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2024-03-29 21:19:12, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_152463               2332 bp    mRNA    linear   PRI 05-JUL-2013
DEFINITION  Homo sapiens essential meiotic structure-specific endonuclease 1
            (EME1), transcript variant 2, mRNA.
ACCESSION   NM_152463
VERSION     NM_152463.2  GI:260764006
KEYWORDS    RefSeq.
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 2332)
  AUTHORS   Dominguez-Kelly,R., Martin,Y., Koundrioukoff,S., Tanenbaum,M.E.,
            Smits,V.A., Medema,R.H., Debatisse,M. and Freire,R.
  TITLE     Wee1 controls genomic stability during replication by regulating
            the Mus81-Eme1 endonuclease
  JOURNAL   J. Cell Biol. 194 (4), 567-579 (2011)
   PUBMED   21859861
  REMARK    GeneRIF: Results demonstrate a novel role of Wee1 in controlling
            Mus81-Eme1 and DNA replication in human cells.
REFERENCE   2  (bases 1 to 2332)
  AUTHORS   Forment,J.V., Blasius,M., Guerini,I. and Jackson,S.P.
  TITLE     Structure-specific DNA endonuclease Mus81/Eme1 generates DNA damage
            caused by Chk1 inactivation
  JOURNAL   PLoS ONE 6 (8), E23517 (2011)
   PUBMED   21858151
  REMARK    GeneRIF: Data show that Mus81/Eme1-dependent DNA damage--rather
            than a global increase in replication-fork stalling--is the cause
            of incomplete replication in Chk1-deficient cells.
REFERENCE   3  (bases 1 to 2332)
  AUTHORS   Liu,Y., Shete,S., Wang,L.E., El-Zein,R., Etzel,C.J., Liang,F.W.,
            Armstrong,G., Tsavachidis,S., Gilbert,M.R., Aldape,K.D., Xing,J.,
            Wu,X., Wei,Q. and Bondy,M.L.
  TITLE     Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate
            glioma risk
  JOURNAL   Carcinogenesis 31 (10), 1762-1769 (2010)
   PUBMED   20610542
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   4  (bases 1 to 2332)
  AUTHORS   Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux
            JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR,
            Sawcer SJ, Pericak-Vance MA, Haines JL and Barcellos LF.
  CONSRTM   International Multiple Sclerosis Genetics Consortium
  TITLE     Variation within DNA repair pathway genes and risk of multiple
            sclerosis
  JOURNAL   Am. J. Epidemiol. 172 (2), 217-224 (2010)
   PUBMED   20522537
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2332)
  AUTHORS   Loizidou,M.A., Cariolou,M.A., Neuhausen,S.L., Newbold,R.F.,
            Bashiardes,E., Marcou,Y., Michael,T., Daniel,M., Kakouri,E.,
            Papadopoulos,P., Malas,S., Hadjisavvas,A. and Kyriacou,K.
  TITLE     Genetic variation in genes interacting with BRCA1/2 and risk of
            breast cancer in the Cypriot population
  JOURNAL   Breast Cancer Res. Treat. 121 (1), 147-156 (2010)
   PUBMED   19714462
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2332)
  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 2332)
  AUTHORS   Blais,V., Gao,H., Elwell,C.A., Boddy,M.N., Gaillard,P.H.,
            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 2332)
  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 2332)
  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 2332)
  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 DB245967.1, AK055926.1,
            AC004707.2 and BC016470.2.
            On Oct 8, 2009 this sequence version replaced gi:22748968.
            
            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 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DB245967.1         1-9
            10-288              AK055926.1         1-279
            289-289             AC004707.2         66274-66274         c
            290-722             AK055926.1         281-713
            723-723             AC004707.2         65840-65840         c
            724-2313            AK055926.1         715-2304
            2314-2332           BC016470.2         2296-2314
FEATURES             Location/Qualifiers
     source          1..2332
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..2332
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /note="essential meiotic structure-specific endonuclease
                     1"
                     /db_xref="GeneID:146956"
                     /db_xref="HGNC:24965"
                     /db_xref="MIM:610885"
     exon            1..58
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     exon            59..857
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    71..73
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /note="upstream in-frame stop codon"
     CDS             83..1795
                     /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="GI:260764007"
                     /db_xref="CCDS:CCDS11565.1"
                     /db_xref="GeneID:146956"
                     /db_xref="HGNC:24965"
                     /db_xref="MIM:610885"
                     /translation="
MALKKSSPSLDSGDSDSEELPTFAFLKKEPSSTKRRQPEREEKIVVVDISDCEASCPPAPELFSPPVPEIAETVTQTQPVRLLSSESEDEEEFIPLAQRLTCKFLTHKQLSPEDSSSPVKSVLDHQNNEGASCDWKKPFPKIPEVPLHDTPERSAADNKDLILDPCCQLPAYLSTCPGQSSSLAVTKTNSDILPPQKKTKPSQKVQGRGSHGCRQQRQARQKESTLRRQERKNAALVTRMKAQRPEECLKHIIVVLDPVLLQMEGGGQLLGALQTMECRCVIEAQAVPCSVTWRRRAGPSEDREDWVEEPTVLVLLRAEAFVSMIDNGKQGSLDSTMKGKETLQGFVTDITAKTAGKALSLVIVDQEKCFSAQNPPRRGKQGANKQTKKQQQRQPEASIGSMVSRVDAEEALVDLQLHTEAQAQIVQSWKELADFTCAFTKAVAEAPFKKLRDETTFSFCLESDWAGGVKVDLAGRGLALVWRRQIQQLNRVSLEMASAVVNAYPSPQLLVQAYQQCFSDKERQNLLADIQVRRGEGVTSTSRRIGPELSRRIYLQMTTLQPHLSLDSAD
