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PRF1 perforin 1 (pore forming protein) [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu23295 NM_005041 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu23295 NM_001083116 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu23295C NM_005041 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu23295C NM_001083116 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00

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Gene Symbol PRF1
Entrez Gene ID 5551
Full Name perforin 1 (pore forming protein)
Synonyms FLH2, HPLH2, P1, PFN1, PFP
General protein information
Preferred Names
perforin-1
Names
perforin-1
cytolysin
lymphocyte pore forming protein
lymphocyte pore-forming protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10q22

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].
Disorder

MIM: 170280

Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3);

mRNA Protein Product Sequence Price Select
NM_001083116, 133908620 NP_001076585, 133908621 perforin-1 precursor ORF Sequence $360.00
NM_005041, 133908619 NP_005032, 40254808 perforin-1 precursor ORF Sequence $360.00
KEGG
hsa04650Natural killer cell mediated cytotoxicity
hsa05332Graft-versus-host disease
hsa05320Autoimmune thyroid disease
hsa04940Type I diabetes mellitus
hsa05330Allograft rejection
hsa05416Viral myocarditis
WikiPathways
WP254Apoptosis
WP2328Allograft Rejection
Pathway Interaction Database
il12_stat4pathwayIL12 signaling mediated by STAT4
caspase_pathwayCaspase cascade in apoptosis
il2_stat5pathwayIL2 signaling events mediated by STAT5
cd8tcrdownstreampathwayDownstream signaling in naive CD8+ T cells
cd8tcrpathwayTCR signaling in naive CD8+ T cells
Homo sapiens (human)PRF1NP_001076585.1
Pan troglodytes (chimpanzee)PRF1XP_507837.2
Macaca mulatta (Rhesus monkey)PRF1XP_001107909.1
Canis lupus familiaris (dog)PRF1NP_001184111.1
Bos taurus (cattle)PRF1NP_001137207.1
Mus musculus (house mouse)Prf1NP_035203.3
Rattus norvegicus (Norway rat)Prf1NP_059026.2
Gallus gallus (chicken)LOC101750363XP_004945747.1
Danio rerio (zebrafish)prf1.7XP_003200648.1
Danio rerio (zebrafish)LOC100000903XP_001341008.1
Danio rerio (zebrafish)LOC569443XP_697920.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100489175XP_002942088.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100492973XP_002941527.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC101732838XP_004919588.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC101732506XP_004918449.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100489487XP_002942090.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100489324XP_002942089.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100491518XP_002942100.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100493300XP_002941529.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100493140XP_002941528.1
Process
IDNameEvidence
GO:0002357defense response to tumor cellISS
GO:0002418immune response to tumor cellISS
GO:0006915apoptotic processTAS
GO:0006968cellular defense responseTAS
GO:0019835cytolysisISS
GO:0051260protein homooligomerizationIDA
GO:0051607defense response to virusISS
GO:0055085transmembrane transportIDA
GO:0055085transmembrane transportIEA
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005886plasma membraneIEA
GO:0016020membraneIDA
GO:0016021integral component of membraneIDA
GO:0016023cytoplasmic membrane-bounded vesicleIEA
GO:0031904endosome lumenIEA
GO:0044194cytolytic granuleISS
Function
IDNameEvidence
GO:0005509calcium ion bindingISS
GO:0005515protein bindingIPI
GO:0022829wide pore channel activityIDA
GeneCards PRF1
UniProt P14222
Vega OTTHUMG00000018412
MIM 170280
Ensembl ENSG00000180644
HGNC 9360
HPRD 01362

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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