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perforin 1

Summary

Gene Symbol

PRF1

Organism

Homo sapiens (human)

External Links

NCBI Gene

5551

PubChem

5551

Alliance of Genome Resources

HGNC:9360

Annotation

Keyword

Calcium
Cell membrane
Cytolysis
Disease variant
Disulfide bond
EGF-like domain
Endosome
Familial hemophagocytic lymphohistiocytosis
Glycoprotein
Lysosome
Metal-binding
Reference proteome
Secreted
Signal
Transmembrane beta strand

Proteins

Displaying 1 entry
UniProt	Protein Name
P14222	Cytolysin Lymphocyte pore-forming protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 10** of 14 in total

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GO Term	Evidence Code	PMID
cellular defense response	TAS	10779745
granzyme-mediated programmed cell death signaling pathway	ISS
apoptotic process	TAS	10779745
defense response to virus	IBA ISS
defense response to tumor cell	ISS

GO Hierarchy

biological process

immune system process [inference]

immune effector process [inference]

leukocyte mediated immunity [inference]

leukocyte mediated cytotoxicity [inference]

T cell mediated cytotoxicity

lymphocyte mediated immunity [inference]

T cell mediated immunity [inference]

T cell mediated cytotoxicity

immune response [inference]

adaptive immune response [inference]

adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains [inference]

T cell mediated immunity [inference]

T cell mediated cytotoxicity

immune response to tumor cell

cellular process [inference]

cell killing [inference]

leukocyte mediated cytotoxicity [inference]

T cell mediated cytotoxicity

killing of cells of another organism

signal transduction [inference]

granzyme-mediated programmed cell death signaling pathway

cell recognition [inference]

cell-cell recognition [inference]

immunological synapse formation

cell death [inference]

programmed cell death [inference]

apoptotic process

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

transmembrane transport [inference]

protein transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization

export from cell [inference]

secretion by cell [inference]

protein secretion

biological process involved in interspecies interaction between organisms [inference]

modulation of process of another organism [inference]

regulation of killing of cells of another organism [inference]

positive regulation of killing of cells of another organism

response to other organism [inference]

response to virus [inference]

defense response to virus

defense response to other organism [inference]

defense response to symbiont [inference]

defense response to virus

disruption of anatomical structure in another organism [inference]

disruption of cell in another organism [inference]

killing of cells of another organism

response to stimulus [inference]

response to stress [inference]

defense response [inference]

defense response to other organism [inference]

defense response to symbiont [inference]

defense response to virus

immune response [inference]

adaptive immune response [inference]

adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains [inference]

T cell mediated immunity [inference]

T cell mediated cytotoxicity

immune response to tumor cell

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

defense response to virus

defense response to other organism [inference]

defense response to symbiont [inference]

defense response to virus

response to biotic stimulus [inference]

response to tumor cell [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

defense response to virus

defense response to other organism [inference]

defense response to symbiont [inference]

defense response to virus

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

establishment of localization [inference]

transport [inference]

secretion [inference]

secretion by cell [inference]

protein secretion

transmembrane transport [inference]

protein transmembrane transport

organic substance transport [inference]

protein transport [inference]

nitrogen compound transport [inference]

protein transport [inference]

export from cell [inference]

secretion by cell [inference]

protein secretion

establishment of protein localization [inference]

protein transport [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell killing [inference]

positive regulation of killing of cells of another organism

positive regulation of programmed cell death [inference]

positive regulation of killing of cells of another organism

regulation of cellular process [inference]

signal transduction [inference]

granzyme-mediated programmed cell death signaling pathway

regulation of cell killing [inference]

positive regulation of cell killing [inference]

positive regulation of killing of cells of another organism

regulation of killing of cells of another organism [inference]

positive regulation of killing of cells of another organism

regulation of programmed cell death [inference]

positive regulation of programmed cell death [inference]

positive regulation of killing of cells of another organism

positive regulation of cellular process [inference]

positive regulation of cell killing [inference]

positive regulation of killing of cells of another organism

positive regulation of programmed cell death [inference]

positive regulation of killing of cells of another organism

Displaying entries **6 - 8** of 8 in total

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GO Term	Evidence Code	PMID
cytolytic granule	IDA ISS	24088571 9756476
immunological synapse	ISS
cytosol	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

cytolytic granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

cytolytic granule lumen

endosome lumen

cytoplasmic vesicle lumen [inference]

cytolytic granule lumen

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome [inference]

cytolytic granule

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome [inference]

cytolytic granule

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein binding	IPI	11911826 25416956 32296183
pore-forming activity	IEA
identical protein binding	IPI	21037563 21685908
wide pore channel activity	IBA IDA	20038786 20889983 24558045
calcium ion binding	ISS

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

passive transmembrane transporter activity [inference]

channel activity [inference]

wide pore channel activity

binding [inference]

protein binding

identical protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

pore-forming activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

macpf domain-containing protein

Functional Category

K: Transcription
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
plant-type hypersensitive response
regulation of salicylic acid mediated signaling pathway

Displaying 1 entry
InterPro
Membrane attack complex component/perforin (MACPF) domain

Disease

Disease Ontology

Displaying entries **1 - 10** of 15 in total

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DO ID	Disease Name	Source
DOID:0060060	non-Hodgkin lymphoma	Alliance of Genome Resources
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2	Alliance of Genome Resources
DOID:12449	aplastic anemia	Alliance of Genome Resources
DOID:13636	Fanconi anemia	Alliance of Genome Resources
DOID:1520	colon carcinoma	Alliance of Genome Resources
DOID:2377	multiple sclerosis	Alliance of Genome Resources
DOID:2841	asthma	Alliance of Genome Resources
DOID:2920	membranoproliferative glomerulonephritis	Alliance of Genome Resources
DOID:2921	glomerulonephritis	Alliance of Genome Resources
DOID:4330	non-Langerhans-cell histiocytosis	Alliance of Genome Resources

Ortholog

Displaying entries **91 - 99** of 99 in total

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Species	Gene ID	OrthoDB	Orthologous MAtrix
Gadus morhua	115536985		GADMO40409
Sparus aurata	115575279		SPAAU02846
Sparus aurata	115576395		SPAAU02846
Rhinolophus ferrumequinum	117035789		RHIFE20321
Balaenoptera musculus	118882749		BALMU15552
Panthera leo	122202447		PANLE03112
Salmo salar	123743421		SALSA128061
Ursus americanus	123782929		URSAM16184
Pongo pygmaeus	129006066	9600_0:002a70