Recombinant Human Perforin protein (ab114201)

関連情報

• 別名
  • Cytolysin
  • FLH2
  • HPLH2

  • Lymphocyte pore-forming protein
  • P1
  • PERF_HUMAN
  • Perforin 1
  • perforin 1 (pore forming protein)
  • Perforin-1
  • PFP
  • PGFL
  • PIGF
  • PIGF-2
  • PLGF
  • Pore forming protein
  • prf1
  • SHGC-10760

  see all
• 機能
  Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.
• 関連疾患
  Defects in PRF1 are the cause of hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]; also known as HPLH2. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes, spleen, and other organs is also found.
• 配列類似性
  Belongs to the complement C6/C7/C8/C9 family.
  Contains 1 C2 domain.
  Contains 1 EGF-like domain.
  Contains 1 MACPF domain.
• ドメイン
  The C2 domain mediates calcium-dependent binding to lipid membranes. A subsequent conformation change leads to membrane insertion of beta-hairpin structures and pore formation. The pore is formed by transmembrane beta-strands.
• 翻訳後修飾
  N-glycosylated.
• 細胞内局在
  Cytoplasmic granule lumen. Secreted. Cell membrane. Endosome lumen. Stored in cytoplasmic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell. Inserts into the cell membrane of target cells and forms pores. Membrane insertion and pore formation requires a major conformation change. May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes.

• Target information above from: UniProt accession P14222 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt