{ "uniprot_canonical_ac": "O75844-1", "uniprot_ac": "O75844", "uniprot_id": "FACE1_HUMAN", "mass": { "chemical_mass": 54813.0, "monoisotopic_mass": 54813.0 }, "refseq": { "ac": "NP_005848", "name": "CAAX prenyl protease 1 homolog", "summary": "This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" }, "gene_names": [ { "name": "ZMPSTE24", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75844", "id": "O75844" }, { "name": "FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24; Ste24p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848", "id": "NP_005848" }, { "name": "FACE1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75844", "id": "O75844" }, { "name": "STE24", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75844", "id": "O75844" }, { "name": "ZMPSTE24", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848", "id": "NP_005848" } ], "protein_names": [ { "name": "CAAX prenyl protease 1 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75844" }, { "name": "3.4.24.84", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75844" }, { "name": "CAAX prenyl protease 1 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848", "id": "NP_005848" }, { "name": "FACE-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75844" }, { "name": "Farnesylated proteins-converting enzyme 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75844" }, { "name": "Prenyl protein-specific endoprotease 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75844" }, { "name": "Zinc metalloproteinase Ste24 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75844" }, { "name": "prenyl protein-specific endoprotease 1; zinc metallopeptidase STE24 homolog; zinc metalloproteinase Ste24 homolog; farnesylated proteins-converting enzyme 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848", "id": "NP_005848" } ], "function": [ { "annotation": "A premature termination codon mutation in the gene ZMPSTE24 leads to loss of expression of Lamin A as well as abnormal patterns of nuclear sizes and shapes.", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" }, { "database": "PubMed", "id": "15317753", "url": "https://glygen.org/publication/PubMed/15317753" } ] }, { "annotation": "Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" }, { "database": "PubMed", "id": "37270786", "url": "https://glygen.org/publication/PubMed/37270786" } ] }, { "annotation": "Loss causes autosomal recessive restrictive dermopathy", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" }, { "database": "PubMed", "id": "15843403", "url": "https://glygen.org/publication/PubMed/15843403" } ] }, { "annotation": "Prelamin A and ZMPSTE24 in premature and physiological aging. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" }, { "database": "PubMed", "id": "37885131", "url": "https://glygen.org/publication/PubMed/37885131" } ] }, { "annotation": "Proteolytically removes the C-terminal three residues of farnesylated proteins.", "evidence": [ { "database": "UniProtKB", "id": "A0A6Q8PHG9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHG9#function" }, { "database": "UniProtKB", "id": "RU366005", "url": "https://www.uniprot.org/uniprot/RU366005#function" } ] }, { "annotation": "RNA interference of FACE1 protease results in a halt of cell division and accumulation of prelamin A.", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" }, { "database": "PubMed", "id": "15671064", "url": "https://glygen.org/publication/PubMed/15671064" } ] }, { "annotation": "The Integral Membrane Protein ZMPSTE24 Protects Cells from SARS-CoV-2 Spike-Mediated Pseudovirus Infection and Syncytia Formation.", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" }, { "database": "PubMed", "id": "36197088", "url": "https://glygen.org/publication/PubMed/36197088" } ] }, { "annotation": "This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" } ] }, { "annotation": "Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33315887, PubMed:33293369). Proteolytically removes the C-terminal three residues of farnesylated proteins (PubMed:33315887, PubMed:33293369). Plays also an antiviral role independently of its protease activity by restricting enveloped RNA and DNA viruses, including influenza A, Zika, Ebola, Sindbis, vesicular stomatitis, cowpox, and vaccinia (PubMed:28246125, PubMed:28169297). Mechanistically, controls IFITM antiviral pathway to hinder viruses from breaching the endosomal barrier by modulating membrane fluidity (PubMed:35283811).", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844#function" }, { "database": "PubMed", "id": "35283811", "url": "https://glygen.org/publication/PubMed/35283811" }, { "database": "PubMed", "id": "28169297", "url": "https://glygen.org/publication/PubMed/28169297" }, { "database": "PubMed", "id": "33315887", "url": "https://glygen.org/publication/PubMed/33315887" }, { "database": "PubMed", "id": "33293369", "url": "https://glygen.org/publication/PubMed/33293369" }, { "database": "PubMed", "id": "28246125", "url": "https://glygen.org/publication/PubMed/28246125" } ] } ], "disease": [ { "disease_id": "DOID:0060762", "recommended_name": { "id": "DOID:0060762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060762", "name": "restrictive dermopathy", "description": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life." }, "synonyms": [ { "id": "DOID:0060762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060762", "name": "Lethal tight skin contracture syndrome", "description": "" }, { "id": "DOID:0060762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060762", "name": "hyperkeratosis-contracture syndrome", "description": "" }, { "id": "DOID:0060762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060762", "name": "tight skin contracture syndrome", "description": "" }, { "id": "DOID:0060762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060762", "name": "Infantile