LOCUS       NM_001394072            1370 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens synaptotagmin 8 (SYT8), transcript variant 5, mRNA.
ACCESSION   NM_001394072
VERSION     NM_001394072.1
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 1370)
  AUTHORS   Kanda,M., Shimizu,D., Tanaka,H., Tanaka,C., Kobayashi,D.,
            Hayashi,M., Iwata,N., Niwa,Y., Yamada,S., Fujii,T., Sugimoto,H.,
            Murotani,K., Fujiwara,M. and Kodera,Y.
  TITLE     Significance of SYT8 For the Detection, Prediction, and Treatment
            of Peritoneal Metastasis From Gastric Cancer
  JOURNAL   Ann Surg 267 (3), 495-503 (2018)
   PUBMED   28026832
  REMARK    GeneRIF: SYT8 represents a promising target for the detection,
            prediction, and treatment of peritoneal metastasis of GC.
REFERENCE   2  (bases 1 to 1370)
  AUTHORS   Moghadam,P.K. and Jackson,M.B.
  TITLE     The functional significance of synaptotagmin diversity in
            neuroendocrine secretion
  JOURNAL   Front Endocrinol (Lausanne) 4, 124 (2013)
   PUBMED   24065953
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1370)
  AUTHORS   Ostensson,M., Monten,C., Bacelis,J., Gudjonsdottir,A.H.,
            Adamovic,S., Ek,J., Ascher,H., Pollak,E., Arnell,H., Browaldh,L.,
            Agardh,D., Wahlstrom,J., Nilsson,S. and Torinsson-Naluai,A.
  TITLE     A possible mechanism behind autoimmune disorders discovered by
            genome-wide linkage and association analysis in celiac disease
  JOURNAL   PLoS One 8 (8), e70174 (2013)
   PUBMED   23936387
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1370)
  AUTHORS   Xu,Z., Lefevre,G.M. and Felsenfeld,G.
  TITLE     Chromatin structure, epigenetic mechanisms and long-range
            interactions in the human insulin locus
  JOURNAL   Diabetes Obes Metab 14 Suppl 3 (Suppl 3), 1-11 (2012)
   PUBMED   22928559
  REMARK    Review article
REFERENCE   5  (bases 1 to 1370)
  AUTHORS   Xu,Z., Wei,G., Chepelev,I., Zhao,K. and Felsenfeld,G.
  TITLE     Mapping of INS promoter interactions reveals its role in long-range
            regulation of SYT8 transcription
  JOURNAL   Nat Struct Mol Biol 18 (3), 372-378 (2011)
   PUBMED   21336277
  REMARK    GeneRIF: Inactivation of the insulin promoter by promoter-targeting
            siRNA reduces SYT8 gene expression.
REFERENCE   6  (bases 1 to 1370)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 1370)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1370)
  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 AC051649.21.
            This sequence is a reference standard in the RefSeqGene project.
            
            SUMMARY: This gene encodes a member of the synaptotagmin protein
            family. Synaptotagmins are membrane proteins that are important in
            neurotransmission and hormone secretion, both of which involve
            regulated exocytosis. Expression of the encoded protein in human
            pancreatic islets has been connected to activity of the promoter
            for the insulin gene, on the same chromosome several hundred
            kilobases away (PMID: 21336277 and 22928559). This association
            would link response to gluclose to insulin secretion. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Mar 2014].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.4812.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341958.4/ ENSP00000343691.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-210               AC051649.21        162818-163027       c
            211-374             AC051649.21        162558-162721       c
            375-473             AC051649.21        162033-162131       c
            474-632             AC051649.21        161733-161891       c
            633-800             AC051649.21        161425-161592       c
            801-906             AC051649.21        161156-161261       c
            907-1040            AC051649.21        160927-161060       c
            1041-1370           AC051649.21        160496-160825       c
