LOCUS       NM_152463               2330 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens essential meiotic structure-specific endonuclease 1
            (EME1), transcript variant 2, mRNA.
ACCESSION   NM_152463
VERSION     NM_152463.4
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 2330)
  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 2330)
  AUTHORS   Calzetta,N.L., Gonzalez Besteiro,M.A. and Gottifredi,V.
  TITLE     Mus81-Eme1-dependent aberrant processing of DNA replication
            intermediates in mitosis impairs genome integrity
  JOURNAL   Sci Adv 6 (50) (2020)
   PUBMED   33298441
  REMARK    GeneRIF: Mus81-Eme1-dependent aberrant processing of DNA
            replication intermediates in mitosis impairs genome integrity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2330)
  AUTHORS   Palma,A., Pugliese,G.M., Murfuni,I., Marabitti,V., Malacaria,E.,
            Rinalducci,S., Minoprio,A., Sanchez,M., Mazzei,F., Zolla,L.,
            Franchitto,A. and Pichierri,P.
  TITLE     Phosphorylation by CK2 regulates MUS81/EME1 in mitosis and after
            replication stress
  JOURNAL   Nucleic Acids Res 46 (10), 5109-5124 (2018)
   PUBMED   29850896
  REMARK    GeneRIF: EME1 is regulated by CK2 in mitosis and after replication
            stress.
REFERENCE   4  (bases 1 to 2330)
  AUTHORS   Saugar,I., Jimenez-Martin,A. and Tercero,J.A.
  TITLE     Subnuclear Relocalization of Structure-Specific Endonucleases in
            Response to DNA Damage
  JOURNAL   Cell Rep 20 (7), 1553-1562 (2017)
   PUBMED   28813668
  REMARK    GeneRIF: The data suggest that subnuclear relocalization is
            relevant for the function of Mus81-Mms4 complex in response to DNA
            damage and, probably, of the endonucleases that colocalize with it.
REFERENCE   5  (bases 1 to 2330)
  AUTHORS   Zhou,X., DeLucia,M. and Ahn,J.
  TITLE     SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein
            by HIV-1 Viral Protein R (Vpr)
  JOURNAL   J Biol Chem 291 (33), 16936-16947 (2016)
   PUBMED   27354282
  REMARK    GeneRIF: SLX4-SLX1 Protein-independent Down-regulation of
            MUS81-EME1 Protein by HIV-1 Viral Protein R (Vpr).
REFERENCE   6  (bases 1 to 2330)
  AUTHORS   Hiyama,T., Katsura,M., Yoshihara,T., Ishida,M., Kinomura,A.,
            Tonda,T., Asahara,T. and Miyagawa,K.
  TITLE     Haploinsufficiency of the Mus81-Eme1 endonuclease activates the
            intra-S-phase and G2/M checkpoints and promotes rereplication in
            human cells
  JOURNAL   Nucleic Acids Res 34 (3), 880-892 (2006)
   PUBMED   16456034
  REMARK    GeneRIF: EME-1 deficiency affects cell cycle progression and
            promotes DNA rereplication.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2330)
  AUTHORS   Blais,V., Gao,H., Elwell,C.A., Boddy,M.N., Gaillard,P.H.L.,
            Russell,P. and McGowan,C.H.
  TITLE     RNA interference inhibition of Mus81 reduces mitotic recombination
            in human cells
  JOURNAL   Mol Biol Cell 15 (2), 552-562 (2004)
   PUBMED   14617801
REFERENCE   8  (bases 1 to 2330)
  AUTHORS   Abraham,J., Lemmers,B., Hande,M.P., Moynahan,M.E., Chahwan,C.,
            Ciccia,A., Essers,J., Hanada,K., Chahwan,R., Khaw,A.K.,
            McPherson,P., Shehabeldin,A., Laister,R., Arrowsmith,C., Kanaar,R.,
            West,S.C., Jasin,M. and Hakem,R.
  TITLE     Eme1 is involved in DNA damage processing and maintenance of
            genomic stability in mammalian cells
  JOURNAL   EMBO J 22 (22), 6137-6147 (2003)
   PUBMED   14609959
REFERENCE   9  (bases 1 to 2330)
  AUTHORS   Ciccia,A., Constantinou,A. and West,S.C.
