{ "uniprot_canonical_ac": "P12544-1", "uniprot_ac": "P12544", "uniprot_id": "GRAA_HUMAN", "mass": { "chemical_mass": 28999.0, "monoisotopic_mass": 28999.0 }, "refseq": { "ac": "NP_006135", "name": "granzyme A precursor", "summary": "Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" }, "gene_names": [ { "name": "GZMA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12544", "id": "P12544" }, { "name": "CTLA3; HFSP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135", "id": "NP_006135" }, { "name": "CTLA3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12544", "id": "P12544" }, { "name": "GZMA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135", "id": "NP_006135" }, { "name": "HFSP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12544", "id": "P12544" } ], "protein_names": [ { "name": "Granzyme A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12544" }, { "name": "3.4.21.78", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "CTL tryptase; Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease); granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3); HF; h factor; fragmentin-1; cytotoxic T-lymphocyte proteinase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135", "id": "NP_006135" }, { "name": "CTL tryptase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "Cytotoxic T-lymphocyte proteinase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "Fragmentin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "Granzyme-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "H factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "HF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "Hanukkah factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12544" }, { "name": "granzyme A precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135", "id": "NP_006135" } ], "function": [ { "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:3257574, PubMed:3262682, PubMed:3263427, PubMed:32299851, PubMed:12819770). It cleaves after Lys or Arg (PubMed:32299851, PubMed:12819770). Once delivered into the target cell, acts by catalyzing cleavage of gasdermin-B (GSDMB), releasing the pore-forming moiety of GSDMB, thereby triggering pyroptosis and target cell death (PubMed:32299851, PubMed:34022140, PubMed:36157507, PubMed:36899106). Cleaves APEX1 after 'Lys-31' and destroys its oxidative repair activity (PubMed:12524539). Cleaves the nucleosome assembly protein SET after 'Lys-189', which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA (PubMed:11555662, PubMed:12628186, PubMed:16818237).", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544#function" }, { "database": "PubMed", "id": "3263427", "url": "https://glygen.org/publication/PubMed/3263427" }, { "database": "PubMed", "id": "12524539", "url": "https://glygen.org/publication/PubMed/12524539" }, { "database": "PubMed", "id": "16818237", "url": "https://glygen.org/publication/PubMed/16818237" }, { "database": "PubMed", "id": "3257574", "url": "https://glygen.org/publication/PubMed/3257574" }, { "database": "PubMed", "id": "12819770", "url": "https://glygen.org/publication/PubMed/12819770" }, { "database": "PubMed", "id": "3262682", "url": "https://glygen.org/publication/PubMed/3262682" }, { "database": "PubMed", "id": "32299851", "url": "https://glygen.org/publication/PubMed/32299851" }, { "database": "PubMed", "id": "11555662", "url": "https://glygen.org/publication/PubMed/11555662" }, { "database": "PubMed", "id": "12628186", "url": "https://glygen.org/publication/PubMed/12628186" }, { "database": "PubMed", "id": "36157507", "url": "https://glygen.org/publication/PubMed/36157507" }, { "database": "PubMed", "id": "34022140", "url": "https://glygen.org/publication/PubMed/34022140" }, { "database": "PubMed", "id": "36899106", "url": "https://glygen.org/publication/PubMed/36899106" } ] }, { "annotation": "Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" } ] }, { "annotation": "Elevated Extracellular Levels of Granzymes in Patients with Scrub Typhus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" }, { "database": "PubMed", "id": "34634775", "url": "https://glygen.org/publication/PubMed/34634775" } ] }, { "annotation": "Granzyme A Produced by gamma9delta2 T Cells Activates ER Stress Responses and ATP Production, and Protects Against Intracellular Mycobacterial Replication Independent of Enzymatic Activity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" }, { "database": "PubMed", "id": "34413857", "url": "https://glygen.org/publication/PubMed/34413857" } ] }, { "annotation": "Heterogeneity induced GZMA-F2R communication inefficient impairs antitumor immunotherapy of PD-1 mAb