LOCUS       NM_003179               2421 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens synaptophysin (SYP), mRNA.
ACCESSION   NM_003179
VERSION     NM_003179.3
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 2421)
  AUTHORS   Kim,H.J., Kim,S.Y., Kim,G.E. and Jin,H.J.
  TITLE     Association between genetic polymorphisms of synaptophysin (SYP)
            gene and attention deficit hyperactivity disorder in Korean
            subjects
  JOURNAL   Genes Genomics 45 (9), 1097-1105 (2023)
   PUBMED   37133725
  REMARK    GeneRIF: Association between genetic polymorphisms of synaptophysin
            (SYP) gene and attention deficit hyperactivity disorder in Korean
            subjects.
REFERENCE   2  (bases 1 to 2421)
  AUTHORS   Im,S., Kim,J.A., Park,G. and Cho,U.
  TITLE     Aberrant synaptophysin expression in classic Hodgkin lymphoma
  JOURNAL   Diagn Pathol 17 (1), 90 (2022)
   PUBMED   36401284
  REMARK    GeneRIF: Aberrant synaptophysin expression in classic Hodgkin
            lymphoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2421)
  AUTHORS   Prota,J., Rizzi,L., Bonadia,L., de Souza,L.C., Caramelli,P.,
            Secolin,R., Lopes-Cendes,I. and Balthazar,M.L.F.
  TITLE     Slowly progressive behavioral frontotemporal dementia syndrome in a
            family co-segregating the C9orf72 expansion and a Synaptophysin
            mutation
  JOURNAL   Alzheimers Dement 18 (3), 523-528 (2022)
   PUBMED   34310040
  REMARK    GeneRIF: Slowly progressive behavioral frontotemporal dementia
            syndrome in a family co-segregating the C9orf72 expansion and a
            Synaptophysin mutation.
REFERENCE   4  (bases 1 to 2421)
  AUTHORS   Murakami,K., Kumata,H., Miyagi,S., Kamei,T. and Sasano,H.
  TITLE     The prognostic significance of neuroendocrine markers and
            somatostatin receptor 2 in hepatocellular carcinoma
  JOURNAL   Pathol Int 71 (10), 682-691 (2021)
   PUBMED   34320691
  REMARK    GeneRIF: The prognostic significance of neuroendocrine markers and
            somatostatin receptor 2 in hepatocellular carcinoma.
REFERENCE   5  (bases 1 to 2421)
  AUTHORS   Tarpey,P.S., Smith,R., Pleasance,E., Whibley,A., Edkins,S.,
            Hardy,C., O'Meara,S., Latimer,C., Dicks,E., Menzies,A.,
            Stephens,P., Blow,M., Greenman,C., Xue,Y., Tyler-Smith,C.,
            Thompson,D., Gray,K., Andrews,J., Barthorpe,S., Buck,G., Cole,J.,
            Dunmore,R., Jones,D., Maddison,M., Mironenko,T., Turner,R.,
            Turrell,K., Varian,J., West,S., Widaa,S., Wray,P., Teague,J.,
            Butler,A., Jenkinson,A., Jia,M., Richardson,D., Shepherd,R.,
            Wooster,R., Tejada,M.I., Martinez,F., Carvill,G., Goliath,R., de
            Brouwer,A.P., van Bokhoven,H., Van Esch,H., Chelly,J., Raynaud,M.,
            Ropers,H.H., Abidi,F.E., Srivastava,A.K., Cox,J., Luo,Y.,
            Mallya,U., Moon,J., Parnau,J., Mohammed,S., Tolmie,J.L.,
            Shoubridge,C., Corbett,M., Gardner,A., Haan,E., Rujirabanjerd,S.,
            Shaw,M., Vandeleur,L., Fullston,T., Easton,D.F., Boyle,J.,
            Partington,M., Hackett,A., Field,M., Skinner,C., Stevenson,R.E.,
            Bobrow,M., Turner,G., Schwartz,C.E., Gecz,J., Raymond,F.L.,
            Futreal,P.A. and Stratton,M.R.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
REFERENCE   6  (bases 1 to 2421)
  AUTHORS   de Koning,J.P., Schelen,A.M., Dong,F., van Buitenen,C.,
            Burgering,B.M., Bos,J.L., Lowenberg,B. and Touw,I.P.
