AlphaFold predicted structure
PRF1 · P14222
Mean pLDDT
90.7/ 100
Very high
555 residues
Confidence breakdown
- Very high(≥ 90)77%
- Confident(70–90)16%
- Low(50–70)6%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PRF1
Chr 10q22.1perforin 1
- Aliases:
- PFP, P1, HPLH2
- MANE:
- ENST00000441259.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies for rare disease
BIALLELIC, autosomal or pseudoautosomalHaemophagocytic syndrome with absent perforin expression
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalAutoinflammatory disorders
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Familial hemophagocytic lymphohistiocytosis
0.83aplastic anemia
0.65lymphoma, non-Hodgkin, familial
0.56lymphoid neoplasm
0.52hereditary disease
0.52autoinflammatory syndrome
0.52lymphoid leukemia
0.51lymphoma
0.48hereditary hemophagocytic lymphohistiocytosis
0.38cutaneous melanoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Perforin-1
Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells (PubMed:20889983, PubMed:21037563, PubMed:24558045, PubMed:9058810, PubMed:9164947). Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease (PubMed:9058810). Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores (PubMed:20889983, PubMed:21037563). Promotes cytolysis and apoptosis of target cells by mediating the passage and uptake of cytotoxic granzymes (PubMed:20038786, PubMed:20225066, PubMed:24558045, PubMed:32299851). Facilitates the delivery of cationic cargo protein, while anionic or neural proteins are not delivered efficiently (PubMed:24558045). Perforin pores allow the release of mature caspase-7 (CASP7) into the extracellular milieu (By similarity)
Diseases associated with PRF1
Curated MONDO disease pages that list PRF1 among their top associated genes.