgcta gcttcgacag tgagagctcg tgcccatctc cgaaaccacc
     1621 tccaacacca tgagatgtgc agccaaataa cacaaatggg actcagcaat gttctctttg
     1681 cacttgttca accgtctaaa cagtgttgtg cagtcgcagt ggcggcagca gcggcagccg
     1741 tccgtcactc cagagtctta cctgctcctg tgtaggtcaa agctgagaca cttgtcatgt
     1801 ggtcagatct gtcttagtct tttgtgtctc ccaaggtgat gtttttgtgg tttttcactt
     1861 tttatgggtc tgctggtaag aaaagggaaa aaaaaaaaga gtaggaaaag acaaagggtg
     1921 gaaagcccag aagttggttc tagaaaatac aaggtacagt tttttggaaa gaggtggatt
     1981 gagtttctga aatgctgcgt ctccagcaag ctccacaacc ctggaaaagg aggaggcgtg
     2041 gtgggactgc ggctgcattt tcagtgccct gcaggaatgg ggtgaatcca tggaagagcc
     2101 tttgtgaggt gaattactag tctttgaagc tcttcgctgg caggacataa accacgctgg
     2161 gaccctcagt cccgtgttga aatcacaaga cctctgaggc gcttgtgagc cttcagctga
     2221 tgtgcagggt tcctcgctcc ccttcctcgc tggctttccc catgaattga aaacgtcttg
     2281 attcctcatg ggaacttagt cactttcttt aggaatgatt cagttcagcc gaaactaaac
     2341 acgccatatg ttttctgatg cgccacagtt aatgatcaca tttgtttgaa aacaggatct
     2401 ttgtcctcag aaataatctt gattgtaaag taagagagaa acatatgttc tggaatgatt
     2461 tctgcattat acatagcttt ataattccat gaagtatcaa gctgctgttt aaaatgccta
     2521 aacagattaa agaaaaacct agattaaatg ttcttttcca aatggggagt tttgaaatcc
     2581 aaatagcagt ttgagtccat ctttctatga agagtatgtt tttgattgaa accgagtcag
     2641 cgtaagccta tttcagcccc tttggctctt tgacaatatt catcttaaac tttagttcta
     2701 taaattacta agtacttcag tgttgtttgt ttcagtggtt gtgagggttt cttgtttcct
     2761 ttagatcttt accttaggcc aaactcagtt taggaaaaaa aaaattgttt gaactattct
     2821 gtgttgtaat agcacatttc tgttgagtta atagtggtct tcccaccaac ccctaaaacc
     2881 aggttgattt gctcaatctc agtttgtata accccagtaa gcgcatggag gtgagtttct
     2941 acttcgactt gtggcgacac agtgccagtt tcctgagctg tgtgtactac ttgcaagagg
     3001 caagtctgct gaagaacccc ttcttttaac agtggaaaat caagaacaga aaatctgttc
     3061 acacacctgt gtcttattct ttatatatgc tacatggtag aggagcagcg accaataaag
     3121 tatccctcat tttaaaccaa gttgtcagat ttctctgctg atagaacgct gcatagtatc
     3181 ttctagccct aaaaatgacc aggttgggca tgagttaaca ggatattgtg gcaaaaggaa
     3241 ttttctgctt agaaaagtaa atgtagataa acctaaactc caccctgtac tgagccttag
     3301 gctagggact catgtgtaaa gatgactttt ctccccagat atcttgtcat tgacaggcct
     3361 tcctagtctg gtagtcctac atttgggtgt tctcctgaga gtgagaaaaa acccaaggtc
     3421 atgacaagat tcctggcagg tgacagactt cattatgatt ctgactctag actgacccca
     3481 tcaagatagt cgtttccgtc agtgaacaga tgctgaaggc cttgccatta caaaggagac
     3541 aactgagttc cctgggtcat aaggagtcca gaaattagtg tgagaaggtc cttctggaag
     3601 tgaactcaaa attcatgtcc agctgtcatc gttaaaccct taggcaggtg agtataaccc
     3661 attctaacct cttggagaag ggagtgtgat caatgtgaat cacaatagta ttgctcatct
     3721 gagacattcc tcttatatcc aagcagctat ctcccatgag tgaacatccc agtggtttca
     3781 gaaaatcatg tcctgaacag attctagcca gccccacacc accctggcca actgcaaccg
     3841 ctgctgctct agcagtctgg gtcaattcct acaggcttgg gagcccaccc cagggaggct
     3901 tttatctcct gcagcctcat ccccagcacc ctcaaggtag actactcctc agcctgaatc
     3961 atgaatgaaa cctgaacatc tgccaacttc attatctagc ccagtatctc ttccctcaca
     4021 gagaagaaga aaatgaaata caaagttgat ccatttgttg gctttctctg gccggagaaa
     4081 cctctcgggt tgttgctgtg agctttgatg aagttgtgat aaccagggcc atttgcacat
     4141 aggttttttt aaaaaacatg aaaagttccc ttctccttta tttagcagtg tttccgggct
     4201 gaaagacgcc ctcctccccc tctgcgctta cccaggacgt taattaattg cactgtcatt
     4261 taaaatatta tgttgttaat tactcgtttg tgtcttccca cccgtgtcac agcctggagt
     4321 ttttattcaa ttaaatctct gtctcttgcc ca
//