  TITLE     Identification and characterization of the human mus81-eme1
            endonuclease
  JOURNAL   J Biol Chem 278 (27), 25172-25178 (2003)
   PUBMED   12721304
REFERENCE   10 (bases 1 to 2330)
  AUTHORS   Ogrunc,M. and Sancar,A.
  TITLE     Identification and characterization of human MUS81-MMS4
            structure-specific endonuclease
  JOURNAL   J Biol Chem 278 (24), 21715-21720 (2003)
   PUBMED   12686547
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK055926.1, AC004707.2 and
            BC016470.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_152463.3.
            
            Summary: This gene encodes a protein that complexes with methyl
            methanesulfonate-sensitive UV-sensitive 81 protein to form an
            endonuclease complex. The encoded protein interacts with specifc
            DNA structures including nicked Holliday junctions, 3'-flap
            structures and aberrant replication fork structures. This protein
            may be involved in repairing DNA damage and in maintaining genomic
            stability. Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region, compared to variant 1. This
            results in a shorter protein (isoform 2), compared to 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 :: AK055926.1, SRR14038196.1320584.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338165.9/ ENSP00000339897.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-279               AK055926.1         1-279
            280-280             AC004707.2         66274-66274         c
            281-713             AK055926.1         281-713
            714-714             AC004707.2         65840-65840         c
            715-2304            AK055926.1         715-2304
            2305-2306           BC016470.2         2296-2297
            2307-2330           AC004707.2         60206-60229         c
FEATURES             Location/Qualifiers
     source          1..2330
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..2330
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /note="essential meiotic structure-specific endonuclease
                     1"
                     /db_xref="GeneID:146956"
                     /db_xref="HGNC:HGNC:24965"
                     /db_xref="MIM:610885"
     exon            1..49
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            50..848
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..1786
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /note="isoform 2 is encoded by transcript variant 2;
                     homolog of yeast EME1 endonuclease; SLX2
                     structure-specific endonuclease subunit homolog A;
                     crossover junction endonuclease EME1; hMMS4; MMS4 homolog;
                     essential meiotic endonuclease 1 homolog 2; essential
                     meiotic endonuclease 1 homolog 1"
                     /codon_start=1
                     /product="crossover junction endonuclease EME1 isoform 2"
                     /protein_id="NP_689676.2"
                     /db_xref="CCDS:CCDS11565.1"
                     /db_xref="GeneID:146956"
                     /db_xref="HGNC:HGNC:24965"
                     /db_xref="MIM:610885"
                     /translation="MALKKSSPSLDSGDSDSEELPTFAFLKKEPSSTKRRQPEREEKI
                     VVVDISDCEASCPPAPELFSPPVPEIAETVTQTQPVRLLSSESEDEEEFIPLAQRLTC
                     KFLTHKQLSPEDSSSPVKSVLDHQNNEGASCDWKKPFPKIPEVPLHDTPERSAADNKD
                     LILDPCCQLPAYLSTCPGQSSSLAVTKTNSDILPPQKKTKPSQKVQGRGSHGCRQQRQ
                     ARQKESTLRRQERKNAALVTRMKAQRPEECLKHIIVVLDPVLLQMEGGGQLLGALQTM
                     ECRCVIEAQAVPCSVTWRRRAGPSEDREDWVEEPTVLVLLRAEAFVSMIDNGKQGSLD
                     STMKGKETLQGFVTDITAKTAGKALSLVIVDQEKCFSAQNPPRRGKQGANKQTKKQQQ
                     RQPEASIGSMVSRVDAEEALVDLQLHTEAQAQIVQSWKELADFTCAFTKAVAEAPFKK