through JAK2/STAT1 signal suppression in hepatocellular carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" }, { "database": "PubMed", "id": "35256589", "url": "https://glygen.org/publication/PubMed/35256589" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P12544", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12544" } ], "glycoeffect": [], "start_pos": 111, "end_pos": 111, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "55107909", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R111", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1174128297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174128297" }, { "id": "rs1174128297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174128297" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 129, "end_pos": 129, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12544", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12544" } ], "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": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "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": "P12544", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12544" } ], "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12544", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12544" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P12544", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12544" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRNSYRFLASSLSVVVSLLLIPEDVCEKIIGGNEVTPHSRPYMVLLSLDRKTICAGALIAKDWVLTAAHCNLNKRSQVILGAHSITREEPTKQIMLVKKEFPYPCYDPATREGDLKLLQLMEKAKINKYVTILHLPKKGDDVKPGTMCQVAGWGRTHNSASWSDTLREVNITIIDRKVCNDRNHYNFNPVIGMNMVCAGSLRGGRDSCNGDSGSPLLCEGVFRGVTSFGLENKCGDPRGPGVYILLSKKHLNWIIMTIKGAV", "length": 262, "header": "sp|P12544-1|GRAA_HUMAN Isoform 1 of Granzyme A OS=Homo sapiens OX=9606 GN=GZMA PE=1 SV=2 CANONICAL=P12544-1" }, "isoforms": [ { "isoform_ac": "P12544-1", "url": "", "sequence": { "sequence": "MRNSYRFLASSLSVVVSLLLIPEDVCEKIIGGNEVTPHSRPYMVLLSLDRKTICAGALIAKDWVLTAAHCNLNKRSQVILGAHSITREEPTKQIMLVKKEFPYPCYDPATREGDLKLLQLMEKAKINKYVTILHLPKKGDDVKPGTMCQVAGWGRTHNSASWSDTLREVNITIIDRKVCNDRNHYNFNPVIGMNMVCAGSLRGGRDSCNGDSGSPLLCEGVFRGVTSFGLENKCGDPRGPGVYILLSKKHLNWIIMTIKGAV", "length": 262, "header": "sp|P12544-1|GRAA_HUMAN Isoform 1 of Granzyme A OS=Homo sapiens OX=9606 GN=GZMA PE=1 SV=2 CANONICAL=P12544-1" }, "locus": { "chromosome": "5", "start_pos": 55110179, "end_pos": 55102683, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000274306.7", "url": "https://www.ensembl.org/id/ENST00000274306.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000274306.6", "url": "https://www.ensembl.org/id/ENSP00000274306.6" } ] } }, { "isoform_ac": "P12544-2", "url": "", "sequence": { "sequence": "MTKGLRDVCEKIIGGNEVTPHSRPYMVLLSLDRKTICAGALIAKDWVLTAAHCNLNKRSQVILGAHSITREEPTKQIMLVKKEFPYPCYDPATREGDLKLLQLMEKAKINKYVTILHLPKKGDDVKPGTMCQVAGWGRTHNSASWSDTLREVNITIIDRKVCNDRNHYNFNPVIGMNMVCAGSLRGGRDSCNGDSGSPLLCEGVFRGVTSFGLENKCGDPRGPGVYILLSKKHLNWIIMTIKGAV", "length": 245, "header": "sp|P12544-2|GRAA_HUMAN Isoform 2 of Granzyme A OS=Homo sapiens OX=9606 GN=GZMA PE=1 SV=2 CANONICAL=P12544-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 170, "start_aa": "Asn", "end_pos": 170, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn170", "evidence": [ { "id": "P12544", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12544#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Granzyme A activates an endoplasmic reticulum-associated caspase-independent nuclease to induce single-stranded DNA nicks.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Beresford PJ, Zhang D, Oh DY, Fan Z, Greer EL, Russo ML, Jaju M, Lieberman J", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "11555662", "url": "https://glygen.org/publication/PubMed/11555662" } ] }, { "title": "Cleaving the oxidative repair protein Ape1 enhances cell death mediated by granzyme A.", "journal": "Nature immunology", "date": "2003", "authors": "Fan Z, Beresford PJ, Zhang D, Xu Z, Novina CD, Yoshida A, Pommier Y, Lieberman J", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "12524539", "url": "https://glygen.org/publication/PubMed/12524539" } ] }, { "title": "Tumor suppressor NM23-H1 is a granzyme A-activated DNase during CTL-mediated apoptosis, and the nucleosome assembly protein SET is its inhibitor.", "journal": "Cell", "date": "2003", "authors": "Fan Z, Beresford PJ, Oh DY, Zhang D, Lieberman J", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "12628186", "url": "https://glygen.org/publication/PubMed/12628186" } ] }, { "title": "The oligomeric structure of human granzyme A is a determinant of its extended substrate specificity.", "journal": "Nature