• Gene id: 10721

Gene Summary

• Gene Symbol: POLQ   Gene   UCSC   Ensembl
• Aliases: PRO0327
• Gene name: DNA polymerase theta
• Alternate names: DNA polymerase theta, polymerase (DNA directed), theta, polymerase (DNA) theta,
• Gene location: 3q13.33 (121546005: 121431419)     Exons: 30     NC_000003.12
• OMIM: 604419

Protein Summary

• Protein general information: O75417  
  • Name: DNA polymerase theta (EC 2.7.7.7) (DNA polymerase eta)
  • Length: 2590  
  • Mass: 289,619
• Sequence:

  MNLLRRSGKRRRSESGSDSFSGSGGDSSASPQFLSGSVLSPPPGLGRCLKAAAAGECKPTVPDYERDKLLLANWG
  LPKAVLEKYHSFGVKKMFEWQAECLLLGQVLEGKNLVYSAPTSAGKTLVAELLILKRVLEMRKKALFILPFVSVA
  KEKKYYLQSLFQEVGIKVDGYMGSTSPSRHFSSLDIAVCTIERANGLINRLIEENKMDLLGMVVVDELHMLGDSH
  RGYLLELLLTKICYITRKSASCQADLASSLSNAVQIVGMSATLPNLELVASWLNAELYHTDFRPVPLLESVKVGN
  SIYDSSMKLVREFEPMLQVKGDEDHVVSLCYETICDNHSVLLFCPSKKWCEKLADIIAREFYNLHHQAEGLVKPS
  ECPPVILEQKELLEVMDQLRRLPSGLDSVLQKTVPWGVAFHHAGLTFEERDIIEGAFRQGLIRVLAATSTLSSGV
  NLPARRVIIRTPIFGGRPLDILTYKQMVGRAGRKGVDTVGESILICKNSEKSKGIALLQGSLKPVRSCLQRREGE
  EVTGSMIRAILEIIVGGVASTSQDMHTYAACTFLAASMKEGKQGIQRNQESVQLGAIEACVMWLLENEFIQSTEA
  SDGTEGKVYHPTHLGSATLSSSLSPADTLDIFADLQRAMKGFVLENDLHILYLVTPMFEDWTTIDWYRFFCLWEK
  LPTSMKRVAELVGVEEGFLARCVKGKVVARTERQHRQMAIHKRFFTSLVLLDLISEVPLREINQKYGCNRGQIQS
  LQQSAAVYAGMITVFSNRLGWHNMELLLSQFQKRLTFGIQRELCDLVRVSLLNAQRARVLYASGFHTVADLARAN
  IVEVEVILKNAVPFKSARKAVDEEEEAVEERRNMRTIWVTGRKGLTEREAAALIVEEARMILQQDLVEMGVQWNP
  CALLHSSTCSLTHSESEVKEHTFISQTKSSYKKLTSKNKSNTIFSDSYIKHSPNIVQDLNKSREHTSSFNCNFQN
  GNQEHQTCSIFRARKRASLDINKEKPGASQNEGKTSDKKVVQTFSQKTKKAPLNFNSEKMSRSFRSWKRRKHLKR
  SRDSSPLKDSGACRIHLQGQTLSNPSLCEDPFTLDEKKTEFRNSGPFAKNVSLSGKEKDNKTSFPLQIKQNCSWN
  ITLTNDNFVEHIVTGSQSKNVTCQATSVVSEKGRGVAVEAEKINEVLIQNGSKNQNVYMKHHDIHPINQYLRKQS
  HEQTSTITKQKNIIERQMPCEAVSSYINRDSNVTINCERIKLNTEENKPSHFQALGDDISRTVIPSEVLPSAGAF
  SKSEGQHENFLNISRLQEKTGTYTTNKTKNNHVSDLGLVLCDFEDSFYLDTQSEKIIQQMATENAKLGAKDTNLA
  AGIMQKSLVQQNSMNSFQKECHIPFPAEQHPLGATKIDHLDLKTVGTMKQSSDSHGVDILTPESPIFHSPILLEE
  NGLFLKKNEVSVTDSQLNSFLQGYQTQETVKPVILLIPQKRTPTGVEGECLPVPETSLNMSDSLLFDSFSDDYLV
  KEQLPDMQMKEPLPSEVTSNHFSDSLCLQEDLIKKSNVNENQDTHQQLTCSNDESIIFSEMDSVQMVEALDNVDI
  FPVQEKNHTVVSPRALELSDPVLDEHHQGDQDGGDQDERAEKSKLTGTRQNHSFIWSGASFDLSPGLQRILDKVS
  SPLENEKLKSMTINFSSLNRKNTELNEEQEVISNLETKQVQGISFSSNNEVKSKIEMLENNANHDETSSLLPRKE
  SNIVDDNGLIPPTPIPTSASKLTFPGILETPVNPWKTNNVLQPGESYLFGSPSDIKNHDLSPGSRNGFKDNSPIS
  DTSFSLQLSQDGLQLTPASSSSESLSIIDVASDQNLFQTFIKEWRCKKRFSISLACEKIRSLTSSKTATIGSRFK
  QASSPQEIPIRDDGFPIKGCDDTLVVGLAVCWGGRDAYYFSLQKEQKHSEISASLVPPSLDPSLTLKDRMWYLQS
  CLRKESDKECSVVIYDFIQSYKILLLSCGISLEQSYEDPKVACWLLDPDSQEPTLHSIVTSFLPHELPLLEGMET
  SQGIQSLGLNAGSEHSGRYRASVESILIFNSMNQLNSLLQKENLQDVFRKVEMPSQYCLALLELNGIGFSTAECE
  SQKHIMQAKLDAIETQAYQLAGHSFSFTSSDDIAEVLFLELKLPPNREMKNQGSKKTLGSTRRGIDNGRKLRLGR
  QFSTSKDVLNKLKALHPLPGLILEWRRITNAITKVVFPLQREKCLNPFLGMERIYPVSQSHTATGRITFTEPNIQ
  NVPRDFEIKMPTLVGESPPSQAVGKGLLPMGRGKYKKGFSVNPRCQAQMEERAADRGMPFSISMRHAFVPFPGGS
  ILAADYSQLELRILAHLSHDRRLIQVLNTGADVFRSIAAEWKMIEPESVGDDLRQQAKQICYGIIYGMGAKSLGE
  QMGIKENDAACYIDSFKSRYTGINQFMTETVKNCKRDGFVQTILGRRRYLPGIKDNNPYRKAHAERQAINTIVQG
  SAADIVKIATVNIQKQLETFHSTFKSHGHREGMLQSDQTGLSRKRKLQGMFCPIRGGFFILQLHDELLYEVAEED
  VVQVAQIVKNEMESAVKLSVKLKVKVKIGASWGELKDFDV

