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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 **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
immunological synapse formation	IDA	21438968
immunological synapse formation	IBA
T cell mediated cytotoxicity	ISS
T cell mediated cytotoxicity	IBA
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 **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
immunological synapse	ISS
extracellular region	IEA
cytosol	IDA
plasma membrane	IDA	20038786 21037563
membrane	IDA	20889983

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 entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
calcium ion binding	ISS
protein binding	IPI	11911826 25416956 32296183
wide pore channel activity	IDA	20038786 20889983 24558045
wide pore channel activity	IBA
identical protein binding	IPI	21037563 21685908

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 **all 7** entries
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:2377	multiple sclerosis	Alliance of Genome Resources
DOID:4330	non-Langerhans-cell histiocytosis	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease	Alliance of Genome Resources
DOID:8778	Crohn's disease	Alliance of Genome Resources

Ortholog

Displaying entries **61 - 70** of 92 in total

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Species	Gene ID	Orthologous MAtrix
Ictalurus punctatus	108280689	ICTPU24330
Ictalurus punctatus	108280700	ICTPU24324
Ictalurus punctatus	108280710	ICTPU24326
Ictalurus punctatus	108280715	ICTPU24325
Ictalurus punctatus	108280723	ICTPU24329
Ictalurus punctatus	108280734	ICTPU24327
Rhinopithecus bieti	108530336	RHIBE08065
Cyprinus carpio carpio	109060352	CYPCA04356
Oreochromis niloticus	109202044	ORENI55354
Phascolarctos cinereus	110200078	PHACI05748