perforin 1

Summary
Gene Symbol
  • PRF1
Organism
Homo sapiens (human)
NCBI Gene
5551
PubChem
5551
Alliance of Genome Resources
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
Gene Ontology (GO)
GO Hierarchy
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
Disease
Disease Ontology
Displaying all 7 entries
DO ID Disease Name Source
DOID:0060060 non-Hodgkin lymphoma
DOID:0110922 familial hemophagocytic lymphohistiocytosis 2
DOID:12449 aplastic anemia
DOID:2377 multiple sclerosis
DOID:4330 non-Langerhans-cell histiocytosis
DOID:526 human immunodeficiency virus infectious disease
DOID:8778 Crohn's disease

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025