PRF1

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 occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]

Description

Perforin 1

Tissue specificity

Group enriched (bone marrow, lung, lymphoid tissue)

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

10 (70597348 - 70602759)

Ensembl ID

ENSG00000180644  (ver. 103.38)

Orthologs

Mouse Prf1: ENSMUSG00000037202

UniProt

P14222

neXtProt

NX_P14222

Human splice variants
Mouse splice variants

Protein structure