LOCUS       NM_017615               1391 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NSE4 homolog A, SMC5-SMC6 complex component (NSMCE4A),
            transcript variant 1, mRNA.
ACCESSION   NM_017615
VERSION     NM_017615.3
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 1391)
  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 1391)
  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   3  (bases 1 to 1391)
  AUTHORS   Adamus,M., Lelkes,E., Potesil,D., Ganji,S.R., Kolesar,P.,
            Zabrady,K., Zdrahal,Z. and Palecek,J.J.
  TITLE     Molecular Insights into the Architecture of the Human SMC5/6
            Complex
  JOURNAL   J Mol Biol 432 (13), 3820-3837 (2020)
   PUBMED   32389690
REFERENCE   4  (bases 1 to 1391)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 1391)
  AUTHORS   van der Crabben,S.N., Hennus,M.P., McGregor,G.A., Ritter,D.I.,
            Nagamani,S.C., Wells,O.S., Harakalova,M., Chinn,I.K., Alt,A.,
            Vondrova,L., Hochstenbach,R., van Montfrans,J.M.,
            Terheggen-Lagro,S.W., van Lieshout,S., van Roosmalen,M.J.,
            Renkens,I., Duran,K., Nijman,I.J., Kloosterman,W.P., Hennekam,E.,
            Orange,J.S., van Hasselt,P.M., Wheeler,D.A., Palecek,J.J.,
            Lehmann,A.R., Oliver,A.W., Pearl,L.H., Plon,S.E., Murray,J.M. and
            van Haaften,G.
  TITLE     Destabilized SMC5/6 complex leads to chromosome breakage syndrome
            with severe lung disease
  JOURNAL   J Clin Invest 126 (8), 2881-2892 (2016)
   PUBMED   27427983
REFERENCE   6  (bases 1 to 1391)
  AUTHORS   Doyle,J.M., Gao,J., Wang,J., Yang,M. and Potts,P.R.
  TITLE     MAGE-RING protein complexes comprise a family of E3 ubiquitin
            ligases
  JOURNAL   Mol Cell 39 (6), 963-974 (2010)
   PUBMED   20864041
REFERENCE   7  (bases 1 to 1391)
  AUTHORS   Taylor,E.M., Copsey,A.C., Hudson,J.J., Vidot,S. and Lehmann,A.R.
  TITLE     Identification of the proteins, including MAGEG1, that make up the
            human SMC5-6 protein complex
  JOURNAL   Mol Cell Biol 28 (4), 1197-1206 (2008)
   PUBMED   18086888
REFERENCE   8  (bases 1 to 1391)
  AUTHORS   Potts,P.R. and Yu,H.
  TITLE     The SMC5/6 complex maintains telomere length in ALT cancer cells
            through SUMOylation of telomere-binding proteins
  JOURNAL   Nat Struct Mol Biol 14 (7), 581-590 (2007)
   PUBMED   17589526
REFERENCE   9  (bases 1 to 1391)
  AUTHORS   Potts,P.R., Porteus,M.H. and Yu,H.
  TITLE     Human SMC5/6 complex promotes sister chromatid homologous
            recombination by recruiting the SMC1/3 cohesin complex to
            double-strand breaks
  JOURNAL   EMBO J 25 (14), 3377-3388 (2006)
   PUBMED   16810316
REFERENCE   10 (bases 1 to 1391)
  AUTHORS   Hu,B., Liao,C., Millson,S.H., Mollapour,M., Prodromou,C.,
            Pearl,L.H., Piper,P.W. and Panaretou,B.
  TITLE     Qri2/Nse4, a component of the essential Smc5/6 DNA repair complex
  JOURNAL   Mol Microbiol 55 (6), 1735-1750 (2005)
   PUBMED   15752197
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA567626.1, AK000010.1 and AL731566.7.
