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


RefSeq Accession Definition Services Price Order
NM_001083116 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA. ORF Sequence $483.72
Peptide Services
Antibody Services
Protein Services
NM_005041 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA. ORF Sequence $483.72
Peptide Services
Antibody Services
Protein Services


Gene Symbol PRF1
Entrez Gene ID 5551
Full Name perforin 1 (pore forming protein)
Synonyms FLH2, HPLH2, MGC65093, P1, PFN1, PFP
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 Full Length $740.95
ORF Sequence $483.72
NM_005041, 133908619 NP_005032, 40254808 perforin-1 precursor Full Length $733.41
ORF Sequence $483.72
KEGG
hsa05332Graft-versus-host disease
hsa05330Allograft rejection
hsa05416Viral myocarditis
hsa05320Autoimmune thyroid disease
hsa04940Type I diabetes mellitus
hsa04650Natural killer cell mediated cytotoxicity
WikiPathways
WP254Apoptosis
Pathway Interaction Database
caspase_pathwayCaspase cascade in apoptosis
cd8tcrdownstreampathwayDownstream signaling in naive CD8+ T cells
cd8tcrpathwayTCR signaling in naive CD8+ T cells
il12_stat4pathwayIL12 signaling mediated by STAT4
il2_stat5pathwayIL2 signaling events mediated by STAT5
Homo sapiens (human)PRF1NP_001076585.1
Pan troglodytes (chimpanzee)PRF1XP_001171235.1
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
Danio rerio (zebrafish)LOC100000903XP_001341008.1
Danio rerio (zebrafish)LOC100007189XP_001345710.1
Danio rerio (zebrafish)LOC100535230XP_003200648.1
Danio rerio (zebrafish)LOC100007284XP_001345782.3
Danio rerio (zebrafish)LOC569443XP_697920.2
Danio rerio (zebrafish)LOC559849XP_688329.2
GeneCards PRF1
UniProt P14222
MIM 170280
Ensembl ENSG00000180644
HGNC 9360
HPRD 01362

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

General protein information

Preferred Names
perforin-1
Names
perforin-1
cytolysin
lymphocyte pore forming protein
lymphocyte pore-forming protein

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