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    Pif1 PIF1 5'-to-3' DNA helicase [ Mus musculus (house mouse) ]

    Gene ID: 208084, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Pif1provided by MGI
    Official Full Name
    PIF1 5'-to-3' DNA helicaseprovided by MGI
    Primary source
    MGI:MGI:2143057
    See related
    Ensembl:ENSMUSG00000041064 AllianceGenome:MGI:2143057
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    4631410M14
    Summary
    Predicted to enable several functions, including ATP binding activity; helicase activity; and magnesium ion binding activity. Predicted to be involved in DNA duplex unwinding; DNA replication; and negative regulation of telomere maintenance via telomerase. Predicted to be located in chromosome, telomeric region. Predicted to be active in replication fork. Is expressed in several structures, including body cavity or lining; integumental system; thymus; ventricular layer; and vertebral axis musculature. Orthologous to human PIF1 (PIF1 5'-to-3' DNA helicase). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 6.1), thymus adult (RPKM 5.9) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pif1 in Genome Data Viewer
    Location:
    9 C; 9 35.4 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (65494432..65503249)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (65587150..65595967)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_24454 Neighboring gene predicted gene, 17749 Neighboring gene STARR-positive B cell enhancer ABC_E2896 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:65389334-65389517 Neighboring gene STARR-positive B cell enhancer ABC_E2897 Neighboring gene STARR-positive B cell enhancer ABC_E9331 Neighboring gene pleckstrin homology domain containing, family O member 2 Neighboring gene STARR-seq mESC enhancer starr_24458 Neighboring gene STARR-positive B cell enhancer ABC_E892 Neighboring gene STARR-positive B cell enhancer ABC_E2898 Neighboring gene STARR-seq mESC enhancer starr_24463 Neighboring gene predicted pseudogene 10144 Neighboring gene STARR-seq mESC enhancer starr_24464 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:65469333-65469516 Neighboring gene STARR-seq mESC enhancer starr_24467 Neighboring gene RNA binding protein with multiple splicing 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance. Belmonte FR, et al. PLoS One, 2019. PMID 31136580, Free PMC Article
    2. Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice. Bannwarth S, et al. Mitochondrion, 2016 Sep. PMID 26923168, Free PMC Article
    3. PIF1 disruption or NBS1 hypomorphism does not affect chromosome healing or fusion resulting from double-strand breaks near telomeres in murine embryonic stem cells. Reynolds GE, et al. DNA Repair (Amst), 2011 Nov 10. PMID 21945094, Free PMC Article
    4. Alternative translation initiation augments the human mitochondrial proteome. Kazak L, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275553, Free PMC Article
    5. Murine Pif1 interacts with telomerase and is dispensable for telomere function in vivo. Snow BE, et al. Mol Cell Biol, 2007 Feb. PMID 17130244, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. They also support a role for Pif1 in weight gain resistance and liver metabolic dysregulation during nutrient stress.
      Title: Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance.
    2. pif1-/- animals develop a mitochondrial myopathy with respiratory chain deficiency.
      Title: Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
    3. murine cells have evolved mechanisms to ensure the functional redundancy of Pif1 or Nbs1 in the regulation of chromosome healing.
      Title: PIF1 disruption or NBS1 hypomorphism does not affect chromosome healing or fusion resulting from double-strand breaks near telomeres in murine embryonic stem cells.
    4. Murine telomere homeostasis or genetic stability does not depend on mPif1.
      Title: Murine Pif1 interacts with telomerase and is dispensable for telomere function in vivo.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 5'-3' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5'-3' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 5'-3' DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 5'-3' DNA/RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 5'-3' DNA/RNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables G-quadruplex DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables single-stranded DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables telomerase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables telomeric DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial genome maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of telomere maintenance via telomerase IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein-DNA-RNA complex disassembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in replication fork IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP-dependent DNA helicase PIF1
    Names
    DNA helicase-like protein
    DNA repair and recombination helicase PIF1
    PIF1 5'-to-3' DNA helicase homolog
    PIF1 homolog
    Pif1/Rrm3 DNA helicase-like protein
    NP_001344455.2
    NP_001344456.2
    NP_001408440.1
    NP_766041.2
    XP_006510984.1
    XP_011240992.1
    XP_030100025.1
    XP_030100026.1
    XP_030100027.1
    XP_030100028.1
    XP_030100029.1
    XP_030100030.1
    XP_030100031.1
    XP_036010659.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001357526.2 → NP_001344455.2  ATP-dependent DNA helicase PIF1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AC135108
      Consensus CDS
      CCDS23295.1
      UniProtKB/TrEMBL
      A0A6Q6QXN1
      Related
      ENSMUSP00000122060.3, ENSMUST00000134538.9
      Conserved Domains (2) summary
      cd18809
      Location:544 → 589
      SF1_C_RecD; C-terminal helicase domain of RecD family helicases
      cl28899
      Location:202 → 500
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    2. NM_001357527.2 → NP_001344456.2  ATP-dependent DNA helicase PIF1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AC135108
      Consensus CDS
      CCDS23295.1
      UniProtKB/TrEMBL
      A0A6Q6QXN1
      Related
      ENSMUSP00000117494.3, ENSMUST00000131483.3
      Conserved Domains (2) summary
      cd18809
      Location:544 → 589
      SF1_C_RecD; C-terminal helicase domain of RecD family helicases
      cl28899
      Location:202 → 500
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    3. NM_001421511.1 → NP_001408440.1  ATP-dependent DNA helicase PIF1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC135108
      UniProtKB/Swiss-Prot
      Q80SX8, Q80W44, Q8BIZ3, Q8BJ72

