Entity Details

Primary name PERF_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP14222
EntryNamePERF_HUMAN
FullNamePerforin-1
TaxID9606
Evidenceevidence at protein level
Length555
SequenceStatuscomplete
DateCreated1990-01-01
DateModified2021-06-02

Ontological Relatives

GenesPRF1

GO terms

Show/Hide Table
GOName
GO:0001771 immunological synapse formation
GO:0001913 T cell mediated cytotoxicity
GO:0002357 defense response to tumor cell
GO:0002418 immune response to tumor cell
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006915 apoptotic process
GO:0006968 cellular defense response
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019835 cytolysis
GO:0022829 wide pore channel activity
GO:0031904 endosome lumen
GO:0042802 identical protein binding
GO:0044194 cytolytic granule
GO:0051260 protein homooligomerization
GO:0051607 defense response to virus
GO:0051712 positive regulation of killing of cells of other organism

Subcellular Location

Show/Hide Table
Subcellular Location
Cell membrane
Cytolytic granule
Endosome lumen
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR000008 C2 domainDomainDomain
IPR020863 Membrane attack complex component/perforin domain, conserved siteSiteConserved site
IPR020864 Membrane attack complex component/perforin (MACPF) domainDomainDomain
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR037300 Perforin-1, C2 domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
603553 OMIMHemophagocytic lymphohistiocytosis, familial, 2 (FHL2)A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. The disease is caused by variants affecting the gene represented in this entry.