LOCUS       NM_000345               3177 bp    mRNA    linear   PRI 04-MAR-2025
DEFINITION  Homo sapiens synuclein alpha (SNCA), transcript variant 1, mRNA.
ACCESSION   NM_000345
VERSION     NM_000345.4
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 3177)
  AUTHORS   Aggarwal,L., Karmakar,S. and Biswas,P.
  TITLE     Differentially heterogeneous hydration environment of the familial
            mutants of alpha-synuclein
  JOURNAL   J Chem Phys 161 (15) (2024)
   PUBMED   39412059
  REMARK    GeneRIF: Differentially heterogeneous hydration environment of the
            familial mutants of alpha-synuclein.
REFERENCE   2  (bases 1 to 3177)
  AUTHORS   Kametani,F., Tahira,M., Takao,M., Matsubara,T., Hasegawa,K.,
            Yoshida,M., Saito,Y., Murayama,S. and Hasegawa,M.
  TITLE     Analysis and comparison of post-translational modifications of
            alpha-synuclein filaments in multiple system atrophy and dementia
            with Lewy bodies
  JOURNAL   Sci Rep 14 (1), 22892 (2024)
   PUBMED   39358446
  REMARK    GeneRIF: Analysis and comparison of post-translational
            modifications of alpha-synuclein filaments in multiple system
            atrophy and dementia with Lewy bodies.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3177)
  AUTHORS   Xia,P., Cao,Y., Zhao,Q. and Li,H.
  TITLE     Energy gap of conformational transition related with temperature
            for the NACore of alpha-synuclein
  JOURNAL   Phys Chem Chem Phys 26 (35), 23062-23072 (2024)
   PUBMED   39175373
  REMARK    GeneRIF: Energy gap of conformational transition related with
            temperature for the NACore of alpha-synuclein.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3177)
  AUTHORS   Tripathi,A., Alnakhala,H., Brontesi,L., Selkoe,D. and Dettmer,U.
  TITLE     RXR nuclear receptor signaling modulates lipid metabolism and
            triggers lysosomal clearance of alpha-synuclein in neuronal models
            of synucleinopathy
  JOURNAL   Cell Mol Life Sci 81 (1), 362 (2024)
   PUBMED   39162859
  REMARK    GeneRIF: RXR nuclear receptor signaling modulates lipid metabolism
            and triggers lysosomal clearance of alpha-synuclein in neuronal
            models of synucleinopathy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3177)
  AUTHORS   Martins,G.F. and Galamba,N.
  TITLE     Wild-Type alpha-Synuclein Structure and Aggregation: A
            Comprehensive Coarse-Grained and All-Atom Molecular Dynamics Study
  JOURNAL   J Chem Inf Model 64 (15), 6115-6131 (2024)
   PUBMED   39046235
  REMARK    GeneRIF: Wild-Type alpha-Synuclein Structure and Aggregation: A
            Comprehensive Coarse-Grained and All-Atom Molecular Dynamics Study.
REFERENCE   6  (bases 1 to 3177)
  AUTHORS   Spillantini,M.G., Divane,A. and Goedert,M.
  TITLE     Assignment of human alpha-synuclein (SNCA) and beta-synuclein
            (SNCB) genes to chromosomes 4q21 and 5q35
  JOURNAL   Genomics 27 (2), 379-381 (1995)
   PUBMED   7558013
REFERENCE   7  (bases 1 to 3177)
  AUTHORS   Chen,X., de Silva,H.A., Pettenati,M.J., Rao,P.N., St
            George-Hyslop,P., Roses,A.D., Xia,Y., Horsburgh,K., Ueda,K. and
            Saitoh,T.
  TITLE     The human NACP/alpha-synuclein gene: chromosome assignment to
            4q21.3-q22 and TaqI RFLP analysis
  JOURNAL   Genomics 26 (2), 425-427 (1995)
   PUBMED   7601479
REFERENCE   8  (bases 1 to 3177)
  AUTHORS   Campion,D., Martin,C., Heilig,R., Charbonnier,F., Moreau,V.,
            Flaman,J.M., Petit,J.L., Hannequin,D., Brice,A. and Frebourg,T.
  TITLE     The NACP/synuclein gene: chromosomal assignment and screening for
            alterations in Alzheimer disease
  JOURNAL   Genomics 26 (2), 254-257 (1995)
   PUBMED   7601450
REFERENCE   9  (bases 1 to 3177)
  AUTHORS   Ueda,K., Saitoh,T. and Mori,H.
