LOCUS       NM_144573               3282 bp    mRNA    linear   PRI 13-DEC-2024
DEFINITION  Homo sapiens nexilin F-actin binding protein (NEXN), transcript
            variant 1, mRNA.
ACCESSION   NM_144573
VERSION     NM_144573.4
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 3282)
  AUTHORS   Hermida,A., Ader,F., Millat,G., Jedraszak,G., Maury,P., Cador,R.,
            Catalan,P.A., Clerici,G., Combes,N., De Groote,P.,
            Dupin-Deguine,D., Eschalier,R., Faivre,L., Garcia,P., Guillon,B.,
            Janin,A., Kugener,B., Lackmy,M., Laredo,M., Le Guillou,X.,
            Lesaffre,F., Lucron,H., Milhem,A., Nadeau,G., Nguyen,K.,
            Palmyre,A., Perdreau,E., Picard,F., Rebotier,N., Richard,P.,
            Rooryck,C., Seitz,J., Verloes,A., Vernier,A., Winum,P.,
            Yabeta,G.A., Bouchot,O., Chevalier,P., Charron,P. and
            Gandjbakhch,E.
  TITLE     NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths:
            Prevalence, Phenotypic Expression, and Prognosis
  JOURNAL   Circ Genom Precis Med 17 (1), e004285 (2024)
   PUBMED   38059363
  REMARK    GeneRIF: NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths:
            Prevalence, Phenotypic Expression, and Prognosis.
REFERENCE   2  (bases 1 to 3282)
  AUTHORS   Johansson,J., Frykholm,C., Ericson,K., Kazamia,K., Lindberg,A.,
            Mulaiese,N., Falck,G., Gustafsson,P.E., Lideus,S., Gudmundsson,S.,
            Ameur,A., Bondeson,M.L. and Wilbe,M.
  TITLE     Loss of Nexilin function leads to a recessive lethal fetal
            cardiomyopathy characterized by cardiomegaly and endocardial
            fibroelastosis
  JOURNAL   Am J Med Genet A 188 (6), 1676-1687 (2022)
   PUBMED   35166435
  REMARK    GeneRIF: Loss of Nexilin function leads to a recessive lethal fetal
            cardiomyopathy characterized by cardiomegaly and endocardial
            fibroelastosis.
REFERENCE   3  (bases 1 to 3282)
  AUTHORS   Bruyndonckx,L., Vogelzang,J.L., Bugiani,M., Straver,B.,
            Kuipers,I.M., Onland,W., Nannenberg,E.A., Clur,S.A. and van der
            Crabben,S.N.
  TITLE     Childhood onset nexilin dilated cardiomyopathy: A heterozygous and
            a homozygous case
  JOURNAL   Am J Med Genet A 185 (8), 2464-2470 (2021)
   PUBMED   33949776
  REMARK    GeneRIF: Childhood onset nexilin dilated cardiomyopathy: A
            heterozygous and a homozygous case.
            Review article
REFERENCE   4  (bases 1 to 3282)
  AUTHORS   Hassel,D., Dahme,T., Erdmann,J., Meder,B., Huge,A., Stoll,M.,
            Just,S., Hess,A., Ehlermann,P., Weichenhan,D., Grimmler,M.,
            Liptau,H., Hetzer,R., Regitz-Zagrosek,V., Fischer,C., Nurnberg,P.,
            Schunkert,H., Katus,H.A. and Rottbauer,W.
  TITLE     Nexilin mutations destabilize cardiac Z-disks and lead to dilated
            cardiomyopathy
  JOURNAL   Nat Med 15 (11), 1281-1288 (2009)
   PUBMED   19881492
  REMARK    GeneRIF: The findings of thi study on the role of nexilin in
            maintaining cardiac Z-disk integrity and on the workload dependence
            to cardiac Z-disk damage in nexilin-linked cardiomyopathy also
            might have implications for the treatment of NEXN-mutation
            carriers.
REFERENCE   5  (bases 1 to 3282)
  AUTHORS   Wang,W., Zhang,W., Han,Y., Chen,J., Wang,Y., Zhang,Z. and Hui,R.
  TITLE     NELIN, a new F-actin associated protein, stimulates HeLa cell
            migration and adhesion
  JOURNAL   Biochem Biophys Res Commun 330 (4), 1127-1131 (2005)
   PUBMED   15823560
  REMARK    GeneRIF: NELIN product is an F-actin associated protein and
            mediates cell motility
REFERENCE   6  (bases 1 to 3282)
  AUTHORS   Zhao,Y., Wei,Y.J., Cao,H.Q. and Ding,J.F.
  TITLE     Molecular Cloning of NELIN, a Putative Human Cytoskeleton
            Regulation Gene
  JOURNAL   Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) 33 (1), 19-24
            (2001)
   PUBMED   12053183
REFERENCE   7  (bases 1 to 3282)
  AUTHORS   Ohtsuka,T., Nakanishi,H., Ikeda,W., Satoh,A., Momose,Y.,
            Nishioka,H. and Takai,Y.
