{ "uniprot_canonical_ac": "P14222-1", "uniprot_ac": "P14222", "uniprot_id": "PERF_HUMAN", "mass": { "chemical_mass": 61377.0, "monoisotopic_mass": 61377.0 }, "refseq": { "ac": "NP_001076585", "name": "perforin-1 precursor", "summary": "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" }, "gene_names": [ { "name": "PRF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14222", "id": "P14222" }, { "name": "HPLH2; P1; PFP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585", "id": "NP_001076585" }, { "name": "PFP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14222", "id": "P14222" }, { "name": "PRF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585", "id": "NP_001076585" } ], "protein_names": [ { "name": "Perforin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14222" }, { "name": "Cytolysin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14222" }, { "name": "Lymphocyte pore-forming protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14222" }, { "name": "P1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14222" }, { "name": "PFP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14222" }, { "name": "cytolysin; lymphocyte pore-forming protein; perforin 1 (pore forming protein)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585", "id": "NP_001076585" }, { "name": "perforin-1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585", "id": "NP_001076585" } ], "function": [ { "annotation": "Baseline red blood cell distribution width and perforin, dynamic levels of interleukin 6 and lactate are predictors of mortality in patients with sepsis.", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" }, { "database": "PubMed", "id": "36631067", "url": "https://glygen.org/publication/PubMed/36631067" } ] }, { "annotation": "Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" }, { "database": "PubMed", "id": "37149695", "url": "https://glygen.org/publication/PubMed/37149695" } ] }, { "annotation": "Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" }, { "database": "PubMed", "id": "37390248", "url": "https://glygen.org/publication/PubMed/37390248" } ] }, { "annotation": "Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells (PubMed:9058810, PubMed:9164947, PubMed:20889983, PubMed:24558045, PubMed:21037563). 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 (PubMed:9058810). Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores (PubMed:20889983, PubMed:21037563). Promotes cytolysis and apoptosis of target cells by mediating the passage and uptake of cytotoxic granzymes (PubMed:20038786, PubMed:20225066, PubMed:24558045, PubMed:32299851). Facilitates the delivery of cationic cargo protein, while anionic or neural proteins are not delivered efficiently (PubMed:24558045). Perforin pores allow the release of mature caspase-7 (CASP7) into the extracellular milieu (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P14222", "url": "https://www.uniprot.org/uniprot/P14222#function" }, { "database": "PubMed", "id": "20038786", "url": "https://glygen.org/publication/PubMed/20038786" }, { "database": "PubMed", "id": "21037563", "url": "https://glygen.org/publication/PubMed/21037563" }, { "database": "PubMed", "id": "20225066", "url": "https://glygen.org/publication/PubMed/20225066" }, { "database": "PubMed", "id": "9164947", "url": "https://glygen.org/publication/PubMed/9164947" }, { "database": "PubMed", "id": "9058810", "url": "https://glygen.org/publication/PubMed/9058810" }, { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820#function" }, { "database": "PubMed", "id": "20889983", "url": "https://glygen.org/publication/PubMed/20889983" }, { "database": "PubMed", "id": "32299851", "url": "https://glygen.org/publication/PubMed/32299851" }, { "database": "PubMed", "id": "24558045", "url": "https://glygen.org/publication/PubMed/24558045" } ] }, { "annotation": "Study focuses on the role of perforin in both protecting and promoting human disease. It concludes with a novel hypothesis that diversity observed in the PRF1 gene may be an example of selective advantage that protects an individual from perforin-mediated pathology, such as blood-brain barrier disruption. [review] Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" }, { "database": "PubMed", "id": "28757574", "url": "https://glygen.org/publication/PubMed/28757574" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" } ] }, { "annotation": "[Gene Polymorphisms of Patients with Lymphoma-Associated Hemophagocytic Syndrome in Longyan area, Fujian Province].", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" }, { "database": "PubMed", "id": "36765484", "url": "https://glygen.org/publication/PubMed/36765484" } ] } ], "disease": [ { "disease_id": "DOID:0110922", "recommended_name": { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "familial hemophagocytic lymphohistiocytosis 2", "description": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1." }, "synonyms": [ { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "FHL2", "description": "" }, { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "HLH2", "description": "" }, { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "HPLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "familial