LOCUS       NM_030786               3503 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens syncoilin, intermediate filament protein (SYNC),
            transcript variant 1, mRNA.
ACCESSION   NM_030786
VERSION     NM_030786.3
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 3503)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 3503)
  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   3  (bases 1 to 3503)
  AUTHORS   Wang,D., Deng,L., Xu,X., Ji,Y. and Jiao,Z.
  TITLE     Elevated SYNC Expression Is Associated with Gastric Tumorigenesis
            and Infiltration of M2-Polarized Macrophages in the Gastric Tumor
            Immune Microenvironment
  JOURNAL   Genet Test Mol Biomarkers 25 (3), 236-246 (2021)
   PUBMED   33734892
  REMARK    GeneRIF: Elevated SYNC Expression Is Associated with Gastric
            Tumorigenesis and Infiltration of M2-Polarized Macrophages in the
            Gastric Tumor Immune Microenvironment.
            Erratum:[Genet Test Mol Biomarkers. 2021 May;25(5):383-384. doi:
            10.1089/gtmb.2020.0131.correx.. PMID: 34003696]
REFERENCE   4  (bases 1 to 3503)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3503)
  AUTHORS   Clarke,W.T., Edwards,B., McCullagh,K.J., Kemp,M.W., Moorwood,C.,
            Sherman,D.L., Burgess,M. and Davies,K.E.
  TITLE     Syncoilin modulates peripherin filament networks and is necessary
            for large-calibre motor neurons
  JOURNAL   J Cell Sci 123 (Pt 15), 2543-2552 (2010)
   PUBMED   20587592
  REMARK    GeneRIF: Syncoilin modulates peripherin filament network formation.
REFERENCE   6  (bases 1 to 3503)
  AUTHORS   Jordanova,A., Irobi,J., Thomas,F.P., Van Dijck,P., Meerschaert,K.,
            Dewil,M., Dierick,I., Jacobs,A., De Vriendt,E., Guergueltcheva,V.,
            Rao,C.V., Tournev,I., Gondim,F.A., D'Hooghe,M., Van Gerwen,V.,
            Callaerts,P., Van Den Bosch,L., Timmermans,J.P., Robberecht,W.,
            Gettemans,J., Thevelein,J.M., De Jonghe,P., Kremensky,I. and
            Timmerman,V.
  TITLE     Disrupted function and axonal distribution of mutant tyrosyl-tRNA
            synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
  JOURNAL   Nat Genet 38 (2), 197-202 (2006)
   PUBMED   16429158
REFERENCE   7  (bases 1 to 3503)
  AUTHORS   Brown,S.C., Torelli,S., Ugo,I., De Biasia,F., Howman,E.V., Poon,E.,
            Britton,J., Davies,K.E. and Muntoni,F.
  TITLE     Syncoilin upregulation in muscle of patients with neuromuscular
            disease
  JOURNAL   Muscle Nerve 32 (6), 715-725 (2005)
   PUBMED   16124004
  REMARK    GeneRIF: the result of this study raise the possibility that
            mutations in the gene encoding for syncoilin may underlie some
            forms of muscle disease.
REFERENCE   8  (bases 1 to 3503)
  AUTHORS   Poon,E., Howman,E.V., Newey,S.E. and Davies,K.E.
  TITLE     Association of syncoilin and desmin: linking intermediate filament
            proteins to the dystrophin-associated protein complex
  JOURNAL   J Biol Chem 277 (5), 3433-3439 (2002)
   PUBMED   11694502
REFERENCE   9  (bases 1 to 3503)
  AUTHORS   Newey,S.E., Howman,E.V., Ponting,C.P., Benson,M.A., Nawrotzki,R.,
            Loh,N.Y., Davies,K.E. and Blake,D.J.
  TITLE     Syncoilin, a novel member of the intermediate filament superfamily
            that interacts with alpha-dystrobrevin in skeletal muscle
  JOURNAL   J Biol Chem 276 (9), 6645-6655 (2001)
   PUBMED   11053421
REFERENCE   10 (bases 1 to 3503)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114489.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_030786.2.
