LOCUS       NM_006950               3210 bp    mRNA    linear   PRI 29-JUL-2024
DEFINITION  Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.
ACCESSION   NM_006950
VERSION     NM_006950.3
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 3210)
  AUTHORS   Leuschner,U.V., Kleinle,S., Holzinger,A. and Neef,J.
  TITLE     Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their
            Prompt Response to Valproate
  JOURNAL   Neuropediatrics 54 (3), 206-210 (2023)
   PUBMED   36693418
  REMARK    GeneRIF: Novel SYN1 Variant in Two Brothers with Focal Epilepsy and
            Their Prompt Response to Valproate.
REFERENCE   2  (bases 1 to 3210)
  AUTHORS   Bauer,C.S., Cohen,R.N., Sironi,F., Livesey,M.R., Gillingwater,T.H.,
            Highley,J.R., Fillingham,D.J., Coldicott,I., Smith,E.F.,
            Gibson,Y.B., Webster,C.P., Grierson,A.J., Bendotti,C. and De
            Vos,K.J.
  TITLE     An interaction between synapsin and C9orf72 regulates excitatory
            synapses and is impaired in ALS/FTD
  JOURNAL   Acta Neuropathol 144 (3), 437-464 (2022)
   PUBMED   35876881
  REMARK    GeneRIF: An interaction between synapsin and C9orf72 regulates
            excitatory synapses and is impaired in ALS/FTD.
REFERENCE   3  (bases 1 to 3210)
  AUTHORS   Xiong,J., Duan,H., Chen,S., Kessi,M., He,F., Deng,X., Zhang,C.,
            Yang,L., Peng,J. and Yin,F.
  TITLE     Familial SYN1 variants related neurodevelopmental disorders in
            Asian pediatric patients
  JOURNAL   BMC Med Genomics 14 (1), 182 (2021)
   PUBMED   34243774
  REMARK    GeneRIF: Familial SYN1 variants related neurodevelopmental
            disorders in Asian pediatric patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3210)
  AUTHORS   Hoffmann,C., Sansevrino,R., Morabito,G., Logan,C., Vabulas,R.M.,
            Ulusoy,A., Ganzella,M. and Milovanovic,D.
  TITLE     Synapsin Condensates Recruit alpha-Synuclein
  JOURNAL   J Mol Biol 433 (12), 166961 (2021)
   PUBMED   33774037
  REMARK    GeneRIF: Synapsin Condensates Recruit alpha-Synuclein.
REFERENCE   5  (bases 1 to 3210)
  AUTHORS   Park,D., Wu,Y., Lee,S.E., Kim,G., Jeong,S., Milovanovic,D., De
            Camilli,P. and Chang,S.
  TITLE     Cooperative function of synaptophysin and synapsin in the
            generation of synaptic vesicle-like clusters in non-neuronal cells
  JOURNAL   Nat Commun 12 (1), 263 (2021)
   PUBMED   33431828
  REMARK    GeneRIF: Cooperative function of synaptophysin and synapsin in the
            generation of synaptic vesicle-like clusters in non-neuronal cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3210)
  AUTHORS   Kirchgessner,C.U., Trofatter,J.A., Mahtani,M.M., Willard,H.F. and
            DeGennaro,L.J.
  TITLE     A highly polymorphic dinucleotide repeat on the proximal short arm
            of the human X chromosome: linkage mapping of the synapsin
            I/A-raf-1 genes
  JOURNAL   Am J Hum Genet 49 (1), 184-191 (1991)
   PUBMED   1905878
REFERENCE   7  (bases 1 to 3210)
  AUTHORS   Bennett,A.F., Hayes,N.V. and Baines,A.J.
  TITLE     Site specificity in the interactions of synapsin 1 with tubulin
  JOURNAL   Biochem J 276 (Pt 3) (Pt 3), 793-799 (1991)
   PUBMED   1905928
REFERENCE   8  (bases 1 to 3210)
  AUTHORS   Sauerwald,A., Hoesche,C., Oschwald,R. and Kilimann,M.W.
  TITLE     The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA-
            and CAAT-less, phylogenetically conserved sequence with cell
            type-specific promoter function
  JOURNAL   J Biol Chem 265 (25), 14932-14937 (1990)
   PUBMED   2118519
REFERENCE   9  (bases 1 to 3210)
  AUTHORS   Sudhof,T.C.
  TITLE     The structure of the human synapsin I gene and protein
  JOURNAL   J Biol Chem 265 (14), 7849-7852 (1990)
   PUBMED   2110562
REFERENCE   10 (bases 1 to 3210)
  AUTHORS   Sudhof,T.C., Czernik,A.J., Kao,H.T., Takei,K., Johnston,P.A.,
            Horiuchi,A., Kanazir,S.D., Wagner,M.A., Perin,M.S., De Camilli,P.
            et al.
  TITLE     Synapsins: mosaics of shared and individual domains in a family of
            synaptic vesicle phosphoproteins
  JOURNAL   Science 245 (4925), 1474-1480 (1989)
   PUBMED   2506642
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI929645.1, BC048799.1,
            BC036711.2 and Z84466.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 13, 2006 this sequence version replaced NM_006950.2.
