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Aliases for PIF1 Gene

Aliases for PIF1 Gene

  • PIF1 5'-To-3' DNA Helicase 2
  • DNA Repair And Recombination Helicase PIF1 3 4
  • PIF1/RRM3 DNA Helicase-Like Protein 3 4
  • PIF1 5-To-3 DNA Helicase 2 3
  • C15orf20 3 4
  • PIF 3 6
  • PIF1 5-To-3 DNA Helicase Homolog (S. Cerevisiae) 2
  • Chromosome 15 Open Reading Frame 20 2
  • PIF1 5-To-3 DNA Helicase Homolog 3
  • ATP-Dependent DNA Helicase PIF1 3
  • Petite Integration Frequency 1 3
  • EC 3.6.4.12 4
  • EC 3.6.1 63

External Ids for PIF1 Gene

Previous HGNC Symbols for PIF1 Gene

  • C15orf20

Previous GeneCards Identifiers for PIF1 Gene

  • GC15M060839
  • GC15M058207
  • GC15M062686
  • GC15U900236
  • GC15M062895
  • GC15M065107
  • GC15M041934

Summaries for PIF1 Gene

Entrez Gene Summary 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. GO annotations related to this gene include magnesium ion binding and ATP-dependent 5-3 DNA helicase activity.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIF1 Gene

Genomics for PIF1 Gene

Regulatory Elements for PIF1 Gene

Genomic Location for PIF1 Gene

Start:
64,815,630 bp from pter
End:
64,825,668 bp from pter
Size:
10,039 bases
Orientation:
Minus strand

Genomic View for PIF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIF1 Gene

Proteins for PIF1 Gene

  • Protein details for PIF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H611-PIF1_HUMAN
    Recommended name:
    ATP-dependent DNA helicase PIF1
    Protein Accession:
    Q9H611
    Secondary Accessions:
    • B2RPL7
    • Q1W5B6
    • Q330H5
    • Q33E24

    Protein attributes for PIF1 Gene

    Size:
    641 amino acids
    Molecular mass:
    69799 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer. Interacts with telomerase.

    Alternative splice isoforms for PIF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIF1 Gene

Proteomics data for PIF1 Gene at MOPED

Selected DME Specific Peptides for PIF1 Gene

Post-translational modifications for PIF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIF1 Gene

Domains for PIF1 Gene

Protein Domains for PIF1 Gene

Suggested Antigen Peptide Sequences for PIF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H611

UniProtKB/Swiss-Prot:

PIF1_HUMAN :
  • Q9H611
Domain:
  • The PIF1 N-terminal (PINT) domain enhances the interaction with ssDNA through intrinsic binding activity, it also harbors DNA strand-annealing activity
Family:
  • Belongs to the helicase family. PIF1 subfamily.
genes like me logo Genes that share domains with PIF1: view

No data available for Gene Families for PIF1 Gene

Function for PIF1 Gene

Molecular function for PIF1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.17 mM for ATP {ECO:0000269 PubMed:18835853};
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Tightly cell cycle regulated and expressed in late S/G2 phase.

Enzyme Numbers (IUBMB) for PIF1 Gene

Gene Ontology (GO) - Molecular Function for PIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 16522649
GO:0003678 DNA helicase activity --
GO:0004386 helicase activity --
GO:0005524 ATP binding IDA 16522649
GO:0010521 telomerase inhibitor activity IEA --
genes like me logo Genes that share ontologies with PIF1: view

Phenotypes for PIF1 Gene

MGI mutant phenotypes for PIF1:
inferred from 1 alleles
GenomeRNAi human phenotypes for PIF1:
genes like me logo Genes that share phenotypes with PIF1: view

Animal Models for PIF1 Gene

MGI Knock Outs for PIF1:

Animal Model Products

CRISPR Products

miRNA for PIF1 Gene

miRTarBase miRNAs that target PIF1

No data available for Transcription Factor Targeting and HOMER Transcription for PIF1 Gene

Localization for PIF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIF1 Gene

Nucleus.
Isoform 4: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIF1 Gene COMPARTMENTS Subcellular localization image for PIF1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for PIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 16522649
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PIF1: view

Pathways for PIF1 Gene

SuperPathways for PIF1 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance IEA --
GO:0000723 telomere maintenance IEA --
GO:0006200 obsolete ATP catabolic process --
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with PIF1: view