            
            Summary: This gene encodes a member of the intermediate filament
            family which contains an N-terminal head domain, followed by a
            central coiled-coil region and a short C-terminal tail. The protein
            is highly expressed in skeletal and cardiac muscle. The protein
            links the dystrophin associated protein complex (DAPC) to desmin
            filaments in muscle and may have a structural role in striated
            muscle. Multiple transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jun 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: SRR1803617.5705.1,
                                           SRR1803615.37200.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409190.8/ ENSP00000386439.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-163               AC114489.2         66805-66967         c
            164-1343            AC114489.2         59062-60241         c
            1344-1468           AC114489.2         48455-48579         c
            1469-1548           AC114489.2         48207-48286         c
            1549-3503           AC114489.2         44103-46057         c
FEATURES             Location/Qualifiers
     source          1..3503
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     gene            1..3503
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /note="syncoilin, intermediate filament protein"
                     /db_xref="GeneID:81493"
                     /db_xref="HGNC:HGNC:28897"
                     /db_xref="MIM:611750"
     exon            1..163
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1559
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /note="isoform 1 is encoded by transcript variant 1;
                     intermediate filament protein syncoilin; syncoilin-1;
                     syncoilin intermediate filament 1"
                     /codon_start=1
                     /product="syncoilin isoform 1"
                     /protein_id="NP_110413.3"
                     /db_xref="CCDS:CCDS367.2"
                     /db_xref="GeneID:81493"
                     /db_xref="HGNC:HGNC:28897"
                     /db_xref="MIM:611750"
                     /translation="MASPEPRRGGDGAAQAARKTRVEANSPLPKNSGSLNEAEALNPE
                     VTLSSEGSLNLEDILYLEDTGDLDETLYVQETEKAEEALYIEEAMQPDEALHVEEPGN
                     PEETVCVEETTEPDRIQFVEGPVEPGKPTSPEHVVYEGETVTRAEKSNPEESLRAEQS
                     PSMEENLSIEDLELLEGRFQQCVQAVAQLEEERDQLIHELVLLREPALQEVQQVHQDI
                     LAAYKLHAQAELERDGLREEIRLVKQKLFKVTKECVAYQYQLECRQQDVAQFADFREV
                     LTTRATQLSEELAQLRDAYQKQKEQLRQQLEAPPSQRDGHFLQESRRLSAQFENLMAE
                     SRQDLEEEYEPQFLRLLERKEAGTKALQRTQAEIQEMKEALRPLQAEARQLRLQNRNL
                     EDQIALVRQKRDEEVQQYREQLEEMEERQRQLRNGVQLQQQKNKEMEQLRLSLAEELS
                     TYKAMLLPKSLEQADAPTSQAGGMETQSQGAV"
     exon            164..1343
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1468
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1548
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..3503
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3294..3299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /note="hexamer: AATAAA"
     polyA_site      3322
                     /gene="SYNC"
                     /gene_synonym="SYNC1; SYNCOILIN"
                     /note="major polyA site"
ORIGIN      
        1 gggatccggt gtcggttgca gctggcagtg cggcgggcgc gggcgccgga gcgaggggcc
       61 cgcgggcccg gctattaata acgcggccgc cagcccgggg tcgcgcagcc atggccagcc
      121 cggagccccg gcgcggcggg gacggcgccg cccaggccgc gaggaaaaca agagtagagg
      181 ccaattctcc tcttccaaag aactctggat ccctaaatga ggcagaagcc ttgaacccag
      241 aagttactct atcttcagag gggtccttaa acctcgaaga cattctctac ctggaggaca
      301 caggtgacct tgatgagaca ctctatgtgc aagagactga gaaggcagag gaggccctgt
      361 atattgagga ggccatgcag ccagatgagg ctctgcatgt ggaggagcct gggaatccag