  TITLE     Nexilin: a novel actin filament-binding protein localized at
            cell-matrix adherens junction
  JOURNAL   J Cell Biol 143 (5), 1227-1238 (1998)
   PUBMED   9832551
REFERENCE   8  (bases 1 to 3282)
  AUTHORS   Elisei,R., Weightman,D., Kendall-Taylor,P., Vassart,G. and
            Ludgate,M.
  TITLE     Muscle autoantigens in thyroid associated ophthalmopathy: the
            limits of molecular genetics
  JOURNAL   J Endocrinol Invest 16 (7), 533-540 (1993)
   PUBMED   8227983
REFERENCE   9  (bases 1 to 3282)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
REFERENCE   10 (bases 1 to 3282)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC412178.1, DQ464902.1,
            AF114264.1 and BQ009808.1.
            
            On Feb 27, 2020 this sequence version replaced NM_144573.3.
            
            Summary: This gene encodes a filamentous actin-binding protein that
            may function in cell adhesion and migration. Mutations in this gene
            have been associated with dilated cardiomyopathy, also known as
            CMD1CC. Alternatively spliced transcript variants have been
            described.[provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: DQ464902.1, SRR14038196.1118046.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334785.12/ ENSP00000333938.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DC412178.1         110-113
            5-2611              DQ464902.1         1-2607
            2612-3278           AF114264.1         2070-2736
            3279-3282           BQ009808.1         15-18               c
FEATURES             Location/Qualifiers
     source          1..3282
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..3282
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /note="nexilin F-actin binding protein"
                     /db_xref="GeneID:91624"
                     /db_xref="HGNC:HGNC:29557"
                     /db_xref="MIM:613121"
     exon            1..136
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            137..215
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..2216
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="nexilin isoform 1"
                     /protein_id="NP_653174.3"
                     /db_xref="CCDS:CCDS41351.1"
                     /db_xref="GeneID:91624"
                     /db_xref="HGNC:HGNC:29557"
                     /db_xref="MIM:613121"
                     /translation="MNDISQKAEILLSSSKPVPKTYVPKLGKGDVKDKFEAMQRAREE
                     RNQRRSRDEKQRRKEQYIREREWNRRKQEIKEMLASDDEEDVSSKVEKAYVPKLTGTV
                     KGRFAEMEKQRQEEQRKRTEEERKRRIEQDMLEKRKIQRELAKRAEQIEDINNTGTES
                     ASEEGDDSLLITVVPVKSYKTSGKMKKNFEDLEKEREEKERIKYEEDKRIRYEEQRPS
                     LKEAKCLSLVMDDEIESEAKKESLSPGKLKLTFEELERQRQENRKKQAEEEARKRLEE
                     EKRAFEEARRQMVNEDEENQDTAKIFKGYRPGKLKLSFEEMERQRREDEKRKAEEEAR
                     RRIEEEKKAFAEARRNMVVDDDSPEMYKTISQEFLTPGKLEINFEELLKQKMEEEKRR
                     TEEERKHKLEMEKQEFEQLRQEMGEEEEENETFGLSREYEELIKLKRSGSIQAKNLKS
                     KFEKIGQLSEKEIQKKIEEERARRRAIDLEIKEREAENFHEEDDVDVRPARKSEAPFT
                     HKVNMKARFEQMAKAREEEEQRRIEEQKLLRMQFEQREIDAALQKKREEEEEEEGSIM
                     NGSTAEDEEQTRSGAPWFKKPLKNTSVVDSEPVRFTVKVTGEPKPEITWWFEGEILQD
                     GEDYQYIERGETYCLYLPETFPEDGGEYMCKAVNNKGSAASTCILTIESKN"
     exon            216..407
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            408..486
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            487..635
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            636..677
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            678..875
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            876..1052
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1241
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1439
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1661
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1847
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1848..3282
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3258..3263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /note="hexamer: AATAAA"
     polyA_site      3282