hemophagocytic lymphohistiocytosis 2", "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "FHL2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "HLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "HPLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "PRF1 genetic hemophagocytic lymphohistiocytosis", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "familial hemophagocytic lymphohistiocytosis type 2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "hemophagocytic lymphohistiocytosis, familial, type 2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "Hlh2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "Hplh2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "hemophagocytic lymphohistiocytosis, familial, 2", "description": "" }, { "id": "MIM:603553", "resource": "MIM", "url": "https://www.omim.org/entry/603553", "name": "Hemophagocytic lymphohistiocytosis, familial, 2", "description": "Hemophagocytic lymphohistiocytosis, familial, 2" } ], "evidence": [ { "id": "603553", "database": "MIM", "url": "https://www.omim.org/entry/603553" } ] } ], "snv": [ { "evidence": [ { "id": "rs768849283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768849283" }, { "id": "rs768849283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768849283" }, { "id": "rs768849283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768849283#frequency_tab" }, { "id": "rs768849283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768849283" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 129, "end_pos": 129, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDW->NDS).", "chr_id": "10", "chr_pos": "70600517", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W129", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110922", "recommended_name": { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "familial hemophagocytic lymphohistiocytosis 2", "description": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1." }, "synonyms": [ { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "FHL2", "description": "" }, { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "HLH2", "description": "" }, { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "HPLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "familial hemophagocytic lymphohistiocytosis 2", "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "FHL2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "HLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "HPLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "PRF1 genetic hemophagocytic lymphohistiocytosis", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "familial hemophagocytic lymphohistiocytosis type 2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "hemophagocytic lymphohistiocytosis, familial, type 2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "Hlh2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "Hplh2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "hemophagocytic lymphohistiocytosis, familial, 2", "description": "" }, { "id": "MIM:603553", "resource": "MIM", "url": "https://www.omim.org/entry/603553", "name": "Hemophagocytic lymphohistiocytosis, familial, 2", "description": "Hemophagocytic lymphohistiocytosis, familial, 2" } ] } ] }, { "evidence": [ { "id": "rs779399414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779399414" }, { "id": "rs779399414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779399414" }, { "id": "rs779399414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779399414#frequency_tab" }, { "id": "rs779399414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779399414" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "10", "chr_pos": "70600400", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1455960914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455960914" }, { "id": "rs1455960914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1455960914#frequency_tab" }, { "id": "rs1455960914", "database": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P14222", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14222" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14222" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"sequence": "MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW", "length": 555, "header": "sp|P14222-1|PERF_HUMAN Isoform 1 of Perforin-1 OS=Homo sapiens OX=9606 GN=PRF1 PE=1 SV=1 CANONICAL=P14222-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PR25-1", "url": "", "sequence": { "sequence": "MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSSSAIVSASGFYMWPNTILLPTWPREAKRLDTHQTDGKGRFRLFFREVAGFTR", "length": 232, "header": "tr|A0A1W2PR25-1|PERF_HUMAN Computationally mapped isoform of Perforin-1 OS=Homo sapiens OX=9606 GN=PRF1 PE=1 SV=1 CANONICAL=P14222-1" }, "locus": { "chromosome": "10", "start_pos": 70600902, "end_pos": 70597685, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638674.1", "url": "https://www.ensembl.org/id/ENST00000638674.