  TITLE     Specific involvement of tyrosine 764 of human granulocyte
            colony-stimulating factor receptor in signal transduction mediated
            by p145/Shc/GRB2 or p90/GRB2 complexes
  JOURNAL   Blood 87 (1), 132-140 (1996)
   PUBMED   8547634
REFERENCE   7  (bases 1 to 2421)
  AUTHORS   Kalina,M., Lukinius,A., Grimelius,L., Hoog,A. and Falkmer,S.
  TITLE     Ultrastructural localization of synaptophysin to the secretory
            granules of normal glucagon and insulin cells in human islets of
            Langerhans
  JOURNAL   Ultrastruct Pathol 15 (3), 215-219 (1991)
   PUBMED   1908157
REFERENCE   8  (bases 1 to 2421)
  AUTHORS   Ozcelik,T., Lafreniere,R.G., Archer,B.T. 3rd, Johnston,P.A.,
            Willard,H.F., Francke,U. and Sudhof,T.C.
  TITLE     Synaptophysin: structure of the human gene and assignment to the X
            chromosome in man and mouse
  JOURNAL   Am J Hum Genet 47 (3), 551-561 (1990)
   PUBMED   1975480
REFERENCE   9  (bases 1 to 2421)
  AUTHORS   Goto,S., Hirano,A. and Pearson,J.
  TITLE     Calcineurin and synaptophysin in the human spinal cord of normal
            individuals and patients with familial dysautonomia
  JOURNAL   Acta Neuropathol 79 (6), 647-652 (1990)
   PUBMED   2163183
  REMARK    Erratum:[Acta Neuropathol (Berl) 1990;80(6):684]
REFERENCE   10 (bases 1 to 2421)
  AUTHORS   Sudhof,T.C., Lottspeich,F., Greengard,P., Mehl,E. and Jahn,R.
  TITLE     The cDNA and derived amino acid sequences for rat and human
            synaptophysin
  JOURNAL   Nucleic Acids Res 15 (22), 9607 (1987)
   PUBMED   3120152
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC064550.1 and X06389.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_003179.2.
            
            Summary: This gene encodes an integral membrane protein of small
            synaptic vesicles in brain and endocrine cells. The protein also
            binds cholesterol and is thought to direct targeting of
            vesicle-associated membrane protein 2 (synaptobrevin) to
            intracellular compartments. Mutations in this gene are associated
            with an X-linked form of cognitive disability. [provided by RefSeq,
            Jul 2017].
            
            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 :: BC064550.1, SRR14038195.730862.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263233.9/ ENSP00000263233.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-593               BC064550.1         10-602
            594-780             X06389.1           536-722
            781-2421            BC064550.1         790-2430
FEATURES             Location/Qualifiers
     source          1..2421
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..2421
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /note="synaptophysin"
                     /db_xref="GeneID:6855"
                     /db_xref="HGNC:HGNC:11506"
                     /db_xref="MIM:313475"
     exon            1..43
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /inference="alignment:Splign:2.1.0"
     CDS             8..949
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /note="major synaptic vesicle protein P38"
                     /codon_start=1
                     /product="synaptophysin"
                     /protein_id="NP_003170.1"
                     /db_xref="CCDS:CCDS14321.1"
                     /db_xref="GeneID:6855"
                     /db_xref="HGNC:HGNC:11506"
                     /db_xref="MIM:313475"
                     /translation="MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATC
                     GSYSGELQLSVDCANKTESDLSIEVEFEYPFRLHQVYFDAPTCRGGTTKVFLVGDYSS
                     SAEFFVTVAVFAFLYSMGALATYIFLQNKYRENNKGPMLDFLATAVFAFMWLVSSSAW
                     AKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVGN
                     LWFVFKETGWAAPFLRAPPGAPEKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQP
                     DYGQPAGSGGSGYGPQGDYGQQGYGPQGAPTSFSNQM"
