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

Gene ID: 208084, updated on 2-Nov-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, Nov 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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