Aliases for PIF1 Gene
External Ids for PIF1 Gene
Previous HGNC Symbols for PIF1 Gene
Previous GeneCards Identifiers for PIF1 Gene
This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
GeneCards Summary for PIF1 Gene
PIF1 (PIF1 5'-To-3' DNA Helicase) is a Protein Coding gene. Diseases associated with PIF1 include Dyskeratosis Congenita, Autosomal Recessive 5 and Uterine Adnexa Cancer. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and DNA helicase activity.
UniProtKB/Swiss-Prot Summary for PIF1 Gene
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.