{ "uniprot_canonical_ac": "P10144-1", "uniprot_ac": "P10144", "uniprot_id": "GRAB_HUMAN", "mass": { "chemical_mass": 27716.0, "monoisotopic_mass": 27716.0 }, "refseq": { "ac": "NP_004122", "name": "granzyme B isoform 1 preproprotein", "summary": "This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122" }, "gene_names": [ { "name": "GZMB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10144", "id": "P10144" }, { "name": "C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1; CTSGL1; HLP; SECT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122", "id": "NP_004122" }, { "name": "CGL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10144", "id": "P10144" }, { "name": "CSPB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10144", "id": "P10144" }, { "name": "CTLA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10144", "id": "P10144" }, { "name": "GRB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10144", "id": "P10144" }, { "name": "GZMB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122", "id": "NP_004122" }, { "name": "hCG_40183", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10144", "id": "P10144" } ], "protein_names": [ { "name": "Granzyme B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10144" }, { "name": "3.4.21.79", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "C11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "CTLA-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "CTSGL1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "Cathepsin G-like 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "Cytotoxic T-lymphocyte proteinase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "Fragmentin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "Granzyme-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "HLP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "Human lymphocyte protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "Lymphocyte protease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "SECT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "T-cell serine protease 1-3E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10144" }, { "name": "fragmentin 2; cathepsin G-like 1; T-cell serine protease 1-3E; cytotoxic serine protease B; human lymphocyte protein; cytotoxic T-lymphocyte proteinase 2; granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122", "id": "NP_004122" }, { "name": "granzyme B isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122", "id": "NP_004122" } ], "function": [ { "annotation": "A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_004122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122" }, { "database": "PubMed", "id": "37247083", "url": "https://glygen.org/publication/PubMed/37247083" } ] }, { "annotation": "Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent pyroptosis when delivered into the target cell through the immunological synapse (PubMed:3262682, PubMed:3263427, PubMed:1985927). It cleaves after Asp (PubMed:8258716, PubMed:1985927). Once delivered into the target cell, acts by catalyzing cleavage of gasdermin-E (GSDME), releasing the pore-forming moiety of GSDME, thereby triggering pyroptosis and target cell death (PubMed:32188940, PubMed:31953257). Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -9 and -10 (CASP3, CASP9 and CASP10, respectively) to give rise to active enzymes mediating apoptosis (PubMed:9852092). Cleaves and activates CASP7 in response to bacterial infection, promoting plasma membrane repair (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144#function" }, { "database": "PubMed", "id": "3263427", "url": "https://glygen.org/publication/PubMed/3263427" }, { "database": "PubMed", "id": "3262682", "url": "https://glygen.org/publication/PubMed/3262682" }, { "database": "PubMed", "id": "8258716", "url": "https://glygen.org/publication/PubMed/8258716" }, { "database": "PubMed", "id": "1985927", "url": "https://glygen.org/publication/PubMed/1985927" }, { "database": "PubMed", "id": "9852092", "url": "https://glygen.org/publication/PubMed/9852092" }, { "database": "PubMed", "id": "32188940", "url": "https://glygen.org/publication/PubMed/32188940" }, { "database": "PubMed", "id": "31953257", "url": "https://glygen.org/publication/PubMed/31953257" }, { "database": "UniProtKB", "id": "P04187", "url": "https://www.uniprot.org/uniprot/P04187#function" } ] }, { "annotation": "Clonally expanded, thyrotoxic effector CD8[+] T cells driven by IL-21 contribute to checkpoint inhibitor thyroiditis.", "evidence": [ { "database": "RefSeq", "id": "NP_004122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122" }, { "database": "PubMed", "id": "37196065", "url": "https://glygen.org/publication/PubMed/37196065" } ] }, { "annotation": "Does the expression of granzyme B participate in inflammation, fibrosis, and fertility of hydatid cysts? Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122" }, { "database": "PubMed", "id": "38072840", "url": "https://glygen.org/publication/PubMed/38072840" } ] }, { "annotation": "Molecular and clinicopathological features of granzyme B-negative extranodal NK/T-cell lymphoma. