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PRF1

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GENERAL INFORMATION

Gene name

 PRF1

Gene description

 Perforin 1 (pore forming protein)

Protein class

 Cancer-related genes
Disease related genes
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the cytosol.

RNA cell category

 Cell line enriched (HDLM-2)

Protein evidence

 Evidence at protein level

Main location

 Localized to the Cytosol (approved)

Single-cell variation

 Single-cell variation in protein expression observed.

DATA RELIABILITY

Reliability score

 Approved based on 1 antibody.
HPA037940
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (HDLM-2)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the cytosol.

Main location

 Cytosol (approved)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA037940 Hep G2 Cytosol Intensity
HPA037940 U-2 OS No staining    
HPA037940 U-251 MG Cytosol

GENE INFORMATION

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 83.38)

Entrez gene

 5551

UniProt

 P14222 (UniProt - Evidence at protein level)

neXtProt

 NX_P14222

Antibodypedia

 PRF1 antibodies

PROTEIN BROWSER
PRF1-001
PRF1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PRF1-001
ENSP00000362305
ENST00000373209
P14222 [Direct mapping]
Perforin-1
Show all
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Germline Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001771 [immunological synapse formation]
GO:0002357 [defense response to tumor cell]
GO:0002418 [immune response to tumor cell]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006968 [cellular defense response]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019835 [cytolysis]
GO:0022829 [wide pore channel activity]
GO:0031904 [endosome lumen]
GO:0044194 [cytolytic granule]
GO:0051260 [protein homooligomerization]
GO:0051607 [defense response to virus]
GO:0055085 [transmembrane transport]
Show all
 555 aa
61.4 kDa 		Yes 0
PRF1-201
ENSP00000398568
ENST00000441259
P14222 [Direct mapping]
Perforin-1
Show all
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Germline Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001771 [immunological synapse formation]
GO:0002357 [defense response to tumor cell]
GO:0002418 [immune response to tumor cell]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006968 [cellular defense response]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0019835 [cytolysis]
GO:0022829 [wide pore channel activity]
GO:0031904 [endosome lumen]
GO:0044194 [cytolytic granule]
GO:0051260 [protein homooligomerization]
GO:0051607 [defense response to virus]
GO:0055085 [transmembrane transport]
Show all
 555 aa
61.4 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.