            
            On Nov 23, 2018 this sequence version replaced NM_017615.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK000010.1, AK222487.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369023.8/ ENSP00000358019.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DA567626.1         12-33
            23-485              AK000010.1         1-463
            486-486             AL731566.7         79963-79963         c
            487-1266            AK000010.1         465-1244
            1267-1267           AL731566.7         66172-66172         c
            1268-1391           AK000010.1         1246-1369
FEATURES             Location/Qualifiers
     source          1..1391
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..1391
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /note="NSE4 homolog A, SMC5-SMC6 complex component"
                     /db_xref="GeneID:54780"
                     /db_xref="HGNC:HGNC:25935"
                     /db_xref="MIM:612987"
     exon            1..344
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1210
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     non-structural maintenance of chromosomes element 4
                     homolog A; non-SMC element 4 homolog A; NSE4 homolog,
                     SMC5-SMC6 complex component A"
                     /codon_start=1
                     /product="non-structural maintenance of chromosomes
                     element 4 homolog A isoform 1"
                     /protein_id="NP_060085.2"
                     /db_xref="CCDS:CCDS7624.1"
                     /db_xref="GeneID:54780"
                     /db_xref="HGNC:HGNC:25935"
                     /db_xref="MIM:612987"
                     /translation="MSGDSSGRGPEGRGRGRDPHRDRTRSRSRSRSPLSPRSRRGSAR
                     ERREAPERPSLEDTEPSDSGDEMMDPASLEAEADQGLCRQIRHQYRALINSVQQNRED
                     ILNAGDKLTEVLEEANTLFNEVSRAREAVLDAHFLVLASDLGKEKAKQLRSDLSSFDM
                     LRYVETLLTHMGVNPLEAEELIRDEDSPDFEFIVYDSWKITGRTAENTFNKTHTFHFL
                     LGSIYGECPVPKPRVDRPRKVPVIQEERAMPAQLRRMEESHQEATEKEVERILGLLQT
                     YFREDPDTPMSFFDFVVDPHSFPRTVENIFHVSFIIRDGFARIRLDQDRLPVIEPVSI
                     NEENEGFEHNTQVRNQGIIALSYRDWEEIVKTFEISEPVITPSQRQQKPSA"
     exon            345..422
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            423..553
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            554..705
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            706..805
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            806..896
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            897..991
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1040
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1135
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1222
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1391
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1361..1366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /note="hexamer: ATTAAA"
     polyA_site      1391
                     /gene="NSMCE4A"
                     /gene_synonym="C10orf86; NS4EA; NSE4A"
                     /note="major polyA site"
ORIGIN      
        1 agtttctggc gcgaacttcc gccgttccga agttgcacgg tgaattggcg ctatgtctgg
       61 ggacagcagc ggccgcgggc cagagggccg gggccggggc cgcgacccgc atcgggatcg
      121 cacccgctcc cgctcccgct cgcggtcccc tttgtcgccc aggtcccgcc gcggctctgc
      181 gcgggagcgc agagaggccc cagagcgccc gagcctggag gacacagagc cgtcggattc
      241 cggggacgag atgatggacc cggccagctt ggaggcggag gccgaccaag gcctgtgccg
      301 ccagatccgc catcagtacc gggcgctcat caactccgtc caacaaaacc gtgaggacat
      361 actgaatgcc ggtgacaaat taacagaggt ccttgaagag gctaacactc tgtttaatga
      421 agtgtcccga gcaagagaag cagtcctgga tgcccacttt cttgttttgg cttcagattt
      481 gggcaaagag aaagcaaagc agctgcgctc agacctgagc tcctttgaca tgttaagata
      541 tgttgaaact ctactcacac atatgggtgt aaatccgcta gaagctgaag aactcatccg
      601 tgatgaagat agtcctgatt ttgaattcat agtctatgac tcctggaaga taacaggcag
      661 aacagcagaa aacaccttta ataaaaccca tacattccac tttctgttgg gttcaatata
      721 cggagagtgc cctgtgccaa agccacgagt tgatcgtcca agaaaagttc ctgtgataca
      781 agaggagagg gcaatgcctg cccagttaag aagaatggaa gaatctcatc aagaagcaac
      841 agagaaagaa gtagaaagaa tcttgggatt gttgcagaca tattttcgag aagatcctga
      901 taccccaatg tccttctttg actttgtggt tgatcctcat tctttccccc gtacagtgga
      961 aaacatcttt catgtttcct tcattatacg ggatggtttt gcaagaataa gacttgacca
     1021 agaccgactg ccagtaatag agcctgttag tattaatgaa gaaaatgagg gatttgaaca
     1081 taacacacaa gttagaaatc aaggaattat agctttgagt taccgtgact gggaggagat
     1141 tgtgaagacc tttgagattt cagagcctgt gattactcca agtcagaggc agcagaagcc
     1201 aagtgcttga tgctagctga aggactcaaa tggatagtga agtccaaaac ggaaagcggc
     1261 atgtatcgta catattgtat gattcaacat ttttaaaggc agattgtttt tagtaaaatg
     1321 tagcttttga tagttaataa atttgtcatg gttgtctttg attaaaggaa actcaccgcc
     1381 atattcacaa a
//
