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O75417 (DPOLQ_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA polymerase theta

EC=2.7.7.7
Alternative name(s):
DNA polymerase eta
Gene names
Name:POLQ
Synonyms:POLH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2590 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Has a DNA polymerase activity on nicked double-stranded DNA and on a singly primed DNA template. The enzyme activity is resistant to aphidicolin, and inhibited by dideoxynucleotides. Exhibites a single-stranded DNA-dependent ATPase activity. Could be involved in the repair of interstrand cross-links. Ref.2

Catalytic activity

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

Tissue specificity

Highly expressed in testis. Ref.2

Sequence similarities

Belongs to the DNA polymerase type-A family.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Sequence caution

The sequence AAD05272.1 differs from that shown. Reason: Frameshift at position 1754.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75417-1)

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.
Isoform 2 (identifier: O75417-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 25902590DNA polymerase theta
PRO_0000101279

Regions

Domain102 – 286185Helicase ATP-binding
Domain321 – 554234Helicase C-terminal
Nucleotide binding115 – 1228ATP By similarity
Coiled coil1655 – 171662 Potential
Motif216 – 2194DEAH box

Amino acid modifications

Modified residue9901N6-acetyllysine Ref.5

Natural variations

Alternative sequence1 – 828828Missing in isoform 2.
VSP_040747
Alternative sequence829 – 84012VEVIL…AVPFK → MNSFLSFPISLC in isoform 2.
VSP_040748
Natural variant10561P → L.
Corresponds to variant rs34778629 [ dbSNP | Ensembl ].
VAR_055707

Experimental info

Sequence conflict661R → I in AAR08421. Ref.2
Sequence conflict9821T → R in AAR08421. Ref.2
Sequence conflict20131L → F in AAD05272. Ref.4
Sequence conflict25131Q → R in AAC33565. Ref.1
Sequence conflict25131Q → R in AAR08421. Ref.2
Sequence conflict25471A → V in AAC33565. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 8, 2011. Version 2.
Checksum: F5550BED2DAD8013

FASTA2,590289,619
        10         20         30         40         50         60 
MNLLRRSGKR RRSESGSDSF SGSGGDSSAS PQFLSGSVLS PPPGLGRCLK AAAAGECKPT 

        70         80         90        100        110        120 
VPDYERDKLL LANWGLPKAV LEKYHSFGVK KMFEWQAECL LLGQVLEGKN LVYSAPTSAG 

       130        140        150        160        170        180 
KTLVAELLIL KRVLEMRKKA LFILPFVSVA KEKKYYLQSL FQEVGIKVDG YMGSTSPSRH 

       190        200        210        220        230        240 
FSSLDIAVCT IERANGLINR LIEENKMDLL GMVVVDELHM LGDSHRGYLL ELLLTKICYI 

       250        260        270        280        290        300 
TRKSASCQAD LASSLSNAVQ IVGMSATLPN LELVASWLNA ELYHTDFRPV PLLESVKVGN 

       310        320        330        340        350        360 
SIYDSSMKLV REFEPMLQVK GDEDHVVSLC YETICDNHSV LLFCPSKKWC EKLADIIARE 

       370        380        390        400        410        420 
FYNLHHQAEG LVKPSECPPV ILEQKELLEV MDQLRRLPSG LDSVLQKTVP WGVAFHHAGL 

       430        440        450        460        470        480 
TFEERDIIEG AFRQGLIRVL AATSTLSSGV NLPARRVIIR TPIFGGRPLD ILTYKQMVGR 

       490        500        510        520        530        540 
AGRKGVDTVG ESILICKNSE KSKGIALLQG SLKPVRSCLQ RREGEEVTGS MIRAILEIIV 

       550        560        570        580        590        600 
GGVASTSQDM HTYAACTFLA ASMKEGKQGI QRNQESVQLG AIEACVMWLL ENEFIQSTEA 

       610        620        630        640        650        660 
SDGTEGKVYH PTHLGSATLS SSLSPADTLD IFADLQRAMK GFVLENDLHI LYLVTPMFED 

       670        680        690        700        710        720 
WTTIDWYRFF CLWEKLPTSM KRVAELVGVE EGFLARCVKG KVVARTERQH RQMAIHKRFF 

       730        740        750        760        770        780 
TSLVLLDLIS EVPLREINQK YGCNRGQIQS LQQSAAVYAG MITVFSNRLG WHNMELLLSQ 