restrictive dermopathy", "description": "" }, { "id": "DOID:0060762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060762", "name": "lethal restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy 1", "description": "A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "fetal hypokinesia sequence due to restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "foetal hypokinesia sequence due to restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "hyperkeratosis-contracture syndrome", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "lethal restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy 1, lethal", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "tight skin contracture syndrome", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "tight skin contracture syndrome, lethal", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy, lethal", "description": "" }, { "id": "MIM:275210", "resource": "MIM", "url": "https://www.omim.org/entry/275210", "name": "Restrictive dermopathy 1", "description": "Restrictive dermopathy 1" } ], "evidence": [ { "id": "275210", "database": "MIM", "url": "https://www.omim.org/entry/275210" } ] }, { "disease_id": "DOID:0070369", "recommended_name": { "id": "DOID:0070369", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070369", "name": "restrictive dermopathy 1", "description": "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34." }, "synonyms": [ { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy 1", "description": "A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "fetal hypokinesia sequence due to restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "foetal hypokinesia sequence due to restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "hyperkeratosis-contracture syndrome", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "lethal restrictive dermopathy", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy 1, lethal", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "tight skin contracture syndrome", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "tight skin contracture syndrome, lethal", "description": "" }, { "id": "MONDO:0800042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800042", "name": "restrictive dermopathy, lethal", "description": "" }, { "id": "MIM:275210", "resource": "MIM", "url": "https://www.omim.org/entry/275210", "name": "Restrictive dermopathy 1", "description": "Restrictive dermopathy 1" } ], "evidence": [ { "id": "275210", "database": "MIM", "url": "https://www.omim.org/entry/275210" } ] }, { "disease_id": "DOID:0081129", "recommended_name": { "id": "DOID:0081129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081129", "name": "mandibuloacral dysplasia type B lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities." }, "synonyms": [ { "id": "MONDO:0012074", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012074", "name": "mandibuloacral dysplasia with type B lipodystrophy", "description": "" }, { "id": "MONDO:0012074", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012074", "name": "mandibuloacral dysplasia with type B lipodystrophy", "description": "" }, { "id": "MONDO:0012074", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012074", "name": "MADB", "description": "" }, { "id": "MONDO:0012074", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012074", "name": "MANDIBULOACRAL dysplasia with type B lipodystrophy", "description": "" }, { "id": "MONDO:0012074", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012074", "name": "lipodystrophy, type B, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:608612", "resource": "MIM", "url": "https://www.omim.org/entry/608612", "name": "Mandibuloacral dysplasia with type B lipodystrophy", "description": "Mandibuloacral dysplasia with type B lipodystrophy" } ], "evidence": [ { "id": "608612", "database": "MIM", "url": "https://www.omim.org/entry/608612" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 335, "end_pos": 335, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of catalytic activity but not viral restriction.", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" }, { "database": "PubMed", "id": "28246125", "url": "https://glygen.org/publication/PubMed/28246125" } ] }, { "start_pos": 336, "end_pos": 336, "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of catalytic activity but not viral restriction.", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" }, { "database": "PubMed", "id": "28246125", "url": "https://glygen.org/publication/PubMed/28246125" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75844", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75844" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "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 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75844", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75844" } ], "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", 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"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": "" 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75844", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75844" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75844" } ], "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": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75844", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75844" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75844", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75844" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "common_name": "Human" } ], "gene": [ { "name": "ZMPSTE24", "url": "https://www.uniprot.org/uniprot/O75844", "locus": { "chromosome": "1", "start_pos": 40294180, "end_pos": 