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Aliases for PRF1 Gene

Aliases for PRF1 Gene

  • Perforin 1 2 3
  • Perforin 1 (Pore Forming Protein) 2 3 5
  • Lymphocyte Pore-Forming Protein 3 4
  • Cytolysin 3 4
  • PFP 3 4
  • P1 3 4
  • Perforin 1 (Preforming Protein) 2
  • Lymphocyte Pore Forming Protein 3
  • Perforin 2
  • HPLH2 3
  • FLH2 3
  • PFN1 3

External Ids for PRF1 Gene

Previous GeneCards Identifiers for PRF1 Gene

  • GC10M071119
  • GC10M071443
  • GC10M072249
  • GC10M071701
  • GC10M072027
  • GC10M072357
  • GC10M066350

Summaries for PRF1 Gene

Entrez Gene Summary for PRF1 Gene

  • 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]

GeneCards Summary for PRF1 Gene

PRF1 (Perforin 1) is a Protein Coding gene. Diseases associated with PRF1 include hemophagocytic lymphohistiocytosis, familial, 2 and aplastic anemia. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and wide pore channel activity.

UniProtKB/Swiss-Prot for PRF1 Gene

  • Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.

Gene Wiki entry for PRF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRF1 Gene

Genomics for PRF1 Gene

Regulatory Elements for PRF1 Gene

Genomic Location for PRF1 Gene

Chromosome:
10
Start:
70,597,348 bp from pter
End:
70,602,775 bp from pter
Size:
5,428 bases
Orientation:
Minus strand

Genomic View for PRF1 Gene

Genes around PRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRF1 Gene

Proteins for PRF1 Gene

  • Protein details for PRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14222-PERF_HUMAN
    Recommended name:
    Perforin-1
    Protein Accession:
    P14222
    Secondary Accessions:
    • B2R6X4
    • Q59F57
    • Q86WX7

    Protein attributes for PRF1 Gene

    Size:
    555 amino acids
    Molecular mass:
    61377 Da
    Quaternary structure:
    • Monomer, as sobluble protein. Homooligomer. Oligomerization is required for pore formation.

neXtProt entry for PRF1 Gene

Proteomics data for PRF1 Gene at MOPED

Post-translational modifications for PRF1 Gene

Other Protein References for PRF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PRF1 Gene

Domains & Families for PRF1 Gene

Gene Families for PRF1 Gene

Protein Domains for PRF1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PRF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14222

UniProtKB/Swiss-Prot:

PERF_HUMAN :
  • The C2 domain mediates calcium-dependent binding to lipid membranes. A subsequent conformation change leads to membrane insertion of beta-hairpin structures and pore formation. The pore is formed by transmembrane beta-strands.
  • Belongs to the complement C6/C7/C8/C9 family.
Domain:
  • The C2 domain mediates calcium-dependent binding to lipid membranes. A subsequent conformation change leads to membrane insertion of beta-hairpin structures and pore formation. The pore is formed by transmembrane beta-strands.
  • Contains 1 C2 domain.
  • Contains 1 EGF-like domain.
  • Contains 1 MACPF domain.
Family:
  • Belongs to the complement C6/C7/C8/C9 family.
genes like me logo Genes that share domains with PRF1: view

Function for PRF1 Gene

Molecular function for PRF1 Gene

GENATLAS Biochemistry:
perforin70-75kDa,pore forming protein 1 (cytoplasmic granules of natural killer and cytotoxic T cell),crucial effector of T and NK cell-mediated cytolysis,highly homologous to complement component C9
UniProtKB/Swiss-Prot Function:
Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.
UniProtKB/Swiss-Prot Induction:
Repressed by contact with target cells.
genes like me logo Genes that share phenotypes with PRF1: view

Human Phenotype Ontology for PRF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRF1 Gene

MGI Knock Outs for PRF1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PRF1 Gene

Localization for PRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRF1 Gene

Cytoplasmic granule lumen. Secreted. Cell membrane; Multi-pass membrane protein. Endosome lumen. Note=Stored in cytoplasmic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell. Inserts into the cell membrane of target cells and forms pores. Membrane insertion and pore formation requires a major conformation change. May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRF1 Gene COMPARTMENTS Subcellular localization image for PRF1 gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for PRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031904 endosome lumen IEA --
genes like me logo Genes that share ontologies with PRF1: view

Pathways & Interactions for PRF1 Gene

genes like me logo Genes that share pathways with PRF1: view

Interacting Proteins for PRF1 Gene

Gene Ontology (GO) - Biological Process for PRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001771 immunological synapse formation IDA 21438968
GO:0051607 defense response to virus IEA,ISS --
genes like me logo Genes that share ontologies with PRF1: view

No data available for SIGNOR curated interactions for PRF1 Gene

Drugs & Compounds for PRF1 Gene

(7) Drugs for PRF1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(16) Additional Compounds for PRF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRF1: view

Transcripts for PRF1 Gene

mRNA/cDNA for PRF1 Gene

Unigene Clusters for PRF1 Gene

Perforin 1 (pore forming protein):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRF1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3
SP1: -
SP2:

Relevant External Links for PRF1 Gene

GeneLoc Exon Structure for
PRF1
ECgene alternative splicing isoforms for
PRF1

Expression for PRF1 Gene

mRNA expression in normal human tissues for PRF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRF1 Gene

This gene is overexpressed in Whole Blood (x40.5) and Spleen (x4.2).

