PRF1

GENE INFORMATION

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Gene name

PRF1 (HGNC Symbol)

Synonyms

HPLH2, P1, PFP

Description

Perforin 1 (pore forming protein) (HGNC Symbol)

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]

Chromosome

10

Cytoband

q22.1

Chromosome location (bp)

70597348 - 70602775

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000180644 (version 78.38)

Entrez gene

5551

UniProt

P14222 (UniProt - Evidence at protein level)

neXtProt

NX_P14222

Antibodypedia

PRF1 antibodies
 

PROTEIN VIEW

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PRF1-001
 
PRF1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PRF1-001 ENSP00000362305
ENST00000373209
P14222
Show all »
Show » Show » 555 61.4 Yes 0
PRF1-201 ENSP00000398568
ENST00000441259
P14222
Show all »
Show » Show » 555 61.4 Yes 0