• Gene id: 5551

Gene Summary

• Gene Symbol: PRF1   Gene   UCSC   Ensembl
• Aliases: HPLH2, P1, PFP
• Gene name: perforin 1
• Alternate names: perforin-1, cytolysin, lymphocyte pore-forming protein, perforin 1 (pore forming protein),
• Gene location: 10q22.1 (70602787: 70597347)     Exons: 3     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 170280

Protein Summary

• Protein general information: P14222  
  • Name: Perforin 1 (P1) (Cytolysin) (Lymphocyte pore forming protein) (PFP)
  • Length: 555  
  • Mass: 61,377
• Sequence:

  MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTL
  CENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGS
  HSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIR
  AVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERH
  SEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWR
  DCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRT
  STVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARC
  LPHLGGGTCLDYVPQMLLGEPPGNRSGAVW

• Structural information:
  • Protein Domains: MACPF. (27-375)
    EGF-like (376-408)
    C2. (416-498)
  • Interpro: IPR000008  IPR035892  IPR020864  IPR020863  IPR037300  
  • Prosite: PS50004 PS00279 PS51412
  • CDD: cd04032
  • DIP: 53288
  • STRING: ENSP00000316746
• Other Databases: GeneCards:  PRF1  Malacards:  PRF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001771	immunological synapse formation	IDA	biological process
GO:0002357	defense response to tumor cell	ISS	biological process
GO:0002418	immune response to tumor cell	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0006968	cellular defense response	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0019835	cytolysis	ISS	biological process
GO:0022829	wide pore channel activity	IDA	molecular function
GO:0031904	endosome lumen	IEA	cellular component
GO:0044194	cytolytic granule	ISS	cellular component
GO:0051260	protein homooligomerization	IDA	biological process
GO:0051607	defense response to virus	ISS	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0001771	immunological synapse formation	IDA	biological process
GO:0002357	defense response to tumor cell	IEA	biological process
GO:0002357	defense response to tumor cell	ISS	biological process
GO:0002418	immune response to tumor cell	IEA	biological process
GO:0002418	immune response to tumor cell	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0006968	cellular defense response	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0019835	cytolysis	IEA	biological process
GO:0019835	cytolysis	ISS	biological process
GO:0019835	cytolysis	IEA	biological process
GO:0022829	wide pore channel activity	IEA	molecular function
GO:0022829	wide pore channel activity	IDA	molecular function
GO:0031904	endosome lumen	IEA	cellular component
GO:0044194	cytolytic granule	IEA	cellular component
GO:0044194	cytolytic granule	ISS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051260	protein homooligomerization	IEA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0051607	defense response to virus	ISS	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0001771	immunological synapse formation	IDA	biological process
GO:0002357	defense response to tumor cell	ISS	biological process
GO:0002418	immune response to tumor cell	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0006968	cellular defense response	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0019835	cytolysis	ISS	biological process
GO:0022829	wide pore channel activity	IDA	molecular function
GO:0044194	cytolytic granule	ISS	cellular component
GO:0051260	protein homooligomerization	IDA	biological process
GO:0051607	defense response to virus	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis
hsa04650	Natural killer cell mediated cytotoxicity
hsa05320	Autoimmune thyroid disease
hsa05330	Allograft rejection
hsa05332	Graft-versus-host disease
hsa05416	Viral myocarditis
hsa04940	Type I diabetes mellitus

Diseases

Associated diseases	References
Cancer (lymphoma)	GAD: 17477373
Cancer	GAD: 17477373
Cancer (leukemia)	GAD: 16791263
Lymphohistiocytosis	GAD: 18710388
Familial hemophagocytic lymphohistiocytosis	KEGG: H00109
Hemophagocytic lymphohistiocytosis	OMIM: 170280
Aplastic anemia	OMIM: 170280
Multiple sclerosis	GAD: 18496551
Arthritis	GAD: 18311812
Autoimmune diseases	GAD: 16720836
Autoimmune diseases	GAD: 16720836
Diabetes	GAD: 18198357
Obesity	GAD: 19553259
Juvenile idiopathic arthritis	GAD: 20019066
Alzheimer's disease	GAD: 16385451
Sperm DNA damage	MIK: 16291969
Male factor infertility	MIK: 16403801
Non-Hodgkin lymphoma	OMIM: 170280
Male infertility	MIK: 16403801
Sperm DNA damage	MIK: 16291969
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16403801	Male infertility			193 (166 male infertility patients, 27 men of known fertility)	Male infertility	P1 P2
16291969	Sperm DNA damage			149 (37 patients with abnormally low P1/P2 ratios, 99 patients with normal P1/P2 ratios, 13 patients with abnormally high P1/P2 ratios)	Male infertility	P1 P2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)