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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PRF1 Gene

protein-coding GIFtS: 68
GCID: GC10M072357

perforin 1 (pore forming protein)

Explore 87 diseases affiliated with
PRF1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Perforin 1 (Pore Forming Protein)¹ ²		PFN1²
P1¹ ² ³		Cytolysin³
PFP¹ ² ³		Lymphocyte Pore Forming Protein²
HPLH2¹ ² ⁵		Perforin-1¹
Lymphocyte Pore-Forming Protein² ³		Cytolysin³
FLH2² ⁵

External Ids:	HGNC: 9360¹	Entrez Gene: 5551²	Ensembl: ENSG00000180644⁷	OMIM: 170280⁵	UniProtKB: P14222³

Export aliases for PRF1 gene to outside databases

Previous GC identifers: GC10M071119 GC10M071443 GC10M072249 GC10M071701 GC10M072027 GC10M066350

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRF1:

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)

UniProtKB/Swiss-Prot: PERF_HUMAN, P14222

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

Gene Wiki entry for PRF1 (Perforin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PRF1 gene promoter:
AREB6 CREB c-Rel AML1a deltaCREB YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PRF1 promoter sequence

Search SABiosciences Chromatin IP Primers for PRF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRF1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q22

PRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRF1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M072357: view genomic region (about GC identifiers)

Start:	72,357,104 bp from pter	End:	72,362,531 bp from pter
Size:	5,428 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PERF_HUMAN, P14222 (See protein sequence)

Recommended Name: Perforin-1 precursor

Size: 555 amino acids; 61377 Da

Subunit: Monomer, as sobluble protein. Homooligomer. Oligomerization is required for pore formation

Subcellular location: 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

Secondary accessions: B2R6X4 Q59F57 Q86WX7

Explore the universe of human proteins at neXtProt for PRF1: NX_P14222

Post-translational modifications:

N-glycosylated (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P14222

PRF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001076585.1 NP_005032.2

ENSEMBL proteins:

ENSP00000362305 ENSP00000398568 ENSP00000316746

Human Recombinant Protein Products:

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	Uscn Proteins for PRF1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IDA	--
GO:0016023	cytoplasmic membrane-bounded vesicle	IEA	--
GO:0031904	endosome lumen	IEA	--

PRF1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for PRF1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PRF1 for domains About GeneDecksing

5 InterPro domains/families:

IPR020864 MACPF

IPR018029 C2_membr_targeting

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR020863 MACPF_CS

IPR000008 C2_Ca-dep

Graphical View of Domain Structure for InterPro Entry P14222

ProtoNet protein and cluster: P14222

1 Blocks protein family: IPB000008 C2 domain

UniProtKB/Swiss-Prot: PERF_HUMAN, P14222

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

Similarity: Belongs to the complement C6/C7/C8/C9 family

Similarity: Contains 1 C2 domain

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 MACPF domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PERF_HUMAN, P14222

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

Induction: Repressed by contact with target cells

Genatlas biochemistry entry for PRF1:

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PRF1 Browse MicroRNA Expression Plasmids
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for PRF1

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		Search LifeMap BioReagents cell lines for PRF1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRF1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	ISS	--
GO:0005515	protein binding	IPI	11911826
GO:0022829	wide pore channel activity	IDA	--

PRF1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for PRF1: Prf1^tm1Sdz Prf1^tm1Clrk Prf1^tm1Tsc
     13 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Prf1):

behavior/neurological	cellular	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism
immune system	integument	liver/biliary system	mortality/aging	nervous system
normal	reproductive system	tumorigenesis

PRF1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Allograft rejection

Allograft rejection	1.00	Autoimmune thyroid disease	0.60
Type I diabetes mellitus	0.67	CTL Mediated Apoptosis	0.38
Graft-versus-host disease	0.63	Viral myocarditis	0.33

Immune response IL-12 signaling pathway

Immune response IL-12 signaling pathway

1.00

Immune response_IL-12 signaling pathway

0.96

Granzyme Pathway

Granzyme Pathway

1.00

Granzyme-B Pathway

0.42

Downstream signaling in naive CD8+ T cells

Downstream signaling in naive CD8+ T cells

1.00

IL12 signaling mediated by STAT4

IL12 signaling mediated by STAT4

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PRF1

Immune response IL-12 signaling pathway

5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRF1 (see all 6)

	Caspase Cascade
	Granzyme-B Pathway
	Granzyme-A Pathway
	RhoGDI Pathway
	Granzyme Pathway

1 GeneGo (Thomson Reuters) Pathway for PRF1

Immune response IL-12 signaling pathway

5/6 BioSystems Pathways for PRF1 (see all 6)

	Apoptosis
	Caspase cascade in apoptosis
	Downstream signaling in naive CD8+ T cells
	TCR signaling in naive CD8+ T cells
	IL12 signaling mediated by STAT4

5/6 Kegg Pathways (Kegg details for PRF1) (see all 6):

	Natural killer cell mediated cytotoxicity
	Type I diabetes mellitus
	Autoimmune thyroid disease
	Allograft rejection
	Graft-versus-host disease

