LOCUS       NM_145080               1042 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens NSE1 homolog, SMC5-SMC6 complex component (NSMCE1),
            mRNA.
ACCESSION   NM_145080
VERSION     NM_145080.4
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 1042)
  AUTHORS   Lorite,N.P., Apostolova,S., Guasch-Valles,M., Pryer,A., Unzueta,F.,
            Freire,R., Sole-Soler,R., Pedraza,N., Dolcet,X., Gari,E., Agell,N.,
            Taylor,E.M., Colomina,N. and Torres-Rosell,J.
  TITLE     Crucial role of the NSE1 RING domain in Smc5/6 stability and
            FANCM-independent fork progression
  JOURNAL   Cell Mol Life Sci 81 (1), 251 (2024)
   PUBMED   38847937
  REMARK    GeneRIF: Crucial role of the NSE1 RING domain in Smc5/6 stability
            and FANCM-independent fork progression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1042)
  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 1042)
  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
  REMARK    GeneRIF: Molecular Insights into the Architecture of the Human
            SMC5/6 Complex.
REFERENCE   4  (bases 1 to 1042)
  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 1042)
  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 1042)
  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   7  (bases 1 to 1042)
  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   8  (bases 1 to 1042)
  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   9  (bases 1 to 1042)
  AUTHORS   Harvey,S.H., Sheedy,D.M., Cuddihy,A.R. and O'Connell,M.J.
  TITLE     Coordination of DNA damage responses via the Smc5/Smc6 complex
  JOURNAL   Mol Cell Biol 24 (2), 662-674 (2004)
   PUBMED   14701739
REFERENCE   10 (bases 1 to 1042)
  AUTHORS   Fujioka,Y., Kimata,Y., Nomaguchi,K., Watanabe,K. and Kohno,K.
  TITLE     Identification of a novel non-structural maintenance of chromosomes
            (SMC) component of the SMC5-SMC6 complex involved in DNA repair
  JOURNAL   J Biol Chem 277 (24), 21585-21591 (2002)
   PUBMED   11927594
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB463393.1 and BU685363.1.
            
            On Nov 23, 2018 this sequence version replaced NM_145080.3.
            
            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 :: BQ277346.1, SRR14038194.2896771.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361439.9/ ENSP00000355077.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-414               DB463393.1         21-434
            415-1042            BU685363.1         18-645              c
FEATURES             Location/Qualifiers
     source          1..1042
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..1042
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /note="NSE1 homolog, SMC5-SMC6 complex component"
                     /db_xref="GeneID:197370"
                     /db_xref="HGNC:HGNC:29897"
                     /db_xref="MIM:617263"
     exon            1..67
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     exon            68..214
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..879
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /EC_number="2.3.2.27"
                     /note="non-SMC element 1 homolog"
                     /codon_start=1
                     /product="non-structural maintenance of chromosomes
                     element 1 homolog"
                     /protein_id="NP_659547.2"
                     /db_xref="CCDS:CCDS10628.2"
                     /db_xref="GeneID:197370"
                     /db_xref="HGNC:HGNC:29897"
                     /db_xref="MIM:617263"
                     /translation="MQGSTRRMGVMTDVHRRFLQLLMTHGVLEEWDVKRLQTHCYKVH
                     DRNATVDKLEDFINNINSVLESLYIEIKRGVTEDDGRPIYALVNLATTSISKMATDFA
                     ENELDLFRKALELIIDSETGFASSTNILNLVDQLKGKKMRKKEAEQVLQKFVQNKWLI
                     EKEGEFTLHGRAILEMEQYIRETYPDAVKICNICHSLLIQGQSCETCGIRMHLPCVAK
                     YFQSNAEPRCPHCNDYWPHEIPKVFDPEKERESGVLKSNKKSLRSRQH"
     exon            215..336
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     exon            337..414
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     exon            415..561
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     exon            562..678
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     exon            679..799
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     exon            800..1042
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1016..1021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /note="hexamer: AATAAA"
     polyA_site      1042
                     /gene="NSMCE1"
                     /gene_synonym="NSE1"
                     /note="major polyA site"
ORIGIN      
        1 aaaggaagaa gagtccacct tgcgaccgta tccgctagcg cggcctggga tgcgcttggg
       61 ctccctgttc gttcccacat gcagggcagc acaaggagaa tgggcgtcat gactgatgtc
      121 caccggcgct tcctccagtt gctgatgacc catggcgtgc tagaggaatg ggacgtgaag
      181 cgcttgcaga cgcactgcta caaggtccat gaccgcaatg ccaccgtaga taagttggag
      241 gacttcatca acaacattaa cagtgtcttg gagtccttgt atattgagat aaagagagga
      301 gtcacggaag atgatgggag acccatttat gcgttggtga atcttgctac aacttcaatt
      361 tccaaaatgg ctacggattt tgcagagaat gaactggatt tgtttagaaa ggctctggaa
      421 ctgattattg actcagaaac cggctttgcg tcttccacaa acatattgaa cctggttgat
      481 caacttaaag gcaagaagat gaggaagaag gaagcggagc aggtgctgca gaagtttgtt
      541 caaaacaagt ggctgattga gaaggaaggg gagttcaccc tgcacggccg ggccatcctg
      601 gagatggagc aatacatccg ggagacgtac cccgacgcgg tgaagatctg caatatctgt
      661 cacagcctcc tcatccaggg tcaaagctgc gaaacctgtg ggatcaggat gcacttaccc
      721 tgcgtggcca agtacttcca gtcgaatgct gaaccgcgct gcccccactg caacgactac
      781 tggccccacg agatcccaaa agtcttcgac cctgagaagg agagggagtc tggtgtcttg
      841 aaatcgaaca aaaagtccct gcggtccagg cagcattagc catcgtgccc tgctgagggg
      901 ctggctgcct tgagtggcct gatcgccaca gcccttcttg gaagaaaggc gtccgtgttt
      961 caggttccac gcgagtcacc tctttcgtct taatgttcac cgtccacagc tttggaataa
     1021 accatcctgg gaagttgctg ca
//
