Short communicationHuman perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10
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Cited by (28)
Pore-forming proteins and their role in cancer and inflammation: Mechanistic insights and plausible druggable targets
2022, Chemico-Biological InteractionsCitation Excerpt :Perforin gene sequence consists of three exons; one at its 5’ end acts as a non-coding sequence along with an intron of 1.86 kb which is followed by two more exons further. The study of transcription of perforin genes and complement C9 genes revealed certain similarities in their sequence of amino acids; 124 amino acids in the C terminal and 43 amino acids in the N terminal are unique for perforin [18,21–24]. Human perforin has 68% homology with Murine PFP, especially over the amino acid sequences 191–251, which codes for membrane-spanning domain called MACPF Domain.
Identification and functional analysis of the perforin-1 like gene in disease resistance in half smooth tongue sole (Cynoglossus semilaevis)
2021, Developmental and Comparative ImmunologyCitation Excerpt :In 1984, a perforin isolated from NKs and CTLs was first characterized as a lytic pore-forming protein (Podack and E., 1984). The perforin gene of humans is 6218 bp in length and contains 3 exons and 2 introns (Fink et al., 1992; Li et al., 2018); the corresponding mature protein is ~70 kDa and is composed of 534 amino acids (Lichtenheld et al., 1988; Lowrey et al., 1989). Important functional regions, including the MACPF and C2 domains, 20 conserved cysteines and potential N-linked glycosylation sites are all conserved in human and mouse perforins (Athanasopoulou et al., 2009; Michael et al., 2013).
Large B-cell lymphoma presenting primarily in bone marrow is frequently associated with haemophagocytic lymphohistiocytosis and has distinct cytogenetic features
2020, PathologyCitation Excerpt :Cases with chromosome 10 abnormalities had significant risk of HLH. A gene mutation known to be associated with familial HLH, namely the PRF1 gene, is located on chromosome 10.32–34 The high frequency of acquired abnormal chromosome 10 may contribute to the occurrence of HLH and could also indicate that primary BM LBCL is a distinct variant.
Cell membrane damage in lymphocyte-mediated cytolysis. Role of lymphocyte pore-forming protein perforin
1996, Biomembranes: A Multi-Volume Treatise