LOCUS       NM_001039876            1377 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens spectrin repeat containing nuclear envelope family
            member 4 (SYNE4), transcript variant 1, mRNA.
ACCESSION   NM_001039876
VERSION     NM_001039876.3
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 1377)
  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 1377)
  AUTHORS   Gurusaran,M. and Davies,O.R.
  TITLE     A molecular mechanism for LINC complex branching by structurally
            diverse SUN-KASH 6:6 assemblies
  JOURNAL   Elife 10, e60175 (2021)
   PUBMED   33393904
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1377)
  AUTHORS   Cruz,V.E., Esra Demircioglu,F. and Schwartz,T.U.
  TITLE     Structural Analysis of Different LINC Complexes Reveals Distinct
            Binding Modes
  JOURNAL   J Mol Biol 432 (23), 6028-6041 (2020)
   PUBMED   33058875
REFERENCE   4  (bases 1 to 1377)
  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 1377)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1377)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   7  (bases 1 to 1377)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   8  (bases 1 to 1377)
  AUTHORS   Horn,H.F., Brownstein,Z., Lenz,D.R., Shivatzki,S., Dror,A.A.,
            Dagan-Rosenfeld,O., Friedman,L.M., Roux,K.J., Kozlov,S.,
            Jeang,K.T., Frydman,M., Burke,B., Stewart,C.L. and Avraham,K.B.
  TITLE     The LINC complex is essential for hearing
  JOURNAL   J Clin Invest 123 (2), 740-750 (2013)
   PUBMED   23348741
  REMARK    GeneRIF: progressive high-frequency hearing loss in 2 families of
            Iraqi Jewish ancestry was due to homozygosity for mutation SYNE4
            c.228delAT. SYNE4, a gene not previously associated with hearing
            loss, encodes nesprin-4, a protein expressed in outer hair cells.
REFERENCE   9  (bases 1 to 1377)
  AUTHORS   Roux,K.J., Crisp,M.L., Liu,Q., Kim,D., Kozlov,S., Stewart,C.L. and
            Burke,B.
  TITLE     Nesprin 4 is an outer nuclear membrane protein that can induce
            kinesin-mediated cell polarization
  JOURNAL   Proc Natl Acad Sci U S A 106 (7), 2194-2199 (2009)
   PUBMED   19164528
REFERENCE   10 (bases 1 to 1377)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002116.1, BC038360.1,
            BC052573.1, AF038458.1 and AA991508.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001039876.2.
            
            Summary: This gene is a member of the nesprin family of genes, that
            encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing
            proteins. In addition to the KASH domain, this protein also
            contains a coiled-coil and leucine zipper region, a spectrin
            repeat, and a kinesin-1 binding region. This protein localizes to
            the outer nuclear membrane, and is part of the linker of
            nucleoskeleton and cytoskeleton (LINC) complex in the nuclear
            envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH
            pairs, and are thought to mechanically couple nuclear components to
            the cytoskeleton. Mutations in this gene have been associated with
            progressive high-frequency hearing loss. The absence of this
            protein in mice also caused hearing loss, and changes in hair cell
            morphology in the ears. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Aug 2015].
