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Tchem
PRF1
Perforin-1

Protein Summary
Description
Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. 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. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes. This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoprol ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000373209
  • ENSP00000362305
  • ENSG00000180644
  • ENST00000441259
  • ENSP00000398568

Symbol
  • PFP
  • P1
  • PFP
  • HPLH2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cellular component
0.93
biological term
0.92
PubMedID
0.74
tissue sample
0.68
cell type or tissue
0.64


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3269.16   (req: < 5)
Gene RIFs: 155   (req: <= 3)
Antibodies: 539   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3269.16   (req: >= 5)
Gene RIFs: 155   (req: > 3)
Antibodies: 539   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 26
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (7)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
appendicular lean mass
3
2
3
94.3
lymphocyte count
1
1
1
48.9
monocyte count
1
1
1
48.9
body fat percentage
1
1
1
21.2
heel bone mineral density
1
1
1
6.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
appendicular lean mass
3
94.3
lymphocyte count
1
48.9
monocyte count
1
48.9
body fat percentage
1
21.2
heel bone mineral density
1
6.5
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Mouse
MGI:97551
18646
Rat
RGD:708463
50669
Dog
perforin 1
VGNC:44964
489030
Horse
perforin 1
VGNC:21831
100072744
Cow
perforin 1
VGNC:33313
369025
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Dog
perforin 1
Horse
perforin 1
Cow
perforin 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P14222-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (31)
Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
KEGG
Allograft rejection
KEGG
Graft-versus-host disease
KEGG
Viral myocarditis
KEGG
Type I diabetes mellitus
KEGG
Autoimmune thyroid disease
Name
Explore in Pharos
Explore in Source
Allograft rejection
Graft-versus-host disease
Viral myocarditis
Type I diabetes mellitus
Autoimmune thyroid disease
Gene Ontology Terms (20)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
IntAct
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Protein-Protein Interactions (328)
1 – 10 of 328
GZMB
Tchem
Family: Enzyme
Novelty: 0.00052869
Score: 0.999
Data Source: STRINGDB
GZMA
Tbio
Family: Enzyme
Novelty: 0.00322362
Score: 0.996
Data Source: STRINGDB
GNLY
Tbio
Novelty: 0.00183877
Score: 0.953
Data Source: STRINGDB
IL2
Tchem
Novelty: 0.00003129
Score: 0.925
Data Source: STRINGDB
GZMH
Tbio
Family: Enzyme
Novelty: 0.01480634
Score: 0.88
Data Source: STRINGDB
NKG7
Tdark
Novelty: 0.0599879
Score: 0.875
Data Source: STRINGDB
IL2RB
Tclin
Novelty: 0.0050905
Score: 0.859
Data Source: STRINGDB
FASLG
Tbio
Novelty: 0.0003303
Score: 0.859
Data Source: STRINGDB
KLRK1
Tbio
Novelty: 0.0009209
Score: 0.845
Data Source: STRINGDB
IL15
Tbio
Novelty: 0.00049351
Score: 0.844
Data Source: STRINGDB
Publication Statistics
PubMed Score  3269.16

PubMed score by year
PubTator Score  327.91

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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