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UniProtKB - O75417 (DPOLQ_HUMAN)

Protein

DNA polymerase theta

Gene

POLQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

DNA polymerase that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery triggered in response to double-strand breaks in DNA (PubMed:25642963, PubMed:25643323). MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation (PubMed:25642963, PubMed:25643323). POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends (PubMed:25642963). POLQ-mediated MMEJ may be required to promote the survival of cells with a compromised HR repair pathway, thereby preventing genomic havoc by resolving unrepaired lesions (By similarity). The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs. It then extends each strand from the base-paired region using the opposing overhang as a template. Requires partially resected DNA containing 2 to 6 base pairs of microhomology to perform MMEJ (PubMed:25643323). The polymerase activity is highly promiscuous: unlike most polymerases, promotes extension of ssDNA and partial ssDNA (pssDNA) substrates (PubMed:18503084, PubMed:21050863, PubMed:22135286). Also exhibits low-fidelity DNA synthesis, translesion synthesis and lyase activity, and it is implicated in interstrand-cross-link repair, base excision repair and DNA end-joining (PubMed:14576298, PubMed:18503084, PubMed:19188258, PubMed:24648516). Involved in somatic hypermutation of immunoglobulin genes, a process that requires the activity of DNA polymerases to ultimately introduce mutations at both A/T and C/G base pairs (By similarity).By similarity8 Publications

Caution

Was wrongly named DNA polymerase eta (POLH) somne authors (Ref. 4). This protein corresponds to DNA polymerase theta (POLQ) and should not be confused with DNA polymerase eta (POLH) (AC Q9Y253).Curated

Catalytic activityi

Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).2 Publications

Kineticsi

  1. KM=1.095 µM for dATP:T1 Publication
  2. KM=0.622 µM for dATP: abasic site1 Publication
  3. KM=3.08 µM for dGTP: no template1 Publication

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi115 – 122ATPPROSITE-ProRule annotation8

    GO - Molecular functioni

    • 5'-deoxyribose-5-phosphate lyase activity Source: UniProtKB
    • ATP binding Source: UniProtKB-KW
    • chromatin binding Source: UniProtKB
    • damaged DNA binding Source: ProtInc
    • DNA-directed DNA polymerase activity Source: UniProtKB
    • identical protein binding Source: IntAct
    • single-stranded DNA-dependent ATPase activity Source: UniProtKB
    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the complete GO annotation on QuickGO ...

    Keywordsi

    Molecular functionDNA-directed DNA polymerase, Nucleotidyltransferase, Transferase
    Biological processDNA damage, DNA repair
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiR-HSA-5685939 HDR through MMEJ (alt-NHEJ)

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA polymerase theta2 PublicationsImported (EC:2.7.7.72 Publications)
    Alternative name(s):
    DNA polymerase eta1 Publication
    Gene namesi
    Name:POLQ2 PublicationsImported
    Synonyms:POLH1 Publication
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome 3

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000051341.13
    HGNCiHGNC:9186 POLQ
    MIMi604419 gene
    neXtProtiNX_O75417

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Chromosome, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Breast cancer (BC)3 Publications
    The gene represented in this entry may be involved in disease pathogenesis.
    Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
    See also OMIM:114480

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi2540 – 2541DE → AA: Abolishes DNA polymerase activity. 2 Publications2

    Organism-specific databases

    DisGeNETi10721
    MIMi114480 phenotype
    OpenTargetsiENSG00000051341
    PharmGKBiPA33506

    Chemistry databases

    ChEMBLiCHEMBL6025

    Polymorphism and mutation databases

    BioMutaiPOLQ

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00001012791 – 2590DNA polymerase thetaAdd BLAST2590

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei990N6-acetyllysineCombined sources1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    EPDiO75417
    MaxQBiO75417
    PaxDbiO75417
    PeptideAtlasiO75417
    PRIDEiO75417
    ProteomicsDBi49988
    49989 [O75417-2]

    PTM databases

    iPTMnetiO75417
    PhosphoSitePlusiO75417

    Expressioni

    Tissue specificityi

    Highly expressed in testis.1 Publication

    Gene expression databases

    BgeeiENSG00000051341 Expressed in 99 organ(s), highest expression level in secondary oocyte
    CleanExiHS_POLH
    HS_POLQ
    ExpressionAtlasiO75417 baseline and differential
    GenevisibleiO75417 HS

