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2024-04-20 00:47:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_199420 8787 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.
ACCESSION NM_199420 NM_014125
VERSION NM_199420.3 GI:139394647
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 8787)
AUTHORS Hogg,M., Sauer-Eriksson,A.E. and Johansson,E.
TITLE Promiscuous DNA synthesis by human DNA polymerase theta
JOURNAL Nucleic Acids Res. 40 (6), 2611-2622 (2012)
PUBMED 22135286
REMARK GeneRIF: POLQ possesses a DNA polymerase activity that appears to
be template independent and allows efficient extension of
single-stranded DNA as well as duplex DNA with either protruding or
multiply mismatched 3'-OH termini.
REFERENCE 2 (bases 1 to 8787)
AUTHORS Lemee,F., Bergoglio,V., Fernandez-Vidal,A., Machado-Silva,A.,
Pillaire,M.J., Bieth,A., Gentil,C., Baker,L., Martin,A.L.,
Leduc,C., Lam,E., Magdeleine,E., Filleron,T., Oumouhou,N.,
Kaina,B., Seki,M., Grimal,F., Lacroix-Triki,M., Thompson,A.,
Roche,H., Bourdon,J.C., Wood,R.D., Hoffmann,J.S. and Cazaux,C.
TITLE DNA polymerase theta up-regulation is associated with poor survival
in breast cancer, perturbs DNA replication, and promotes genetic
instability
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (30), 13390-13395 (2010)
PUBMED 20624954
REMARK GeneRIF: Data show that POLQ overexpression may be a promising
genetic instability and prognostic marker for breast cancer.
REFERENCE 3 (bases 1 to 8787)
AUTHORS Higgins,G.S., Harris,A.L., Prevo,R., Helleday,T., McKenna,W.G. and
Buffa,F.M.
TITLE Overexpression of POLQ confers a poor prognosis in early breast
cancer patients
JOURNAL Oncotarget 1 (3), 175-184 (2010)
PUBMED 20700469
REMARK GeneRIF: overexpression in breast cancer confers an adverse
prognosis and is associated with key cancer pathways
REFERENCE 4 (bases 1 to 8787)
AUTHORS Hussain,S.K., Mu,L.N., Cai,L., Chang,S.C., Park,S.L., Oh,S.S.,
Wang,Y., Goldstein,B.Y., Ding,B.G., Jiang,Q., Rao,J., You,N.C.,
Yu,S.Z., Papp,J.C., Zhao,J.K., Wang,H. and Zhang,Z.F.
TITLE Genetic variation in immune regulation and DNA repair pathways and
stomach cancer in China
JOURNAL Cancer Epidemiol. Biomarkers Prev. 18 (8), 2304-2309 (2009)
PUBMED 19661089
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 8787)
AUTHORS Michiels,S., Laplanche,A., Boulet,T., Dessen,P., Guillonneau,B.,
Mejean,A., Desgrandchamps,F., Lathrop,M., Sarasin,A. and
Benhamou,S.
TITLE Genetic polymorphisms in 85 DNA repair genes and bladder cancer
risk
JOURNAL Carcinogenesis 30 (5), 763-768 (2009)
PUBMED 19237606
REMARK GeneRIF: Observational study of gene-disease association, gene-gene
interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE 6 (bases 1 to 8787)
AUTHORS Kawamura,K., Bahar,R., Seimiya,M., Chiyo,M., Wada,A., Okada,S.,
Hatano,M., Tokuhisa,T., Kimura,H., Watanabe,S., Honda,I.,
Sakiyama,S., Tagawa,M. and O-Wang,J.
TITLE DNA polymerase theta is preferentially expressed in lymphoid
tissues and upregulated in human cancers
JOURNAL Int. J. Cancer 109 (1), 9-16 (2004)
PUBMED 14735462
REMARK GeneRIF: DNA Pol theta has a specialized function in lymphocytes
and in tumor progression
REFERENCE 7 (bases 1 to 8787)
AUTHORS Seki,M., Marini,F. and Wood,R.D.