No data available for Pathways by source for PIF1 Gene

Transcripts for PIF1 Gene

Unigene Clusters for PIF1 Gene

PIF1 5-to-3 DNA helicase homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIF1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PIF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIF1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - -
SP2: -
SP3: - - - -
SP4: - -
SP5:

Relevant External Links for PIF1 Gene

GeneLoc Exon Structure for
PIF1
ECgene alternative splicing isoforms for
PIF1

Expression for PIF1 Gene

mRNA expression in normal human tissues for PIF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PIF1 Gene

SOURCE GeneReport for Unigene cluster for PIF1 Gene Hs.112160

mRNA Expression by UniProt/SwissProt for PIF1 Gene

Q9H611-PIF1_HUMAN
Tissue specificity: Weak ubiquitous expression
genes like me logo Genes that share expressions with PIF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PIF1 Gene

Orthologs for PIF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PIF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIF1 35
  • 99.62 (n)
  • 99.43 (a)
PIF1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIF1 35
  • 89.01 (n)
  • 90.68 (a)
PIF1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIF1 35
  • 88.11 (n)
  • 89.22 (a)
PIF1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pif1 35
  • 84.86 (n)
  • 86.96 (a)
Pif1 16
Pif1 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIF1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIF1 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pif1 35
  • 83.79 (n)
  • 86.96 (a)
chicken
(Gallus gallus)
Aves PIF1 35
  • 66.43 (n)
  • 64.75 (a)
PIF1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIF1 36
  • 56 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24414 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pif1 35
  • 59.66 (n)
  • 60.17 (a)
zebrafish
(Danio rerio)
Actinopterygii pif1 35
  • 61.79 (n)
  • 61.73 (a)
pif1 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007775 35
  • 50.03 (n)
  • 48.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3238 35
  • 52.06 (n)
  • 47.56 (a)
CG3238 36
  • 43 (a)
OneToOne
CG3238 37
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea pif-1 35
  • 47.12 (n)
  • 42.76 (a)
pif-1 36
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PIF1 36
  • 25 (a)
OneToMany
PIF1 38
RRM3 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for PIF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIF1 Gene

ENSEMBL:
Gene Tree for PIF1 (if available)
TreeFam:
Gene Tree for PIF1 (if available)

Paralogs for PIF1 Gene

Selected SIMAP similar genes for PIF1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PIF1: view

No data available for Paralogs for PIF1 Gene

Variants for PIF1 Gene

Sequence variations from dbSNP and Humsavar for PIF1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs17457 -- 64,815,788(+) GGGTG(G/T)TTGTT utr-variant-3-prime, reference, missense
rs1872592 -- 64,821,294(-) CCCCA(C/T)GCTCC intron-variant
rs2013913 -- 64,819,414(-) AGAAT(C/T)GCTTG intron-variant
rs2414855 -- 64,823,441(+) CGAGG(C/T)TTCAC intron-variant
rs3057887 -- 64,820,770(+) GCACT(-/CA)CAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIF1 Gene

Variant ID Type Subtype PubMed ID
dgv31n68 CNV Loss 17160897
nsv904307 CNV Loss 21882294

Relevant External Links for PIF1 Gene

HapMap Linkage Disequilibrium report
PIF1
Human Gene Mutation Database (HGMD)
PIF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIF1 Gene

Disorders for PIF1 Gene

No disorders were found for PIF1 Gene.

No data available for UniProtKB/Swiss-Prot for PIF1 Gene

Publications for PIF1 Gene

  1. Mitochondrial and nuclear localization of human Pif1 helicase. (PMID: 17827721) Futami K. … Furuichi Y. (Biol. Pharm. Bull. 2007) 3 4 23
  2. Human Pif1 helicase unwinds synthetic DNA structures resembling stalled DNA replication forks. (PMID: 19700773) George T. … Sanders C.M. (Nucleic Acids Res. 2009) 3 4 23
  3. The human Pif1 helicase, a potential Escherichia coli RecD homologue, inhibits telomerase activity. (PMID: 16522649) Zhang D.-H. … Zhou J.-Q. (Nucleic Acids Res. 2006) 2 3 4
  4. Alternative translation initiation augments the human mitochondrial proteome. (PMID: 23275553) Kazak L. … Holt I.J. (Nucleic Acids Res. 2013) 3 4
  5. Pif1 family helicases suppress genome instability at G-quadruplex motifs. (PMID: 23657261) Paeschke K. … Zakian V.A. (Nature 2013) 3 4

Products for PIF1 Gene

Sources for PIF1 Gene

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