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Aliases for PIF1 Gene

Aliases for PIF1 Gene

  • PIF1 5'-To-3' DNA Helicase 2
  • PIF1 5-To-3 DNA Helicase 2 3 5
  • DNA Repair And Recombination Helicase PIF1 3 4
  • PIF1/RRM3 DNA Helicase-Like Protein 3 4
  • C15orf20 3 4
  • 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
  • Petite Integration Frequency 1 3
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • PIF 3

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 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

Enhancers for PIF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PIF1 Gene

Chromosome:
15
Start:
64,815,630 bp from pter
End:
64,827,154 bp from pter
Size:
11,525 bases
Orientation:
Minus strand

Genomic View for PIF1 Gene

Genes around PIF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for PIF1 Gene

Gene Families 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 :
  • The PIF1 N-terminal (PINT) domain enhances the interaction with ssDNA through intrinsic binding activity, it also harbors DNA strand-annealing activity.
  • Belongs to the helicase family. PIF1 subfamily.
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

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 IEA --
GO:0004386 helicase activity IEA --
GO:0017116 single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA 16522649
GO:0042162 telomeric DNA binding IDA 16522649
genes like me logo Genes that share ontologies with PIF1: view

Phenotypes for PIF1 Gene

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

Animal Models for PIF1 Gene

MGI Knock Outs for PIF1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PIF1

miRNA for PIF1 Gene

miRTarBase miRNAs that target PIF1

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
mitochondrion 4
cytosol 2
chloroplast 1

No data available for Gene Ontology (GO) - Cellular Components for PIF1 Gene

Pathways & Interactions for PIF1 Gene

SuperPathways for PIF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IBA --
GO:0006281 DNA repair IEA --
GO:0032204 regulation of telomere maintenance IDA 16522649
genes like me logo Genes that share ontologies with PIF1: view

No data available for Pathways by source and SIGNOR curated interactions for PIF1 Gene

Drugs & Compounds for PIF1 Gene

(1) Drugs for PIF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for PIF1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PIF1: view

Transcripts for PIF1 Gene

Unigene Clusters for PIF1 Gene

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

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

Protein differential expression in normal tissues from HIPED for PIF1 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PIF1: view

Protein tissue co-expression partners for PIF1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia PIF1 35
  • 99.62 (n)
  • 99.43 (a)
PIF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pif1 35
  • 83.79 (n)
  • 86.96 (a)
oppossum
(Monodelphis domestica)
Mammalia PIF1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIF1 36
  • 69 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia pif1 35
  • 59.66 (n)
  • 60.17 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24414 35
zebrafish
(Danio rerio)
Actinopterygii pif1 35
  • 61.79 (n)
  • 61.73 (a)
pif1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3238 37
  • 50 (a)
CG3238 35
  • 52.06 (n)
  • 47.56 (a)
CG3238 36
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007775 35
  • 50.03 (n)
  • 48.05 (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
RRM3 36
  • 27 (a)
OneToMany
PIF1 38
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

(1) 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
rs17802279 - 64,816,305(+) AGAGG(A/T)TTGGG intron-variant, nc-transcript-variant, reference, missense
rs17457 -- 64,815,788(+) GGGTG(G/T)TTGTT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs5024311 -- 64,817,835(+) CCAGC(G/T)TGGGC intron-variant
rs5024312 -- 64,817,840(+) GTGGG(C/T)GACAG intron-variant
rs6494498 -- 64,816,453(+) ACCCC(C/G/T)AAAGG 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

Variation tolerance for PIF1 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIF1 Gene

Human Gene Mutation Database (HGMD)
PIF1

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

Disorders for PIF1 Gene

Relevant External Links for PIF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIF1

No disorders were found for PIF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIF1 Gene

Publications for PIF1 Gene

  1. 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 67
  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 23
  3. Mitochondrial and nuclear localization of human Pif1 helicase. (PMID: 17827721) Futami K. … Furuichi Y. (Biol. Pharm. Bull. 2007) 3 23
  4. Pif1p helicase, a catalytic inhibitor of telomerase in yeast. (PMID: 10926538) Zhou J. … Zakian V.A. (Science 2000) 2 3
  5. A parallel quadruplex DNA is bound tightly but unfolded slowly by pif1 helicase. (PMID: 25589786) Byrd A.K. … Raney K.D. (J. Biol. Chem. 2015) 3

Products for PIF1 Gene

Sources for PIF1 Gene

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