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PIF1 Gene

protein-coding   GIFtS: 50
GCID: GC15M065107

PIF1 5'-To-3' DNA Helicase

(Previous names: chromosome 15 open reading frame 20, PIF1 5'-to-3' DNA helicase...)
(Previous symbol: C15orf20)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PIF1 5'-To-3' DNA Helicase1 2     PIF1 5'-To-3' DNA Helicase Homolog (S. Cerevisiae)1
C15orf201 2 3     ATP-Dependent DNA Helicase PIF12
DNA Repair And Recombination Helicase PIF12 3     Petite Integration Frequency 12
PIF1/RRM3 DNA Helicase-Like Protein2 3     PIF1 5'-To-3' DNA Helicase Homolog2
PIF2 5     EC 3.6.4.123
Chromosome 15 Open Reading Frame 201     EC 3.6.18

External Ids:    HGNC: 262201   Entrez Gene: 801192   Ensembl: ENSG000001404517   OMIM: 6109535   UniProtKB: Q9H6113   

Export aliases for PIF1 gene to outside databases

Previous GC identifers: GC15M060839 GC15M058207 GC15M062686 GC15U900236 GC15M062895 GC15M041934


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tonsillitis, and malaria. GO annotations related to this gene include ATP-dependent 5'-3' DNA helicase activity and magnesium ion binding.

UniProtKB/Swiss-Prot: PIF1_HUMAN, Q9H611
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIF1 gene promoter:
         E2F-3a   p53   E2F-2   AP-2gamma   c-Ets-1   PPAR-alpha   AREB6   E2F-1   E2F   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIF1 promoter sequence
   Search Chromatin IP Primers for PIF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.31   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.1

PIF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIF1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M065107:  view genomic region     (about GC identifiers)

Start:
65,107,831 bp from pter      End:
65,117,867 bp from pter
Size:
10,037 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PIF1_HUMAN, Q9H611 (See protein sequence)
Recommended Name: ATP-dependent DNA helicase PIF1  
Size: 641 amino acids; 69799 Da
Cofactor: Magnesium
Subunit: Monomer. Interacts with telomerase
Secondary accessions: B2RPL7 Q1W5B6 Q330H5 Q33E24
Alternative splicing, Alternative initiation: 4 isoforms:  Q9H611-1   Q9H611-2   Q9H611-3   Q9H611-4   (Produced by alternative initiation of isoform 1)

Explore the universe of human proteins at neXtProt for PIF1: NX_Q9H611

Explore proteomics data for PIF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PIF1 (Q9H611) (see all 6)
     ATRLCTH  PFGGIQL  LDCVEISL  CGDFLQLPPVT 


    See PIF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001273425.1  NP_001273426.1  NP_001273428.1  NP_079325.2  

    ENSEMBL proteins: 
     ENSP00000268043   ENSP00000328174   ENSP00000452792  

    PIF1 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for PIF1

    PIF1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR010285 DNA_helicase_pif1_like
     IPR027417 P-loop_NTPase
     IPR003840 DNA_helicase

    Graphical View of Domain Structure for InterPro Entry Q9H611

    ProtoNet protein and cluster: 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
    Similarity: Belongs to the helicase family. PIF1 subfamily


    PIF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIF1_HUMAN, Q9H611
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=0.17 mM for ATP;
    Induction: Tightly cell cycle regulated and expressed in late S/G2 phase

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA16522649
    GO:0003678DNA helicase activity ----
    GO:0004386helicase activity ----
    GO:0005524ATP binding IDA16522649
    GO:0010521telomerase inhibitor activity IEA--
         
    PIF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PIF1:
     Decreased nuclei size in G2M 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pif1):
     cellular  normal 

    PIF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pif1tm1Leah for PIF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PIF1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PIF1

    miRNA
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    miRTarBase miRNAs that target PIF1:
    hsa-mir-215-5p (MIRT024811), hsa-mir-192-5p (MIRT026839)

    Block miRNA regulation of human, mouse, rat PIF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIF1 (see all 9):
    hsa-miR-485-5p hsa-miR-676 hsa-miR-646 hsa-miR-4287 hsa-miR-942 hsa-miR-1184 hsa-miR-130b* hsa-miR-2355-3p
    SwitchGear 3'UTR luciferase reporter plasmidPIF1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PIF1
    Predesigned siRNA for gene silencing in human, mouse, rat PIF1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for PIF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PIF1 (NM_025049)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIF1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PIF1_HUMAN, Q9H611: Nucleus
    PIF1_HUMAN, Q9H611: Isoform 4: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion2
    chloroplast1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784nuclear chromosome, telomeric region IDA16522649
    GO:0005739mitochondrion IEA--