"
     misc_feature    116..118
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AY2.2); phosphorylation site"
     misc_feature    125..127
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AY2.2); phosphorylation site"
     misc_feature    332..334
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AY2.2); phosphorylation site"
     misc_feature    335..337
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AY2.2); phosphorylation site"
     misc_feature    341..343
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AY2.2); phosphorylation site"
     misc_feature    413..415
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AY2.2); phosphorylation site"
     misc_feature    431..433
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AY2.2); phosphorylation site"
     misc_feature    530..532
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine; propagated from
                     UniProtKB/Swiss-Prot (Q96AY2.2); phosphorylation site"
     exon            858..985
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     exon            986..1072
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     exon            1073..1194
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     STS             1127..1377
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /standard_name="G73139"
                     /db_xref="UniSTS:231371"
     exon            1195..1312
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     exon            1313..1428
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     exon            1429..1618
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     exon            1619..2315
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /inference="alignment:Splign:1.39.8"
     STS             2134..2236
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /standard_name="WI-11424"
                     /db_xref="UniSTS:42746"
     STS             2181..2265
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /standard_name="SGC32559"
                     /db_xref="UniSTS:12447"
     variation       complement(2268)
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3744527"
     variation       complement(2271)
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1043277"
     polyA_signal    2293..2298
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
     polyA_site      2315
                     /gene="EME1"
                     /gene_synonym="MMS4L; SLX2A"
ORIGIN      
aggagatctacttccgggccctgcgtggcagttgaaagagtggcgggagaagttgcagggaattatttgatagcacatactgatggctctaaagaagtcatcaccctcactggattctggtgatagtgactctgaggagttgccaacatttgcctttctgaagaaggaaccatcttcaacaaagaggagacagcctgaaagggaagagaagattgtagtggttgacatctcagattgtgaagcctcctgtcctccagcaccagagttattttcaccacctgtcccagaaatagctgaaactgtcacacaaacacagccagtcaggttgctaagcagtgaaagtgaagatgaagaagaatttattcctctggctcaaaggcttacatgtaagtttctgacccacaagcaactgagccctgaggactctagctccccagttaaaagtgttttggatcatcaaaataatgaaggtgcatcatgtgactggaaaaagccctttccaaagatccctgaagttcccctccatgataccccagagaggagtgcagcagataacaaggacctgatcttagatccatgctgtcagcttccagcctacctgtctacctgccctggccagagcagcagcttggcagtaaccaaaacaaattctgacatccttccaccccagaagaaaaccaagccgagtcagaaggtccagggaagaggctcacacggatgccggcagcagagacaagcaaggcagaaggaaagcaccctgagaagacaggaaagaaagaatgcagcactggttaccaggatgaaagcccagaggccagaggaatgcttaaaacacatcattgtagtgctggatccagtgctcttacagatggaaggtgggggccagctcctaggagcactgcagaccatggagtgccgctgtgtgattgaggcgcaggctgtgccttgcagtgtcacttggaggagaagggctgggccgtctgaggacagagaggactgggtggaggagccaacagtactggtgttgctccgggcagaggcatttgtgtccatgatcgacaatggaaagcagggaagcctggacagcactatgaaagggaaggaaacgcttcagggctttgtaactgacatcacagcaaagacagcagggaaagctctgtcactggtgattgtggatcaggagaaatgcttcagtgctcagaatcctccaagaagagggaaacagggagcaaataaacagaccaagaagcagcagcagagacaaccagaggccagcatagggtccatggtatccagggtagacgctgaagaggcattggtggatctgcagctacacacagaagcccaggctcaaattgtgcagagctggaaagagctggccgacttcacatgcgcattcacaaaggctgtggctgaggcgcccttcaagaagctccgagatgaaactaccttctccttctgtctggagagtgactgggctggaggggtgaaggtggaccttgctggcaggggactcgcactagtctggaggagacagattcagcagctgaaccgagtcagcctggaaatggccagtgcagttgtgaatgcctatccctccccacagctcctggtacaggcttatcagcagtgtttttcggataaagaacgccagaatttgctcgcagacatacaggtgcgccgtggggaaggtgtgacatccacttctcgccgcattggaccagaactatccaggcgtatctaccttcagatgaccactttacagccacatctctctttagatagtgctgactgattctagccctcagggatgaggatgaaaagctggaaacttccacttccccaacctcagagcctgactgtaatgaagagactggcagcacctcctggaacacaagcctaggtgaggcccagtctttcttgggtcttattatttgtgaaggtctctctgcctgtcggctggggcagagactgaaatactgccacctacctttggcatttaatgttcctctcctggcaaaaattcactgccacagacaaaccacccccactcctacccagccagccctcaaaacacaaaggaacaaagacagtccactcagacacttatttaataactgtagaaatccaaaagaattagcatcaaatcttgaagtcgtgagtgaagctgcgggttggcttgactgggctcagccactgagctgcctcaaccggccaaggaacgggattatgatgactatgcggacttctatattgtcttcatctcattgtgtgtattatgtatttagtttcaataaagcatttgtaccaatggcaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:146956 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
            GeneID:146956 -> Molecular function: GO:0004519 [endonuclease activity] evidence: IEA
            GeneID:146956 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:146956 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:146956 -> Biological process: GO:0006281 [DNA repair] evidence: IEA
            GeneID:146956 -> Biological process: GO:0006310 [DNA recombination] evidence: IEA
            GeneID:146956 -> Cellular component: GO:0005730 [nucleolus] evidence: IEA

by @meso_cacase at DBCLS
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