Protein differential expression in normal tissues from HIPED for PRF1 Gene

This gene is overexpressed in NK cells (55.7) and CD8 Tcells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRF1 Gene



SOURCE GeneReport for Unigene cluster for PRF1 Gene Hs.2200

genes like me logo Genes that share expression patterns with PRF1: view

Protein tissue co-expression partners for PRF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PRF1 Gene

Orthologs for PRF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRF1 35
  • 79.57 (n)
  • 73.74 (a)
PRF1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRF1 35
  • 80.68 (n)
  • 75.8 (a)
PRF1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prf1 35
  • 74.73 (n)
  • 68.29 (a)
Prf1 16
Prf1 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRF1 35
  • 99.22 (n)
  • 98.92 (a)
PRF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prf1 35
  • 74.61 (n)
  • 69.04 (a)
oppossum
(Monodelphis domestica)
Mammalia PRF1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC101750363 35
  • 50.52 (n)
  • 40.78 (a)
PRF1 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 36 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492973 35
  • 52.51 (n)
  • 40.22 (a)
zebrafish
(Danio rerio)
Actinopterygii prf1.7 35
  • 48.39 (n)
  • 41.13 (a)
PRF1 (6 of 8) 36
  • 33 (a)
OneToMany
prf1.1 36
  • 36 (a)
OneToMany
prf1.2 36
  • 36 (a)
OneToMany
prf1.3 36
  • 35 (a)
OneToMany
prf1.5 36
  • 34 (a)
OneToMany
prf1.6 36
  • 33 (a)
OneToMany
prf1.7 36
  • 36 (a)
OneToMany
prf1.8 36
  • 35 (a)
OneToMany
Species with no ortholog for PRF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRF1 Gene

ENSEMBL:
Gene Tree for PRF1 (if available)
TreeFam:
Gene Tree for PRF1 (if available)

Paralogs for PRF1 Gene

No data available for Paralogs for PRF1 Gene

Variants for PRF1 Gene

Sequence variations from dbSNP and Humsavar for PRF1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_010744 Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
rs28933973 Familial hemophagocytic lymphohistiocytosis 2 (FHL2) 70,599,048(-) TCATC(C/T)GGGCT reference, missense
rs28933375 Familial hemophagocytic lymphohistiocytosis 2 (FHL2) 70,598,966(-) GGACA(A/G)CGAGG reference, missense
VAR_010747 Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
rs28933374 Familial hemophagocytic lymphohistiocytosis 2 (FHL2) 70,598,687(-) GGAAC(A/C/T)CCTGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PRF1 Gene

Variant ID Type Subtype PubMed ID
esv32737 CNV Gain+Loss 17666407

Variation tolerance for PRF1 Gene

Residual Variation Intolerance Score: 75.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRF1 Gene

HapMap Linkage Disequilibrium report
PRF1
Human Gene Mutation Database (HGMD)
PRF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRF1 Gene

Disorders for PRF1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for PRF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis, familial, 2
  • fhl2
aplastic anemia
  • pulmonary fibrosis, idiopathic
lymphoma, non-hodgkin
  • lymphoma, non-hodgkin, somatic
fatal post-viral neurodegenerative disorder
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PRF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PERF_HUMAN
  • Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO:0000269 PubMed:10583959, ECO:0000269 PubMed:11179007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRF1

Genetic Association Database (GAD)
PRF1
Human Genome Epidemiology (HuGE) Navigator
PRF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRF1
genes like me logo Genes that share disorders with PRF1: view

No data available for Genatlas for PRF1 Gene

Publications for PRF1 Gene

  1. Molecular cloning and chromosomal assignment of a human perforin (PFP) gene. (PMID: 2592021) Shinkai Y. … Okumura K. (Immunogenetics 1989) 2 3 4 67
  2. Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10. (PMID: 1505959) Fink T.M. … Lichter P. (Genomics 1992) 2 3 23
  3. Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. (PMID: 20019066) Vastert S.J. … Kuis W. (Rheumatology (Oxford) 2010) 3 23
  4. Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant. (PMID: 19058215) van Montfrans J.M. … Boelens J.J. (Pediatr Blood Cancer 2009) 3 23
  5. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. (PMID: 20092789) Lu G. … Yang S. (Chin. Med. J. 2009) 3 23

Products for PRF1 Gene

Sources for PRF1 Gene

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