FEATURES             Location/Qualifiers
     source          1..1370
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1370
                     /gene="SYT8"
                     /note="synaptotagmin 8"
                     /db_xref="GeneID:90019"
                     /db_xref="HGNC:HGNC:19264"
                     /db_xref="MIM:607719"
     exon            1..210
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1280
                     /gene="SYT8"
                     /note="isoform 5 is encoded by transcript variant 5;
                     sytVIII; synaptotagmin VIII"
                     /codon_start=1
                     /product="synaptotagmin-8 isoform 5"
                     /protein_id="NP_001381001.1"
                     /db_xref="CCDS:CCDS91401.1"
                     /db_xref="GeneID:90019"
                     /db_xref="HGNC:HGNC:19264"
                     /db_xref="MIM:607719"
                     /translation="MGHPPVSPSAPAPAGTTAIPGLIPDLVAGTPWPRWALIAGALAA
                     GVLLVSCLLCAACCCCRRHRKKPRDKESVGLGSARGTTTTHLVQPDVDGLESSPGDAQ
                     QWGCLQLSLEFDFGSQEIRVGLRQAADLRPGGTVDPYARVSVSTQAGHRHETKVHRGT
                     LCPVFDETCCFHIPQAELPGATLQVQLFNFKRFSGHEPLGELRLPLGTVDLQHVLEHW
                     YLLGPPAATQPEQVGELCFSLRYVPSSGRLTVVVLEARGLRPGLAEPYVKVQLMLNQR
                     KWKKRKTATKKGTAAPYFNEAFTFLVPFSQVQNVDLVLAVWDRSLPLRTEPVGKVHLG
                     ARASGQPLQHWADMLAHARRPIAQRHPLRPAREVDRMLALQPRLRLRLPLPHS"
     exon            211..374
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     exon            375..473
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     exon            474..632
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     exon            633..800
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     exon            801..906
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1040
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1370
                     /gene="SYT8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1350..1355
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYT8"
                     /note="hexamer: AATAAA"
     polyA_site      1370
                     /gene="SYT8"
                     /note="major polyA site"
ORIGIN      
        1 agacccagca ctggctgctg ctagtcagat ggggtagcgg gcaggggccg gaggggccac
       61 cctcccagct gacccagcct cctgggccgc ttcttccaaa ccagcagggt agaaagatgg
      121 ggcacccacc agtctctccc agtgccccgg ccccagctgg caccacagct atacctgggc
      181 ttattccaga ccttgtcgcc gggaccccct ggccccgctg ggctctcatt gccggcgccc
      241 ttgccgcggg cgtcctcctc gtctcctgcc tcctctgtgc tgcctgctgc tgctgccgcc
      301 gccacaggaa gaagcccagg gacaaggagt ccgtgggtct gggcagtgcc cgcggcacca
      361 ccaccaccca cctggtgcaa cctgatgtgg atggcctgga gtccagcccg ggggatgctc
      421 agcaatgggg gtgcctgcag ctctccctgg agttcgactt tggaagccag gagatcaggg
      481 tgggcctgag gcaggcagcc gacctgaggc ctgggggcac cgtggacccc tatgcccggg
      541 tcagcgtctc cacccaggcc ggacacagac atgagacaaa agtgcaccga ggcacgctct
      601 gccccgtgtt tgacgagacc tgctgcttcc acatcccgca ggcggagctg ccaggggcca
      661 ccctgcaggt gcagcttttc aacttcaagc gcttctcggg gcatgagccc ctgggtgagc
      721 tccgtctgcc actgggcacc gtggatctgc agcatgttct ggagcactgg tacctgctgg
      781 gcccgccggc tgccactcag cccgagcagg tcggggagct gtgcttctct ctccggtacg
      841 tgcccagctc aggccggctg accgtggtgg tgctggaggc tcgaggcctg cgtccaggac
      901 ttgcagagcc ctacgtgaag gtccagctca tgctgaacca gaggaagtgg aagaagagaa
      961 agacagccac caaaaagggc acggcggccc cctacttcaa tgaggccttc accttcctgg
     1021 tgcccttcag ccaggtccag aatgtggacc tggtgctggc tgtctgggac cgcagcctgc
     1081 cgctccgaac tgagcccgta ggcaaggtgc acctgggtgc ccgggcctcg gggcagcccc
     1141 tgcagcactg ggcagacatg ctggcccacg cccggcggcc cattgcccag cggcaccccc
     1201 tgcggccagc cagggaggtg gaccgcatgc tggccctgca gccccgcctt cgcctgcgcc
     1261 tgcccttgcc ccactcctga atgcaccaca tgcctctgtc tccccgctga gcccaggcac
     1321 ttgcccaggc cgccctgcag gaccactgca ataaacgcct tctcctgcca
//