    PIF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including PIF1: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PIF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PIF1 (Q9H6113 ENSP000002680434) via UniProtKB, MINT, STRING, and/or I2D (see all 182)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERCC2P180743, ENSP000003758094I2D: score=1 STRING: ENSP00000375809
    ERCC4Q928893, ENSP000003105204I2D: score=1 STRING: ENSP00000310520
    HLTFQ145273, ENSP000003089444I2D: score=1 STRING: ENSP00000308944
    LIG4P499173, ENSP000003493934I2D: score=1 STRING: ENSP00000349393
    POLA2Q141813, ENSP000002654654I2D: score=1 STRING: ENSP00000265465
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000002mitochondrial genome maintenance IEA--
    GO:0000723telomere maintenance IEA--
    GO:0006200ATP catabolic process IDA16522649
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--

    PIF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PIF1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PIF1 gene (4 alternative transcripts): 
    NM_001286496.1  NM_001286497.1  NM_001286499.1  NM_025049.3  

    Unigene Cluster for PIF1:

    PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)
    Hs.112160  [show with all ESTs]
    Unigene Representative Sequence: AB185926
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000268043(uc002anr.2 uc002ans.2 uc002ant.2) ENST00000333425
    ENST00000559239(uc010uiq.1) ENST00000559872 ENST00000559522 ENST00000558380
    ENST00000558547 ENST00000560444(uc002anu.3) ENST00000560504
    miRNA
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    Block miRNA regulation of human, mouse, rat PIF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIF1 (see all 9):
    hsa-miR-485-5p hsa-miR-676 hsa-miR-646 hsa-miR-4287 hsa-miR-942 hsa-miR-1184 hsa-miR-130b* hsa-miR-2355-3p
    SwitchGear 3'UTR luciferase reporter plasmidPIF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PIF1
    Clone
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    GenScript: all cDNA clones in your preferred vector: PIF1 (NM_025049)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIF1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PIF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIF1
      QuantiTect SYBR Green Assays in human, mouse, rat PIF1
      QuantiFast Probe-based Assays in human, mouse, rat PIF1

    Additional mRNA sequence: 

    AB185926.1 AB185927.1 AF108138.1 AK026345.1 AY498716.1 BC018978.2 BC033254.1 BC137503.1 
    BC137504.1 DQ437529.1 EU084033.1 

    6 DOTS entries:

    DT.100742237  DT.312339  DT.75109371  DT.97823271  DT.95259868  DT.102823193 

    Selected AceView cDNA sequences (see all 52):

    AI655645 BE387734 BQ958807 AW004048 BG231673 BC033254 AW590310 AI745642 
    BQ061682 BQ065272 AA743647 BI116535 NM_025049 BX109827 AI333976 AK026345 
    AA642924 AA278838 AI652391 AI696210 BE280562 AI654749 CF137126 AW170361 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PIF1    About this scheme

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


    ECgene alternative splicing isoforms for PIF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PIF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAAGCCTC
    PIF1 Expression
    About this image


    PIF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    PIF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.112160

    UniProtKB/Swiss-Prot: PIF1_HUMAN, Q9H611
    Tissue specificity: Weak ubiquitous expression

        Pathway & Disease-focused RT2 Profiler PCR Array including PIF1: 
              Telomeres & Telomerase in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIF1
    QuantiTect SYBR Green Assays in human, mouse, rat PIF1
    QuantiFast Probe-based Assays in human, mouse, rat PIF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PIF1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pif11 , 5 PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)1, 5 84.86(n)1
    86.96(a)1
      9 (35.40 cM)5
    2080841  NM_172453.31  NP_766041.11 
     655871605 
    chicken
    (Gallus gallus)
    Aves PIF11 PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) 66.43(n)
    64.75(a)
      429092  XM_426648.4  XP_426648.3 
    lizard
    (Anolis carolinensis)
    Reptilia PIF16
    PIF1 5'-to-3' DNA helicase
    56(a)
    1 ↔ 1
    4(107009481-107023317)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244142 Xenopus laevis transcribed sequence with weak similarity more 72.18(n)    BU912019.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pif11 PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) 61.79(n)
    61.73(a)
      326729  NM_198807.1  NP_942102.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32381 , 3 CG32381 50(a)3
    52.06(n)1
    47.56(a)1
      23F33
    335671  NM_134938.21  NP_608782.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pif-11 pif-1 47.12(n)
    42.76(a)
      171665  NM_058373.5  NP_490774.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PIF1(YML061C)4 DNA helicase; exists in a nuclear form that acts as more   --   13(151532-148953) 854941  NP_013650.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIF1 gene
    1 SIMAP similar gene for PIF1 using alignment to 1 protein entry:     PIF1_HUMAN:
    C15orf20

