PRF1 (perforin 1)

PRF1 (perforin 1)

2003-06-01 Affiliation

Identity

HGNC

LOCATION

10q22.1

LOCUSID

ALIAS

HPLH2,P1,PFP

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000180644	ENST00000373209	P14222
ENSG00000180644	ENST00000441259	P14222
ENSG00000180644	ENST00000638674	A0A1W2PR25

Expression (GTEx)

0

50

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Apoptosis	KEGG	ko04210
Natural killer cell mediated cytotoxicity	KEGG	ko04650
Type I diabetes mellitus	KEGG	ko04940
Autoimmune thyroid disease	KEGG	ko05320
Allograft rejection	KEGG	ko05330
Graft-versus-host disease	KEGG	ko05332
Apoptosis	KEGG	hsa04210
Natural killer cell mediated cytotoxicity	KEGG	hsa04650
Type I diabetes mellitus	KEGG	hsa04940
Autoimmune thyroid disease	KEGG	hsa05320
Allograft rejection	KEGG	hsa05330
Graft-versus-host disease	KEGG	hsa05332
Viral myocarditis	KEGG	hsa05416

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166182763	emapalumab	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
36631067	2023	Baseline red blood cell distribution width and perforin, dynamic levels of interleukin 6 and lactate are predictors of mortality in patients with sepsis.	2
36765484	2023	[Gene Polymorphisms of Patients with Lymphoma-Associated Hemophagocytic Syndrome in Longyan area, Fujian Province].	0
37149695	2023	Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.	6
37390248	2023	Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.	1
36631067	2023	Baseline red blood cell distribution width and perforin, dynamic levels of interleukin 6 and lactate are predictors of mortality in patients with sepsis.	2
36765484	2023	[Gene Polymorphisms of Patients with Lymphoma-Associated Hemophagocytic Syndrome in Longyan area, Fujian Province].	0
37149695	2023	Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.	6
37390248	2023	Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.	1
32785835	2021	Immunohistochemical study of perforin and apoptosis stimulation fragment ligand (FasL)in active vitiligo.	0
33566725	2021	PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.	10
33662167	2021	Identification of CD56(dim) subpopulation marked with high expression of GZMB/PRF1/PI-9 in CD56(+) interferon-α-induced dendritic cells.	3
34093532	2021	A Profound Membrane Reorganization Defines Susceptibility of Plasmodium falciparum Infected Red Blood Cells to Lysis by Granulysin and Perforin.	5
34339548	2021	Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.	3
34492245	2021	Granzyme B and perforin produced by SEC2 mutant-activated human CD4(+) T cells and CD8(+) T cells induce apoptosis of K562 leukemic cells by the mitochondrial apoptotic pathway.	1
34535957	2021	Human intestinal and circulating invariant natural killer T cells are cytotoxic against colorectal cancer cells via the perforin-granzyme pathway.	7

Citation

Dessen P

PRF1 (perforin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41839/gene-explorer/js/js/lib/all.min.js