LOCUS       NM_025128               2364 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens MUS81 structure-specific endonuclease subunit (MUS81),
            transcript variant 2, mRNA.
ACCESSION   NM_025128
VERSION     NM_025128.5
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 2364)
  AUTHORS   Dvorak,O., Slavickova,M., Laco,J., Stepan,M., Cermakova,E. and
            Spacek,J.
  TITLE     DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81
            and NTRK1 in endometrial hyperplasia
  JOURNAL   Ceska Gynekol 89 (4), 261-268 (2024)
   PUBMED   39242200
  REMARK    GeneRIF: DNA hypermethylation of tumor suppressor genes TWIST1,
            GATA4, MUS81 and NTRK1 in endometrial hyperplasia.
REFERENCE   2  (bases 1 to 2364)
  AUTHORS   Wu,S., Tang,J. and Wang,L.
  TITLE     A study of protective effects of Mus81 in preeclampsia
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (10), 248-253 (2023)
   PUBMED   37953555
  REMARK    GeneRIF: A study of protective effects of Mus81 in preeclampsia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2364)
  AUTHORS   Dehe,P.M. and Gaillard,P.H.L.
  TITLE     Control of structure-specific endonucleases to maintain genome
            stability
  JOURNAL   Nat Rev Mol Cell Biol 18 (5), 315-330 (2017)
   PUBMED   28327556
  REMARK    Review article
REFERENCE   4  (bases 1 to 2364)
  AUTHORS   Blanco,M.G. and Matos,J.
  TITLE     Hold your horSSEs: controlling structure-selective endonucleases
            MUS81 and Yen1/GEN1
  JOURNAL   Front Genet 6, 253 (2015)
   PUBMED   26284109
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2364)
  AUTHORS   West,S.C., Blanco,M.G., Chan,Y.W., Matos,J., Sarbajna,S. and
            Wyatt,H.D.
  TITLE     Resolution of Recombination Intermediates: Mechanisms and
            Regulation
  JOURNAL   Cold Spring Harb Symp Quant Biol 80, 103-109 (2015)
   PUBMED   26370409
  REMARK    Review article
REFERENCE   6  (bases 1 to 2364)
  AUTHORS   Wyatt,H.D. and West,S.C.
  TITLE     Holliday junction resolvases
  JOURNAL   Cold Spring Harb Perspect Biol 6 (9), a023192 (2014)
   PUBMED   25183833
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2364)
  AUTHORS   Sarbajna,S. and West,S.C.
  TITLE     Holliday junction processing enzymes as guardians of genome
            stability
  JOURNAL   Trends Biochem Sci 39 (9), 409-419 (2014)
   PUBMED   25131815
  REMARK    Review article
REFERENCE   8  (bases 1 to 2364)
  AUTHORS   Constantinou,A., Chen,X.B., McGowan,C.H. and West,S.C.
  TITLE     Holliday junction resolution in human cells: two junction
            endonucleases with distinct substrate specificities
  JOURNAL   EMBO J 21 (20), 5577-5585 (2002)
   PUBMED   12374758
  REMARK    GeneRIF: Mus81-associated endonuclease may play a more direct role
            in replication fork collapse by catalysing the cleavage of stalled
            fork structures.
REFERENCE   9  (bases 1 to 2364)
  AUTHORS   Chen,X.B., Melchionna,R., Denis,C.M., Gaillard,P.H.L., Blasina,A.,
            Van de Weyer,I., Boddy,M.N., Russell,P., Vialard,J. and
            McGowan,C.H.
  TITLE     Human Mus81-associated endonuclease cleaves Holliday junctions in
            vitro
  JOURNAL   Mol Cell 8 (5), 1117-1127 (2001)
   PUBMED   11741546
REFERENCE   10 (bases 1 to 2364)
  AUTHORS   Boddy,M.N., Lopez-Girona,A., Shanahan,P., Interthal,H., Heyer,W.D.
            and Russell,P.
  TITLE     Damage tolerance protein Mus81 associates with the FHA1 domain of
            checkpoint kinase Cds1
  JOURNAL   Mol Cell Biol 20 (23), 8758-8766 (2000)
   PUBMED   11073977
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA449863.1, AK223564.1,
            BC009999.2 and BI816797.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025128.4.
