InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PRF1

Summary

InnateDB Gene

IDBG-77451.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRF1

Gene Name

perforin 1 (pore forming protein)

Synonyms

FLH2; HPLH2; P1; PFN1; PFP

Species

Homo sapiens

Ensembl Gene

ENSG00000180644

Encoded Proteins

IDBP-77453

perforin 1 (pore forming protein)

IDBP-379069

perforin 1 (pore forming protein)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:70597348-70602775

Strand

Reverse strand

Band

q22.1

Transcripts

ENST00000373209	ENSP00000362305
ENST00000441259	ENSP00000398568

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0022829	wide pore channel activity

Biological Process

GO:0002357	defense response to tumor cell
GO:0002418	immune response to tumor cell
GO:0006915	apoptotic process
GO:0006968	cellular defense response
GO:0019835	cytolysis
GO:0051260	protein homooligomerization
GO:0051607	defense response to virus
GO:0055085	transmembrane transport

Cellular Component

GO:0005576	extracellular region
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0031904	endosome lumen
GO:0044194	cytolytic granule

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000037202

View Gene Order

ENSBTAG00000001008

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04940

Type I diabetes mellitus pathway

hsa04650

Natural killer cell mediated cytotoxicity pathway

hsa05330

Allograft rejection pathway

hsa05320

Autoimmune thyroid disease pathway

hsa05332

Graft-versus-host disease pathway

hsa05416

Viral myocarditis pathway

INOH

PID NCI

cd8tcrpathway

TCR signaling in na�ve CD8+ T cells

caspase_pathway

Caspase Cascade in Apoptosis

cd8tcrdownstreampathway

Downstream signaling in na�ve CD8+ T cells

il12_stat4pathway

IL12 signaling mediated by STAT4

il2_stat5pathway

IL2 signaling events mediated by STAT5

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.2200

RefSeq

NM_001083116 NM_005041

HUGO

OMIM

CCDS

CCDS7305

HPRD

01362

IMGT

EMBL

GenPept

RNA Seq Atlas