PRF1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PRF1

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/21 Interacting proteins for PRF1 (P14222^{1, 2, 3} ENSP00000316746⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DDX24	Q9GZR7²^,³	MINT-65409 I2D: score=4
GZMB	P10144¹^,³, ENSP00000216341⁴	EBI-724466,EBI-2505785 I2D: score=3 STRING: ENSP00000216341
CALR	P27797³, ENSP00000320866⁴	I2D: score=3 STRING: ENSP00000320866
SRGN	P10124³, ENSP00000242465⁴	I2D: score=1 STRING: ENSP00000242465
RAG2	P55895³, ENSP00000308620⁴	I2D: score=1 STRING: ENSP00000308620

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002357	defense response to tumor cell	ISS	--
GO:0002418	immune response to tumor cell	ISS	--
GO:0006915	apoptotic process	TAS	10779745
GO:0006968	cellular defense response	TAS	10779745
GO:0007623	circadian rhythm	--	--

PRF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PRF1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PRF1

1 HMDB Compound for PRF1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

10/23 Novoseek chemical compound relationships for PRF1 gene (see all 23) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lactocin s	82.3	4	8775969 (1), 17096664 (1), 8775977 (1)
listeriolysin	81.1	6	11166239 (1), 16798043 (1), 9080692 (1), 11254648 (1) (see all 5)
equinatoxin ii	74.9	4	18418218 (1), 12944411 (1), 7679444 (1), 7599260 (1)
leukocidin	66.2	4	1449828 (1), 15170101 (1), 10556515 (1)
hemolysins	62	2	16458433 (1), 11107788 (1)
cdcs	61.3	1	19935887 (1)
serine	29.3	7	7927512 (2), 2215515 (1), 17715820 (1), 8775969 (1) (see all 7)
nisin	29.1	3	17096664 (1), 8775977 (1)
bacteriocins	27.8	1	12969372 (1)
melittin	25.6	1	9048567 (1)

Search CenterWatch for drugs/clinical trials and news about PRF1 / PERF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PRF1 gene (2 alternative transcripts):

NM_001083116.1 NM_005041.4

Unigene Cluster for PRF1:

Perforin 1 (pore forming protein)

Hs.2200 [show with all ESTs]

Unigene Representative Sequence: NM_001083116

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373209 ENST00000473106 ENST00000441259(uc009xqg.3) ENST00000318971(uc001jrf.4)

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Additional cDNA sequence:

AB209604.1 AK312754.1 BC047695.1 BC063043.1 FJ555237.1 L40557.1 M28393.1 X13224.1

3 DOTS entries:

DT.97775977 DT.40298803 DT.121271924

24/39 AceView cDNA sequences (see all 39):

BC047695 AI076019 BM991127 BM920832 BQ051752 BQ051559 M28393 NM_005041

BM561484 BQ052510 X13224 BU168141 BC063043 BQ052682 BQ051570 BQ883871

BG744487 BQ644869 BI838706 BM691546 BQ054092 CB051907 BI836346 BI772101

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for PRF1 About this scheme

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

ECgene alternative splicing isoforms for PRF1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PRF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACATAGCTT

About this image

PRF1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Pancreas

Islets of Langerhans

Mature Beta Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PRF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PRF1

SOURCE GeneReport for Unigene cluster: Hs.2200

SABiosciences Expression via Pathway-Focused PCR Arrays including PRF1:

Circadian Rhythms in human mouse rat

T-Cell Anergy & Immune Tolerance in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PRF1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRF1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRF1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for PRF1 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PRF1⁶	Uncharacterized protein	41(a)	1 ↔ 1	17(617894-618754)
lizard (Anolis carolinensis)	Reptilia	-- --	--	44(a) 38(a)	1 ↔ 1 possible ortholog	GL343220.1(2081565-2084895) GL343220.1(1055017-1058120)
zebrafish (Danio rerio)	Actinopterygii	LOC100007189¹	perforin-1-like	48.05(n) 40.82(a)		100007189 XM_001345674.4 XP_001345710.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28933376^1,2	C	pathogenic	66351680(-)	`TGCCAC/TGGATG`	4	T M	mis¹ ese³		2		NA	4
rs104894176^1,2	C	pathogenic	66351862(-)	`CGCTGG/AAGGGA`	4	/* /W	stg¹		1		NA	3544
rs28933374^1,2	C	pathogenic	66351950(-)	`GGAACA/C/TCCTGC`	6	H P L	mis¹ ese³		2		NA EU	931
rs28933973^1,2	C	pathogenic	66352311(-)	`TCATCC/TGGGCT`	4	R W	mis¹ ese³		2		NA	4
rs104894183^1,2	C	pathogenic	66352436(-)	`CCATGG/TGGTAC`	4	G V	mis¹		0	--	--	--	--
rs104894180^1,2	C	pathogenic	66353976(-)	`ACACAC/TAAAGG`	4	Q *	stg¹		0	--	--	--	--
rs35418374^1,2	C,F,	pathogenic	66354155(+)	`GCAGAC/TGGGCT`	4	H R	mis¹		6		NA WA	202
rs35947132^1,2	C,F,	other	66353894(+)	`TGAGCG/ACCAGA`	4	/A /V	mis¹		6		NA EU	5051
rs74513535^1,2		--	66351142(+)	`TCATAA/GTGTTT`	2	--	ut3¹		0	--	--	--	--
rs56743633^1,2	C,F,	--	66351177(+)	`GGGCCA/G/TCATTC`	4	--	ut3¹		3		WA	122