TITLE POLQ (Pol theta), a DNA polymerase and DNA-dependent ATPase in
human cells
JOURNAL Nucleic Acids Res. 31 (21), 6117-6126 (2003)
PUBMED 14576298
REMARK GeneRIF: the isolation of the full-length human DNA POLQ gene, and
an initial characterization of its gene product, DNA polymerase
theta
REFERENCE 8 (bases 1 to 8787)
AUTHORS Maga,G., Shevelev,I., Ramadan,K., Spadari,S. and Hubscher,U.
TITLE DNA polymerase theta purified from human cells is a high-fidelity
enzyme
JOURNAL J. Mol. Biol. 319 (2), 359-369 (2002)
PUBMED 12051913
REMARK GeneRIF: DNA polymerase theta purified from human cells is a
high-fidelity enzyme.
REFERENCE 9 (bases 1 to 8787)
AUTHORS Sharief,F.S., Vojta,P.J., Ropp,P.A. and Copeland,W.C.
TITLE Cloning and chromosomal mapping of the human DNA polymerase theta
(POLQ), the eighth human DNA polymerase
JOURNAL Genomics 59 (1), 90-96 (1999)
PUBMED 10395804
REFERENCE 10 (bases 1 to 8787)
AUTHORS Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
and Morton,C.C.
TITLE Isolation of novel and known genes from a human fetal cochlear cDNA
library using subtractive hybridization and differential screening
JOURNAL Genomics 23 (1), 42-50 (1994)
PUBMED 7829101
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AY338826.2, AC069239.16, AB209867.1, AC079841.10 and AA767021.1.
On Apr 3, 2007 this sequence version replaced gi:76881816.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript matching the
genomic sequence was available for the full length of the gene. The
extent of this transcript is supported by transcript alignments.
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 :: AY338826.2, AB209867.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025083 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-325 AY338826.2 1-325
326-326 AC069239.16 53292-53292
327-1079 AY338826.2 327-1079
1080-1277 AB209867.1 1008-1205
1278-1565 AY338826.2 1278-1565
1566-1566 AC069239.16 78263-78263
1567-3073 AY338826.2 1567-3073
3074-3074 AC079841.10 147708-147708 c
3075-7666 AY338826.2 3075-7666
7667-7667 AC079841.10 93849-93849 c
7668-8775 AY338826.2 7668-8775
8776-8787 AA767021.1 1-12 c
FEATURES Location/Qualifiers
source 1..8787
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q13.33"
gene 1..8787
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="polymerase (DNA directed), theta"
/db_xref="GeneID:10721"
/db_xref="HGNC:9186"
/db_xref="MIM:604419"
exon 1..292
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
CDS 130..7902
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/EC_number="2.7.7.7"
/note="DNA polymerase eta"
/codon_start=1
/product="DNA polymerase theta"
/protein_id="NP_955452.3"
/db_xref="GI:139394648"
/db_xref="CCDS:CCDS33833.1"
/db_xref="GeneID:10721"
/db_xref="HGNC:9186"
/db_xref="MIM:604419"
/translation="
MNLLRRSGKRRRSESGSDSFSGSGGDSSASPQFLSGSVLSPPPGLGRCLKAAAAGECKPTVPDYERDKLLLANWGLPKAVLEKYHSFGVKKMFEWQAECLLLGQVLEGKNLVYSAPTSAGKTLVAELLILKRVLEMRKKALFILPFVSVAKEKKYYLQSLFQEVGIKVDGYMGSTSPSRHFSSLDIAVCTIERANGLINRLIEENKMDLLGMVVVDELHMLGDSHRGYLLELLLTKICYITRKSASCQADLASSLSNAVQIVGMSATLPNLELVASWLNAELYHTDFRPVPLLESVKVGNSIYDSSMKLVREFEPMLQVKGDEDHVVSLCYETICDNHSVLLFCPSKKWCEKLADIIAREFYNLHHQAEGLVKPSECPPVILEQKELLEVMDQLRRLPSGLDSVLQKTVPWGVAFHHAGLTFEERDIIEGAFRQGLIRVLAATSTLSSGVNLPARRVIIRTPIFGGRPLDILTYKQMVGRAGRKGVDTVGESILICKNSEKSKGIALLQGSLKPVRSCLQRREGEEVTGSMIRAILEIIVGGVASTSQDMHTYAACTFLAASMKEGKQGIQRNQESVQLGAIEACVMWLLENEFIQSTEASDGTEGKVYHPTHLGSATLSSSLSPADTLDIFADLQRAMKGFVLENDLHILYLVTPMFEDWTTIDWYRFFCLWEKLPTSMKRVAELVGVEEGFLARCVKGKVVARTERQHRQMAIHKRFFTSLVLLDLISEVPLREINQKYGCNRGQIQSLQQSAAVYAGMITVFSNRLGWHNMELLLSQFQKRLTFGIQRELCDLVRVSLLNAQRARVLYASGFHTVADLARANIVEVEVILKNAVPFKSARKAVDEEEEAVEERRNMRTIWVTGRKGLTEREAAALIVEEARMILQQDLVEMGVQWNPCALLHSSTCSLTHSESEVKEHTFISQTKSSYKKLTSKNKSNTIFSDSYIKHSPNIVQDLNKSREHTSSFNCNFQNGNQEHQTCSIFRARKRASLDINKEKPGASQNEGKTSDKKVVQTFSQKTKKAPLNFNSEKMSRSFRSWKRRKHLKRSRDSSPLKDSGACRIHLQGQTLSNPSLCEDPFTLDEKKTEFRNSGPFAKNVSLSGKEKDNKTSFPLQIKQNCSWNITLTNDNFVEHIVTGSQSKNVTCQATSVVSEKGRGVAVEAEKINEVLIQNGSKNQNVYMKHHDIHPINQYLRKQSHEQTSTITKQKNIIERQMPCEAVSSYINRDSNVTINCERIKLNTEENKPSHFQALGDDISRTVIPSEVLPSAGAFSKSEGQHENFLNISRLQEKTGTYTTNKTKNNHVSDLGLVLCDFEDSFYLDTQSEKIIQQMATENAKLGAKDTNLAAGIMQKSLVQQNSMNSFQKECHIPFPAEQHPLGATKIDHLDLKTVGTMKQSSDSHGVDILTPESPIFHSPILLEENGLFLKKNEVSVTDSQLNSFLQGYQTQETVKPVILLIPQKRTPTGVEGECLPVPETSLNMSDSLLFDSFSDDYLVKEQLPDMQMKEPLPSEVTSNHFSDSLCLQEDLIKKSNVNENQDTHQQLTCSNDESIIFSEMDSVQMVEALDNVDIFPVQEKNHTVVSPRALELSDPVLDEHHQGDQDGGDQDERAEKSKLTGTRQNHSFIWSGASFDLSPGLQRILDKVSSPLENEKLKSMTINFSSLNRKNTELNEEQEVISNLETKQVQGISFSSNNEVKSKIEMLENNANHDETSSLLPRKESNIVDDNGLIPPTPIPTSASKLTFPGILETPVNPWKTNNVLQPGESYLFGSPSDIKNHDLSPGSRNGFKDNSPISDTSFSLQLSQDGLQLTPASSSSESLSIIDVASDQNLFQTFIKEWRCKKRFSISLACEKIRSLTSSKTATIGSRFKQASSPQEIPIRDDGFPIKGCDDTLVVGLAVCWGGRDAYYFSLQKEQKHSEISASLVPPSLDPSLTLKDRMWYLQSCLRKESDKECSVVIYDFIQSYKILLLSCGISLEQSYEDPKVACWLLDPDSQEPTLHSIVTSFLPHELPLLEGMETSQGIQSLGLNAGSEHSGRYRASVESILIFNSMNQLNSLLQKENLQDVFRKVEMPSQYCLALLELNGIGFSTAECESQKHIMQAKLDAIETQAYQLAGHSFSFTSSDDIAEVLFLELKLPPNREMKNQGSKKTLGSTRRGIDNGRKLRLGRQFSTSKDVLNKLKALHPLPGLILEWRRITNAITKVVFPLQREKCLNPFLGMERIYPVSQSHTATGRITFTEPNIQNVPRDFEIKMPTLVGESPPSQAVGKGLLPMGRGKYKKGFSVNPRCQAQMEERAADRGMPFSISMRHAFVPFPGGSILAADYSQLELRILAHLSHDRRLIQVLNTGADVFRSIAAEWKMIEPESVGDDLRQQAKQICYGIIYGMGAKSLGEQMGIKENDAACYIDSFKSRYTGINQFMTETVKNCKRDGFVQTILGRRRYLPGIKDNNPYRKAHAERQAINTIVQGSAADIVKIATVNIQKQLETFHSTFKSHGHREGMLQSDQTGLSRKRKLQGMFCPIRGGFFILQLHDELLYEVAEEDVVQVAQIVKNEMESAVKLSVKLKVKVKIGASWGELKDFDV
"
misc_feature 355..2628
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="ski2-like helicase; Provisional; Region: PRK02362"
/db_xref="CDD:179415"
misc_feature 454..933
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="DEAD-like helicases superfamily. A diverse family
of proteins involved in ATP-dependent RNA or DNA
unwinding. This domain contains the ATP-binding region;
Region: DEXDc; cd00046"
/db_xref="CDD:28927"
misc_feature 481..495
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="ATP binding site [chemical binding]; other site"
/db_xref="CDD:28927"
misc_feature 775..786
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75417.2);
Region: DEAH box"
misc_feature 775..786
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="putative Mg++ binding site [ion binding]; other
site"
/db_xref="CDD:28927"
misc_feature 1087..1584
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="Helicase superfamily c-terminal domain; associated
with DEXDc-, DEAD-, and DEAH-box proteins, yeast
initiation factor 4A, Ski2p, and Hepatitis C virus NS3
helicases; this domain is found in a wide variety of
helicases and helicase related proteins; may...; Region:
HELICc; cd00079"
/db_xref="CDD:28960"
misc_feature order(1162..1173,1378..1383,1456..1464)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="nucleotide binding region [chemical binding]; other
site"
/db_xref="CDD:28960"
misc_feature order(1480..1482,1555..1557,1567..1569,1576..1578)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="ATP-binding site [chemical binding]; other site"
/db_xref="CDD:28960"
