LOCUS       NM_001130003            2527 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.
ACCESSION   NM_001130003
VERSION     NM_001130003.2
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 2527)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2527)
  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 2527)
  AUTHORS   Mitchell,L.E., Agopian,A.J., Bhalla,A., Glessner,J.T., Kim,C.E.,
            Swartz,M.D., Hakonarson,H. and Goldmuntz,E.
  TITLE     Genome-wide association study of maternal and inherited effects on
            left-sided cardiac malformations
  JOURNAL   Hum Mol Genet 24 (1), 265-273 (2015)
   PUBMED   25138779
  REMARK    GeneRIF: Results from genome-wide association studies identify
            synaptoporin gene as one of the three susceptibility loci candidate
            for congenital left-sided lesions.
REFERENCE   4  (bases 1 to 2527)
  AUTHORS   Dai,J., Ji,C., Gu,S., Wu,Q., Wang,L., Xu,J., Zeng,L., Ye,X.,
            Yin,G., Xie,Y. and Mao,Y.
  TITLE     Cloning and sequence analysis of the human cDNA encoding the
            synaptoporin (delta), a highly conservative synaptic vesicle
            protein
  JOURNAL   Mol Biol Rep 30 (3), 185-191 (2003)
   PUBMED   12974474
  REMARK    GeneRIF: cloning and characterization of the human cDNA that
            encodes the human homologue of synaptoporin
REFERENCE   5  (bases 1 to 2527)
  AUTHORS   Tran,M.H., Yamada,K., Nakajima,A., Mizuno,M., He,J., Kamei,H. and
            Nabeshima,T.
  TITLE     Tyrosine nitration of a synaptic protein synaptophysin contributes
            to amyloid beta-peptide-induced cholinergic dysfunction
  JOURNAL   Mol Psychiatry 8 (4), 407-412 (2003)
   PUBMED   12740598
  REMARK    GeneRIF: Tyrosine nitration of synaptophysin is related to Amyloid
            beta induced impairment of acetylcholine release.
REFERENCE   6  (bases 1 to 2527)
  AUTHORS   Singec,I., Knoth,R., Ditter,M., Hagemeyer,C.E., Rosenbrock,H.,
            Frotscher,M. and Volk,B.
  TITLE     Synaptic vesicle protein synaptoporin is differently expressed by
            subpopulations of mouse hippocampal neurons
  JOURNAL   J Comp Neurol 452 (2), 139-153 (2002)
   PUBMED   12271488
REFERENCE   7  (bases 1 to 2527)
  AUTHORS   Leube,R.E.
  TITLE     Expression of the synaptophysin gene family is not restricted to
            neuronal and neuroendocrine differentiation in rat and human
  JOURNAL   Differentiation 56 (3), 163-171 (1994)
   PUBMED   8034131
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099545.2, AC099056.2 and AC104436.2.
            
            On Nov 22, 2018 this sequence version replaced NM_001130003.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR3476690.778858.1,
                                           SRR1803611.151088.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000478300.6/ ENSP00000418994.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-244               AC099545.2         89371-89614
            245-310             AC099545.2         89740-89805
            311-435             AC099056.2         162089-162213
            436-634             AC104436.2         88324-88522         c
            635-826             AC104436.2         35749-35940         c
            827-2524            AC104436.2         28144-29841         c
            2525-2527           AC104436.2         28141-28143         c
FEATURES             Location/Qualifiers
     source          1..2527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.2"
     gene            1..2527
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /note="synaptoporin"
                     /db_xref="GeneID:132204"
                     /db_xref="HGNC:HGNC:16507"
     exon            1..244
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..1084
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="synaptoporin isoform 1"
                     /protein_id="NP_001123475.1"
                     /db_xref="CCDS:CCDS46859.1"
                     /db_xref="GeneID:132204"
                     /db_xref="HGNC:HGNC:16507"
                     /translation="MDPVSQLASAGTFRVLKEPLAFLRALELLFAIFAFATCGGYSGG
                     LRLSVDCVNKTESNLSIDIAFAYPFRLHQVTFEVPTCEGKERQKLALIGDSSSSAEFF
