LOCUS       NM_173685               1188 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
            (NSMCE2), transcript variant 1, mRNA.
ACCESSION   NM_173685
VERSION     NM_173685.4
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 1188)
  AUTHORS   Di Benedetto,C., Oh,J., Choudhery,Z., Shi,W., Valdes,G. and
            Betancur,P.
  TITLE     NSMCE2, a novel super-enhancer-regulated gene, is linked to poor
            prognosis and therapy resistance in breast cancer
  JOURNAL   BMC Cancer 22 (1), 1056 (2022)
   PUBMED   36224576
  REMARK    GeneRIF: NSMCE2, a novel super-enhancer-regulated gene, is linked
            to poor prognosis and therapy resistance in breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1188)
  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 1188)
  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   4  (bases 1 to 1188)
  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   5  (bases 1 to 1188)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1188)
  AUTHORS   Potts,P.R.
  TITLE     The Yin and Yang of the MMS21-SMC5/6 SUMO ligase complex in
            homologous recombination
  JOURNAL   DNA Repair (Amst) 8 (4), 499-506 (2009)
   PUBMED   19217832
  REMARK    Review article
REFERENCE   7  (bases 1 to 1188)
  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 1188)
  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 1188)
  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 1188)
  AUTHORS   Potts,P.R. and Yu,H.
  TITLE     Human MMS21/NSE2 is a SUMO ligase required for DNA repair
  JOURNAL   Mol Cell Biol 25 (16), 7021-7032 (2005)
   PUBMED   16055714
  REMARK    GeneRIF: the human SMC5/6 complex and the SUMO ligase activity of
            hMMS21 are required for the prevention of DNA damage-induced
            apoptosis by facilitating DNA repair in human cells
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB217595.1 and BC032797.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_173685.3.
            
            Summary: This gene encodes a member of a family of E3 small
            ubiquitin-related modifier (SUMO) ligases that mediates the
            attachment of a SUMO protein to proteins involved in nuclear
            transport, transcription, chromosome segregation and DNA repair.
            The encoded protein is part of the structural maintenance of
            chromosomes (SMC) 5/6 complex which plays a key role genome
            maintenance, facilitating chromosome segregation and suppressing
            mitotic recombination. A knockout of the orthologous mouse gene is
            lethal prior to embryonic day 10.5. Naturally occurring mutations
            in this gene, that abolish the SUMO ligase activity, are associated
            with primordial dwarfism and extreme insulin resistance. [provided
            by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1-3 encode the same 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 :: BC032797.1, SRR1803616.418268.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287437.8/ ENSP00000287437.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                CB217595.1         21-57
            38-1188             BC032797.1         56-1206
FEATURES             Location/Qualifiers
     source          1..1188
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     gene            1..1188
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /note="NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO
                     ligase"
                     /db_xref="GeneID:286053"
                     /db_xref="HGNC:HGNC:26513"
                     /db_xref="MIM:617246"
     exon            1..99
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     exon            100..195
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     exon            196..366
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     CDS             210..953
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /note="isoform 1 is encoded by transcript variant 1; E3
                     SUMO-protein ligase NSE2; methyl methanesulfonate
                     sensitivity gene 21; non-structural maintenance of
                     chromosomes element 2 homolog; zinc finger, MIZ-type
                     containing 7; non-SMC element 2, MMS21 homolog;
                     NSMCE2/PVT1 fusion; PVT1/NSMCE2 fusion; E3 SUMO-protein
                     transferase NSE2"
                     /codon_start=1
                     /product="E3 SUMO-protein ligase NSE2 isoform 1"
                     /protein_id="NP_775956.1"
                     /db_xref="CCDS:CCDS6356.1"
                     /db_xref="GeneID:286053"
                     /db_xref="HGNC:HGNC:26513"
                     /db_xref="MIM:617246"
                     /translation="MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSV
                     ALDLVESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKL
                     LVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQCGLQADREADGTEGVDEDIIV
                     TQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRMIESRQKRKKKAYCPQIGCSHT
                     DIRKSDLIQDEALRRAIENHNKKRHRHSE"
     exon            367..473
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     exon            474..627
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     exon            628..728
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     exon            729..835
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     exon            836..1188
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1167..1172
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /note="hexamer: AATAAA"
     polyA_site      1188
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /note="major polyA site"
ORIGIN      
        1 ctcacttttc agcggcaggc gaagggggct gaggaaagga ggtgggtcta ggcaggggaa
       61 attggggtgc caccagacgg agacagcttg gactaccaga atcaagcact cttttggaag
      121 agggtaatct ctctccaaaa actgaggaca cttaccttcc ccatatattg agtccagctg
      181 tgtttggtgg cccaggtact aatttcaaga tgccaggacg ttccagttca aattcaggtt
      241 caactggttt catctccttc agtggtgtag agtctgctct ctcctccttg aaaaacttcc
      301 aagcctgtat caactctggt atggacacag cttctagtgt tgctttggat cttgtggaaa
      361 gtcagactga agtgagtagt gaatatagta tggacaaggc aatggttgaa tttgctacat
      421 tggatcggca actaaaccat tatgtaaagg ctgttcaatc tacaataaat catgtgaaag
      481 aagaacgtcc agaaaaaata ccagatttaa aattattggt agagaagaaa tttttggctt
      541 tacagagcaa gaattctgat gcagactttc aaaataatga aaaatttgta cagtttaaac
      601 aacagctgaa agaactaaag aagcaatgtg gtcttcaagc tgacagagaa gctgacggaa
      661 cagaaggagt ggatgaagat ataattgtga cccaaagtca gaccaacttc acctgcccca
      721 ttacaaagga ggaaatgaag aagccagtga aaaataaagt gtgtggccac acctatgaag
      781 aggacgccat tgttcgcatg attgagtcca ggcaaaagcg gaagaaaaag gcctattgcc
      841 ctcaaattgg ctgtagccac acggatataa gaaagtcaga tcttatccag gatgaagcac
      901 ttagaagggc aattgagaac cataacaaga aaagacatcg tcattccgag taggaaaagc
      961 cacctgcctg cagggacacc agcagcctac ctcctacccc agctgtctgt tgagagcagt
     1021 gctgacccca gcagttaggg actggctgca tagcatactt gttgggggta aaacttgttg
     1081 cttttatgtg tgcttgaaaa catttttcaa agttacacaa cagaaatgca atcatattgt
     1141 ttatttttaa gtgttctata atgttaaata aaactttgat catctgca
//