  TITLE     Tissue-dependent alternative splicing of mRNA for NACP, the
            precursor of non-A beta component of Alzheimer's disease amyloid
  JOURNAL   Biochem Biophys Res Commun 205 (2), 1366-1372 (1994)
   PUBMED   7802671
REFERENCE   10 (bases 1 to 3177)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301402
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI815523.1, BC108275.1 and
            AC097478.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000345.3.
            
            Summary: Alpha-synuclein is a member of the synuclein family, which
            also includes beta- and gamma-synuclein. Synucleins are abundantly
            expressed in the brain and alpha- and beta-synuclein inhibit
            phospholipase D2 selectively. SNCA may serve to integrate
            presynaptic signaling and membrane trafficking. Defects in SNCA
            have been implicated in the pathogenesis of Parkinson disease. SNCA
            peptides are a major component of amyloid plaques in the brains of
            patients with Alzheimer's disease. Alternatively spliced
            transcripts encoding different isoforms have been identified for
            this gene. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1, also known as NACP140) is the
            longest transcript and encodes the longer isoform (NACP140).
            Variants 1, 2, and 3 all encode the same isoform.
            
            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.
            
            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 :: SRR1803612.57584.1,
                                           SRR1803612.110177.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394991.8/ ENSP00000378442.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AI815523.1         39-46
            9-1540              BC108275.1         1-1532
            1541-3177           AC097478.2         109101-110737       c
FEATURES             Location/Qualifiers
     source          1..3177
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..3177
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="synuclein alpha"
                     /db_xref="GeneID:6622"
                     /db_xref="HGNC:HGNC:11138"
                     /db_xref="MIM:163890"
     exon            1..200
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            201..346
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             226..648
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="isoform NACP140 is encoded by transcript variant 1;
                     non A-beta component of AD amyloid; synuclein alpha-140;
                     synuclein, alpha (non A4 component of amyloid precursor);
                     I+/--synuclein"
                     /codon_start=1
                     /product="alpha-synuclein isoform NACP140"
                     /protein_id="NP_000336.1"
                     /db_xref="CCDS:CCDS3634.1"
                     /db_xref="GeneID:6622"
                     /db_xref="HGNC:HGNC:11138"
                     /db_xref="MIM:163890"
                     /translation="MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKT
                     KEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQKTVEGAGSIAAATGFVKKDQLGK
                     NEEGAPQEGILEDMPVDPDNEAYEMPSEEGYQDYEPEA"
     exon            347..388
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            389..531
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            532..615
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            616..3177
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1196..1201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="hexamer: AATAAA"
     polyA_site      1221
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="major polyA site"
     regulatory      2142..2147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="hexamer: AATAAA"
     polyA_site      2162
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
     regulatory      3156..3161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="hexamer: AATATA"