      421 aggagacagt gtgtgtggag gaaaccacgg agccagatcg gatacagttt gtggaggggc
      481 ccgtggagcc aggaaagccc acaagcccag agcacgttgt ttatgaggga gagacagtca
      541 caagggcgga gaaatctaac cctgaggaga gcctcagagc cgagcagagc cccagcatgg
      601 aggagaacct gagcatagag gacctggaat tgctagaggg gcgtttccag cagtgtgtcc
      661 aagctgtggc ccagctggaa gaggagaggg atcagctcat ccatgagctt gtattgctcc
      721 gggaaccagc cctgcaggag gtacagcaag tccatcaaga catcctggct gcctacaagc
      781 tccatgccca agcagagctg gagagagatg gcctaaggga ggagatccgg ctggtcaagc
      841 agaagctttt caaagtgaca aaggaatgtg tggcctacca ataccagctg gagtgccgcc
      901 agcaggacgt ggctcagttt gccgatttcc gggaagtgct gactacaagg gcaacccagc
      961 tctcagagga actggcccag ctccgggatg cctatcagaa gcagaaggag cagctgcggc
     1021 aacaactaga agcccctcca agccagaggg atgggcactt tctccaggaa agccggcgac
     1081 tctctgccca gtttgaaaat ctcatggcag agagccgcca ggacctggag gaggagtatg
     1141 agcctcagtt cctgcggctc ctagagagga aagaagctgg gaccaaagct ctgcagagaa
     1201 cccaggctga gatccaggaa atgaaggagg ctctgagacc cctgcaagca gaggcccggc
     1261 agctccgcct gcaaaacagg aacctggagg accagatcgc acttgtgagg caaaaacgag
     1321 atgaagaggt gcagcagtac agggaacagc tggaggaaat ggaagaacgc cagaggcagt
     1381 taagaaatgg ggtgcaactc cagcaacaga agaacaaaga gatggaacag ctaaggctca
     1441 gtcttgctga agagctctct acttataagg ctatgctact acccaagagc ctggaacagg
     1501 ctgatgctcc cacttctcag gcaggtggaa tggagacaca gtctcaaggg gctgtttaga
     1561 aatatatggc caaatctgta acccggaaac agcaaaaaac ttcttagcaa aggatcacta
     1621 agtacccttt ggatgtactc ttccaaccag acaagagtgc cagaaacttg gcaagcaatt
     1681 catcctgtgg aagttgcaaa tactggctga cctgcttaaa aagattctag agttggccgg
     1741 aggcagaaca tgtcaactct ttgctggatt ctatttcatc tgctgttgat actgatctca
     1801 atgcaccaag gaaaggaaag atgagcctcc tgtcttccag caacaaccct cacatatgca
     1861 ctgagtgaag gatgaatgta tggacacatc tgggagtatt ttaaagaatg tatcttgcct
     1921 tgtgttgacc caaaccaaaa acatttttga ggggcacatg tggggtcaaa aagatagcca
     1981 atttccatta catgggttta caatttccat tcttttgtgc cacgagtgtt agaatttaaa
     2041 tgaatacttt tacaaagtct actttttgtt caaggatatg ctgacccata tagtttactc
     2101 ttaaaattgt gtcaaggtat ttctcactat actctaaaac aactagactt gaaaagaaac
     2161 catttgagat ttgaatctaa tggttaacgc tattcagatt ttcccaaaga tcttacctca
     2221 tgaaagtagt tctgggtcag aatgatctac tcagttaaaa aacaacaaca acaaaaaact
     2281 aagcgattgg gaaaaaacag gaattttatc tggttattgc atctggtgat agaggccttc
     2341 aaagcctatt atttctaacc taagtaaagg ccccagtgaa aaacatactg gggaaataaa
     2401 acctctgaga aaaggttcaa gcaccttttc caaatttaaa tcttgcctta aattctctct
     2461 accacactgc ctttgacact cttggaagtc catgtagttc tctacagata gacttcaaag
     2521 aaacgttacc ttatcaaaga ctaatctgtg ccacctctga ttcagtgttt tatgtctttc
     2581 actttccctg ggaaggagta aagttctttt ctacagctct gggactatta catttaattc
     2641 tgctcttgat agtcaaagac catggacaac aactgtcatc tgaaggactc ttctagaagc
     2701 cagagactgg tgtttgatgg atgttttata ctaaataaaa cccatcagca tggggttatg
     2761 tagaaaagca atttattcca ttttaagcac ttacacagtt agtcatggag agtaacaggc
     2821 ctgctggtga aacaggtcac ccaaaatgga gatggcatca aactagtggt caaggactaa
     2881 ctcctaaaaa aaaaaagcaa ctcttatcaa ggattaattt aatttttaaa acaaatacaa
     2941 gttattgatt cactcttctc aacttgacag tctacctgtg gtataactgt caggtaaaaa
     3001 catacatctt tacaacttgg tggtcccaag ttaaaaaaaa aaaaaaaaaa accaacaaca
     3061 aaaaaaaaaa caccatttca cagacaggaa ataaacaaca tgaaaacagc tcaagaaata
     3121 cactaacgag caaaaatata tgaatatatg gggaaagagg aacgtgttgt tttgacttaa
     3181 ctgaagaaac caagaggaaa ctggtctacg tatgaaaatg tgcatcctgg aaagtcaggt
     3241 gtcaagattt tcgagtagga atctatatga cttgaatctc cccctatttc ctgaataaaa
     3301 gtgacatctt tcagtattta tacttcatgg ctcagacacc tacctcattt ggctctattc
     3361 cttactcact ctagccttta cttaaatgag tctgaaaaac ttggggatat agcataagaa
     3421 gaaaaataat cacacataat attccccttt ctgtagctac tttagacctg ggttactaga
     3481 aaattcctga agaaaatttc aac
//