                     LRDETTFSFCLESDWAGGVKVDLAGRGLALVWRRQIQQLNRVSLEMASAVVNAYPSPQ
                     LLVQAYQQCFSDKERQNLLADIQVRRGEGVTSTSRRIGPELSRRIYLQMTTLQPHLSL
                     DSAD"
     exon            849..976
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1063
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1185
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1303
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1419
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1609
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1610..2330
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2284..2289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /note="hexamer: AATAAA"
     polyA_site      2306
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /note="major polyA site"
     polyA_site      2330
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /note="major polyA site"
ORIGIN      
        1 acttccgggc cctgcgtggc agttgaaaga gtggcgggag aagttgcagg gaattatttg
       61 atagcacata ctgatggctc taaagaagtc atcaccctca ctggattctg gtgatagtga
      121 ctctgaggag ttgccaacat ttgcctttct gaagaaggaa ccatcttcaa caaagaggag
      181 acagcctgaa agggaagaga agattgtagt ggttgacatc tcagattgtg aagcctcctg
      241 tcctccagca ccagagttat tttcaccacc tgtcccagaa atagctgaaa ctgtcacaca
      301 aacacagcca gtcaggttgc taagcagtga aagtgaagat gaagaagaat ttattcctct
      361 ggctcaaagg cttacatgta agtttctgac ccacaagcaa ctgagccctg aggactctag
      421 ctccccagtt aaaagtgttt tggatcatca aaataatgaa ggtgcatcat gtgactggaa
      481 aaagcccttt ccaaagatcc ctgaagttcc cctccatgat accccagaga ggagtgcagc
      541 agataacaag gacctgatct tagatccatg ctgtcagctt ccagcctacc tgtctacctg
      601 ccctggccag agcagcagct tggcagtaac caaaacaaat tctgacatcc ttccacccca
      661 gaagaaaacc aagccgagtc agaaggtcca gggaagaggc tcacacggat gccggcagca
      721 gagacaagca aggcagaagg aaagcaccct gagaagacag gaaagaaaga atgcagcact
      781 ggttaccagg atgaaagccc agaggccaga ggaatgctta aaacacatca ttgtagtgct
      841 ggatccagtg ctcttacaga tggaaggtgg gggccagctc ctaggagcac tgcagaccat
      901 ggagtgccgc tgtgtgattg aggcgcaggc tgtgccttgc agtgtcactt ggaggagaag
      961 ggctgggccg tctgaggaca gagaggactg ggtggaggag ccaacagtac tggtgttgct
     1021 ccgggcagag gcatttgtgt ccatgatcga caatggaaag cagggaagcc tggacagcac
     1081 tatgaaaggg aaggaaacgc ttcagggctt tgtaactgac atcacagcaa agacagcagg
     1141 gaaagctctg tcactggtga ttgtggatca ggagaaatgc ttcagtgctc agaatcctcc
     1201 aagaagaggg aaacagggag caaataaaca gaccaagaag cagcagcaga gacaaccaga
     1261 ggccagcata gggtccatgg tatccagggt agacgctgaa gaggcattgg tggatctgca
     1321 gctacacaca gaagcccagg ctcaaattgt gcagagctgg aaagagctgg ccgacttcac
     1381 atgcgcattc acaaaggctg tggctgaggc gcccttcaag aagctccgag atgaaactac
     1441 cttctccttc tgtctggaga gtgactgggc tggaggggtg aaggtggacc ttgctggcag
     1501 gggactcgca ctagtctgga ggagacagat tcagcagctg aaccgagtca gcctggaaat
     1561 ggccagtgca gttgtgaatg cctatccctc cccacagctc ctggtacagg cttatcagca
     1621 gtgtttttcg gataaagaac gccagaattt gctcgcagac atacaggtgc gccgtgggga
     1681 aggtgtgaca tccacttctc gccgcattgg accagaacta tccaggcgta tctaccttca
     1741 gatgaccact ttacagccac atctctcttt agatagtgct gactgattct agccctcagg
     1801 gatgaggatg aaaagctgga aacttccact tccccaacct cagagcctga ctgtaatgaa
     1861 gagactggca gcacctcctg gaacacaagc ctaggtgagg cccagtcttt cttgggtctt
     1921 attatttgtg aaggtctctc tgcctgtcgg ctggggcaga gactgaaata ctgccaccta
     1981 cctttggcat ttaatgttcc tctcctggca aaaattcact gccacagaca aaccaccccc
     2041 actcctaccc agccagccct caaaacacaa aggaacaaag acagtccact cagacactta
     2101 tttaataact gtagaaatcc aaaagaatta gcatcaaatc ttgaagtcgt gagtgaagct
     2161 gcgggttggc ttgactgggc tcagccactg agctgcctca accggccaag gaacgggatt
     2221 atgatgacta tgcggacttc tatattgtct tcatctcatt gtgtgtatta tgtatttagt
     2281 ttcaataaag catttgtacc aatggctctg gagcttggag gaagactaaa
//