       790        800        810        820        830        840 
FQKRLTFGIQ RELCDLVRVS LLNAQRARVL YASGFHTVAD LARANIVEVE VILKNAVPFK 

       850        860        870        880        890        900 
SARKAVDEEE EAVEERRNMR TIWVTGRKGL TEREAAALIV EEARMILQQD LVEMGVQWNP 

       910        920        930        940        950        960 
CALLHSSTCS LTHSESEVKE HTFISQTKSS YKKLTSKNKS NTIFSDSYIK HSPNIVQDLN 

       970        980        990       1000       1010       1020 
KSREHTSSFN CNFQNGNQEH QTCSIFRARK RASLDINKEK PGASQNEGKT SDKKVVQTFS 

      1030       1040       1050       1060       1070       1080 
QKTKKAPLNF NSEKMSRSFR SWKRRKHLKR SRDSSPLKDS GACRIHLQGQ TLSNPSLCED 

      1090       1100       1110       1120       1130       1140 
PFTLDEKKTE FRNSGPFAKN VSLSGKEKDN KTSFPLQIKQ NCSWNITLTN DNFVEHIVTG 

      1150       1160       1170       1180       1190       1200 
SQSKNVTCQA TSVVSEKGRG VAVEAEKINE VLIQNGSKNQ NVYMKHHDIH PINQYLRKQS 

      1210       1220       1230       1240       1250       1260 
HEQTSTITKQ KNIIERQMPC EAVSSYINRD SNVTINCERI KLNTEENKPS HFQALGDDIS 

      1270       1280       1290       1300       1310       1320 
RTVIPSEVLP SAGAFSKSEG QHENFLNISR LQEKTGTYTT NKTKNNHVSD LGLVLCDFED 

      1330       1340       1350       1360       1370       1380 
SFYLDTQSEK IIQQMATENA KLGAKDTNLA AGIMQKSLVQ QNSMNSFQKE CHIPFPAEQH 

      1390       1400       1410       1420       1430       1440 
PLGATKIDHL DLKTVGTMKQ SSDSHGVDIL TPESPIFHSP ILLEENGLFL KKNEVSVTDS 

      1450       1460       1470       1480       1490       1500 
QLNSFLQGYQ TQETVKPVIL LIPQKRTPTG VEGECLPVPE TSLNMSDSLL FDSFSDDYLV 

      1510       1520       1530       1540       1550       1560 
KEQLPDMQMK EPLPSEVTSN HFSDSLCLQE DLIKKSNVNE NQDTHQQLTC SNDESIIFSE 

      1570       1580       1590       1600       1610       1620 
MDSVQMVEAL DNVDIFPVQE KNHTVVSPRA LELSDPVLDE HHQGDQDGGD QDERAEKSKL 

      1630       1640       1650       1660       1670       1680 
TGTRQNHSFI WSGASFDLSP GLQRILDKVS SPLENEKLKS MTINFSSLNR KNTELNEEQE 

      1690       1700       1710       1720       1730       1740 
VISNLETKQV QGISFSSNNE VKSKIEMLEN NANHDETSSL LPRKESNIVD DNGLIPPTPI 

      1750       1760       1770       1780       1790       1800 
PTSASKLTFP GILETPVNPW KTNNVLQPGE SYLFGSPSDI KNHDLSPGSR NGFKDNSPIS 

      1810       1820       1830       1840       1850       1860 
DTSFSLQLSQ DGLQLTPASS SSESLSIIDV ASDQNLFQTF IKEWRCKKRF SISLACEKIR 

      1870       1880       1890       1900       1910       1920 
SLTSSKTATI GSRFKQASSP QEIPIRDDGF PIKGCDDTLV VGLAVCWGGR DAYYFSLQKE 

      1930       1940       1950       1960       1970       1980 
QKHSEISASL VPPSLDPSLT LKDRMWYLQS CLRKESDKEC SVVIYDFIQS YKILLLSCGI 

      1990       2000       2010       2020       2030       2040 
SLEQSYEDPK VACWLLDPDS QEPTLHSIVT SFLPHELPLL EGMETSQGIQ SLGLNAGSEH 

      2050       2060       2070       2080       2090       2100 
SGRYRASVES ILIFNSMNQL NSLLQKENLQ DVFRKVEMPS QYCLALLELN GIGFSTAECE 