            
            Summary: This gene is a member of the synapsin gene family.
            Synapsins encode neuronal phosphoproteins which associate with the
            cytoplasmic surface of synaptic vesicles. Family members are
            characterized by common protein domains, and they are implicated in
            synaptogenesis and the modulation of neurotransmitter release,
            suggesting a potential role in several neuropsychiatric diseases.
            This member of the synapsin family plays a role in regulation of
            axonogenesis and synaptogenesis. The protein encoded serves as a
            substrate for several different protein kinases and phosphorylation
            may function in the regulation of this protein in the nerve
            terminal. Mutations in this gene may be associated with X-linked
            disorders with primary neuronal degeneration such as Rett syndrome.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (Ia) represents the longer
            transcript, and encodes the longer isoform (Ia). This isoform (Ia)
            contains a distinct domain E, as compared to isoform Ib.
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295987.13/ ENSP00000295987.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AI929645.1         50-65
            17-1203             BC048799.1         1-1187
            1204-2111           BC036711.2         649-1556
            2112-2149           Z84466.2           30976-31013
            2150-3207           BC036711.2         1557-2614
            3208-3210           BC048799.1         3152-3154
FEATURES             Location/Qualifiers
     source          1..3210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3-p11.23"
     gene            1..3210
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /note="synapsin I"
                     /db_xref="GeneID:6853"
                     /db_xref="HGNC:HGNC:11494"
                     /db_xref="MIM:313440"
     exon            1..506
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..2247
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /note="isoform Ia is encoded by transcript variant Ia;
                     brain protein 4.1; synapsin-1; synapsin Ib"
                     /codon_start=1
                     /product="synapsin-1 isoform Ia"
                     /protein_id="NP_008881.2"
                     /db_xref="CCDS:CCDS14280.1"
                     /db_xref="GeneID:6853"
                     /db_xref="HGNC:HGNC:11494"
                     /db_xref="MIM:313440"
                     /translation="MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATP
                     GPGTATAERSSGVAPAASPAAPSPGSSGGGGFFSSLSNAVKQTTAAAAATFSEQVGGG
                     SGGAGRGGAASRVLLVIDEPHTDWAKYFKGKKIHGEIDIKVEQAEFSDLNLVAHANGG
                     FSVDMEVLRNGVKVVRSLKPDFVLIRQHAFSMARNGDYRSLVIGLQYAGIPSVNSLHS
                     VYNFCDKPWVFAQMVRLHKKLGTEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSG
                     MGKVKVDNQHDFQDIASVVALTKTYATAEPFIDAKYDVRVQKIGQNYKAYMRTSVSGN
                     WKTNTGSAMLEQIAMSDRYKLWVDTCSEIFGGLDICAVEALHGKDGRDHIIEVVGSSM
                     PLIGDHQDEDKQLIVELVVNKMAQALPRQRQRDASPGRGSHGQTPSPGALPLGRQTSQ
                     QPAGPPAQQRPPPQGGPPQPGPGPQRQGPPLQQRPPPQGQQHLSGLGPPAGSPLPQRL
                     PSPTSAPQQPASQAAPPTQGQGRQSRPVAGGPGAPPAARPPASPSPQRQAGPPQATRQ
                     TSVSGPAPPKASGAPPGGQQRQGPPQKPPGPAGPTRQASQAGPVPRTGPPTTQQPRPS
                     GPGPAGRPKPQLAQKPSQDVPPPATAAAGGPPHPQLNKSQSLTNAFNLPEPAPPRPSL
                     SQDEVKAETIRSLRKSFASLFSD"
     exon            507..564
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            565..656
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            657..813
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            814..903
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            904..966
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1109
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1184
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1287
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1434
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1522
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..2111
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     exon            2112..3210