    Organism-specific databases

    HPAiHPA048931
    HPA053359

    Interactioni

    Subunit structurei

    Homomultimer; forms dimers and multimers (PubMed:25643323). Interacts with RAD51 (PubMed:25642963). Interacts with ORC2 and ORC4 (PubMed:24989122).3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    RAD51Q066093EBI-16141065,EBI-297202

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    BioGridi115946, 2 interactors
    DIPiDIP-61500N
    IntActiO75417, 2 interactors
    STRINGi9606.ENSP00000264233

    Structurei

    Secondary structure

    12590
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliO75417
    SMRiO75417
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini102 – 286Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST185
    Domaini321 – 554Helicase C-terminalPROSITE-ProRule annotationAdd BLAST234

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni847 – 894Interaction with RAD511 PublicationAdd BLAST48
    Regioni2142 – 2177Loop 11 PublicationAdd BLAST36
    Regioni2257 – 2322Loop 22 PublicationsAdd BLAST66
    Regioni2491 – 2535Loop 31 PublicationAdd BLAST45

    Coiled coil

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Coiled coili1655 – 1716Sequence analysisAdd BLAST62

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Motifi216 – 219DEAH box4

    Domaini

    The loop 2 region is involved in the binding of the 2 ends of resected double-strand breaks and homomultimerization.1 Publication

    Sequence similaritiesi

    Belongs to the DNA polymerase type-A family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiKOG0950 Eukaryota
    COG0749 LUCA
    COG1204 LUCA
    GeneTreeiENSGT00640000091272
    HOGENOMiHOG000146444
    HOVERGENiHBG005525
    InParanoidiO75417
    KOiK02349
    PhylomeDBiO75417
    TreeFamiTF105018

    Family and domain databases

    CDDicd00079 HELICc, 1 hit
    Gene3Di3.30.420.10, 1 hit
    InterProiView protein in InterPro
    IPR011545 DEAD/DEAH_box_helicase_dom
    IPR019760 DNA-dir_DNA_pol_A_CS
    IPR001098 DNA-dir_DNA_pol_A_palm_dom
    IPR002298 DNA_polymerase_A
    IPR014001 Helicase_ATP-bd
    IPR001650 Helicase_C
    IPR027417 P-loop_NTPase
    IPR012337 RNaseH-like_sf
    IPR036397 RNaseH_sf
    PANTHERiPTHR10133 PTHR10133, 1 hit
    PfamiView protein in Pfam
    PF00270 DEAD, 1 hit
    PF00476 DNA_pol_A, 1 hit
    PF00271 Helicase_C, 1 hit
    PRINTSiPR00868 DNAPOLI
    SMARTiView protein in SMART
    SM00487 DEXDc, 1 hit
    SM00490 HELICc, 1 hit
    SM00482 POLAc, 1 hit
    SUPFAMiSSF52540 SSF52540, 3 hits
    SSF53098 SSF53098, 1 hit
    PROSITEiView protein in PROSITE
    PS00447 DNA_POLYMERASE_A, 1 hit
    PS51192 HELICASE_ATP_BIND_1, 1 hit
    PS51194 HELICASE_CTER, 1 hit