    PIF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PIF1 (see all 417)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406943311,2
    C--65107578(+) GGTCTC/TGAACT 1 -- ds50010--------
    rs1117522431,2
    C,F--65107606(+) CACCCA/GCCTCG 1 -- ds50015Minor allele frequency- G:0.44NA WA CSA 9
    rs1454861861,2
    C--65107651(+) ATCATA/GCCCGG 1 -- ds50010--------
    rs558415241,2
    C,F--65107655(+) TGCCCG/AGTGAC 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs563032481,2
    C,F--65107658(+) CCGGTG/AACAAT 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs172083011,2
    C,F,H--65107759(+) AGCCAC/TTGTGG 1 -- ds500128Minor allele frequency- T:0.21NA NS EA WA CSA 2907
    rs727447941,2
    C,F--65107778(+) AACACG/ATGTGT 1 -- ds50015Minor allele frequency- A:0.09WA NA CSA 244
    rs752994921,2
    C,F--65107795(+) GCACAA/GGTGAG 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs749355061,2
    C,F--65107804(+) AGAGGG/TGGAGA 1 -- ds50015Minor allele frequency- T:0.16NA CSA WA EA 362
    rs1384344931,2
    --65107808(+) GGGGAA/GAGAGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PIF1 (65107831 - 65117867 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PIF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv904307CNV Loss21882294
    dgv31n68CNV Loss17160897

    Human Gene Mutation Database (HGMD): PIF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIF1
    DNA2.0 Custom Variant and Variant Library Synthesis for PIF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610953    OMIM disorders: --

    6 diseases for PIF1:    
    About MalaCards
    tonsillitis    malaria    cerebritis    thyroiditis
    endotheliitis    prostatitis


    PIF1 for disorders           About GeneDecksing


    Export disorders for PIF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PIF1 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with PIF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human Pif1 helicase, a potential Escherichia coli RecD homologue, inhibits telomerase activity. (PubMed id 16522649)1, 2, 3 Zhang D.-H.... Zhou J.-Q. (Nucleic Acids Res. 2006)
    2. Human Pif1 helicase unwinds synthetic DNA structures resembling stalled DNA replication forks. (PubMed id 19700773)1, 2, 9 George T....Sanders C.M. (Nucleic Acids Res. 2009)
    3. Mitochondrial and nuclear localization of human Pif1 helicase. (PubMed id 17827721)1, 2, 9 Futami K....Furuichi Y. (amp 2007)
    4. Pif1 family helicases suppress genome instability at G-quadruplex motifs. (PubMed id 23657261)1, 2 Paeschke K....Zakian V.A. (Nature 2013)
    5. Alternative translation initiation augments the human mitochondrial proteome. (PubMed id 23275553)1, 2 Kazak L.... Holt I.J. (Nucleic Acids Res. 2013)
    6. Human Pif1 helicase is a G-quadruplex DNA-binding protein with G-quadruplex DNA-unwinding activity. (PubMed id 20524933)1, 2 Sanders C.M. (Biochem. J. 2010)
    7. Biochemical analysis of human PIF1 helicase and functions of its N- terminal domain. (PubMed id 18835853)1, 2 Gu Y.... Kamiya K. (Nucleic Acids Res. 2008)
    8. Human PIF helicase is cell cycle regulated and associates with telomerase. (PubMed id 17172855)1, 2 Mateyak M.K. and Zakian V.A. (Cell Cycle 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Pif1p helicase, a catalytic inhibitor of telomerase in yeast. (PubMed id 10926538)1, 3 Zhou J....Zakian V.A. (Science 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80119 HGNC: 26220 AceView: C15orf20 Ensembl:ENSG00000140451 euGenes: HUgn80119
    ECgene: PIF1 H-InvDB: PIF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PIF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PIF1 gene:
    Search GeneIP for patents involving PIF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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