                     VTVAVFAFLYSLAATVVYIFFQNKYRENNRGPLIDFIVTVVFSFLWLVGSSAWAKGLS
                     DVKVATDPKEVLLLMSACKQPSNKCMAIHSPVMSSLNTSVVFGFLNFILWAGNIWFVF
                     KETGWHSSGQRYLSDPMEKHSSSYNQGGYNQDSYGSSSGYSQQASLGPTSDEFGQQPT
                     GPTSFTNQI"
     exon            245..310
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /inference="alignment:Splign:2.1.0"
     exon            311..435
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /inference="alignment:Splign:2.1.0"
     exon            436..634
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /inference="alignment:Splign:2.1.0"
     exon            635..826
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /inference="alignment:Splign:2.1.0"
     exon            827..2527
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2506..2511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /note="hexamer: AATAAA"
     polyA_site      2527
                     /gene="SYNPR"
                     /gene_synonym="SPO"
                     /note="major polyA site"
ORIGIN      
        1 acccctcgct gactcgcttc gcttccccga cgcgctgggt tcccggagcg cagagcccag
       61 cgttagcggg tgggctcccc gaggccccct gccctcgccg ggctgctcca gggtgtcgct
      121 cctctggctg ctcccgaagg ggcttctggc cctgaggacg gtggtgccaa gcgaacttca
      181 tttttaaaaa gaactggtgg atgagaagag cgagcgaggg cgagctatgg accctgtgag
      241 tcagctggcc tctgcgggca ccttccgggt gctgaaggag ccccttgcct tcctgcgagc
      301 cctggaattg ctttttgcaa tctttgcatt tgcaacatgc ggtggctatt ctggaggcct
      361 gcggctgagt gtggactgcg tcaacaagac agaaagtaac ctcagcatcg acatagcgtt
      421 tgcctaccca ttcaggttgc accaggtgac gtttgaggtg cccacctgcg agggaaagga
      481 acggcagaag ctggcattga ttggtgactc ctcgtcttca gcagagttct tcgtcactgt
      541 tgctgtcttc gccttcctct actctttggc tgccactgtc gtttacattt tcttccagaa
      601 caaataccgg gaaaacaacc ggggcccact cattgacttc attgtcactg tagtcttttc
      661 gttcttgtgg ttggtgggtt catcagcttg ggcaaaagga ctgtctgacg tcaaagttgc
      721 aacggatccc aaggaagtat tgctactaat gtcagcttgc aaacagccat ccaacaaatg
      781 catggctatc cacagccctg ttatgtcaag cttaaacact tctgtggtct ttggattctt
      841 gaactttatt ctctgggctg gaaacatatg gtttgttttc aaggagaccg gctggcattc
      901 ttcgggacag agatatcttt cagatccaat ggagaagcac tccagcagct ataatcaagg
      961 tggttacaac caagacagct atggatcaag cagtgggtac agtcagcagg cgagtttggg
     1021 gccaacctca gatgagtttg gccaacagcc tactggcccc acttccttta ccaatcagat
     1081 ttaacagagt agcatttgca ttcttctgca gtcgcctcac catcttccat ttcagtggca
     1141 gaagaatttt ttaagggttt caatcaatta ttaatgcaga gagtattgaa tgtaaatcag
     1201 agctctctag tcttcattaa ggcagcaagt cctgggttgt gaaaaatgat acttagagat
     1261 gaggcgacat gaggagatat attattcatc atagatggct aattggagag taccttgtta
     1321 tatatacaga tactttcatg gtcattttgt atgtatgtta aagtagtaga agtattttgt
     1381 agcttaaagt ctctagtatg taatatgcat aaagtaaatc aaatagcgtt gagttttctt
     1441 atgcattttg atgtgaaaga tgttataata atttctagaa gacaatttgg tgtatcacaa
     1501 catgcatgtc ttattttttt ttagttttaa gtcctatagg actatgagtc tctaagttat
     1561 ttgtttcaga aaattattct ttttttatgt gataaatcat atgatttaag tgcatgaata
     1621 agcattttcc cacacaatga acatttgaac tgtgtttatg aaaattttct ggtttgcacc
     1681 atgaatttgt caaatggata tttataggaa tatattcact actttgtata ctttgcaaat
     1741 ttgtctctct ggctttaccc aagttctgaa tgcattgtaa ttaaaattta agtttttctt
     1801 ttcccccatt agtaaacatt tagtgctaca tatgataact gcccaatatt tattctattt
     1861 acttagctaa atatttgcat tcttgtaacc ttctatggtg ttttgtggct cttatcttgt
     1921 ggaccataaa taacacggcc caataactct ttgtgtttat ggagtgttgt tttcttagaa
     1981 taatggagat gcagatatag ataccatagt caaggtaccg ccttgctgaa gtatttattt
     2041 ataaagaata ttctgtagaa cctctactac cagctatatt tttaaatcct gtttatttgt
     2101 aaagctaata tgctcctcaa tgtaattatt aaaaattctc aagtcacagc taaacttact
     2161 aattctgatt ttagtgtagc ccctaaatta aaaatggctt ccatatgcca ctctgtaccc
     2221 caaagagagt tctcatgaaa tattctccag aatgtattca ttatcaagaa aatgtcaatc
     2281 gtcacttcct cgttttaact cagctgaaac accaggaccc aatagagagg gcaagctgag
     2341 catctgtatt tccagataaa agttgttatt gatgtataaa ctcgttgcgt gattagtgat
     2401 gttggaagca ttttagcaca aaacagcctt gtgtcttaga tgatatctgt aaccagtttc
     2461 tgaatcccgt tggataaaac tgtattgtga tatctatttg atgttaataa agttattgca
     2521 tacagtg
//