misc_feature 3097..3099
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (O75417.2); acetylation site"
misc_feature 5827..7887
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="DNA polymerase I - 3'-5' exonuclease and polymerase
domains [DNA replication, recombination, and repair];
Region: PolA; COG0749"
/db_xref="CDD:31092"
misc_feature 5827..6384
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="DnaQ-like (or DEDD) 3'-5' exonuclease domain
superfamily; Region: DnaQ_like_exo; cl10012"
/db_xref="CDD:211457"
misc_feature order(6022..6027,6031..6039,6262..6264)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="active site"
/db_xref="CDD:176647"
misc_feature order(6022..6027,6031..6036,6262..6264)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="substrate binding site [chemical binding]; other
site"
/db_xref="CDD:176647"
misc_feature order(6037..6039,6262..6264)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="catalytic site [active]"
/db_xref="CDD:176647"
misc_feature 6400..>6486
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="Family A polymerase primarily fills DNA gaps that
arise during DNA repair, recombination and replication;
Region: DNA_pol_A; cl02626"
/db_xref="CDD:207677"
misc_feature 6661..7884
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="DNA polymerase theta is a low-fidelity family A
enzyme implicated in translesion synthesis and in somatic
hypermutation; Region: DNA_pol_A_theta; cd08638"
/db_xref="CDD:176475"
misc_feature order(6730..6732,6742..6744,6751..6756,6838..6846,
6850..6852,6856..6867,7117..7122,7204..7206,7264..7266,
7276..7278,7528..7530,7549..7551,7741..7749)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="active site"
/db_xref="CDD:176475"
misc_feature order(6730..6732,6742..6744,6751..6756,6838..6846,
6850..6852,6856..6867,7300..7302,7525..7530,7537..7539,
7549..7551,7741..7749)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:176475"
misc_feature order(7117..7122,7126..7128,7204..7206,7264..7266,
7276..7278,7747..7749)
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/note="catalytic site [active]"
/db_xref="CDD:176475"
exon 293..472
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 326
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="g"
/replace="t"
/db_xref="dbSNP:702017"
exon 473..603
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 604..760
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 672
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:36065146"
variation 719
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="g"
/replace="t"
/db_xref="dbSNP:41545723"
exon 761..869
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 870..1089
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 1002
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:41390550"
exon 1090..1237
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 1238..1384
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 1385..1597
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 1452
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:35766343"
variation 1566
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:702018"
exon 1598..1740
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 1675
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:34624267"
exon 1741..1945
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 1946..2088
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 2089..2282
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 2283..2407