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3188..3193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /note="hexamer: AATAAA"
     polyA_site      3210
                     /gene="SYN1"
                     /gene_synonym="EPILX; EPILX1; MRX50; SYN1a; SYN1b; SYNI"
                     /note="major polyA site"
ORIGIN      
        1 agtctgcggt gggcagcgga ggagtcgtgt cgtgcctgag agcgcagctg tgctcctggg
       61 caccgcgcag tccgcccccg cggctcctgg ccagaccacc cctaggaccc cctgccccaa
      121 gtcgcagcca tgaactacct gcggcgccgc ctgtcggaca gcaactttat ggccaatctg
      181 ccaaatgggt acatgacaga cctgcagcgt ccgcagccgc ccccaccgcc gcccggtgcc
      241 cacagccccg gagccacgcc cggtcccggg accgccactg ccgagaggtc ctccggggtc
      301 gccccagcgg cctctccggc cgcccctagc cccgggtcct cggggggcgg tggcttcttc
      361 tcgtcgctgt ccaacgcggt caagcagacc acggcggcgg cagctgccac cttcagcgag
      421 caggtgggcg gcggctctgg gggcgcaggc cgcgggggag ccgcctccag ggtgctgctg
      481 gtcatcgacg agccgcacac cgactgggca aaatacttca aagggaaaaa gatccatgga
      541 gaaattgaca ttaaagtaga acaggccgaa ttctctgatc tcaaccttgt ggcccatgcc
      601 aatggtggat tctctgtgga tatggaagtt cttcggaatg gggtgaaggt cgtgcggtct
      661 ctgaagccgg attttgtgct gatccgccag cacgccttca gcatggcacg caacggagac
      721 taccgcagtt tggtcattgg gctgcagtat gctggaatcc ccagtgttaa ctccttgcat
      781 tctgtctaca acttctgtga caagccctgg gtgtttgccc agatggttcg actgcataag
      841 aaactgggga cagaagaatt ccctctaatt gatcagacct tctaccccaa tcacaaagaa
      901 atgctcagca gtacaacgta ccccgtggtt gtgaagatgg ggcacgcaca ctctgggatg
      961 ggcaaggtca aggttgacaa ccagcatgac ttccaggaca tcgcaagtgt cgtggcactg
     1021 accaagacgt atgccactgc cgagcccttc atcgatgcca aatatgacgt gcgtgtccag
     1081 aagattgggc agaactacaa ggcctacatg aggacgtcag tgtcagggaa ctggaagacc
     1141 aatactggct ctgcgatgct ggagcaaatt gccatgtctg acagatacaa gctgtgggtg
     1201 gacacgtgct cagagatttt tgggggactg gacatctgcg cagtggaagc gctacatggc
     1261 aaggacggaa gggatcacat cattgaggtg gtgggttcct ccatgccgct cattggtgac
     1321 caccaggatg aagacaaaca gctcatcgta gagctcgtgg tcaacaagat ggctcaggcc
     1381 ctgccccggc agcgacagcg ggatgcctcc cctggcaggg gctcccatgg ccagactccg
     1441 tccccagggg ccctgccctt gggccgccag acctcccagc agcccgcagg gcccccggct
     1501 cagcagcgac ccccaccaca gggcggccct ccacagccgg gtccaggccc ccagcgccag
     1561 ggacccccat tgcagcagcg cccgcccccg cagggccagc agcacctttc aggccttgga
     1621 cccccagctg gcagccccct gccccagcgc cttccaagtc ccacctcagc gccccagcag
     1681 cccgcgtccc aggccgcgcc gccgacccag ggtcaaggcc gccaatcccg gccagtggcg
     1741 ggaggccccg gggcgcctcc agcagcccgc ccgcccgcct ctccgtctcc ccagcgccag
     1801 gcgggccccc cacaggctac ccgtcagaca tccgtctctg gcccggctcc gccaaaggcc
     1861 tctggggccc caccgggcgg gcagcagcgc cagggcccgc cccagaaacc cccaggccca
     1921 gccggcccca cacgccaggc cagccaggcg ggtcccgtgc cccgcactgg gccacccacc
     1981 acgcagcagc ctcggcccag cggcccgggc cccgctggac gtcccaaacc acagctggcc
     2041 cagaaaccca gccaggacgt gccgccaccc gccaccgccg ctgcaggggg acctccgcac
     2101 ccccagctca acaaatccca gtctctgacc aatgccttca accttccaga gccagccccg
     2161 cccaggccca gccttagcca ggacgaggtg aaagctgaga ccatccgcag cctgaggaag
     2221 tctttcgcca gcctcttctc cgactgatac cccactctga gaaccccaaa atccctgggc
     2281 aacccttctc tgggccctga atccatttct cacttttgga gtctccaaat cccttgagaa
     2341 cccatctccc ggttctccaa gattccacct ctcattcctc aagatccccg agtaccttga
     2401 gaaacctgac tcctcctggc cctaaatccg gttctcacat gtggaatccc caagtccttt
     2461 tagaacccca ctcgtggtca cttcaggatc tacttctgtt ttagaacctc cacattcctg
     2521 aagacctccg cccctggttt ccccagaggg cgttttcctt cctggaagtg cccaaatacc
     2581 aggcaaccca ttgcagaatc ccttcctgga gccctgaagt tcctggaaaa ccctattttt
     2641 ggtcccaaat ctctccagca cacctatttc ccatcataat tttccaaatc ctcaagaaac
     2701 ccctactgtt gagccccttc ccatggatct tccatccctc tgaagatcca catcttcaaa
     2761 tgccacccaa cacctagccc cacaaggatt tcccttcacc agctcccctc aacctcattc
     2821 aataccttgg gagcccctcc cacttccagg acccctcggt tcccccaggg accccctccc
     2881 cagtttcctg cctctgacag ctgtctttaa atatgcaaac tccacccatc ttcccagaat
     2941 cctttgcaca cggaaggcca gtggtctccg cttccccacc tttgctgtgg tgtctgtgtc
     3001 tgtgactgac gtggcctcct tttgtgccgt gcttggcata tgtggtcctc gttcatcgtg
     3061 ccgcctgtgg tgatgcgtgc agtgacgctg tttatgtggt ccgcacctcc ccctgacctt
     3121 cactccttgc ctggactcac cccacccctc agcggctctg aaccccaaga gaagagtcgg
     3181 gaaacaaaat aaacaagcaa aggcccagca
//
