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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HPF1
histone PARylation factor 1
Chromosome 4 · 4q33
NCBI Gene: 54969Ensembl: ENSG00000056050.8HGNC: HGNC:26051UniProt: Q9NWY4
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatin bindingprotein bindinghistone bindingnucleusmetabolic syndromeschizophreniaBlackfan-Diamond anemiaAlpha-thalassemia - intellectual disability syndrome linked to chromosome 16
✦AI Summary

HPF1 (histone PARylation factor 1) is a critical cofactor that regulates PARP1 and PARP2 activity during DNA damage response by switching their amino acid specificity from acidic residues to serine 1. HPF1 forms a composite active site with PARP1/2, providing the catalytic base Glu284 that enables serine ADP-ribosylation of target proteins including histones 2. This serine ADP-ribosylation promotes chr4 decompaction and recruitment of repair factors essential for DNA damage repair 3. Notably, HPF1 exhibits dual regulatory functions: it stimulates PARP1/2 autoPARylation and histone heteroPARylation within specific concentration ranges, while simultaneously restricting polymerase activity by promoting hydrolysis, resulting in shorter poly-ADP-ribose chains and increased free ADP-ribose production 42. Interestingly, HPF1 is largely dispensable for single-strand break repair, as HPF1-deficient cells maintain robust poly-ADP-ribosylation and normal repair capacity 5. HPF1 also facilitates tyrosine ADP-ribosylation, expanding PARP substrate specificity beyond serine residues 6. The protein operates through proteome-wide regulation of serine ADP-ribosylation, primarily as mono-ADP-ribosylation, with consistent targeting motifs independent of HPF1 itself 1.

Sources cited
1
HPF1 regulates serine ADP-ribosylation proteome-wide and switches PARP amino acid specificity
PMID: 34625544
2
HPF1 provides catalytic base Glu284 and switches PARP1 from polymerase to hydrolase activity
PMID: 33683197
3
HPF1-mediated serine ADP-ribosylation promotes chromatin remodeling and repair factor recruitment
PMID: 34340015
4
HPF1 has dual function stimulating PARP activity while limiting poly-ADP-ribose chain length
PMID: 34732825
5
HPF1 is dispensable for single-strand break repair despite reduced serine ADP-ribosylation
PMID: 39162207
6
HPF1 facilitates tyrosine ADP-ribosylation by PARP enzymes
PMID: 39342999
Disease Associationsⓘ20
metabolic syndromeOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.06Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
autism spectrum disorderOpen Targets
0.04Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Rh deficiency syndromeOpen Targets
0.04Suggestive
PyropoikilocytosisOpen Targets
0.04Suggestive
pyropoikilocytosis, hereditaryOpen Targets
0.04Suggestive
X-linked dyserythropoetic anemia with abnormal platelets and neutropeniaOpen Targets
0.03Suggestive
thrombocytopenia with congenital dyserythropoietic anemiaOpen Targets
0.03Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.03Suggestive
renal osteodystrophyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARP1Protein interaction100%PARGProtein interaction100%ADPRSProtein interaction98%H2BC11Protein interaction95%PARP2Protein interaction84%H2BC12Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Heart
89%
Bone Marrow
72%
Ovary
59%
Liver
51%
Lung
39%
Gene Interaction Network
Click a node to explore
HPF1PARP1PARGADPRSH2BC11PARP2H2BC12
PROTEIN STRUCTURE
Preparing viewer…
PDB6M3G · 1.57 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.59–1.32]
RankingsWhere HPF1 stands among ~20K protein-coding genes
  • #8,689of 20,598
    Most Researched51
  • #13,875of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedHPF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The regulatory landscape of the human HPF1- and ARH3-dependent ADP-ribosylome.
PMID: 34625544
Nat Commun · 2021
1.00
2
PARP enzyme de novo synthesis of protein-free poly(ADP-ribose).
PMID: 39536748
Mol Cell · 2024
0.90
3
Dispensability of HPF1 for cellular removal of DNA single-strand breaks.
PMID: 39162207
Nucleic Acids Res · 2024
0.80
4
Serine ADP-ribosylation in DNA-damage response regulation.
PMID: 34340015
Curr Opin Genet Dev · 2021
0.70
5
Dual function of HPF1 in the modulation of PARP1 and PARP2 activities.
PMID: 34732825
Commun Biol · 2021
0.60