structural biology", "date": "2003", "authors": "Bell JK, Goetz DH, Mahrus S, Harris JL, Fletterick RJ, Craik CS", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "12819769", "url": "https://glygen.org/publication/PubMed/12819769" } ] }, { "title": "Crystal structure of the apoptosis-inducing human granzyme A dimer.", "journal": "Nature structural biology", "date": "2003", "authors": "Hink-Schauer C, Estebanez-Perpina E, Kurschus FC, Bode W, Jenne DE", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "12819770", "url": "https://glygen.org/publication/PubMed/12819770" } ] }, { "title": "The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death.", "journal": "Molecular cell", "date": "2006", "authors": "Chowdhury D, Beresford PJ, Zhu P, Zhang D, Sung JS, Demple B, Perrino FW, Lieberman J", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "16818237", "url": "https://glygen.org/publication/PubMed/16818237" } ] }, { "title": "Glucocorticoid-induced alternative promoter usage for a novel 5' variant of granzyme A.", "journal": "J. Hum. Genet.", "date": "2007", "authors": "Ruike Yoshinao, Katsuma Susumu, Hirasawa Akira, Tsujimoto Gozoh", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "17180578", "url": "https://glygen.org/publication/PubMed/17180578" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544#ptm_processing" }, { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Perforin activates clathrin- and dynamin-dependent endocytosis, which is required for plasma membrane repair and delivery of granzyme B for granzyme-mediated apoptosis.", "journal": "Blood", "date": "2010", "authors": "Thiery Jerome, Keefe Dennis, Saffarian Saviz, Martinvalet Denis, Walch Michael, Boucrot Emmanuel, Kirchhausen Tomas, Lieberman Judy", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "20038786", "url": "https://glygen.org/publication/PubMed/20038786" } ] }, { "title": "Human cytotoxic lymphocyte tryptase. Its purification from granules and the characterization of inhibitor and substrate specificity.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Poe M, Bennett C D, Biddison W E, Blake J T, Norton G P, Rodkey J A, Sigal N H, Turner R V, Wu J K, Zweerink H J", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "3047119", "url": "https://glygen.org/publication/PubMed/3047119" } ] }, { "title": "Granzyme A from cytotoxic lymphocytes cleaves GSDMB to trigger pyroptosis in target cells.", "journal": "Science (New York, N.Y.)", "date": "2020", "authors": "Zhou Z, He H, Wang K, Shi X, Wang Y, Su Y, Wang Y, Li D, Liu W, Zhang Y, Shen L, Han W, Shen L, Ding J, Shao F", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "32299851", "url": "https://glygen.org/publication/PubMed/32299851" } ] }, { "title": "Comparative molecular model building of two serine proteinases from cytotoxic T lymphocytes.", "journal": "Proteins", "date": "1988", "authors": "Murphy M E, Moult J, Bleackley R C, Gershenfeld H, Weissman I L, James M N", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "3237717", "url": "https://glygen.org/publication/PubMed/3237717" } ] }, { "title": "Cloning and chromosomal assignment of a human cDNA encoding a T cell- and natural killer cell-specific trypsin-like serine protease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988-02", "authors": "Gershenfeld H K, Hershberger R J, Shows T B, Weissman I L", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "3257574", "url": "https://glygen.org/publication/PubMed/3257574" } ] }, { "title": "Characterization of three serine esterases isolated from human IL-2 activated killer cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1988", "authors": "Hameed A, Lowrey DM, Lichtenheld M, Podack ER", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "3262682", "url": "https://glygen.org/publication/PubMed/3262682" } ] }, { "title": "Characterization of granzymes A and B isolated from granules of cloned human cytotoxic T lymphocytes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1988-11-15", "authors": "Kr\u00e4henb\u00fchl O, Rey C, Jenne D, Lanzavecchia A, Groscurth P, Carrel S, Tschopp J", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "3263427", "url": "https://glygen.org/publication/PubMed/3263427" } ] }, { "title": "Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions.", "journal": "Cell", "date": "2021-06-10", "authors": "Hansen Justin M, de Jong Maarten F, Wu Qi, Zhang Li-Shu, Heisler David B, Alto Laura T, Alto Neal M", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "34022140", "url": "https://glygen.org/publication/PubMed/34022140" } ] }, { "title": "Granzyme A Produced by gamma9delta2 T Cells Activates ER Stress Responses and ATP Production, and Protects Against Intracellular Mycobacterial Replication Independent of Enzymatic Activity.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Rasi V, Wood DC, Eickhoff CS, Xia M, Pozzi N, Edwards RL, Walch M, Bovenschen N, Hoft DF", "evidence": [ { "database": "RefSeq", "id": "NP_006135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" } ], "reference": [ { "type": "PubMed", "id": "34413857", "url": "https://glygen.org/publication/PubMed/34413857" } ] }, { "title": "Elevated Extracellular Levels of Granzymes in Patients with Scrub Typhus.", "journal": "The American journal of tropical medicine and hygiene", "date": "2021", "authors": "Hwang JH, Hwang JH, Lee CS", "evidence": [ { "database": "RefSeq", "id": "NP_006135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" } ], "reference": [ { "type": "PubMed", "id": "34634775", "url": "https://glygen.org/publication/PubMed/34634775" } ] }, { "title": "Heterogeneity induced GZMA-F2R communication inefficient impairs antitumor immunotherapy of PD-1 mAb through JAK2/STAT1 signal suppression in hepatocellular carcinoma.", "journal": "Cell death & disease", "date": "2022", "authors": "Gao Y, Xu Q, Li X, Guo Y, Zhang B, Jin Y, Zhu C, Shen Y, Yang P, Shi Y, Jin R, Liu D, Ouyang Y, Liu X, Wang W, Chen D, Yang T", "evidence": [ { "database": "RefSeq", "id": "NP_006135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006135" } ], "reference": [ { "type": "PubMed", "id": "35256589", "url": "https://glygen.org/publication/PubMed/35256589" } ] }, { "title": "GSDMB N-terminal assembles in plasma membrane to execute pyroptotic cell death.", "journal": "Genes & diseases", "date": "2022-11", "authors": "Gong Wenbin, Liu Peizhao, Liu Juanhan, Li Yangguang, Zheng Tao, Wu Xiuwen, Zhao Yun, Ren Jianan", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "36157507", "url": "https://glygen.org/publication/PubMed/36157507" } ] }, { "title": "Distinct GSDMB protein isoforms and protease cleavage processes differentially control pyroptotic cell death and mitochondrial damage in cancer cells.", "journal": "Cell death and differentiation", "date": "2023-03-11", "authors": "Oltra Sara S, Colomo Sara, Sin Laura, P\u00e9rez-L\u00f3pez Mar\u00eda, L\u00e1zaro Sara, Molina-Crespo Angela, Choi Kyoung-Han, Ros-Pardo David, Mart\u00ednez Lidia, Morales Saleta, Gonz\u00e1lez-Paramos Cristina, Orantes Alba, Soriano Mario, Hern\u00e1ndez Alberto, Lluch Ana, Rojo Federico, Albanell Joan, G\u00f3mez-Puertas Paulino, Ko Jae-Kyun, Sarri\u00f3 David, Moreno-Bueno Gema", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "reference": [ { "type": "PubMed", "id": "36899106", "url": "https://glygen.org/publication/PubMed/36899106" } ] } ], "pathway": [ { "id": "hsa:3001", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3001", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V7E3-1", "protein_name": "Granzyme A", "gene_name": "Gzma", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRNPCAPWVSSLTTVIFLLLIPEGGCERIIGGDTVVPHSRPYMVLLKLKPDSVCAGALIAKNWVLTAAHCIPGKKSEVILGAHSIKKEPEQQILSVKKAYPYPCFDKHTHEGDLQLLRLKKKATLNKNVAILHLPKKGDDVKPGTRCHVAGWGRFHNKSPPSDTLREVNITVIDRKICNDEKHYNFNPVIGLNMICAGNLRGGKDSCYGDSGGPLLCEGIFRGITAFGLEGTCGDPKGPGIYTLLSDKHLDWIRKTAKGAV", "length": 261 }, "evidence": [ { "id": "P12544", "url": "https://omabrowser.org/oma/group/P12544/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P11032-1", "protein_name": "Granzyme A", "gene_name": "Gzma", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRNASGPRGPSLATLLFLLLIPEGGCERIIGGDTVVPHSRPYMALLKLSSNTICAGALIEKNWVLTAAHCNVGKRSKFILGAHSINKEPEQQILTVKKAFPYPCYDEYTREGDLQLVRLKKKATVNRNVAILHLPKKGDDVKPGTRCRVAGWGRFGNKSAPSETLREVNITVIDRKICNDEKHYNFHPVIGLNMICAGDLRGGKDSCNGDSGSPLLCDGILRGITSFGGEKCGDRRWPGVYTFLSDKHLNWIKKIMKGSV", "length": 260 }, "evidence": [ { "id": "45921050", "url": "http://www.informatics.jax.org/homology/45921050", "database": "MGI" }, { "id": "P12544", "url": "https://omabrowser.org/oma/group/P12544/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "pyroptosis", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "negative regulation of endodeoxyribonuclease activity", "id": "GO:0032078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032078", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "negative regulation of oxidoreductase activity", "id": "GO:0051354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051354", "evidence": [ { "database": "UniProtKB", "id": "P12544", "url": "https://www.uniprot.org/uniprot/P12544" } ], "pmid": "" }, { "name": "negative regulation of DNA 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