      2110       2120       2130       2140       2150       2160 
SQKHIMQAKL DAIETQAYQL AGHSFSFTSS DDIAEVLFLE LKLPPNREMK NQGSKKTLGS 

      2170       2180       2190       2200       2210       2220 
TRRGIDNGRK LRLGRQFSTS KDVLNKLKAL HPLPGLILEW RRITNAITKV VFPLQREKCL 

      2230       2240       2250       2260       2270       2280 
NPFLGMERIY PVSQSHTATG RITFTEPNIQ NVPRDFEIKM PTLVGESPPS QAVGKGLLPM 

      2290       2300       2310       2320       2330       2340 
GRGKYKKGFS VNPRCQAQME ERAADRGMPF SISMRHAFVP FPGGSILAAD YSQLELRILA 

      2350       2360       2370       2380       2390       2400 
HLSHDRRLIQ VLNTGADVFR SIAAEWKMIE PESVGDDLRQ QAKQICYGII YGMGAKSLGE 

      2410       2420       2430       2440       2450       2460 
QMGIKENDAA CYIDSFKSRY TGINQFMTET VKNCKRDGFV QTILGRRRYL PGIKDNNPYR 

      2470       2480       2490       2500       2510       2520 
KAHAERQAIN TIVQGSAADI VKIATVNIQK QLETFHSTFK SHGHREGMLQ SDQTGLSRKR 

      2530       2540       2550       2560       2570       2580 
KLQGMFCPIR GGFFILQLHD ELLYEVAEED VVQVAQIVKN EMESAVKLSV KLKVKVKIGA 

      2590 
SWGELKDFDV 

« Hide

Isoform 2 [UniParc].

Checksum: ACA2EA21B2B69C15
Show »

FASTA1,762197,541

References

« Hide 'large scale' references
[1]"Cloning and chromosomal mapping of the human DNA polymerase theta (POLQ), the eighth human DNA polymerase."
Sharief F.S., Vojta P.J., Ropp P.A., Copeland W.C.
Genomics 59:90-96(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Spleen.
[2]"POLQ (Pol theta), a DNA polymerase and DNA-dependent ATPase in human cells."
Seki M., Marini F., Wood R.D.
Nucleic Acids Res. 31:6117-6126(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
[3]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Catalytic activity of Pol eta, a new human DNA polymerase related to the bacterial DNA polymerase I family and Drosophila Mus308."
Harris P.V., Kaelin C.B., Burtis K.C.
Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1435-2590.
[5]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-990, MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
IPIIPI00794779.
IPI01012356.
RefSeqNP_955452.3. NM_199420.3.
UniGeneHs.241517.

3D structure databases

ProteinModelPortalO75417.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000264233.

PTM databases

PhosphoSiteO75417.

Proteomic databases

PaxDbO75417.
PRIDEO75417.

Protocols and materials databases

DNASU10721.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264233; ENSP00000264233; ENSG00000051341.
GeneID10721.
KEGGhsa:10721.
UCSCuc003eed.3. human.
uc003eee.4. human.

Organism-specific databases

CTD10721.
GeneCardsGC03M121150.
H-InvDBHIX0030706.
HGNCHGNC:9186. POLQ.
HPAHPA048931.
MIM604419. gene.
neXtProtNX_O75417.
PharmGKBPA33506.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1204.
HOGENOMHOG000146444.
HOVERGENHBG005525.
KOK02349.
OrthoDBEOG42RD6C.

Gene expression databases

BgeeO75417.
CleanExHS_POLH.
HS_POLQ.
GenevestigatorO75417.
GermOnlineENSG00000051341. Homo sapiens.

Family and domain databases

InterProIPR019760. DNA-dir_DNA_pol_A_CS.
IPR001098. DNA-dir_DNA_pol_A_palm_dom.
IPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
IPR002298. DNA_polymerase_A.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamPF00270. DEAD. 1 hit.
PF00476. DNA_pol_A. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
PRINTSPR00868. DNAPOLI.
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00482. POLAc. 1 hit.
[Graphical view]
SUPFAMSSF53098. RNaseH_fold. 1 hit.
PROSITEPS00447. DNA_POLYMERASE_A. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChEMBLCHEMBL6025.
GenomeRNAi10721.
NextBio40701.
SOURCESearch...

Entry information

Entry nameDPOLQ_HUMAN
AccessionPrimary (citable) accession number: O75417
Secondary accession number(s): O95160, Q6VMB5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: March 8, 2011
Last modified: April 3, 2013
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families