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122" }, { "database": "PubMed", "id": "38000677", "url": "https://glygen.org/publication/PubMed/38000677" } ] }, { "annotation": "The mRNA expression and secretion of granzyme B are up-regulated via the histamine H2 receptor in human CD4[+] T cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122" }, { "database": "PubMed", "id": "37470818", "url": "https://glygen.org/publication/PubMed/37470818" } ] }, { "annotation": "This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_004122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004122" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P10144", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10144" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 104, "end_pos": 104, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->KFS).", "chr_id": "14", "chr_pos": "24632351", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N104", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs377050414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377050414" }, { "id": "rs377050414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377050414" }, { "id": "rs377050414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377050414#frequency_tab" }, { "id": "rs377050414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377050414" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 134, "end_pos": 134, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKA->NKS).", "chr_id": "14", "chr_pos": "24632058", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10144", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10144" }, { "id": "rs138221069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138221069" }, { "id": "rs138221069", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138221069" }, { "id": "rs138221069", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138221069" }, { "id": "rs138221069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138221069#frequency_tab" }, { "id": "rs138221069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138221069" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 182, "end_pos": 182, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "14", "chr_pos": "24631914", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D182", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1226718040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226718040" }, { "id": "rs1226718040", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226718040#frequency_tab" }, { "id": "rs1226718040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226718040" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 71, "end_pos": 71, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->IVT).", "chr_id": "14", "chr_pos": "24632451", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N71", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1594828452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1594828452" }, { "id": "rs1594828452", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1594828452" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 73, "end_pos": 73, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVP).", "chr_id": "14", "chr_pos": "24632446", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T73", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "59.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100453" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "63.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100453" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "67.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100453" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100453" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "62.01", "present": "MEDIUM", 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10144" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P10144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10144" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "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", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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system cancer that arises in the head or neck region. 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"ENSP00000387385.3", "url": "https://www.ensembl.org/id/ENSP00000387385.3" } ] } }, { "isoform_ac": "P10144-1", "url": "", "sequence": { "sequence": "MQPILLLLAFLLLPRADAGEIIGGHEAKPHSRPYMAYLMIWDQKSLKRCGGFLIRDDFVLTAAHCWGSSINVTLGAHNIKEQEPTQQFIPVKRPIPHPAYNPKNFSNDIMLLQLERKAKRTRAVQPLRLPSNKAQVKPGQTCSVAGWGQTAPLGKHSHTLQEVKMTVQEDRKCESDLRHYYDSTIELCVGDPEIKKTSFKGDSGGPLVCNKVAQGIVSYGRNNGMPPRACTKVSSFVHWIKKTMKRY", "length": 247, "header": "sp|P10144-1|GRAB_HUMAN Isoform 1 of Granzyme B OS=Homo sapiens OX=9606 GN=GZMB PE=1 SV=2 CANONICAL=P10144-1" }, "locus": { "chromosome": "14", "start_pos": 24634160, "end_pos": 24631074, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000216341.9", "url": "https://www.ensembl.org/id/ENST00000216341.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000216341.4", "url": "https://www.ensembl.org/id/ENSP00000216341.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "P10144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10144#ptm_processing" }, { "id": "11325591", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11325591" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 175, "start_aa": "Ser", "end_pos": 175, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser175", "evidence": [ { "id": "P10144", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10144" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P10144", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10144" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 175, "start_aa": "Ser", "end_pos": 175, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser175", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "P10144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10144#ptm_processing" }, { "id": "11325591", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11325591" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Posttranslational N-myristoylation of BID as a molecular switch for targeting mitochondria and apoptosis.