            
            Summary: This gene encodes a structure-specific endonuclease which
            belongs to the XPF/MUS81 endonuclease family and plays a critical
            role in the resolution of recombination intermediates during DNA
            repair after inter-strand cross-links, replication fork collapse,
            and DNA double-strand breaks. The encoded protein associates with
            one of two closely related essential meiotic endonuclease proteins
            (EME1 or EME2) to form a complex that processes DNA secondary
            structures. It contains an N-terminal DEAH helicase domain, an
            excision repair cross complementation group 4 (ERCC4) endonuclease
            domain, and two tandem C-terminal helix-hairpin-helix domains. Mice
            with a homozygous knockout of the orthologous gene have significant
            meiotic defects including the failure to repair a subset of DNA
            double strand breaks. [provided by RefSeq, Jun 2017].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region, compared to variant 1. The
            encoded isoform (2) is shorter than 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 :: SRR1803613.119500.1,
                                           SRR1660809.200396.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308110.9/ ENSP00000307853.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DA449863.1         33-41
            10-1093             AK223564.1         1-1084
            1094-1256           BC009999.2         1049-1211
            1257-2043           AK223564.1         1245-2031
            2044-2360           BC009999.2         1999-2315
            2361-2364           BI816797.1         662-665
FEATURES             Location/Qualifiers
     source          1..2364
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2364
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /note="MUS81 structure-specific endonuclease subunit"
                     /db_xref="GeneID:80198"
                     /db_xref="HGNC:HGNC:29814"
                     /db_xref="MIM:606591"
     exon            1..456
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     CDS             322..1977
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /EC_number="3.1.22.-"
                     /note="isoform 2 is encoded by transcript variant 2; SLX3
                     structure-specific endonuclease subunit homolog; crossover
                     junction endonuclease MUS81; MUS81 endonuclease homolog"
                     /codon_start=1
                     /product="crossover junction endonuclease MUS81 isoform 2"
                     /protein_id="NP_079404.3"
                     /db_xref="CCDS:CCDS8115.1"
                     /db_xref="GeneID:80198"
                     /db_xref="HGNC:HGNC:29814"
                     /db_xref="MIM:606591"
                     /translation="MAAPVRLGRKRPLPACPNPLFVRWLTEWRDEATRSRRRTRFVFQ
                     KALRSLRRYPLPLRSGKEAKILQHFGDGLCRMLDERLQRHRTSGGDHAPDSPSGENSP
                     APQGRLAEVQDSSMPVPAQPKAGGSGSYWPARHSGARVILLVLYREHLNPNGHHFLTK
                     EELLQRCAQKSPRVAPGSARPWPALRSLLHRNLVLRTHQPARYSLTPEGLELAQKLAE
                     SEGLSLLNVGIGPKEPPGEETAVPGAASAELASEAGVQQQPLELRPGEYRVLLCVDIG
                     ETRGGGHRPELLRELQRLHVTHTVRKLHVGDFVWVAQETNPRDPANPGELVLDHIVER
                     KRLDDLCSSIIDGRFREQKFRLKRCGLERRVYLVEEHGSVHNLSLPESTLLQAVTNTQ
                     VIDGFFVKRTADIKESAAYLALLTRGLQRLYQGHTLRSRPWGTPGNPESGAMTSPNPL
                     CSLLTFSDFNAGAIKNKAQSVREVFARQLMQVRGVSGEKAAALVDRYSTPASLLAAYD
                     ACATPKEQETLLSTIKCGRLQRNLGPALSRTLSQLYCSYGPLT"
     exon            457..586
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            587..672
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            673..771
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            772..840