    Sequences (2+)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: O75417-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MNLLRRSGKR RRSESGSDSF SGSGGDSSAS PQFLSGSVLS PPPGLGRCLK 
            60         70         80         90        100
    AAAAGECKPT VPDYERDKLL LANWGLPKAV LEKYHSFGVK KMFEWQAECL 
           110        120        130        140        150
    LLGQVLEGKN LVYSAPTSAG KTLVAELLIL KRVLEMRKKA LFILPFVSVA 
           160        170        180        190        200
    KEKKYYLQSL FQEVGIKVDG YMGSTSPSRH FSSLDIAVCT IERANGLINR 
           210        220        230        240        250
    LIEENKMDLL GMVVVDELHM LGDSHRGYLL ELLLTKICYI TRKSASCQAD 
           260        270        280        290        300
    LASSLSNAVQ IVGMSATLPN LELVASWLNA ELYHTDFRPV PLLESVKVGN 
           310        320        330        340        350
    SIYDSSMKLV REFEPMLQVK GDEDHVVSLC YETICDNHSV LLFCPSKKWC 
           360        370        380        390        400
    EKLADIIARE FYNLHHQAEG LVKPSECPPV ILEQKELLEV MDQLRRLPSG 
           410        420        430        440        450
    LDSVLQKTVP WGVAFHHAGL TFEERDIIEG AFRQGLIRVL AATSTLSSGV 
           460        470        480        490        500
    NLPARRVIIR TPIFGGRPLD ILTYKQMVGR AGRKGVDTVG ESILICKNSE 
           510        520        530        540        550
    KSKGIALLQG SLKPVRSCLQ RREGEEVTGS MIRAILEIIV GGVASTSQDM 
           560        570        580        590        600
    HTYAACTFLA ASMKEGKQGI QRNQESVQLG AIEACVMWLL ENEFIQSTEA 
           610        620        630        640        650
    SDGTEGKVYH PTHLGSATLS SSLSPADTLD IFADLQRAMK GFVLENDLHI 
           660        670        680        690        700
    LYLVTPMFED WTTIDWYRFF CLWEKLPTSM KRVAELVGVE EGFLARCVKG 
           710        720        730        740        750
    KVVARTERQH RQMAIHKRFF TSLVLLDLIS EVPLREINQK YGCNRGQIQS 
           760        770        780        790        800
    LQQSAAVYAG MITVFSNRLG WHNMELLLSQ FQKRLTFGIQ RELCDLVRVS 
           810        820        830        840        850
    LLNAQRARVL YASGFHTVAD LARANIVEVE VILKNAVPFK SARKAVDEEE 
           860        870        880        890        900
    EAVEERRNMR TIWVTGRKGL TEREAAALIV EEARMILQQD LVEMGVQWNP 
           910        920        930        940        950
    CALLHSSTCS LTHSESEVKE HTFISQTKSS YKKLTSKNKS NTIFSDSYIK 
           960        970        980        990       1000
    HSPNIVQDLN KSREHTSSFN CNFQNGNQEH QTCSIFRARK RASLDINKEK 
          1010       1020       1030       1040       1050
    PGASQNEGKT SDKKVVQTFS QKTKKAPLNF NSEKMSRSFR SWKRRKHLKR 
          1060       1070       1080       1090       1100
    SRDSSPLKDS GACRIHLQGQ TLSNPSLCED PFTLDEKKTE FRNSGPFAKN 
          1110       1120       1130       1140       1150
    VSLSGKEKDN KTSFPLQIKQ NCSWNITLTN DNFVEHIVTG SQSKNVTCQA 
          1160       1170       1180       1190       1200
    TSVVSEKGRG VAVEAEKINE VLIQNGSKNQ NVYMKHHDIH PINQYLRKQS 
          1210       1220       1230       1240       1250
    HEQTSTITKQ KNIIERQMPC EAVSSYINRD SNVTINCERI KLNTEENKPS 
          1260       1270       1280       1290       1300
    HFQALGDDIS RTVIPSEVLP SAGAFSKSEG QHENFLNISR LQEKTGTYTT 
          1310       1320       1330       1340       1350
    NKTKNNHVSD LGLVLCDFED SFYLDTQSEK IIQQMATENA KLGAKDTNLA 
          1360       1370       1380       1390       1400
    AGIMQKSLVQ QNSMNSFQKE CHIPFPAEQH PLGATKIDHL DLKTVGTMKQ 
          1410       1420       1430       1440       1450
    SSDSHGVDIL TPESPIFHSP ILLEENGLFL KKNEVSVTDS QLNSFLQGYQ 
          1460       1470       1480       1490       1500
    TQETVKPVIL LIPQKRTPTG VEGECLPVPE TSLNMSDSLL FDSFSDDYLV 
          1510       1520       1530       1540       1550
    KEQLPDMQMK EPLPSEVTSN HFSDSLCLQE DLIKKSNVNE NQDTHQQLTC 
          1560       1570       1580       1590       1600
    SNDESIIFSE MDSVQMVEAL DNVDIFPVQE KNHTVVSPRA LELSDPVLDE 
          1610       1620       1630       1640       1650
    HHQGDQDGGD QDERAEKSKL TGTRQNHSFI WSGASFDLSP GLQRILDKVS 
          1660       1670       1680       1690       1700
    SPLENEKLKS MTINFSSLNR KNTELNEEQE VISNLETKQV QGISFSSNNE 
          1710       1720       1730       1740       1750
    VKSKIEMLEN NANHDETSSL LPRKESNIVD DNGLIPPTPI PTSASKLTFP 
          1760       1770       1780       1790       1800
    GILETPVNPW KTNNVLQPGE SYLFGSPSDI KNHDLSPGSR NGFKDNSPIS 
          1810       1820       1830       1840       1850
    DTSFSLQLSQ DGLQLTPASS SSESLSIIDV ASDQNLFQTF IKEWRCKKRF 
          1860       1870       1880       1890       1900
    SISLACEKIR SLTSSKTATI GSRFKQASSP QEIPIRDDGF PIKGCDDTLV 
          1910       1920       1930       1940       1950
    VGLAVCWGGR DAYYFSLQKE QKHSEISASL VPPSLDPSLT LKDRMWYLQS 
          1960       1970       1980       1990       2000
    CLRKESDKEC SVVIYDFIQS YKILLLSCGI SLEQSYEDPK VACWLLDPDS 
          2010       2020       2030       2040       2050
    QEPTLHSIVT SFLPHELPLL EGMETSQGIQ SLGLNAGSEH SGRYRASVES 
          2060       2070       2080       2090       2100
    ILIFNSMNQL NSLLQKENLQ DVFRKVEMPS QYCLALLELN GIGFSTAECE 
          2110       2120       2130       2140       2150
    SQKHIMQAKL DAIETQAYQL AGHSFSFTSS DDIAEVLFLE LKLPPNREMK 
          2160       2170       2180       2190       2200
    NQGSKKTLGS TRRGIDNGRK LRLGRQFSTS KDVLNKLKAL HPLPGLILEW 
          2210       2220       2230       2240       2250
    RRITNAITKV VFPLQREKCL NPFLGMERIY PVSQSHTATG RITFTEPNIQ 
          2260       2270       2280       2290       2300
    NVPRDFEIKM PTLVGESPPS QAVGKGLLPM GRGKYKKGFS VNPRCQAQME 
          2310       2320       2330       2340       2350
    ERAADRGMPF SISMRHAFVP FPGGSILAAD YSQLELRILA HLSHDRRLIQ 
          2360       2370       2380       2390       2400
    VLNTGADVFR SIAAEWKMIE PESVGDDLRQ QAKQICYGII YGMGAKSLGE 
          2410       2420       2430       2440       2450
    QMGIKENDAA CYIDSFKSRY TGINQFMTET VKNCKRDGFV QTILGRRRYL 
          2460       2470       2480       2490       2500
    PGIKDNNPYR KAHAERQAIN TIVQGSAADI VKIATVNIQK QLETFHSTFK 
          2510       2520       2530       2540       2550
    SHGHREGMLQ SDQTGLSRKR KLQGMFCPIR GGFFILQLHD ELLYEVAEED 
          2560       2570       2580       2590
    VVQVAQIVKN EMESAVKLSV KLKVKVKIGA SWGELKDFDV
    Length:2,590
    Mass (Da):289,619
    Last modified:March 8, 2011 - v2
    Checksum:iF5550BED2DAD8013
    GO
    Isoform 2 (identifier: O75417-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-828: Missing.
         829-840: VEVILKNAVPFK → MNSFLSFPISLC