• Structural information:
  • Protein Domains: Helicase (102-286)
    Helicase (321-554)
  • Interpro: IPR011545  IPR019760  IPR001098  IPR002298  IPR014001   IPR001650  IPR027417  IPR012337  IPR036397  
  • Prosite: PS00447 PS51192 PS51194
  • CDD: cd00079
  • PDB: 4X0P 4X0Q 5A9F 5A9J 5AGA
  • PDBsum: 4X0P 4X0Q 5A9F 5A9J 5AGA
  • DIP: 61500
  • STRING: ENSP00000264233
• Other Databases: GeneCards:  POLQ  Malacards:  POLQ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000724	double-strand break repair via homologous recombination	TAS	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IMP	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006261	DNA-dependent DNA replication	IEA	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006284	base-excision repair	IDA	biological process
GO:0006302	double-strand break repair	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological process
GO:0043142	single-stranded DNA-dependent ATPase activity	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0051575	5'-deoxyribose-5-phosphate lyase activity	IDA	molecular function
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0097681	double-strand break repair via alternative nonhomologous end joining	IDA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000724	double-strand break repair via homologous recombination	TAS	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IMP	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0006261	DNA-dependent DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006284	base-excision repair	IDA	biological process
GO:0006302	double-strand break repair	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	IEA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0043142	single-stranded DNA-dependent ATPase activity	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0051575	5'-deoxyribose-5-phosphate lyase activity	IDA	molecular function
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0097681	double-strand break repair via alternative nonhomologous end joining	IEA	biological process
GO:0097681	double-strand break repair via alternative nonhomologous end joining	IDA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	TAS	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IMP	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0006284	base-excision repair	IDA	biological process
GO:0006302	double-strand break repair	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological process
GO:0043142	single-stranded DNA-dependent ATPase activity	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0051575	5'-deoxyribose-5-phosphate lyase activity	IDA	molecular function
GO:0097681	double-strand break repair via alternative nonhomologous end joining	IDA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process

Diseases

Associated diseases	References
Cancer (bladder)	GAD: 19237606
Cancer	GAD: 19237606
Cancer (breast)	GAD: 19661089
Chronic renal failure	GAD: 21085059
Varicocele	MIK: 3181490
Male infertility with varicocele	MIK: 3181490
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
3181490	Male infertility with varicocele			43 (37 cases of male infertility with left varicocele, 6 normal controls)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray