O75417 (DPOLQ_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 95.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: DNA polymerase theta EC=2.7.7.7 Alternative name(s): DNA polymerase eta | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 2590 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. |
Ontologies
| Keywords | |
|---|---|
| Biological process | DNA damage DNA repair |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | DNA-directed DNA polymerase Nucleotidyltransferase Transferase |
| PTM | Acetylation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | DNA repair Traceable author statement Ref.1. Source: ProtInc DNA replicationInferred from electronic annotation. Source: InterPro |
| Cellular_component | nucleoplasm Traceable author statement Ref.1. Source: ProtInc |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent helicase activityInferred from electronic annotation. Source: InterPro DNA-directed DNA polymerase activityInferred from direct assay Ref.2. Source: UniProtKB damaged DNA bindingTraceable author statement Ref.1. Source: ProtInc single-stranded DNA-dependent ATPase activityInferred from direct assay Ref.2. Source: UniProtKB |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2590 | 2590 | DNA polymerase theta | PRO_0000101279 | |||||
Regions | |||||||||
| Domain | 102 – 286 | 185 | Helicase ATP-binding | ||||||
| Domain | 321 – 554 | 234 | Helicase C-terminal | ||||||
| Nucleotide binding | 115 – 122 | 8 | ATP By similarity | ||||||
| Coiled coil | 1655 – 1716 | 62 | Potential | ||||||
| Motif | 216 – 219 | 4 | DEAH box | ||||||
Amino acid modifications | |||||||||
| Modified residue | 990 | 1 | N6-acetyllysine Ref.5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 828 | 828 | Missing in isoform 2. | VSP_040747 | |||||
| Alternative sequence | 829 – 840 | 12 | VEVIL…AVPFK → MNSFLSFPISLC in isoform 2. | VSP_040748 | |||||
| Natural variant | 1056 | 1 | P → L. Corresponds to variant rs34778629 [ dbSNP | Ensembl ]. | VAR_055707 | |||||
Experimental info | |||||||||
| Sequence conflict | 66 | 1 | R → I in AAR08421. Ref.2 | ||||||
| Sequence conflict | 982 | 1 | T → R in AAR08421. Ref.2 | ||||||
| Sequence conflict | 2013 | 1 | L → F in AAD05272. Ref.4 | ||||||
| Sequence conflict | 2513 | 1 | Q → R in AAC33565. Ref.1 | ||||||
| Sequence conflict | 2513 | 1 | Q → R in AAR08421. Ref.2 | ||||||
| Sequence conflict | 2547 | 1 | A → V in AAC33565. Ref.1 | ||||||
Sequences
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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. 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. |
| IPI | IPI00794779. IPI01012356. |
| RefSeq | NP_955452.3. NM_199420.3. |
| UniGene | Hs.241517. |
3D structure databases | |
| ProteinModelPortal | O75417. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000264233. |
PTM databases | |
| PhosphoSite | O75417. |
Proteomic databases | |
| PaxDb | O75417. |
| PRIDE | O75417. |
Protocols and materials databases | |
| DNASU | 10721. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000264233; ENSP00000264233; ENSG00000051341. |
| GeneID | 10721. |
| KEGG | hsa:10721. |
| UCSC | uc003eed.3. human. uc003eee.4. human. |
Organism-specific databases | |
| CTD | 10721. |
| GeneCards | GC03M121150. |
| H-InvDB | HIX0030706. |
| HGNC | HGNC:9186. POLQ. |
| HPA | HPA048931. |
| MIM | 604419. gene. |
| neXtProt | NX_O75417. |
| PharmGKB | PA33506. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1204. |
| HOGENOM | HOG000146444. |
| HOVERGEN | HBG005525. |
| KO | K02349. |
| OrthoDB | EOG42RD6C. |
Gene expression databases | |
| Bgee | O75417. |
| CleanEx | HS_POLH. HS_POLQ. |
| Genevestigator | O75417. |
| GermOnline | ENSG00000051341. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019760. 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] |
| Pfam | PF00270. DEAD. 1 hit. PF00476. DNA_pol_A. 1 hit. PF00271. Helicase_C. 1 hit. [Graphical view] |
| PRINTS | PR00868. DNAPOLI. |
| SMART | SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. SM00482. POLAc. 1 hit. [Graphical view] |
| SUPFAM | SSF53098. RNaseH_fold. 1 hit. |
| PROSITE | PS00447. DNA_POLYMERASE_A. 1 hit. PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChEMBL | CHEMBL6025. |
| GenomeRNAi | 10721. |
| NextBio | 40701. |
| SOURCE | Search... |
Entry information
| Entry name | DPOLQ_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75417 Secondary accession number(s): O95160, Q6VMB5 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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 |

Clusters with
