InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Prf1

Summary

InnateDB Gene

IDBG-155739.6

Last Modified

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

Gene Symbol

Prf1

Gene Name

perforin 1 (pore forming protein)

Synonyms

Pfn; Pfp; Prf-1

Species

Mus musculus

Ensembl Gene

ENSMUSG00000037202

Encoded Proteins

IDBP-155741

perforin 1 (pore forming protein)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000180644:
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 10:61297836-61304263

Strand

Forward strand

Band

Transcripts

ENSMUST00000035419

ENSMUSP00000041483

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	2 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	1 [view]
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: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

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000180644

View Gene Order

ENSBTAG00000001008

Not yet available

Pathways

NETPATH

REACTOME

KEGG

mmu04940

Type I diabetes mellitus pathway

mmu04650

Natural killer cell mediated cytotoxicity pathway

mmu05330

Allograft rejection pathway

mmu05332

Graft-versus-host disease pathway

mmu05320

Autoimmune thyroid disease pathway

mmu05416

Viral myocarditis pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

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

P10820

TrEMBL

A2RSY7

UniProt Splice Variant

Entrez Gene

18646

UniGene

Mm.240313

RefSeq

NM_011073 XM_006513370

OMIM

CCDS

CCDS23875

HPRD

IMGT

MGI ID

MGI:97551

MGI Symbol

Prf1

EMBL

BC132300 BC137962 CH466553 J04148 M23182 M95527 X12760 X51340 X51446 X60165

GenPept

AAA39909 AAA39910 AAB01574 AAI32301 AAI37963 CAA31251 CAA35721 CAA42731 EDL32148 EDL32149

RNA Seq Atlas

18646