Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5551
Gene name	Perforin 1
Gene symbol	PRF1
Synonyms (NCBI Gene)	HPLH2P1PFP
Chromosome	10
Chromosome location	10q22.1
Summary	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occur

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28933374	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs28933375	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs28933376	G>A	Pathogenic	Missense variant, coding sequence variant
rs28933973	G>A	Pathogenic	Missense variant, coding sequence variant
rs35418374	C>T	Pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs35947132	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Missense variant, coding sequence variant
rs104894176	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894180	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894181	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894182	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894183	A>C	Pathogenic	Missense variant, coding sequence variant
rs138126912	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141660796	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142012387	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs147035858	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs147462227	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs189650890	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs193302875	C>A	Pathogenic	Coding sequence variant, missense variant
rs193302876	G>A	Pathogenic	Coding sequence variant, stop gained
rs200430442	G>A	Pathogenic	Coding sequence variant, missense variant
rs202217604	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs751161742	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs751247865	G>T	Pathogenic	Coding sequence variant, missense variant
rs752858869	T>A	Pathogenic	Coding sequence variant, missense variant
rs768849283	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs771552960	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs776299562	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205093	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499556	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554867753	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564723653	G>T	Pathogenic	Stop gained, coding sequence variant
rs1589233357	G>A	Likely-pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT755480	hsa-miR-221-5p	Luciferase reporter assayWestern blottingqRT-PCR	36499501
MIRT1261237	hsa-miR-124	CLIP-seq
MIRT1261238	hsa-miR-145	CLIP-seq
MIRT1261239	hsa-miR-219-2-3p	CLIP-seq
MIRT1261240	hsa-miR-2682	CLIP-seq
MIRT1261241	hsa-miR-3147	CLIP-seq
MIRT1261242	hsa-miR-3185	CLIP-seq
MIRT1261243	hsa-miR-3675-5p	CLIP-seq
MIRT1261244	hsa-miR-3714	CLIP-seq
MIRT1261245	hsa-miR-3910	CLIP-seq
MIRT1261246	hsa-miR-3925-3p	CLIP-seq
MIRT1261247	hsa-miR-4283	CLIP-seq
MIRT1261248	hsa-miR-4423-3p	CLIP-seq
MIRT1261249	hsa-miR-4425	CLIP-seq
MIRT1261250	hsa-miR-4489	CLIP-seq
MIRT1261251	hsa-miR-4493	CLIP-seq
MIRT1261252	hsa-miR-449c	CLIP-seq
MIRT1261253	hsa-miR-4520a-3p	CLIP-seq
MIRT1261254	hsa-miR-4520b-3p	CLIP-seq
MIRT1261255	hsa-miR-4529-3p	CLIP-seq
MIRT1261256	hsa-miR-4640-5p	CLIP-seq
MIRT1261257	hsa-miR-4726-5p	CLIP-seq
MIRT1261258	hsa-miR-506	CLIP-seq
MIRT1261259	hsa-miR-7	CLIP-seq
MIRT1261260	hsa-miR-940	CLIP-seq
MIRT2076838	hsa-miR-127-5p	CLIP-seq
MIRT2076839	hsa-miR-3064-5p	CLIP-seq
MIRT2076840	hsa-miR-4679	CLIP-seq
MIRT2076838	hsa-miR-127-5p	CLIP-seq
MIRT2076839	hsa-miR-3064-5p	CLIP-seq
MIRT2076840	hsa-miR-4679	CLIP-seq
MIRT2457142	hsa-miR-1237	CLIP-seq
MIRT2457143	hsa-miR-1913	CLIP-seq
MIRT2457144	hsa-miR-324-3p	CLIP-seq
MIRT2457145	hsa-miR-4267	CLIP-seq
MIRT2457146	hsa-miR-4727-5p	CLIP-seq
MIRT2457142	hsa-miR-1237	CLIP-seq
MIRT2457143	hsa-miR-1913	CLIP-seq
MIRT2457144	hsa-miR-324-3p	CLIP-seq
MIRT2457145	hsa-miR-4267	CLIP-seq
MIRT2457146	hsa-miR-4727-5p	CLIP-seq
MIRT2688562	hsa-miR-556-5p	CLIP-seq
MIRT2688563	hsa-miR-610	CLIP-seq

