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2025-05-09 20:18:54, 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 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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