Recombinant Human Perforin protein (ab114201)
Key features and details
- Expression system: Wheat germ
- Suitable for: SDS-PAGE, WB, ELISA
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Product name
Recombinant Human Perforin protein -
Expression system
Wheat germ -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
PCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDG TCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDA ARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFST DTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGT HFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGS ISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAG PEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDR ARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTF IQAWGLWGDWFTATDAYVKLFLGGQELRTSTVWDNNNPIWSVRLDFGDVL LATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRY HARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW -
Predicted molecular weight
85 kDa including tags -
Amino acids
22 to 555
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Preparation and Storage
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Alternative names
- Cytolysin
- FLH2
- HPLH2
see all -
Function
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. -
Involvement in disease
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. -
Sequence similarities
Belongs to the complement C6/C7/C8/C9 family.
Contains 1 C2 domain.
Contains 1 EGF-like domain.
Contains 1 MACPF domain. -
Domain
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. -
Post-translational
modificationsN-glycosylated. -
Cellular localization
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. - Information by UniProt
Images
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Western blot - Recombinant Human Perforin protein (ab114201)ab114201 on 12.5% SDS-PAGE stained with Coomassie Blue.