    Show »
    Length:1,762
    Mass (Da):197,541
    Checksum:iACA2EA21B2B69C15
    GO

    Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    A0A087WXL3A0A087WXL3_HUMAN
    DNA polymerase theta
    POLQ
    		2,725Annotation score:

    Sequence cautioni

    The sequence AAD05272 differs from that shown. Reason: Frameshift at position 1754.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti66R → I in AAR08421 (PubMed:14576298).Curated1
    Sequence conflicti982T → R in AAR08421 (PubMed:14576298).Curated1
    Sequence conflicti2013L → F in AAD05272 (Ref. 4) Curated1
    Sequence conflicti2513Q → R in AAC33565 (PubMed:10395804).Curated1
    Sequence conflicti2513Q → R in AAR08421 (PubMed:14576298).Curated1
    Sequence conflicti2547A → V in AAC33565 (PubMed:10395804).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0557071056P → L. Corresponds to variant dbSNP:rs34778629Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0407471 – 828Missing in isoform 2. 1 PublicationAdd BLAST828
    Alternative sequenceiVSP_040748829 – 840VEVIL…AVPFK → MNSFLSFPISLC in isoform 2. 1 PublicationAdd BLAST12

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AF052573 mRNA Translation: AAC33565.1
    AY338826 mRNA Translation: AAR08421.2
    AC069239 Genomic DNA No translation available.
    AC079841 Genomic DNA No translation available.
    AF043628 mRNA Translation: AAD05272.1 Frameshift.
    CCDSiCCDS33833.1 [O75417-1]
    RefSeqiNP_955452.3, NM_199420.3 [O75417-1]
    UniGeneiHs.241517