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Zha J, Weiler S, Oh KJ, Wei MC, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-75108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75108" } ], "reference": [ { "type": "PubMed", "id": "11099414", "url": "https://glygen.org/publication/PubMed/11099414" } ] }, { "title": "MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors.", "journal": "Nature genetics", "date": "2000", "authors": "Wu L, Aster JC, Blacklow SC, Lake R, Artavanis-Tsakonas S, Griffin JD", "evidence": [ { "database": "Reactome", "id": 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725371" } ], "reference": [ { "type": "PubMed", "id": "11169414", "url": "https://glygen.org/publication/PubMed/11169414" } ] }, { "title": "Crystal structure of the caspase activator human granzyme B, a proteinase highly specific for an Asp-P1 residue.", "journal": "Biological chemistry", "date": "2000", "authors": "Estebanez-Perpina E, Fuentes-Prior P, Belorgey D, Braun M, Kiefersauer R, Maskos K, Huber R, Rubin H, Bode W", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "reference": [ { "type": "PubMed", "id": "11209755", "url": "https://glygen.org/publication/PubMed/11209755" } ] }, { "title": "The three-dimensional structure of human granzyme B compared to caspase-3, key mediators of cell death with cleavage specificity for aspartic acid in P1.", "journal": "Chemistry & biology", "date": "2001", "authors": "Rotonda J, Garcia-Calvo M, Bull HG, Geissler WM, McKeever BM, Willoughby CA, Thornberry NA, Becker JW", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144#ptm_processing" }, { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "reference": [ { "type": "PubMed", "id": "11325591", "url": "https://glygen.org/publication/PubMed/11325591" } ] }, { "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": "Functional diversity among Notch1, Notch2, and Notch3 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"url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "granzyme-mediated programmed cell death signaling pathway", "id": "GO:0140507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140507", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" }, { "name": "cytolytic granule", "id": "GO:0044194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044194", "evidence": [ { "database": "UniProtKB", "id": "P10144", "url": "https://www.uniprot.org/uniprot/P10144" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 104, "end_pos": 106, "annotation": "n_glycosylation_sequon" }, { "start_pos": 71, "end_pos": 73, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-139893", "name": "Granzyme-B activates BID by cleavage", "equation": "", "summary": "GZMB (granzyme B) cleaves BID to produce a p15 truncated form of BID (tBID) (Alimonti et al. 2001).", "cellular_location": "cytosol", "input_participant_list": [ "R-HSA-50825" ], "output_participant_list": [], "enzyme_list": [ "P10144-1" ], "evidence": [ { "id": "R-HSA-139893", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139893" } ] }, { "id": "R-HSA-2976551", "name": "NOTCH2 stimulates GZMB transcription", "equation": "", "summary": "NOTCH2 coactivator complex together with CREB1 and EP300 stimulates transcription of GZMB (granzyme B), which is important for the cytotoxic function of CD8+ T-cells (Maekawa et al. 2008).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-2976052" ], "output_participant_list": [ "R-HSA-55915" ], "enzyme_list": [ "P10144-1", "Q09472-1" ], "evidence": [ { "id": "R-HSA-2976551", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2976551" } ] }, { "id": "R-HSA-9710263", "name": "GZMB cleaves GSDME", "equation": "", "summary": "Granzyme B (GZMB) belongs to a family of serine proteases stored in the cytotoxic granules of natural killer (NK) cells and cytotoxic T lymphocytes. GZMB weakly cleaves recombinant gasdermin E (GSDME) in vitro and in lysates from GSDME\u2011overexpressing human embryonic kidney 293T (HEK293T) cells (Zhang Z et al. 2020). Mutational analysis suggests that GZMB activates GSDME at the same site (D270) as caspase\u20113 (CASP3). In the presence of perforin (PFN), GZMB cleaved GSDME in human neuroblastoma SH\u2011SY5Y cells inducing pyroptotic cell death. Despite that direct targeting of GSDME by GZMB is not efficient, GSDME can be cleaved by CASP3. Activation of CASP3 by GZMB was also detected in GZMB +PFN \u2011treated SH\u2011Y5Y cells (Zhang Z et al. 2020). In addition, human NK line YT or NK\u201192 triggered pyroptosis in GSDME\u2011overexpressing HeLa cells in both CASP3\u2011dependent and \u2011independent manners. The data suggest that GZMB released from killer cytotoxic lymphocytes may induce GSDME\u2011dependent lytic cell death in tumor targets via GZMB/CASP3\u2011mediated cleavage of GSDME (Zhang Z et al. 2020). Similar findings were reported for chimeric antigen receptor (CAR) T cells that release a large amount of PFN and GZMB and result in the activation of GSDME in B leukemic cells leading to cell pyroptosis (Liu Y et al. 2020).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10144-1" ], "evidence": [ { "id": "R-HSA-9710263", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9710263" } ] }, { "id": "R-HSA-9851088", "name": "JUNB- and NPM1-ALK-mediated GZMB gene expression", "equation": "", "summary": "Granzyme B (GZMB) is a member of a family of 5 cytotoxic GZMB protein that contribute to cell death in response to cancer and infection (reviewed in Arias et al, 2017; Tibbs and Cao, 2022). GZMB is expressed in NPM1-ALK cells in a manner that depends on JUNB binding to cognate sites in its promoter (Pearson et al, 2011).", "cellular_location": "nucleoplasm, cytolytic granule lumen", "input_participant_list": [], "output_participant_list": [ "R-HSA-6807037" ], "enzyme_list": [ "P10144-1" ], "evidence": [ { "id": "R-HSA-9851088", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9851088" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-2976052", "participant_name": "GZMB Gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000100453", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-50825", "participant_name": "BID(1-195) [cytosol]", "crossref": [ { "id": "P55957", "database": "UniProt", "url": "" }, { "id": "P55957", "database": "Pharos - Targets", "url": "" }, { "id": "2KBW", "database": "PDB", "url": "" }, { "id": "2M5B", "database": "PDB", "url": "" }, { "id": "NP_001231501.1", "database": "RefSeq", "url": "" }, 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