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Transcription factor	Regulation	Reference
STAT4	Activation	12372421

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001771	Process	Immunological synapse formation	IBA
GO:0001771	Process	Immunological synapse formation	IDA	21438968
GO:0001772	Component	Immunological synapse	IEA
GO:0001772	Component	Immunological synapse	ISS
GO:0001778	Process	Plasma membrane repair	IDA	20530211
GO:0001909	Process	Leukocyte mediated cytotoxicity	IEA
GO:0001913	Process	T cell mediated cytotoxicity	IBA
GO:0001913	Process	T cell mediated cytotoxicity	IEA
GO:0001913	Process	T cell mediated cytotoxicity	ISS
GO:0002357	Process	Defense response to tumor cell	IBA
GO:0002357	Process	Defense response to tumor cell	IEA
GO:0002357	Process	Defense response to tumor cell	ISS
GO:0002418	Process	Immune response to tumor cell	IEA
GO:0002418	Process	Immune response to tumor cell	ISS
GO:0002839	Process	Positive regulation of immune response to tumor cell	IDA	32188940
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11911826, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	20038786, 21037563
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006915	Process	Apoptotic process	TAS	10779745
GO:0006968	Process	Cellular defense response	TAS	10779745
GO:0009306	Process	Protein secretion	IEA
GO:0009306	Process	Protein secretion	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	20889983
GO:0016020	Component	Membrane	IEA
GO:0017038	Process	Protein import	IDA	20038786
GO:0017038	Process	Protein import	IDA	20038786
GO:0017038	Process	Protein import	IEA
GO:0022829	Function	Wide pore channel activity	IBA
GO:0022829	Function	Wide pore channel activity	IDA	20038786, 20889983, 24558045
GO:0022829	Function	Wide pore channel activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0031904	Component	Endosome lumen	IEA
GO:0042802	Function	Identical protein binding	IPI	21037563, 21685908
GO:0044194	Component	Cytolytic granule	IDA	9756476, 24088571
GO:0044194	Component	Cytolytic granule	IEA
GO:0044194	Component	Cytolytic granule	ISS
GO:0046513	Process	Ceramide biosynthetic process	IDA	17303575
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IDA	20889983
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051604	Process	Protein maturation	IDA	21157428, 31953257, 32188940
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	ISS
GO:0051712	Process	Positive regulation of killing of cells of another organism	IDA	9756476
GO:0071806	Process	Protein transmembrane transport	IDA	20038786
GO:0071806	Process	Protein transmembrane transport	IDA	20038786, 24558045
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0140507	Process	Granzyme-mediated programmed cell death signaling pathway	IDA	20038786, 31953257, 32188940
GO:0140507	Process	Granzyme-mediated programmed cell death signaling pathway	IEA
GO:0140507	Process	Granzyme-mediated programmed cell death signaling pathway	ISS
GO:0140911	Function	Pore-forming activity	IEA
GO:0141201	Process	Pyroptotic cell death	IDA	32188940, 37198476, 38614101
GO:1904856	Component	Cytolytic granule lumen	TAS

MIM	HGNC	e!Ensembl
170280	9360	ENSG00000180644

P14222

Protein name

Perforin-1 (P1) (Cytolysin) (Lymphocyte pore-forming protein) (PFP)

Protein function

Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells (PubMed:20889983, PubMed:21037563, PubMed:24558045, PubMed:9058810, PubMed:9164947). Plays an import

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01823	MACPF	147 → 367	MAC/Perforin domain	Domain
PF00168	C2	415 → 508	C2 domain	Domain