    Genome annotation databases

    EnsembliENST00000264233; ENSP00000264233; ENSG00000051341 [O75417-1]
    GeneIDi10721
    KEGGihsa:10721
    UCSCiuc003eee.5 human [O75417-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AF052573 mRNA Translation: AAC33565.1
    AY338826 mRNA Translation: AAR08421.2
    AC069239 Genomic DNA No translation available.
    AC079841 Genomic DNA No translation available.
    AF043628 mRNA Translation: AAD05272.1 Frameshift.
    CCDSiCCDS33833.1 [O75417-1]
    RefSeqiNP_955452.3, NM_199420.3 [O75417-1]
    UniGeneiHs.241517

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    4X0PX-ray3.91A/B/C/D1792-2590[»]
    4X0QX-ray3.90A/B1819-2590[»]
    5A9FX-ray3.20A67-894[»]
    5A9JX-ray3.55A/B/C/D1-894[»]
    5AGAX-ray2.90A67-894[»]
    ProteinModelPortaliO75417
    SMRiO75417
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi115946, 2 interactors
    DIPiDIP-61500N
    IntActiO75417, 2 interactors
    STRINGi9606.ENSP00000264233

    Chemistry databases

    ChEMBLiCHEMBL6025

    PTM databases

    iPTMnetiO75417
    PhosphoSitePlusiO75417

    Polymorphism and mutation databases

    BioMutaiPOLQ

    Proteomic databases

    EPDiO75417
    MaxQBiO75417
    PaxDbiO75417
    PeptideAtlasiO75417
    PRIDEiO75417
    ProteomicsDBi49988
    49989 [O75417-2]

    Protocols and materials databases

    DNASUi10721
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000264233; ENSP00000264233; ENSG00000051341 [O75417-1]
    GeneIDi10721
    KEGGihsa:10721
    UCSCiuc003eee.5 human [O75417-1]

    Organism-specific databases

    CTDi10721
    DisGeNETi10721
    EuPathDBiHostDB:ENSG00000051341.13
    GeneCardsiPOLQ
    H-InvDBiHIX0030706
    HGNCiHGNC:9186 POLQ
    HPAiHPA048931
    HPA053359
    MIMi114480 phenotype
    604419 gene
    neXtProtiNX_O75417
    OpenTargetsiENSG00000051341
    PharmGKBiPA33506
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0950 Eukaryota
    COG0749 LUCA
    COG1204 LUCA
    GeneTreeiENSGT00640000091272
    HOGENOMiHOG000146444
    HOVERGENiHBG005525
    InParanoidiO75417
    KOiK02349
    PhylomeDBiO75417
    TreeFamiTF105018

    Enzyme and pathway databases

    ReactomeiR-HSA-5685939 HDR through MMEJ (alt-NHEJ)

    Miscellaneous databases

    ChiTaRSiPOLQ human
    GeneWikiiPOLQ
    GenomeRNAii10721
    PROiPR:O75417
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000051341 Expressed in 99 organ(s), highest expression level in secondary oocyte
    CleanExiHS_POLH
    HS_POLQ
    ExpressionAtlasiO75417 baseline and differential
    GenevisibleiO75417 HS

    Family and domain databases

    CDDicd00079 HELICc, 1 hit
    Gene3Di3.30.420.10, 1 hit
    InterProiView protein in InterPro
    IPR011545 DEAD/DEAH_box_helicase_dom
    IPR019760 DNA-dir_DNA_pol_A_CS
    IPR001098 DNA-dir_DNA_pol_A_palm_dom
    IPR002298 DNA_polymerase_A
    IPR014001 Helicase_ATP-bd
    IPR001650 Helicase_C
    IPR027417 P-loop_NTPase
    IPR012337 RNaseH-like_sf
    IPR036397 RNaseH_sf
    PANTHERiPTHR10133 PTHR10133, 1 hit
    PfamiView protein in Pfam
    PF00270 DEAD, 1 hit
    PF00476 DNA_pol_A, 1 hit
    PF00271 Helicase_C, 1 hit
    PRINTSiPR00868 DNAPOLI
    SMARTiView protein in SMART
    SM00487 DEXDc, 1 hit
    SM00490 HELICc, 1 hit
    SM00482 POLAc, 1 hit
    SUPFAMiSSF52540 SSF52540, 3 hits
    SSF53098 SSF53098, 1 hit
    PROSITEiView protein in PROSITE
    PS00447 DNA_POLYMERASE_A, 1 hit
    PS51192 HELICASE_ATP_BIND_1, 1 hit
    PS51194 HELICASE_CTER, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiDPOLQ_HUMAN
    AccessioniPrimary (citable) accession number: O75417
    Secondary accession number(s): O95160, Q6VMB5
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: March 8, 2011
    Last modified: September 12, 2018
    This is version 138 of the entry and version 2 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    5. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    6. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
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