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /note="major polyA site"
ORIGIN      
        1 agccagagga ctcccagcgg ctggagcaga agtgttagcg gccagagctc ccagacccct
       61 acccacagcc aggcgggacg cgcacagtcc ctccacgcgg aaagaagtac cttcgccggt
      121 caccggctcc tgcagggtgc aaatatatac agagcttcat aatcagccca agaccacata
      181 gagcaaacat gaatgatatt tcccaaaagg ctgagattct gctttcttca tctaaacctg
      241 tcccaaaaac ctatgtacca aaacttggca agggtgatgt aaaggataag tttgaagcca
      301 tgcagagagc cagggaagaa agaaatcaaa ggagatctag agacgaaaaa caaagaagaa
      361 aagaacaata tattagagag agagaatgga acaggagaaa gcaggagatt aaagaaatgc
      421 ttgcttctga tgatgaggaa gatgtatctt ctaaagtaga aaaggcttat gttccaaaat
      481 taacaggaac tgtgaagggt agatttgctg aaatggagaa acaaagacaa gaggaacaaa
      541 ggaagagaac ggaggaggaa cgaaaacgca gaattgagca ggatatgtta gaaaagagga
      601 aaatacagcg tgaattagca aaaagggctg aacagattga ggacataaac aatacgggaa
      661 ctgaatcagc atcagaggaa ggagatgatt cactacttat aactgtggta cctgtcaaat
      721 catataaaac atctggaaaa atgaaaaaga attttgagga tctagaaaaa gaacgtgaag
      781 agaaagaaag gatcaagtac gaggaagata aaagaataag atatgaagaa caacgaccat
      841 ctctcaagga agcaaagtgt ctttcattag ttatggatga tgaaatagaa agtgaagcaa
      901 aaaaagaatc actttctccc ggaaaattga aactaacttt tgaagaactg gagcgacaaa
      961 gacaagaaaa ccgaaagaag caagctgaag aggaagcaag aaaacgttta gaagaagaga
     1021 agcgtgcttt tgaagaagca aggcggcaaa tggtaaatga agatgaggaa aaccaagaca
     1081 cagcaaaaat ttttaaaggg taccgccctg gtaaactcaa actcagtttt gaagaaatgg
     1141 aaaggcaaag aagagaagat gaaaaaagga aagcagaaga agaagccaga aggagaatag
     1201 aggaagaaaa gaaggcgttt gctgaagcaa ggagaaatat ggtagtagat gatgactccc
     1261 cagagatgta taagacaatc tctcaagaat ttcttacacc gggaaaactg gaaattaatt
     1321 ttgaagaatt attaaaacaa aaaatggaag aagaaaaacg acgaacagag gaggaacgga
     1381 agcataagct agaaatggag aaacaagaat ttgaacaact gagacaggaa atgggagagg
     1441 aagaggaaga aaatgaaacc tttggattga gcagagaata tgaagaactg atcaaattaa
     1501 aaaggagtgg ctctattcaa gctaaaaacc taaaaagcaa gtttgaaaaa attggacagt
     1561 tgtctgaaaa agaaatacag aaaaaaatag aagaagagcg agcaagaagg agagcaattg
     1621 accttgaaat taaagagcga gaagctgaaa attttcatga ggaagatgat gttgatgtta
     1681 ggcctgcaag aaaaagcgag gctccattta ctcacaaagt gaatatgaaa gctagatttg
     1741 aacaaatggc taaggcaaga gaagaagaag aacaaagaag aattgaagaa caaaagttac
     1801 tacgcatgca gtttgaacaa agggaaattg atgcagcact acaaaagaaa agagaagagg
     1861 aggaggagga agaaggtagc atcatgaatg gctccactgc tgaagatgaa gagcaaacca
     1921 gatcaggagc tccatggttc aagaagcctc ttaaaaacac atcagttgta gacagtgagc
     1981 cagtcagatt tacggttaaa gtaacaggag aacccaaacc agaaattaca tggtggtttg
     2041 aaggagaaat actgcaggat ggagaagact atcaatatat tgaaagggga gaaacttact
     2101 gcctttactt accagaaact ttcccagaag atggaggaga gtatatgtgt aaagcagtca
     2161 acaataaagg atctgcagct agtacctgta ttcttaccat tgaaagtaag aattaatcac
     2221 tctttttatc ttttattcta ttaatttttt tttccttaaa atcacttttc ttcttctctt
     2281 ttttagctga tgactactag ctcccctccc ctctccctgg aactttctct ttcactccaa
     2341 ctttcttact acatccatct tttctgtggc ggggccaaaa aaggaaacca ggagtgccac
     2401 tatgctgact tcttattcct tttcataaca gtcttcaaag cacagctcat ctaaagaatg
     2461 cctacttctt ttccaaataa gcatcagatt tatcgcctat tatgcagtaa cagtcaataa
     2521 aatgtactta tgggggggaa ttactcaatt attctatcag aacctattat aaagactgta
     2581 tttcccatag acgtttacag caactatgtt taaaaaacaa aaacaaaaaa aaaacacaca
     2641 aacctaagta gaatacatta ttttgcatga aggaatgtca tttctgagct ttttacacct
     2701 aaaattaggc tgaaatagct gagataatta atttggaacc tatcaatttg agtggacttt
     2761 ttctttagta gtacaccatt ttggttgttg tagtttcaaa gtctttctga agcagatata
     2821 ttgggattgg agcggggtgg ggaaaactgt cactcctttc agaggaaaag gggaggagca
     2881 tggagaaaaa caaaaattaa aggacttaaa gaatggctat acagtgttga gtgttgagga
     2941 tattaaacat gttatttttc aaacgtatgt aatatatatt aaatttataa agcaaattta
     3001 tgttgtgatc ttgcctgaac aaattatatt ttaatgaaaa aactttctat taatagttca
     3061 cgcaagagaa aacactttca acatagtcga aggcttcaag atctaagtgt atcagactta
     3121 gggaaaaagt ggcacaacct tcgatttaaa attctagtct ttaaaatgag tttgtaaata
     3181 attagctatt acgttctatt aagttgtttt atattttaat tttctggaag acaattttat
     3241 tttacaacgt gaacccaaat aaagtaactt ctgtatttaa aa
//