    4. NM_172453.5 → NP_766041.2  ATP-dependent DNA helicase PIF1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest protein-coding transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC135108
      Consensus CDS
      CCDS23295.1
      UniProtKB/TrEMBL
      A0A6Q6QXN1
      Related
      ENSMUSP00000049046.7, ENSMUST00000047099.13
      Conserved Domains (2) summary
      cd18809
      Location:544 → 589
      SF1_C_RecD; C-terminal helicase domain of RecD family helicases
      cl28899
      Location:202 → 500
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    RNA

    1. NR_151702.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC135108
      Related
      ENSMUST00000154970.9

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      65494432..65503249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244168.1 → XP_030100028.1  ATP-dependent DNA helicase PIF1 isoform X1

      Conserved Domains (1) summary
      cl28899
      Location:215 → 513
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    2. XM_030244171.1 → XP_030100031.1  ATP-dependent DNA helicase PIF1 isoform X2

      Conserved Domains (1) summary
      cl28899
      Location:202 → 500
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    3. XM_030244165.2 → XP_030100025.1  ATP-dependent DNA helicase PIF1 isoform X1

      Conserved Domains (1) summary
      cl28899
      Location:215 → 513
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    4. XM_030244170.2 → XP_030100030.1  ATP-dependent DNA helicase PIF1 isoform X2

      Conserved Domains (1) summary
      cl28899
      Location:202 → 500
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    5. XM_030244166.2 → XP_030100026.1  ATP-dependent DNA helicase PIF1 isoform X1

      Conserved Domains (1) summary
      cl28899
      Location:215 → 513
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    6. XM_030244167.2 → XP_030100027.1  ATP-dependent DNA helicase PIF1 isoform X1

      Conserved Domains (1) summary
      cl28899
      Location:215 → 513
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    7. XM_030244169.1 → XP_030100029.1  ATP-dependent DNA helicase PIF1 isoform X1

      Conserved Domains (1) summary
      cl28899
      Location:215 → 513
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    8. XM_011242690.4 → XP_011240992.1  ATP-dependent DNA helicase PIF1 isoform X4

      UniProtKB/TrEMBL
      D6RFC6
      Conserved Domains (1) summary
      cd18037
      Location:219 → 390
      DEXSc_Pif1_like; DEAD-box helicase domain of Pif1

    9. XM_006510921.5 → XP_006510984.1  ATP-dependent DNA helicase PIF1 isoform X6

      UniProtKB/TrEMBL
      D6RFC6
      Conserved Domains (1) summary
      cd18037
      Location:219 → 390
      DEXSc_Pif1_like; DEAD-box helicase domain of Pif1

    10. XM_036154766.1 → XP_036010659.1  ATP-dependent DNA helicase PIF1 isoform X5

      UniProtKB/TrEMBL
      D6RFC6
      Conserved Domains (1) summary
      cd18037
      Location:219 → 390
      DEXSc_Pif1_like; DEAD-box helicase domain of Pif1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80SX8.2 GenPept UniProtKB/Swiss-Prot:Q80SX8

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