PIF1
ATP-dependent DNA helicase PIF1
Also known as: C15orf20, FLJ22692, PIF1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H611
- Gene
- PIF1
- Ensembl
- ENSG00000140451
- Chromosome
- 15
- Canonical length
- 641 aa
- Protein class
- Enzymes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
641 residues, UniProt reviewed canonical sequence.
>Q9H611|PIF1
1 MLSGIEAAAG EYEDSELRCR VAVEELSPGG QPRRRQALRT AELSLGRNER RELMLRLQAP
61 GPAGRPRCFP LRAARLFTRF AEAGRSTLRL PAHDTPGAGA VQLLLSDCPP DRLRRFLRTL
121 RLKLAAAPGP GPASARAQLL GPRPRDFVTI SPVQPEERRL RAATRVPDTT LVKRPVEPQA
181 GAEPSTEAPR WPLPVKRLSL PSTKPQLSEE QAAVLRAVLK GQSIFFTGSA GTGKSYLLKR
241 ILGSLPPTGT VATASTGVAA CHIGGTTLHA FAGIGSGQAP LAQCVALAQR PGVRQGWLNC
301 QRLVIDEISM VEADLFDKLE AVARAVRQQN KPFGGIQLII CGDFLQLPPV TKGSQPPRFC
361 FQSKSWKRCV PVTLELTKVW RQADQTFISL LQAVRLGRCS DEVTRQLQAT ASHKVGRDGI
421 VATRLCTHQD DVALTNERRL QELPGKVHRF EAMDSNPELA STLDAQCPVS QLLQLKLGAQ
481 VMLVKNLSVS RGLVNGARGV VVGFEAEGRG LPQVRFLCGV TEVIHADRWT VQATGGQLLS
541 RQQLPLQLAW AMSIHKSQGM TLDCVEISLG RVFASGQAYV ALSRARSLQG LRVLDFDPMA
601 VRCDPRVLHF YATLRRGRSL SLESPDDDEA ASDQENMDPI LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PIF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 4.6 nTPM
Expression across tissuesHPA
Tissue
- spleen: 4.6 nTPM
- lymph node: 4.3 nTPM
- bone marrow: 3.6 nTPM
- thymus: 3.3 nTPM
- esophagus: 3 nTPM
- tonsil: 3 nTPM
Single-cell type
- early spermatids: 30 nCPM
- monocyte progenitors: 21 nCPM
- plasma cells: 20 nCPM
- megakaryocyte progenitors: 13 nCPM
- enteric transient amplifying cells: 13 nCPM
- esophageal basal cells: 12 nCPM
Immune cell
- T-reg: 0.9 nTPM
- gdT-cell: 0.3 nTPM
- memory CD8 T-cell: 0.2 nTPM
- MAIT T-cell: 0.1 nTPM
- memory B-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
Brain region
- medulla oblongata: 1.6 nTPM
- cerebral cortex: 1.4 nTPM
- hypothalamus: 1.4 nTPM
- pons: 1 nTPM
- midbrain: 0.9 nTPM
- spinal cord: 0.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.33
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.31
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA recombination
- DNA repair
- negative regulation of telomere maintenance via telomerase
- telomere maintenance via telomerase
- protein-DNA-RNA complex disassembly
Molecular functions
- 5'-3' DNA helicase activity
- ATP binding
- ATP hydrolysis activity
- G-quadruplex DNA binding
- G-quadruplex unwinding activity
- magnesium ion binding
- single-stranded DNA helicase activity
- telomerase inhibitor activity
- telomeric DNA binding
- 5'-3' DNA/RNA helicase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- P-loop containing nucleoside triphosphate hydrolase
- PIF1/LRR1, pleckstrin homology domain
- LRR1 pleckstrin homology domain
- DNA helicase Pif1-like, DEAD-box helicase domain
- DNA helicase PIF1/RRM3/pfh1
- DNA helicase Pif1-like, 2B domain
- PIF1 DNA helicase
- PIF1-like helicase
- DNA helicase Pif1, 2B domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PIF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PIF1 as an antibody target. Whether an autoantibody or antibody against PIF1 could matter depends on whether native PIF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PIF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PIF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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