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 ... See more...

Aliases for PIF1 Gene

Aliases for PIF1 Gene

  • 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
  • ATP-Dependent DNA Helicase PIF1 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 52
  • 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. 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.

Additional gene information for PIF1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIF1 Gene

Genomics for PIF1 Gene

GeneHancer (GH) Regulatory Elements for PIF1 Gene

Promoters and enhancers for PIF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J064822 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.8 1833 5 FOXK2 ZSCAN5C SIN3A USF1 POLR2G SP1 BCLAF1 PHF8 JUND PHB2 PLEKHO2 PIF1 RF00017-1816 RBPMS2 ANKDD1A SPG21
GH15J064828 Enhancer 0.2 Ensembl 500.7 -1.8 -1847 0.4 PIF1 piR-48820-040 RBPMS2 lnc-PIF1-1
GH15J064801 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 13.4 +24.8 24753 2 REST ATF2 MXI1 RBM25 KLF9 NFIC GABPB1 NR2F2 TCF12 RCOR1 RBPMS2 TRIP4 PIF1 MIR1272 MG828730-022 lnc-PLEKHO2-2
GH15J064938 Enhancer 1 Ensembl ENCODE 10.9 -111.2 -111218 1.1 CTBP1 SKI FOXA2 BCL11A FOS CEBPB ZBTB33 JUN NFE2 KLF8 SPG21 PIF1 MIR1272 RBPMS2 ENSG00000249240 PLEKHO2 ENSG00000275332 piR-49029-003 ANKDD1A
GH15J064781 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.4 +44.9 44853 2.2 RFX1 NR2F2 RXRA NR2F6 TBX21 HNF4A ARID1B RFX3 SP1 HDAC1 piR-50444-131 RBPMS2 PIF1 ENSG00000249240 PLEKHO2 RNU6-549P piR-32214-223
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIF1

Top Transcription factor binding sites by QIAGEN in the PIF1 gene promoter:
  • AP-2gamma
  • AREB6
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • p53
  • PPAR-alpha
  • ZIC2

Genomic Locations for PIF1 Gene

Genomic Locations for PIF1 Gene
chr15:64,815,630-64,827,154
(GRCh38/hg38)
Size:
11,525 bases
Orientation:
Minus strand
chr15:65,107,831-65,117,867
(GRCh37/hg19)
Size:
10,037 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.
    Miscellaneous:
    • [Isoform 4]: Produced by alternative initiation of isoform 1.

    Three dimensional structures from OCA and Proteopedia for PIF1 Gene

    Alternative splice isoforms for PIF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIF1 Gene

Selected DME Specific Peptides for PIF1 Gene

Q9H611:
  • ATASTGVAACHIGGTTLH
  • ATRLCTH
  • LDCVEISL
  • CGDFLQLPPVT
  • SGQAYVALSRAR
  • PFGGIQL

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

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PIF1 Gene

Suggested Antigen Peptide Sequences for PIF1 Gene

GenScript: Design optimal peptide antigens:
  • PIF1 DNA helicase transcript variant 1 (B2RPL7_HUMAN)
  • PIF1/RRM3 DNA helicase-like protein (PIF1_HUMAN)
  • DNA helicase homolog (Q9Y645_HUMAN)

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

Enzyme Numbers (IUBMB) for PIF1 Gene

Phenotypes From GWAS Catalog for PIF1 Gene

Gene Ontology (GO) - Molecular Function for PIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 16522649
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with PIF1: view
genes like me logo Genes that share phenotypes with PIF1: view

Animal Models for PIF1 Gene

MGI Knock Outs for PIF1:
  • Pif1 Pif1<tm1Leah>

Animal Model Products

  • Taconic Biosciences Mouse Models for PIF1

CRISPR Products

miRNA for PIF1 Gene

miRTarBase miRNAs that target PIF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIF1

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIF1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005634 nucleus IEA --
GO:0005657 replication fork IBA 21873635
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PIF1: view

Pathways & Interactions for PIF1 Gene

PathCards logo

SuperPathways for PIF1 Gene

No Data Available

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:0006260 DNA replication IBA 21873635
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 and SIGNOR curated interactions for PIF1 Gene

Drugs & Compounds for PIF1 Gene

(3) Drugs for PIF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with PIF1: view

Transcripts for PIF1 Gene

mRNA/cDNA for PIF1 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIF1

Clone 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

Expression for PIF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for PIF1 Gene



Protein tissue co-expression partners for PIF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIF1

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.

Evidence on tissue expression from TISSUES for PIF1 Gene

  • Intestine(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PIF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIF1 31 30
  • 89.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIF1 31 30
  • 88.11 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pif1 17 31 30
  • 84.86 (n)
rat
(Rattus norvegicus)
Mammalia Pif1 30
  • 83.79 (n)
oppossum
(Monodelphis domestica)
Mammalia PIF1 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIF1 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIF1 31 30
  • 66.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIF1 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pif1 30
  • 59.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24414 30
zebrafish
(Danio rerio)
Actinopterygii pif1 31 30
  • 61.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3238 31 32 30
  • 52.06 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007775 30
  • 50.03 (n)
worm
(Caenorhabditis elegans)
Secernentea pif-1 31 30
  • 47.12 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRM3 31
  • 27 (a)
OneToMany
PIF1 33 31
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToOne
Species where no ortholog for PIF1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIF1: view image

Paralogs for PIF1 Gene

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

  • PIF1_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIF1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
735180 Benign: not provided 64,819,124(-) C/G MISSENSE_VARIANT
738044 Benign: not provided 64,822,348(-) C/A SYNONYMOUS_VARIANT
768716 Benign: not provided 64,816,665(-) C/T MISSENSE_VARIANT
776913 Benign: not provided 64,816,333(-) C/G MISSENSE_VARIANT,INTRON_VARIANT
776914 Benign: not provided 64,816,348(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PIF1 Gene

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

Variant ID Type Subtype PubMed ID
dgv31n68 CNV loss 17160897
esv3636745 CNV loss 21293372
nsv569703 CNV loss 21841781

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)

Additional Variant Information for PIF1 Gene

Human Gene Mutation Database (HGMD)
PIF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIF1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PIF1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PIF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PIF1

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

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

Publications for PIF1 Gene

  1. Human Pif1 helicase unwinds synthetic DNA structures resembling stalled DNA replication forks. (PMID: 19700773) George T … Sanders CM (Nucleic acids research 2009) 3 4 23 54
  2. Mitochondrial and nuclear localization of human Pif1 helicase. (PMID: 17827721) Futami K … Furuichi Y (Biological & pharmaceutical bulletin 2007) 3 4 23 54
  3. The human Pif1 helicase, a potential Escherichia coli RecD homologue, inhibits telomerase activity. (PMID: 16522649) Zhang DH … Zhou JQ (Nucleic acids research 2006) 2 3 4 54
  4. Alternative translation initiation augments the human mitochondrial proteome. (PMID: 23275553) Kazak L … Holt IJ (Nucleic acids research 2013) 3 4 54
  5. Pif1 family helicases suppress genome instability at G-quadruplex motifs. (PMID: 23657261) Paeschke K … Zakian VA (Nature 2013) 3 4 54

Products for PIF1 Gene

Sources for PIF1 Gene