Sequence

MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFP
VDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARD
AARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYS
FHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALR
TCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERH
SEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREAL
RRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT
FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRL
QVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQ
MLLGEPPGNRSGAVW

Sequence length

555

Interactions

View interactions

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

1030

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aplastic anemia	Likely pathogenic; Pathogenic	rs761310644, rs902124045, rs1361687182, rs1324261340, rs139322149, rs760379846, rs774071705, rs758728749, rs1454231642, rs768953378, rs1259291325, rs748926167, rs150558419, rs752608972, rs2493482370 View all (53 more)	RCV005040164 RCV003462895 RCV003469557 RCV005040199 RCV002499783 RCV003473931 RCV003473932 RCV005040340 RCV003471102 RCV004571751 RCV005042500 RCV003465919 RCV003475490 RCV005045194 RCV004571410 RCV003475454 RCV003465878 RCV003474966 RCV003459788 RCV004572865 RCV003459807 RCV002500969 RCV003472525 RCV003472526 RCV003472527 RCV003472528 RCV003472529 RCV003472530 RCV003471736 RCV003471737 RCV003463369 RCV003463370 RCV003471738 RCV003463371 RCV003471739 RCV003463372 RCV003471740 RCV003471741 RCV003463373 RCV003473101 RCV003460476 RCV003473102 RCV003466860 RCV003473104 RCV003460477 RCV003460478 RCV004574100 RCV004574101 RCV004574175 RCV005051358 RCV004573273 RCV004574620 RCV004574621 RCV004574622 RCV004574623 RCV003476291 RCV003476293 RCV003476292 RCV003471967 RCV001331590 RCV003472061 RCV003467376 RCV003473535 RCV005047164 RCV001330251 RCV003462791 RCV005050302 RCV003473833 RCV004570639 RCV003462835
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs1259291325, rs2132474852, rs2132477884, rs104894176, rs28933973, rs147035858	RCV002261417 RCV002261994 RCV002262001 RCV002260963 RCV002260964 RCV002261110
Familial hemophagocytic lymphohistiocytosis	Likely pathogenic; Pathogenic	rs761310644, rs902124045, rs1361687182, rs1848222357, rs139322149, rs1848219856, rs758728749, rs2132475562, rs150558419, rs766783280, rs773267292, rs2493483138, rs1415842374, rs1306495405, rs751247865 View all (18 more)	RCV005438068 RCV004699307 RCV001328348 RCV003230662 RCV002271649 RCV001553653 RCV001732821 RCV002238590 RCV004690347 RCV005059131 RCV003331403 RCV003155615 RCV003155835 RCV003988093 RCV001844108 RCV006262819 RCV004765849 RCV004526989 RCV002281706 RCV005237379 RCV004700236 RCV001201274 RCV003479176 RCV001779038 RCV004798866 RCV000826212 RCV005432514 RCV005236502 RCV001175585 RCV003492234 RCV003226450 RCV001251302 RCV001806090
