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UniProt functional annotation for Q9H611 | ||
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| UniProt code: Q9H611. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. Inhibits telomere elongation, de novo telomere formation and telomere addition to DSBs via catalytic inhibition of telomerase. Reduces the processivity of telomerase by displacing active telomerase from DNA ends. Releases telomerase by unwinding the short telomerase RNA/telomeric DNA hybrid that is the intermediate in the telomerase reaction. Possesses an intrinsic strand annealing activity. {ECO:0000255|HAMAP-Rule:MF_03176, ECO:0000269|PubMed:16522649, ECO:0000269|PubMed:17172855, ECO:0000269|PubMed:17827721, ECO:0000269|PubMed:18835853, ECO:0000269|PubMed:19700773, ECO:0000269|PubMed:20524933, ECO:0000269|PubMed:23657261}. |
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| Catalytic activity: | |
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence={ECO:0000255|HAMAP-Rule:MF_03176, ECO:0000269|PubMed:17827721}; |
| Cofactor: | |
Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000255|HAMAP-Rule:MF_03176, ECO:0000269|PubMed:16522649}; |
| Biophysicochemical properties: | |
Kinetic parameters: KM=0.17 mM for ATP {ECO:0000269|PubMed:18835853}; |
| Subunit: | |
Monomer. Interacts with telomerase. {ECO:0000255|HAMAP- Rule:MF_03176, ECO:0000269|PubMed:17172855, ECO:0000269|PubMed:18835853}. |
| Subcellular location: | |
Nucleus {ECO:0000255|HAMAP-Rule:MF_03176, ECO:0000269|PubMed:16522649, ECO:0000269|PubMed:17172855, ECO:0000269|PubMed:17827721}. |
| Subcellular location: | |
[Isoform 4]: Mitochondrion {ECO:0000255|HAMAP- Rule:MF_03176, ECO:0000269|PubMed:23275553}. |
| Tissue specificity: | |
Weak ubiquitous expression. |
| Induction: | |
Tightly cell cycle regulated and expressed in late S/G2 phase. {ECO:0000269|PubMed:17172855}. |
| Domain: | |
The PIF1 N-terminal (PINT) domain enhances the interaction with ssDNA through intrinsic binding activity, it also harbors DNA strand- annealing activity. |
| Miscellaneous: | |
[Isoform 4]: Produced by alternative initiation of isoform 1. {ECO:0000305}. |
| Similarity: | |
Belongs to the helicase family. PIF1 subfamily. {ECO:0000255|HAMAP-Rule:MF_03176}. |
Annotations taken from UniProtKB at the EBI.