NP_001076585.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
perforin-1
NCBI Official Synonym Full Names
perforin 1 (pore forming protein)
NCBI Protein Information
perforin-1; cytolysin; lymphocyte pore forming protein; lymphocyte pore-forming protein
UniProt Protein Name
Perforin-1
UniProt Synonym Protein Names
Cytolysin; Lymphocyte pore-forming protein; PFP
UniProt Synonym Gene Names
UniProt Entry Name
PERF_HUMAN
NCBI Summary for PRF1
The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
UniProt Comments for PRF1
PRF1: 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. Monomer, as sobluble protein. Homooligomer. Oligomerization is required for pore formation. Repressed by contact with target cells. Belongs to the complement C6/C7/C8/C9 family.
Protein type: Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 10q22
Cellular Component: membrane; cytoplasmic membrane-bound vesicle; plasma membrane; integral to membrane; extracellular region
Molecular Function: protein binding; calcium ion binding; wide pore channel activity
Biological Process: formation of immunological synapse; apoptosis; cytolysis; defense response to tumor cell; cellular defense response; immune response to tumor cell; transmembrane transport; defense response to virus; protein homooligomerization
Disease: Lymphoma, Non-hodgkin, Familial; Aplastic Anemia; Hemophagocytic Lymphohistiocytosis, Familial, 2
Research Articles on PRF1
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Products associated with anti-PRF1 antibody
Pathways associated with anti-PRF1 antibody
Diseases associated with anti-PRF1 antibody
Organs/Tissues associated with anti-PRF1 antibody
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