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492048.1", "url": "https://www.ensembl.org/id/ENSP00000492048.1" } ] } }, { "isoform_ac": "P14222-1", "url": "", "sequence": { "sequence": "MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW", "length": 555, "header": "sp|P14222-1|PERF_HUMAN Isoform 1 of Perforin-1 OS=Homo sapiens OX=9606 GN=PRF1 PE=1 SV=1 CANONICAL=P14222-1" }, "locus": { "chromosome": "10", "start_pos": 70600902, "end_pos": 70598056, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441259.2", "url": "https://www.ensembl.org/id/ENST00000441259.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000398568.1", "url": "https://www.ensembl.org/id/ENSP00000398568.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "evidence": [ { "id": "P14222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14222#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 549, "start_aa": "Asn", "end_pos": 549, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn549", "evidence": [ { "id": "P14222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14222#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Perforin gene defects in familial hemophagocytic lymphohistiocytosis.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V", "evidence": [ { "database": "UniProtKB", "id": "P14222", "url": "https://www.uniprot.org/uniprot/P14222" } ], "reference": [ { "type": "PubMed", "id": "10583959", "url": "https://glygen.org/publication/PubMed/10583959" } ] }, { "title": "Induction, binding specificity and function of human ICOS.", "journal": "European journal of immunology", "date": "2000", "authors": "Beier KC, Hutloff A, Dittrich AM, Heuck C, Rauch A, Buchner K, Ludewig B, Ochs HD, Mages HW, Kroczek RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725371" } ], "reference": [ { "type": "PubMed", "id": "11169414", "url": "https://glygen.org/publication/PubMed/11169414" } ] }, { "title": "Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.", "journal": "American journal of human genetics", "date": "2001", "authors": "Goransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Soderhall C, Samuelsson A, Janka G, Schneider M, Gurgey A, Yalman N, Revesz T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjold M, Henter J", "evidence": [ { "database": "UniProtKB", "id": "P14222", "url": "https://www.uniprot.org/uniprot/P14222" } ], "reference": [ { "type": "PubMed", "id": "11179007", "url": "https://glygen.org/publication/PubMed/11179007" } ] }, { "title": "Multilevel dysregulation of STAT3 activation in anaplastic lymphoma kinase-positive T/null-cell lymphoma.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Zhang Q, Raghunath PN, Xue L, Majewski M, Carpentieri DF, Odum N, Morris S, Skorski T, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725371" } ], "reference": [ { "type": "PubMed", "id": "11751994", "url": "https://glygen.org/publication/PubMed/11751994" } ] }, { "title": "Identification and characterization of a nuclear interacting partner of anaplastic lymphoma kinase (NIPA).", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ouyang T, Bai RY, Bassermann F, von Klitzing C, Klumpen S, Miething C, Morris SW, Peschel C, Duyster J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725371", "url": 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lactate are predictors of mortality in patients with sepsis.", "journal": "Journal of clinical laboratory analysis", "date": "2023-02", "authors": "Li Xin, Yin Zhongnan, Yan Wei, Wang Meng, Xue Lixiang, Zhou Qingtao, Sun Yongchang", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" } ], "reference": [ { "type": "PubMed", "id": "36631067", "url": "https://glygen.org/publication/PubMed/36631067" } ] }, { "title": "[Gene Polymorphisms of Patients with Lymphoma-Associated Hemophagocytic Syndrome in Longyan area, Fujian Province].", "journal": "Zhongguo shi yan xue ye xue za zhi", "date": "2023-02", "authors": "Wu Wei-Hao, Chen Cong-Jie, Yu Lian, Ma Xiao-Mei, Huang Jian-Qing, Chen Long-Tian", "evidence": [ { "database": "RefSeq", "id": "NP_001076585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076585" } ], "reference": [ { "type": "PubMed", "id": "36765484", "url": "https://glygen.org/publication/PubMed/36765484" } 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Immunol.", "date": "1996", "authors": "Goebel W S, Schloemer R H, Brahmi Z", "evidence": [ { "database": "UniProtKB", "id": "P14222", "url": "https://www.uniprot.org/uniprot/P14222" } ], "reference": [ { "type": "PubMed", "id": "8676885", "url": "https://glygen.org/publication/PubMed/8676885" } ] }, { "title": "Human autoreactive CD4+ T cell clones use perforin- or Fas/Fas ligand-mediated pathways for target cell lysis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1997-03-15", "authors": "Vergelli M, Hemmer B, Muraro P A, Tranquill L, Biddison W E, Sarin A, McFarland H F, Martin R", "evidence": [ { "database": "UniProtKB", "id": "P14222", "url": "https://www.uniprot.org/uniprot/P14222" } ], "reference": [ { "type": "PubMed", "id": "9058810", "url": "https://glygen.org/publication/PubMed/9058810" } ] }, { "title": "Perforin, Fas/Fas ligand, and TNF-alpha pathways as specific and bystander killing mechanisms of hepatitis C virus-specific human CTL.", "journal": 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