PRF1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (spleen)
GTEx:Group enriched (lung, spleen)

Protein evidence

Evidence at protein level

Protein localization

Subsets of cells in lymphoid tissues showed strong cytoplasmic immunoreactivity. A subtype of squamous epithelium showed strong cytoplasmic positivity. Remaining normal tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB002436
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Spleen

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (spleen)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (lung, spleen)

Organ

Expression



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 BROWSER

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ENST00000373209
 
ENST00000441259
 
 
 
 


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