Familial hemophagocytic lymphohistiocytosis 2	Likely pathogenic; Pathogenic	rs2132476466, rs761310644, rs902124045, rs1361687182, rs1848222357, rs1324261340, rs139322149, rs760379846, rs2132475735, rs774071705, rs758728749, rs2132476029, rs2132476381, rs1454231642, rs2132477913 View all (84 more)	RCV001594429 RCV001370616 RCV001321952 RCV003514497 RCV001330253 RCV001342664 RCV001379074 RCV001381512 RCV001384989 RCV001381513 RCV001861038 RCV001814781 RCV001949278 RCV001996660 RCV001900790 RCV001933918 RCV001963228 RCV001935374 RCV003089183 RCV002250263 RCV003037341 RCV003037342 RCV003062264 RCV003062265 RCV002837521 RCV002881422 RCV002876584 RCV002881090 RCV002933279 RCV002971843 RCV000196330 RCV003002871 RCV003022526 RCV003035775 RCV003150600 RCV005100941 RCV003514619 RCV003228213 RCV000554706 RCV003447764 RCV003626869 RCV005047607 RCV003514649 RCV005100209 RCV003626870 RCV005047609 RCV003626871 RCV003626872 RCV005100210 RCV003626876 RCV003515360 RCV000014708 RCV000014710 RCV000014711 RCV000014712 RCV000014714 RCV003515690 RCV000014715 RCV000014724 RCV000014725 RCV000014726 RCV003516317 RCV003516318 RCV003516319 RCV003516320 RCV003516321 RCV003516322 RCV003515240 RCV003515852 RCV003626963 RCV003627048 RCV003627726 RCV003627874 RCV003628233 RCV003628289 RCV003628440 RCV003628580 RCV003628551 RCV003628555 RCV003627097 RCV003627377 RCV003842934 RCV000449644 RCV000534759 RCV000541899 RCV000547072 RCV000985008 RCV000819599 RCV000626236 RCV000663339 RCV000680078 RCV000761453 RCV000799081 RCV000988374 RCV000988376 RCV000988377 RCV001052399 RCV001169866 RCV001232661 RCV001235359 RCV001247037 RCV001250207 RCV001253459
Familial hemophagocytic lymphohistiocytosis type 1	Pathogenic	rs28933973	RCV004814906
Lymphoma, non-Hodgkin, familial	Likely pathogenic; Pathogenic	rs761310644, rs902124045, rs1324261340, rs139322149, rs760379846, rs758728749, rs1259291325, rs752608972, rs755737064, rs1306495405, rs751247865, rs2493484435, rs550073023, rs763002067, rs104894176 View all (9 more)	RCV005040164 RCV005050331 RCV005040199 RCV002499783 RCV005050366 RCV005040340 RCV005042500 RCV005045194 RCV005045123 RCV005047465 RCV002500969 RCV005047607 RCV005047608 RCV005047609 RCV005042053 RCV005049338 RCV005051358 RCV002506353 RCV005398810 RCV002483745 RCV005047163 RCV005047164 RCV005050302 RCV005040094
PRF1-related disorder	Pathogenic; Likely pathogenic	rs760379846, rs1037706456, rs1848174771, rs578092914, rs147035858	RCV004754747 RCV003416883 RCV003984435 RCV004754465 RCV003419965