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 2408..2651
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 2652..5758
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
STS 2739..3426
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/standard_name="csnppolq-pcr1-2"
/db_xref="UniSTS:243094"
variation 2892
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:3218646"
variation 3009
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:3218641"
variation 3013
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218636"
variation 3020
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="c"
/db_xref="dbSNP:3218633"
variation 3074
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="g"
/db_xref="dbSNP:3218649"
variation 3201..3203
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace=""
/replace="aaa"
/db_xref="dbSNP:41547220"
variation 3279
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:34246901"
variation 3296
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:34778629"
STS 3307..4086
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/standard_name="csnppolq-pcr1-3"
/db_xref="UniSTS:243095"
variation 3731
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218651"
variation 3896
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218640"
variation 3899
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218644"
STS 3940..4668
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/standard_name="csnppolq-pcr1-4"
/db_xref="UniSTS:243096"
variation 4024
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218632"
variation 4146
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:34240370"
variation 4186
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218631"
variation 4270
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="c"
/db_xref="dbSNP:3218642"
STS 4530..5280
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/standard_name="csnppolq-pcr1-5"
/db_xref="UniSTS:243097"
variation 4649
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:35877350"
variation 4764
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="c"
/db_xref="dbSNP:3218652"
variation 4813
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="g"
/replace="t"
/db_xref="dbSNP:3218643"
variation 4824
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="g"
/replace="t"
/db_xref="dbSNP:3218639"
variation 5380
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="g"
/replace="t"
/db_xref="dbSNP:35775179"
exon 5759..5902
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 5903..6099
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 5987
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218637"
exon 6100..6340
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 6341..6534
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 6535..6672
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 6673..6847
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 6676
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218648"
exon 6848..6974
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 6975..7096
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 7011
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:532326"
variation 7040
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="c"
/replace="t"
/db_xref="dbSNP:532411"
exon 7097..7281
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 7282..7393
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 7394..7518