     polyA_site      3177
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
ORIGIN      
        1 ggcgacgacc agaaggggcc caagagaggg ggcgagcgac cgagcgccgc gacgcggaag
       61 tgaggtgcgt gcgggctgca gcgcagaccc cggcccggcc cctccgagag cgtcctgggc
      121 gctccctcac gccttgcctt caagccttct gcctttccac cctcgtgagc ggagaactgg
      181 gagtggccat tcgacgacag tgtggtgtaa aggaattcat tagccatgga tgtattcatg
      241 aaaggacttt caaaggccaa ggagggagtt gtggctgctg ctgagaaaac caaacagggt
      301 gtggcagaag cagcaggaaa gacaaaagag ggtgttctct atgtaggctc caaaaccaag
      361 gagggagtgg tgcatggtgt ggcaacagtg gctgagaaga ccaaagagca agtgacaaat
      421 gttggaggag cagtggtgac gggtgtgaca gcagtagccc agaagacagt ggagggagca
      481 gggagcattg cagcagccac tggctttgtc aaaaaggacc agttgggcaa gaatgaagaa
      541 ggagccccac aggaaggaat tctggaagat atgcctgtgg atcctgacaa tgaggcttat
      601 gaaatgcctt ctgaggaagg gtatcaagac tacgaacctg aagcctaaga aatatctttg
      661 ctcccagttt cttgagatct gctgacagat gttccatcct gtacaagtgc tcagttccaa
      721 tgtgcccagt catgacattt ctcaaagttt ttacagtgta tctcgaagtc ttccatcagc
      781 agtgattgaa gtatctgtac ctgcccccac tcagcatttc ggtgcttccc tttcactgaa
      841 gtgaatacat ggtagcaggg tctttgtgtg ctgtggattt tgtggcttca atctacgatg
      901 ttaaaacaaa ttaaaaacac ctaagtgact accacttatt tctaaatcct cactattttt
      961 ttgttgctgt tgttcagaag ttgttagtga tttgctatca tatattataa gatttttagg
     1021 tgtcttttaa tgatactgtc taagaataat gacgtattgt gaaatttgtt aatatatata
     1081 atacttaaaa atatgtgagc atgaaactat gcacctataa atactaaata tgaaatttta
     1141 ccattttgcg atgtgtttta ttcacttgtg tttgtatata aatggtgaga attaaaataa
     1201 aacgttatct cattgcaaaa atattttatt tttatcccat ctcactttaa taataaaaat
     1261 catgcttata agcaacatga attaagaact gacacaaagg acaaaaatat aaagttatta
     1321 atagccattt gaagaaggag gaattttaga agaggtagag aaaatggaac attaacccta
     1381 cactcggaat tccctgaagc aacactgcca gaagtgtgtt ttggtatgca ctggttcctt
     1441 aagtggctgt gattaattat tgaaagtggg gtgttgaaga ccccaactac tattgtagag
     1501 tggtctattt ctcccttcaa tcctgtcaat gtttgcttta cgtattttgg ggaactgttg
     1561 tttgatgtgt atgtgtttat aattgttata catttttaat tgagcctttt attaacatat
     1621 attgttattt ttgtctcgaa ataatttttt agttaaaatc tattttgtct gatattggtg
     1681 tgaatgctgt acctttctga caataaataa tattcgacca tgaataaaaa aaaaaaaaaa
     1741 gtgggttccc gggaactaag cagtgtagaa gatgattttg actacaccct ccttagagag
     1801 ccataagaca cattagcaca tattagcaca ttcaaggctc tgagagaatg tggttaactt
     1861 tgtttaactc agcattcctc actttttttt tttaatcatc agaaattctc tctctctctc
     1921 tctctttttc tctcgctctc tttttttttt tttttttaca ggaaatgcct ttaaacatcg
     1981 ttggaactac cagagtcacc ttaaaggaga tcaattctct agactgataa aaatttcatg
     2041 gcctccttta aatgttgcca aatatatgaa ttctaggatt tttccttagg aaaggttttt
     2101 ctctttcagg gaagatctat taactcccca tgggtgctga aaataaactt gatggtgaaa
     2161 aactctgtat aaattaattt aaaaattatt tggtttctct ttttaattat tctggggcat
     2221 agtcatttct aaaagtcact agtagaaagt ataatttcaa gacagaatat tctagacatg
     2281 ctagcagttt atatgtattc atgagtaatg tgatatatat tgggcgctgg tgaggaagga
     2341 aggaggaatg agtgactata aggatggtta ccatagaaac ttcctttttt acctaattga
     2401 agagagacta ctacagagtg ctaagctgca tgtgtcatct tacactagag agaaatggta
     2461 agtttcttgt tttatttaag ttatgtttaa gcaaggaaag gatttgttat tgaacagtat
     2521 atttcaggaa ggttagaaag tggcggttag gatatatttt aaatctacct aaagcagcat
     2581 attttaaaaa tttaaaagta ttggtattaa attaagaaat agaggacaga actagactga
     2641 tagcagtgac ctagaacaat ttgagattag gaaagttgtg accatgaatt taaggattta
     2701 tgtggataca aattctcctt taaagtgttt cttcccttaa tatttatctg acggtaattt
     2761 ttgagcagtg aattacttta tatatcttaa tagtttattt gggaccaaac acttaaacaa
     2821 aaagttcttt aagtcatata agccttttca ggaagcttgt ctcatattca ctcccgagac
     2881 attcacctgc caagtggcct gaggatcaat ccagtcctag gtttattttg cagacttaca
     2941 ttctcccaag ttattcagcc tcatatgact ccacggtcgg ctttaccaaa acagttcaga
     3001 gtgcactttg gcacacaatt gggaacagaa caatctaatg tgtggtttgg tattccaagt
     3061 ggggtctttt tcagaatctc tgcactagtg tgagatgcaa acatgtttcc tcatctttct
     3121 ggcttatcca gtatgtagct atttgtgaca taataaatat atacatatat gaaaata
//