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs149776121	RCV005904687
Familial cancer of breast	Conflicting classifications of pathogenicity	rs149776121	RCV005904686
Gastric cancer	Conflicting classifications of pathogenicity	rs149776121	RCV005904688
Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to	Conflicting classifications of pathogenicity; risk factor	rs35947132	RCV000014719
Pelizaeus-Merzbacher disease	Conflicting classifications of pathogenicity	rs201032696	RCV005863297
See cases	Uncertain significance	rs1031606439, rs2132475692	RCV002252366 RCV002253153

Show/Hide Text Mining Associations (83)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35733175
Alcoholism	Stimulate	21121937
Anemia Aplastic	Associate	17311987
Arthritis Rheumatoid	Associate	29388193
Asthma	Associate	37730635
Ataxia	Associate	23443029, 37390248
Ataxia Telangiectasia	Associate	30009527
Autoimmune Diseases	Associate	33566725, 38149249
Autoimmune Lymphoproliferative Syndrome	Associate	15459303, 18198357
Bone Marrow Failure Disorders	Associate	17311987
Brain Diseases	Associate	37390248
Breast Neoplasms	Associate	39363164
Carcinoma Ductal	Associate	39363164
Carcinoma Hepatocellular	Associate	35902905
Carcinoma Pancreatic Ductal	Associate	27768182
Carcinoma Renal Cell	Associate	35739510
Cardiomyopathies	Associate	39294340
Central Nervous System Diseases	Associate	37390248
Colorectal Neoplasms	Associate	1892750, 29770915, 35937946
Common Variable Immunodeficiency	Associate	33838017
Coronary Artery Disease	Associate	34777632
COVID 19	Associate	34975885, 35733175, 36016321
Cranial Nerve Injuries	Associate	37390248
Crohn Disease	Associate	31191543
Death	Associate	33224420, 38149249
Demyelinating Diseases	Associate	38149249
Dengue	Associate	35267010
Diabetes Mellitus	Associate	29216683
Diabetes Mellitus Type 1	Associate	18198357, 33566725, 35626661
Drug Related Side Effects and Adverse Reactions	Associate	20529823, 27383371, 30333226, 39405653
Epstein Barr Virus Infections	Associate	25947952
Genetic Diseases Inborn	Associate	17606450
Glioma	Associate	36325335
Heart Failure Diastolic	Associate	36266995
Hematologic Diseases	Associate	31562900, 32098966
Hemophagocytic lymphohistiocytosis familial 2	Associate	22186995, 25104007, 29216683, 30045285, 30658162, 32259894, 33566725, 38149249, 40090000
Hemorrhage	Associate	37203300
Hereditary Autoinflammatory Diseases	Associate	36263058
Hypertension	Associate	37675573
Immune Reconstitution Inflammatory Syndrome	Stimulate	25589068
Immune System Diseases	Associate	33838017, 37325673
Immunologic Deficiency Syndromes	Associate	25569260, 30658162, 31562900
Immunologic Deficiency Syndromes	Inhibit	30658162
Inflammation	Associate	23734059, 27383371, 33566725
Leukemia	Associate	37919606
Leukemia Lymphocytic Chronic B Cell	Associate	19897574
Leukemia Lymphoid	Associate	29599780
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	37919606
Leukemia Myeloid Acute	Associate	32098966
Lupus Erythematosus Systemic	Stimulate	23029299
Lupus Erythematosus Systemic	Associate	25986394
Lymphohistiocytosis Hemophagocytic	Associate	12358924, 15632205, 16778144, 16791263, 17606450, 17652853, 18198357, 18240215, 18311812, 18710388, 19884660, 20015888, 21152410, 21881043, 22186995 View all (32 more)
Lymphoma	Associate	15459303, 17477373, 18198357
Lymphoma B Cell	Associate	15459303
Lymphoma Large Cell Anaplastic	Associate	17477373
Lymphoma T Cell	Associate	24632576, 37781365
Macrophage Activation Syndrome	Associate	26597256
Melanoma	Associate	25944800, 39222576
Meningism	Associate	12952922
Microsatellite Instability	Associate	34181673
Multiple Sclerosis	Associate	33566725, 36755464
Myelodysplastic Syndromes	Associate	32098966
Narcolepsy	Associate	37188663
Neoplasms	Inhibit	1892750, 35201851
Neoplasms	Associate	19897574, 22735807, 22829880, 24632576, 26625258, 29770915, 30009527, 30504371, 30963401, 36271373, 38017109, 39376571
Neuroblastoma	Associate	26161395
Non alcoholic Fatty Liver Disease	Associate	36266995
Nose Diseases	Associate	24632576
Paralysis	Associate	37390248
Paraparesis Tropical Spastic	Stimulate	24041428
Phyllodes Tumor	Associate	36271373
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	38149249
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	16791263
Primary Immunodeficiency Diseases	Associate	38644452
Pulmonary Fibrosis	Associate	35558069
Purpura Thrombocytopenic Idiopathic	Associate	27391055
Respiratory Syncytial Virus Infections	Associate	28253869
Respiratory Tract Infections	Associate	25569648
Retinitis Pigmentosa	Associate	34070492
Seizures	Associate	37390248
Spinocerebellar Degenerations	Stimulate	35937946
Stomach Neoplasms	Associate	33312758, 34181673, 35741779
Tn Syndrome	Inhibit	29892290

PRF1 (perforin 1)