     exon            44..109
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /inference="alignment:Splign:2.1.0"
     exon            110..234
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /inference="alignment:Splign:2.1.0"
     exon            235..430
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /inference="alignment:Splign:2.1.0"
     exon            431..622
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /inference="alignment:Splign:2.1.0"
     exon            623..953
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /inference="alignment:Splign:2.1.0"
     exon            954..2421
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2401..2406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /note="hexamer: AATAAA"
     polyA_site      2421
                     /gene="SYP"
                     /gene_synonym="MRX96; MRXSYP; XLID96"
                     /note="major polyA site"
ORIGIN      
        1 attgctgatg ctgctgctgg cggacatgga cgtggtgaat cagctggtgg ctgggggtca
       61 gttccgggtg gtcaaggagc ccctcggctt tgtgaaggtg ctgcaatggg tcttcgccat
      121 cttcgccttt gccacatgcg gcagctacag tggggagctc cagctgagcg tggattgtgc
      181 caacaagacc gagagtgacc tcagcatcga ggtcgagttc gagtacccct tcaggctgca
      241 ccaagtgtac tttgatgcac ccacctgccg agggggcacc accaaggtct tcttagttgg
      301 ggactactcc tcgtcagccg aattctttgt caccgtggcc gtgtttgcct tcctctactc
      361 catgggggct ctggccacct acatcttcct gcagaacaag taccgagaga ataacaaagg
      421 gcccatgctg gactttctgg ccacggctgt gttcgccttc atgtggctag ttagctcatc
      481 ggcatgggcc aaggggctgt cagatgtgaa gatggccaca gacccagaga acattatcaa
      541 ggagatgcct gtctgccgcc agacagggaa cacatgcaag gagctgagag accctgtgac
      601 ctcgggactc aacacctcgg tggtgttcgg cttcctgaac ctggtgctct gggtcggcaa
      661 cctgtggttc gtgtttaagg agacaggctg ggccgccccg ttcctgcgcg cgcctcccgg
      721 cgcccccgag aaacaaccgg cacccgggga cgcctacggc gatgcaggct acgggcaggg
      781 ccccggcggg tacgggcccc aggattccta cgggcctcag ggcggctacc agcctgacta
      841 tggtcaacca gccggcagcg gtggcagtgg ctacgggcct cagggcgact atgggcagca
      901 aggctacggc ccgcagggtg cacccacctc cttctccaat cagatgtagt ctggtcagtg
      961 aagcccagga ggacctgggg ggggcaagag ctcaggagaa ggcctgcccc ccttcccacc
     1021 cctataccct aggtctccac ccctcaagcc aggagaccct gtctttgctg tttatatata
     1081 tatatattat atataaatat ctatttatct gtctgagccc tgccctcact ccactcccct
     1141 catccactag gtgcccagtc ttgagtgggc cccctctctt accccgtccc tttccctgca
     1201 tcccttggcc cctctctgtt taccctccct gtcccctgag gttaagggga tctaaaagga
     1261 ggacagggag ggaacagacc tcggctgtgt ggggagggtg ggcgtgactt cagactctct
     1321 cctctctctc cctccactcc tcccaactct ggccttggtt cctccagcaa tgcctgcctg
     1381 aacaaaggcc gttagggaaa tccaactcca gggttaaaga aaggcagaga ttgggggggc
     1441 ttggggtaga gaggacagtt taggacccaa ggtggtcttg gagaggaggt gtggagtgga
     1501 ggggtcagca ggggggttgg gttccagaca gagtggatct ggagtctgaa ggagaggagt
     1561 gcgctagagc attctggggt ggggcttgga agggcgctga gggcagggtt ctagaagggg
     1621 cgaggcttta agcgaggcag aatggtgggc tccagagtag gtgggtcttg gattggtacc
     1681 agagcctatg gaaagggtgt ggcttggaac atttgggaga ctgagcttga ttctaaaggg
     1741 gacagatctt gagcaaggca agaagtggga ttcaggaatg ggccaagcca gggttccaga
     1801 cagggtgggg cttagaatgg ggcttccatg gtggtttcag aaagggcagc ccctccccat
     1861 ggtgcagtga agaaaatgtt ttacaatggc tgggtttggg cagtggagag gggacttgga
     1921 taggagcttc cagatgggtt ttgttagggg tgggggagaa tggctctggc tacgacttgg
     1981 gacggaagtg gcctgagaag agtcgagtga tatggcttgt agggtgaggc gtgggatcca
     2041 gagagaagca ccccaccaca cacacccttc cccactcccg tgatgaaaca gctaggttaa
     2101 taggaggaca gaaccaacgg gtctgtggga ctggcccacc cctcttcccc cttcccctgc
     2161 gccctccctc cctccacacc tccacccgtc ctggggtggt tggaggcctg gtctggagcc
     2221 cctatcctgc accctctgct atgtctgtga tgtcagtagt gcctgtgatc gtgtgttgcc
     2281 attttgtctg gctgtggccc ctccttctcc cctccagacc cctacccttt cccaaaccct
     2341 tcggtattgt tcaaagaacc cccctcccca aggaagaaca aatatgattc tcctctccca
     2401 aataaactcc ttaaccacct a
//