HapMap Linkage Disequilibrium report for PRF1 (72357104 - 72362531 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PRF1
1 CNV: 6879
Human Gene Mutation Database (HGMD): PRF1

Locus Specific Mutation Databases (LSDB): PRF1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PRF1 for disorders           About GeneDecksing

OMIM gene information: 170280
OMIM disorders: 603553  605027
UniProtKB/Swiss-Prot: PERF_HUMAN, P14222

Defects in PRF1 are the cause of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]; also

known as HPLH2. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal

recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer

cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia,

hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to

seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a

non-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is also

found

20/87 diseases for PRF1 (see all 87): About MalaCards

hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial, 2 chediak-higashi syndrome

diffuse large b-cell lymphoma hypersensitivity reaction type ii disease bacterial vaginosis human immunodeficiency virus infectious disease

hemolytic-uremic syndrome patellofemoral pain syndrome graft versus host disease hydrops fetalis

b-cell lymphomas abdominal aortic aneurysm anaplastic large cell lymphoma facial paralysis

coronary artery aneurysm aortic aneurysm endophthalmitis lymphocytic choriomeningitis

8 diseases from the University of Copenhagen DISEASES database for PRF1:

Hemophagocytic lymphohistiocytosis Lymphoma Myocarditis Skin disease

Human immunodeficiency virus infectious disease Melanoma Hypersensitivity reaction type II disease Chediak-Higashi syndrome

10/20 Novoseek disease relationships for PRF1 gene (see all 20) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
familial hemophagocytic lymphohistiocytosis	90	8	18496551 (1), 18710388 (1), 18198357 (1), 15632205 (1) (see all 8)
lymphohistiocytosis hemophagocytic	82.5	9	16860143 (2), 18311812 (1), 16278825 (1), 12229880 (1) (see all 8)
hemolysis	54.1	1	8557350 (1)
bacterial vaginosis	43	3	12148539 (1), 9815222 (1), 12388968 (1)
mastocytoma	26.5	1	7536799 (1)
cell damage	20.7	1	9331730 (1)
lymphoma	14.5	3	17477373 (1), 18198357 (1), 15459303 (1)
endophthalmitis	5.27	2	7834601 (1), 9423880 (1)
carcinoma	5.04	1	16400631 (1)
necrosis	2.87	6	7927512 (1), 20133891 (1), 19907657 (1), 15893691 (1) (see all 5)

GeneTests: PRF1

Familial Hemophagocytic Lymphohistiocytosis

Genetic Association Database (GAD): PRF1
Human Genome Epidemiology (HuGE) Navigator: PRF1 (23 documents)

Export disorders for PRF1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PRF1 gene, integrated from 9 sources (see all 296):
(articles sorted by number of sources associating them with PRF1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and chromosomal assignment of a human perforin (PFP) gene. (PubMed id 2592021)^{1, 2, 3} Shinkai Y.... Okumura K. (1989)
Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10. (PubMed id 1505959)^{1, 3, 9} Fink T.M....Lichter P. (1992)
Reciprocal granzyme/perforin-mediated death of human regulatory and responder T cells is regulated by interleukin-2 (IL-2). (PubMed id 20225066)^{1, 2} Czystowska M....Whiteside T.L. (2010)
Association of a novel single nucleotide polymorphism in the human perforin gene with the outcome of HTLV-I infection in patients from northeast Iran (Mash-had). (PubMed id 15336785)^{1, 4} Rafatpanah H....Hutchinson I.V. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. (PubMed id 11179007)^{1, 2} Goeransdotter Ericson K....Henter J.-I. (2001)
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. (PubMed id 10583959)^{1, 2} Stepp S.E....Kumar V. (1999)
Target cell-induced perforin mRNA turnover in NK3.3 cells is mediated by multiple elements within the mRNA coding region. (PubMed id 8676885)^{1, 2} Goebel W.S.... Brahmi Z. (1996)
Localization and molecular modelling of the membrane-inserted domain of the ninth component of human complement and perforin. (PubMed id 2395434)^{1, 2} Peitsch M.C....Tschopp J. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5551	HGNC: 9360	AceView: PRF1	Ensembl:ENSG00000180644	euGenes: HUgn5551
ECgene: PRF1	Kegg: 5551	H-InvDB: PRF1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PRF1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PRF1	Genetics and Cytogenetics in Oncology and Haematology
PRF1base	http://bioinf.uta.fi/PRF1base/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRF1
Wikipedia	http://en.wikipedia.org/wiki/Perforin
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt126.shtml

Intellectual Property for PRF1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PRF1 gene:
Search GeneIP for patents involving PRF1

GeneCards and IP:
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perforin 1 (pore forming protein)

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familial hemophagocytic lymphohistiocytosis
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PRF1 Gene

perforin 1 (pore forming protein)

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