PRF1 (perforin 1)

2003-06-01  

Identity

HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
HPLH2,P1,PFP

Other Information

Locus ID:

NCBI: 5551
MIM: 170280
HGNC: 9360
Ensembl: ENSG00000180644

Variants:

dbSNP: 5551
ClinVar: 5551
TCGA: ENSG00000180644
COSMIC: PRF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180644ENST00000373209P14222
ENSG00000180644ENST00000441259P14222
ENSG00000180644ENST00000638674A0A1W2PR25

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
Natural killer cell mediated cytotoxicityKEGGko04650
Type I diabetes mellitusKEGGko04940
Autoimmune thyroid diseaseKEGGko05320
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
ApoptosisKEGGhsa04210
Natural killer cell mediated cytotoxicityKEGGhsa04650
Type I diabetes mellitusKEGGhsa04940
Autoimmune thyroid diseaseKEGGhsa05320
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
Viral myocarditisKEGGhsa05416

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182763emapalumabChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
123689102002HIV-specific CD8+ T cell proliferation is coupled to perforin expression and is maintained in nonprogressors.386
205238972010Perforin expression directly ex vivo by HIV-specific CD8 T-cells is a correlate of HIV elite control.165
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
218810432011Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.93
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
202214232010Perforin and IL-2 upregulation define qualitative differences among highly functional virus-specific human CD8 T cells.66
233774372013Perforin forms transient pores on the target cell plasma membrane to facilitate rapid access of granzymes during killer cell attack.64
185232742008Histone acetylation facilitates rapid and robust memory CD8 T cell response through differential expression of effector molecules (eomesodermin and its targets: perforin and granzyme B).61
162788252006Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.59
156410522005Increase in activated CD8+ T lymphocytes expressing perforin and granzyme B correlates with disease activity in patients with systemic lupus erythematosus.57

Citation

Dessen P

PRF1 (perforin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41839/prf1