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            841..926
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1067
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1160
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1282
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1380
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1497
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1498..1593
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1722
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1723..1826
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1827..1910
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1911..2364
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2331..2336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /note="hexamer: AATAAA"
     polyA_site      2364
                     /gene="MUS81"
                     /gene_synonym="SLX3"
                     /note="major polyA site"
ORIGIN      
        1 gacaggaagg agccggtcca ggctccgggg gctgggaaag ggcgcgtctc aaaggctggc
       61 tggagtggag ccaagggaaa agatcgttag agacagcgcc cctgaccaac cacttagagc
      121 agcgcagggg tgggagggcg gccgcaggct ctcctctcgt tagtgccccc tgtgtttggg
      181 gccccgtgat ctcaacggtc ctgccctcgg tctccctctt cccccgcccc gccctgggcc
      241 aggtgttcga atcccgactc cagaactggc ggcgtcccag tcccgcgggc gtggagcgcc
      301 ggaggacccg ccctcgggct catggcggcc ccggtccgcc tgggccggaa gcgcccgctg
      361 cctgcctgtc ccaacccgct cttcgttcgc tggctgaccg agtggcggga cgaggcgacc
      421 cgcagcaggc gccgcacgcg cttcgtattt cagaaggcgc tgcgttccct ccgacggtac
      481 ccactgccgc tgcgcagcgg gaaggaagct aagatcctac agcacttcgg agacgggctc
      541 tgccggatgc tggacgagcg gctgcagcgg caccgaacat cgggcggtga ccatgccccg
      601 gactcaccat ctggagagaa cagtccagcc ccgcaggggc gacttgcgga agtccaggac
      661 tcttccatgc cagttcctgc ccagcccaaa gcgggaggct ctggcagcta ctggccagct
      721 cggcactcag gagcccgagt gatactgctg gtgctctacc gggagcacct gaatcctaat
      781 ggtcaccact tcttaaccaa ggaggagctg ctgcagaggt gtgctcagaa gtcccccagg
      841 gtagcccctg ggagtgctcg accctggcca gccctccgct ccctccttca caggaacctg
      901 gtcctcagga cacaccagcc agccaggtac tcattgaccc cagagggcct ggagctggcc
      961 cagaagttgg ccgagtcaga aggcctgagc ttgctgaatg tgggcatcgg gcccaaggag
     1021 ccccctgggg aggagacagc agtgccagga gcagcttcag cagagcttgc cagtgaagca
     1081 ggggtccagc agcagccact ggagctgagg cctggagagt acagggtgct gttgtgtgtg
     1141 gacattggcg agacccgggg gggcgggcac aggccggagc tgctccgaga gctacagcgg
     1201 ctgcacgtga cccacacggt gcgcaagctg cacgttggag attttgtgtg ggtggcccag
     1261 gagaccaatc ctagagaccc agcaaaccct ggggagttgg tactggatca cattgtggag
     1321 cgcaagcgac tggatgacct ttgcagcagc atcatcgacg gccgcttccg ggagcagaag
     1381 ttccggctga agcgctgtgg tctggagcgc cgggtatacc tggtggaaga gcatggttcc
     1441 gtccacaacc tcagccttcc tgagagcaca ctgctgcagg ctgtcaccaa cactcaggtc
     1501 attgatggct tttttgtgaa gcgcacagca gacattaagg agtcagccgc ctacctggcc
     1561 ctcttgacgc ggggcctgca gagactctac cagggccaca ccctacgcag ccgcccctgg
     1621 ggaacccctg ggaaccctga atcaggggcc atgacctctc caaaccctct ctgctcactc
     1681 ctcaccttca gtgacttcaa cgcaggagcc atcaagaata aggcccagtc ggtgcgagaa
     1741 gtgtttgccc ggcagctgat gcaggtgcgc ggagtgagtg gggagaaggc agcagccctg
     1801 gtggatcgat acagcacccc tgccagcctc ctggccgcct atgatgcctg tgccaccccc
     1861 aaggaacaag agacactgct gagcaccatt aagtgtgggc gtctacagag gaatctgggg
     1921 cctgctctga gcaggacctt atcccagctc tactgcagct acggcccctt gacctgagct
     1981 tatgccgtga aacagccccc agcccccgtc tgtcccccaa cccaggctag ccagcctttt
     2041 aacaacatct tttggggtac aattagaatc taagtgtttg cagccatatg tgtcatgtag
     2101 aagatgccta gccctgggga ccttgtgaaa tacgcaggaa ccagggatac catctggtcc
     2161 agtggttttt aaacaaagct gcttagcacc tggaattccc tggtcaggga gatggagtca
     2221 gtggggcatt gcagcttgga atctatttta tgtcaccagt tggtcctcat caaataaaat
     2281 ttccttagga gtgcagaggg ctcattggga aaataaaaat aataaaaata aataaaactt
     2341 cctaaaagaa aagattgaaa acca
//