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 7422
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218645"
variation 7498
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="t"
/db_xref="dbSNP:1142917"
exon 7519..7672
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
variation 7519
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:41540016"
variation 7522
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="g"
/db_xref="dbSNP:3218635"
variation 7572
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/replace="a"
/replace="c"
/db_xref="dbSNP:199513251"
exon 7673..7788
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
exon 7789..8780
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
/inference="alignment:Splign:1.39.8"
polyA_signal 8754..8759
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
polyA_site 8780
/gene="POLQ"
/gene_synonym="POLH; PRO0327"
ORIGIN
gggcgggccgggaggtttgagtttgaagactggcgggaagatgtccgcagctgttgccaggccagggttctcccgagagggaggacgctgggactgtggcttgccctgatcggccgagaagagtttgccatgaatcttctgcgtcggagtgggaaacggcggcgttcagaatcaggctcagattcgttctcgggaagcggcggtgacagcagtgccagcccccagttcctctccgggtccgtgctgagcccgccgcccggccttggtcgctgcctgaaggccgcagctgcaggagaatgcaagcctacagttcctgactacgaaagagacaagctactattggcaaactggggacttcctaaagcagttctggaaaaataccacagttttggtgtaaaaaagatgtttgaatggcaggcagagtgccttttgcttggacaagtcctggaaggaaagaatttagtttattcagctcctacaagtgctgggaagactcttgtggcagaattacttattttgaagcgggttttggaaatgcggaagaaagctttgtttattcttccctttgtttctgtggctaaagagaagaaatactacctccagagtctgtttcaggaagtaggaataaaagtagacggttatatgggcagcacctctccatcaaggcatttctcttcattggatattgcagtctgcacaattgagagagccaatggtctgatcaatcgcctcatagaggaaaataagatggatctgttaggaatggtggttgtggatgaattacatatgctgggagactctcaccgagggtatctgctggaacttttgctgaccaagatttgctatattactcggaaatcagcatcttgtcaggcagatctagccagttctctgtctaatgctgtgcaaatcgttggcatgagtgctacccttcctaatttggagcttgtggcttcctggttgaatgctgaactctaccataccgactttcgccctgtaccgcttttggagtcagtaaaagttggaaattccatatatgactcttcaatgaaacttgtgagggaatttgagcccatgctacaagtgaagggagatgaggaccatgttgttagtttatgttatgagacgatttgtgataaccattcagtattacttttttgtccatcaaagaaatggtgtgagaagctggcagatatcattgctcgagagttttataatctacatcatcaagctgagggattggtgaaaccctctgaatgcccaccagtaattctggaacaaaaagaactcctggaagtgatggatcagttaagacgtttgccttcaggactggactctgtattacagaaaactgtaccatggggagtagcatttcatcatgcaggtcttacttttgaggagagggatatcattgaaggagcctttcgtcaaggtctcattcgggtcttggcggcaacttctactctttcttctggggtgaatttacctgcacgtcgtgtgattattcgaacccctatttttggtggtcgacctctagatattcttacttataagcagatggttggccgtgctggcaggaaaggagtggacacagtaggcgagagtatcttaatttgtaagaactctgagaaatcaaaaggcatagctctccttcagggttctctaaagcctgttcgcagctgtctgcaaagacgagaaggagaagaagtaactggcagcatgatacgagctattctggagataatagttggtggagtggcaagtacatcacaagatatgcatacttatgctgcctgcacatttttggctgcaagtatgaaagaagggaagcaaggaattcagagaaatcaagagtctgttcagcttggagcgattgaggcctgtgtgatgtggctactagaaaatgaattcatccagagtacagaagccagtgatggaacagaaggaaaggtgtatcatccaacacatcttggttcggccactctttcttcttcactttctccagctgatactttagatatttttgctgacctgcaaagagcaatgaagggctttgttttagagaatgatcttcatattctctatctggttacacctatgtttgaggattggactactattgattggtatcgatttttctgtttatgggagaagttgccaacttcaatgaaaagggtggcagagctagtgggagttgaagaggggttcttggcccgttgtgtgaaaggaaaagtagtagccagaactgagagacagcatcgacaaatggccatccataaaaggtttttcaccagtcttgtgctattagatttaatcagtgaagttcccttaagggaaataaatcagaaatatggatgcaatcgtgggcagattcaatctttgcaacagtcagctgctgtttatgcagggatgattacagtattttccaaccgtctgggctggcacaacatggaactactactttcccaatttcagaagcgtcttacgtttggcatccagagggagctgtgtgacctggttcgggtatccttactaaatgctcagagagccagggttctctatgcttctggctttcatactgtggcagaccttgctagagcaaatattgtggaggtggaggtgattctgaaaaatgctgtgcctttcaaaagtgcccggaaggcagtggatgaggaagaggaagcagttgaagaacgtcgcaatatgcgaactatctgggtgactggcagaaaaggtttaactgaaagggaagcagcagcccttatagtggaagaagccagaatgattctgcagcaggacttagttgaaatgggagtgcaatggaatccatgtgccctgttacattctagtacatgctcattgactcatagtgagtccgaagtaaaggaacacacatttatatcccaaactaagagttcttataaaaaattaacatcaaagaacaaaagtaacacaatatttagtgattcttatattaagcattcaccaaatatagtgcaagacttaaataaaagtagagagcatacaagttcctttaattgtaatttccagaatgggaatcaagaacatcagacatgttccattttcagagcaagaaaacgggcctctttagatataaataaagagaagccaggagcctctcagaatgaggggaaaacaagtgataagaaagttgttcagactttttcacagaaaacaaaaaaggcacctttgaatttcaattcagaaaagatgagcagaagttttcgatcttggaaacgtagaaagcatctaaagcgatctagggacagcagccccctgaaagactctggagcgtgtagaatccatttacaaggacagactctgtctaatcctagtctttgtgaagacccgtttaccttagatgagaagaaaacggaatttagaaattcagggccatttgctaaaaatgtatctttgagtggtaaggaaaaagataataaaacatcattcccattacaaataaagcaaaattgttcatggaacataacactaactaatgataattttgtggagcatattgtcacaggatctcagagtaaaaatgtgacttgtcaggccactagtgtggttagtgaaaagggcagaggagtagctgttgaggcagaaaaaataaatgaagtgctgatacaaaatggttcaaaaaaccagaatgtttatatgaaacaccatgacatccatccaattaaccagtacctgcgaaagcaatctcatgaacagacaagcactattaccaaacagaaaaatataatagagagacaaatgccctgtgaagcagtcagtagttacataaatagagactcaaatgttactatcaattgtgaaaggataaagcttaatacagaggaaaataaaccaagtcattttcaggcattaggagatgatataagcagaactgtgatacccagtgaagtacttccatcagctggagcatttagcaaatcagaaggccagcatgagaattttctaaatatttctagactacaagaaaaaacaggtacttatacaacaaacaaaactaaaaataatcatgtttctgacttaggtttagtcctctgtgattttgaagatagtttctatctggatactcagtcagagaaaataatacaacagatggcaactgaaaatgccaaactaggagcaaaggacaccaacctggcagcagggataatgcagaagagcttagtccaacagaactcaatgaactcttttcagaaggagtgtcacattccttttcctgctgaacagcaccctctaggagcgactaagatagatcatttggaccttaagactgtaggtactatgaaacaaagcagtgattcacatggggttgatatcctgactccagaaagcccgattttccattctccaatactattggaggaaaatggtctttttttaaaaaagaatgaagtttctgttactgattcacaattaaatagttttcttcaaggttatcaaacacaagaaactgtgaaaccagttatacttctgattcctcaaaagagaactcccactggtgtagaaggagaatgtcttccagttcctgaaacaagtttgaatatgagtgatagtttactatttgatagcttcagtgatgactatctagtaaaagaacaattacctgatatgcaaatgaaagaaccccttccttcagaagtaacatcaaaccattttagtgattctctgtgtctacaagaagacctaattaaaaaatcaaatgtaaatgagaatcaagatacccaccagcagttgacttgttccaatgatgaatctattatattttcagaaatggattctgttcagatggttgaagctttggacaatgtggatatatttcctgtccaagagaagaatcatactgtagtatctcctagagcattagaactaagtgatccagtacttgatgagcaccaccaaggtgatcaagatggaggagatcaagatgaaagggctgaaaaatcaaaattaactgggaccaggcaaaatcattcattcatatggtcaggggcatcatttgatctaagtccaggactgcaaaggattttagataaagtatccagtcctctagaaaatgaaaagctaaaatcaatgactataaacttttccagtttgaatagaaaaaatacagagttaaatgaagaacaagaagttatttcaaacttggagacaaaacaagtgcagggaatttcattttcttctaataatgaagtaaaaagcaagattgagatgctagaaaacaatgccaatcatgatgaaacctcatccctcttacctcgtaaagaaagtaatatagttgatgataatggtctcattcctcctacacccattccaacatctgcttctaagctgacatttccagggattcttgaaacacctgtaaacccttggaaaactaataatgttttacaacctggtgaaagttatttatttggctcaccttcagatattaaaaaccacgatttaagtccagggagtagaaatgggttcaaagacaacagccctattagtgacacaagcttttcacttcagttatcacaggatggattacagttaactccagcctcaagcagttcagaaagtttgtccataattgatgtagcaagtgaccaaaatcttttccaaacattcattaaggagtggcggtgcaaaaagcgattttccatctcactggcttgtgaaaagattagaagtttgacatcttctaaaactgctactattggcagtaggtttaagcaagctagctcacctcaggaaattcctattagagatgatggatttcccattaaaggttgtgatgacaccttggtggttggactggcagtatgctggggtggaagggatgcctattatttttcactgcagaaggaacaaaagcattctgaaattagtgccagtttggttccaccttctttagatccaagcctgactttgaaagacaggatgtggtaccttcaatcttgcttgcgaaaggaatctgataaagaatgttctgttgtcatctatgacttcatccagagctataaaattcttcttctttcttgtggcatctccttggagcaaagttatgaagatcctaaggtggcatgctggttactagatccagattctcaggagccgactcttcatagcatagttaccagttttcttcctcatgagcttccactcctagaagggatggagaccagccaagggattcaaagcctggggctaaatgctggcagtgagcattctgggcgatacagagcatctgtggagtccattctcatcttcaactctatgaatcagctcaactctttgttgcagaaggaaaaccttcaagatgttttccgtaaggtggaaatgccctctcagtactgcttggccttgctagaactaaatggaattggctttagtactgcagaatgtgaaagtcagaaacatataatgcaagccaagctggatgcaattgagacccaggcctatcaactagctggccacagtttttctttcaccagttcagatgacatcgctgaggttttatttttggaattgaagttgcccccaaatagagagatgaaaaaccaaggcagcaagaaaactctgggttctaccagaagagggattgacaatggacgcaagctaaggctgggaagacagttcagcactagtaaggacgttttaaataaattaaaggcattacatcctttaccaggcttgatattagaatggagaagaatcactaatgctattaccaaagtggtctttccccttcagcgggaaaagtgtcttaatccttttcttggaatggaaagaatctatcctgtatcacagtcgcacactgctacaggacgaataacctttacagaaccaaatattcagaatgtgccaagagattttgaaatcaaaatgccaacactagtaggagaaagcccaccttctcaagctgtaggcaaaggcctacttcccatgggcagaggaaaatataagaagggtttcagcgtgaatcctagatgccaggcacagatggaggagagagctgcagacagaggaatgccattttcaattagcatgcgacatgcctttgtgcctttcccaggtggttcaatactggctgctgactactctcagcttgaactgaggatcttggctcatttatcccatgatcgtcgtctcattcaagtgttaaacactggagctgatgttttcaggagcattgcagcagagtggaagatgattgagccagagtctgttggggatgatctgaggcagcaggcaaaacagatttgctatgggatcatttatggaatgggagctaaatctttgggagagcagatgggcattaaagaaaatgatgctgcatgctatattgactccttcaaatccagatacacagggattaatcaattcatgacagagacagtgaagaattgtaaaagagacggatttgttcagaccattttgggaaggcgtagatatttgccaggaatcaaagacaacaacccttatcgtaaagctcacgctgagcgtcaagctatcaacacaatagtccaaggatcagcagctgatattgtcaaaatagccacagttaacattcagaagcaattagagaccttccactcaaccttcaaatcccatggtcatcgagagggtatgctccaaagtgaccaaacaggattgtcacgaaagagaaaactgcaagggatgttctgcccaatcagaggaggcttcttcatccttcaactccatgatgaactcctatatgaagtggcagaagaagatgttgttcaggtagctcagattgtcaagaatgaaatggaaagtgctgtaaaactgtctgtgaaattgaaagtgaaagtgaaaataggcgccagctggggagagctaaaggactttgatgtgtaactgtgctgttgatgaagtcctcccagggaagcctgtgcagatgcagtcacctggaaagaacagagattaccctttcacctacctcagcaaaacaaactttcaagtcttgatagacttagcctagtaattttatagtgagagtttcaaactatatatcagtgtctatagcatcaaaaacttctgggggcgtgggggaagtagaataccaagtataatagttacattcactttcaaagagcatctatgaatttgccttttgtaacttactgtggctttaaacatattcagaacagatgcttgaaatatgcacttagcactttggttccacatctgtctgggtaaaccatgaagaaaatgaagctgctgcctcaatcgacccagacagcagccataggcagataaagatttggtttcaccctggtggtggtaggcatcgtgtgtgactttttttcctctaatatcaattttacagtacggaaatagtattttaaaatagtattggctaataaattatgaattctataaagtagtaagacttggtatggttggagtgtaggaatgaatattcatgaaatgtttcttattgcttttccttccctaattcatacaatgaatgtatttggaatacttacatattataaaataaactatacctcttcaagaggtatcctgttctgtaagatcagatgtttttattgcaggtcaatataatactgccagagacagaaaatacccccttatcagtcccttagtgcctctttctgtttgtggcatggtgagaaaacccatgctgaaaagattgtactttgtgatcccaatcagagggatggagctaatctttttgctgttgaaataaaatgaatttatgagaaactttaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10721 -> Molecular function: GO:0003684 [damaged DNA binding] evidence: TAS
GeneID:10721 -> Molecular function: GO:0003887 [DNA-directed DNA polymerase activity] evidence: IDA
GeneID:10721 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:10721 -> Molecular function: GO:0008026 [ATP-dependent helicase activity] evidence: IEA
GeneID:10721 -> Molecular function: GO:0043142 [single-stranded DNA-dependent ATPase activity] evidence: IDA
GeneID:10721 -> Biological process: GO:0006260 [DNA replication] evidence: IEA
GeneID:10721 -> Biological process: GO:0006281 [DNA repair] evidence: IEA
GeneID:10721 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_955452 -> EC 2.7.7.7
by
@meso_cacase at
DBCLS
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