            
            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 :: ERR279839.2906.1,
                                           SRR3476690.125856.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159080 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324444.9/ ENSP00000316130.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC002116.1         10038-10057         c
            21-820              BC038360.1         1-800
            821-965             BC052573.1         452-596
            966-966             AF038458.1         92419-92419         c
            967-1374            BC052573.1         598-1005
            1375-1377           AA991508.1         19-21               c
FEATURES             Location/Qualifiers
     source          1..1377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1377
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="spectrin repeat containing nuclear envelope family
                     member 4"
                     /db_xref="GeneID:163183"
                     /db_xref="HGNC:HGNC:26703"
                     /db_xref="MIM:615535"
     exon            1..260
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..1347
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nesprin-4; nuclear envelope spectrin repeat protein 4;
                     deafness, autosomal recessive 76; KASH domain-containing
                     protein 4"
                     /codon_start=1
                     /product="nesprin-4 isoform 1"
                     /protein_id="NP_001034965.1"
                     /db_xref="CCDS:CCDS42553.1"
                     /db_xref="GeneID:163183"
                     /db_xref="HGNC:HGNC:26703"
                     /db_xref="MIM:615535"
                     /translation="MALSLPLGPRLGSEPLNHPPGAPREADIVGCTVCPASGEESTSP
                     EQAQTLGQDSLGPPEHFQGGPRGNEPAAHPPRWSTPSSYEDPAGGKHCEHPISGLEVL
                     EAEQNSLHLCLLGLGRRLQDLEQGLGHWALAQSGMVQLQALQVDLRGAAERVEALLAF
                     GEGLAQRSEPRAWAALEQILRALGAYRDSIFRRLWQLQAQLVSYSLVFEEANTLDQDL
                     EVEGDSDWPGPGGVWGPWAPSSLPTSTELEWDPAGDIGGLGPLGQKTARTLGVPCELC
                     GQRGPQGRGQGLEEADTSHSRQDMLESGLGHQKRLARHQRHSLLRKPQDKKRQASPHL
                     QDVRLEGNPGAPDPASRQPLTFLLILFLLFLLLVGAMFLLPASGGPCCSHARIPRTPY
                     LVLSYVNGLPPV"
     exon            261..411
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     exon            412..555
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     exon            556..750
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     exon            751..999
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1104
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1163
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1377
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1355..1360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="hexamer: AATAAA"
     polyA_site      1377
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="major polyA site"
ORIGIN      
        1 agacctgtcc tgggcctctc ctgcagcctc aggcccgggt gactccagcg gaggagctct
       61 gggacaccct tgtctaggga agaggtctta ctggctgccc tcacctgact ttgtgtcccc
      121 aggcccccag ccatggccct gtccctgcct ctgggcccta gacttggctc agagcccctc
      181 aaccacccac cgggagcacc tagagaggcg gacattgttg gatgcaccgt ctgccccgcg
      241 tccggagagg agagcacgag cccagagcag gcccagaccc tgggacagga ctccttgggc
      301 cctcctgagc acttccaggg tgggccaagg ggcaatgagc ctgccgctca ccccccgaga
      361 tggtcaacac cctcttccta cgaggaccca gctgggggca aacactgtga gcaccccatt
      421 tctggcctgg aggtactaga ggctgagcag aacagcctgc acctgtgcct gctggggctg
      481 ggccgccggc tgcaggacct ggagcaaggc ctggggcact gggcattggc ccagagtggg
      541 atggtgcagc tgcaggccct ccaggtggac ctacgagggg cagctgagcg tgtggaggcg
      601 ctgctagcgt ttggtgaggg gctggcacag cggagtgagc ccagggcctg ggcagccctg
      661 gagcagatcc tgcgggccct gggagcttac cgagactcca tcttccggcg gctctggcag
      721 ctgcaggccc agctggtcag ctacagcctg gtgttcgagg aggccaacac gctggaccag
      781 gacttggagg tcgagggaga ctcggactgg ccaggacctg gtggggtctg ggggccctgg
      841 gcacccagta gcctccccac ttccacagag ttggagtggg atccggcggg ggacattggg
      901 ggccttgggc ccttgggaca aaagacagcc cggacactag gagtgccctg tgagctgtgt
      961 ggccagaggg ggccccaggg caggggacaa ggccttgagg aagcagacac ctctcactcc
     1021 cgacaggaca tgctggagtc tggcctcggc caccagaaac gcttagcacg tcaccaaaga
     1081 cactccctgc tccggaagcc tcaggacaag aagaggcaag catctcctca tctccaggat
     1141 gtgaggctgg aggggaatcc aggggccccc gatcctgcat ccaggcagcc tctgaccttc
     1201 ctccttatcc tcttcctcct cttcctcctc ctggtgggtg ccatgtttct cctgcccgcg
     1261 tcaggaggcc cctgctgctc tcatgcccga atacccagga caccctacct ggtgctcagc
     1321 tatgtcaatg gtcttccccc agtctgatgt gtgtaataaa tggtcactgt caaagga
//