40258041, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000084073", "url": "https://www.ensembl.org/id/ENSG00000084073" } ] } } ], "crossref": [ { "id": "ENSG00000084073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084073", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.4.24.84", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.24.84&UniProtAcc=O75844", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd07343", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07343", 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"https://www.ebi.ac.uk/interpro/entry/IPR027057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032456", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032456", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10269", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10269", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "275210", "url": "http://www.omim.org/entry/275210", "database": "MIM", "categories": [ "Other" ] }, { "id": "606480", "url": "http://www.omim.org/entry/606480", "database": "MIM", "categories": [ "Other" ] }, { "id": "608612", "url": "http://www.omim.org/entry/608612", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75844", "url": "https://www.nextprot.org/entry/NX_O75844", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75844", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75844", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LPFKIYK", "url": "https://omabrowser.org/oma/group/LPFKIYK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3080668at2759", "url": "http://www.orthodb.org/?query=3080668at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10120", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10120", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10120:SF24", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10120:SF24", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2YPT", "url": "https://www.rcsb.org/structure/2YPT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AW6", "url": "https://www.rcsb.org/structure/4AW6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5SYT", "url": "https://www.rcsb.org/structure/5SYT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6BH8", "url": "https://www.rcsb.org/structure/6BH8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01435", "url": "http://pfam.xfam.org/family/PF01435", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16491", "url": "http://pfam.xfam.org/family/PF16491", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75844", "url": "https://pharos.nih.gov/targets/O75844", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75844", "url": "http://purl.obolibrary.org/obo/PR_O75844", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF67", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF67", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF67-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF67-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH40", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH40", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH40-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH40-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHG9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHG9-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHG9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75844-1", "url": "https://www.uniprot.org/uniprot/O75844-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH", "length": 475, "header": "sp|O75844-1|FACE1_HUMAN Isoform 1 of CAAX prenyl protease 1 homolog OS=Homo sapiens OX=9606 GN=ZMPSTE24 PE=1 SV=2 CANONICAL=O75844-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF67-1", "url": "", "sequence": { "sequence": "MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTFQRIVEQLNNTT", "length": 102, "header": "tr|A0A6Q8PF67-1|FACE1_HUMAN Computationally mapped isoform of CAAX prenyl protease 1 homolog OS=Homo sapiens OX=9606 GN=ZMPSTE24 PE=1 SV=1 CANONICAL=O75844-1" }, "locus": { "chromosome": "1", "start_pos": 40262869, "end_pos": 40258272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674703.1", "url": "https://www.ensembl.org/id/ENST00000674703.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501674.1", "url": "https://www.ensembl.org/id/ENSP00000501674.1" } ] } }, { "isoform_ac": "A0A6Q8PH40-1", "url": "", "sequence": { "sequence": "MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTGLSLLPCWSAVSQSRLTGALTSQAQAILSPQSPK", "length": 124, "header": "tr|A0A6Q8PH40-1|FACE1_HUMAN Computationally mapped isoform of CAAX prenyl protease 1 homolog OS=Homo sapiens OX=9606 GN=ZMPSTE24 PE=1 SV=1 CANONICAL=O75844-1" }, "locus": { "chromosome": "1", "start_pos": 40267492, "end_pos": 40258272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675754.1", "url": "https://www.ensembl.org/id/ENST00000675754.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502555.1", "url": "https://www.ensembl.org/id/ENSP00000502555.1" } ] } }, { "isoform_ac": "A0A6Q8PHG9-1", "url": "", "sequence": { "sequence": "MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEVCFKCQTTVEWSTLSSSATSCVVVRGSAPMIALHWSLSTSDGLPLRSSSSRLSSPLQTS", "length": 315, "header": "tr|A0A6Q8PHG9-1|FACE1_HUMAN Computationally mapped isoform of CAAX prenyl protease 1 homolog OS=Homo sapiens OX=9606 GN=ZMPSTE24 PE=1 SV=1 CANONICAL=O75844-1" }, "locus": { "chromosome": "1", "start_pos": 40280295, "end_pos": 40258272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675937.1", "url": "https://www.ensembl.org/id/ENST00000675937.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502683.1", "url": "https://www.ensembl.org/id/ENSP00000502683.1" } ] } }, { "isoform_ac": "O75844-1", "url": "", "sequence": { "sequence": "MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH", "length": 475, "header": "sp|O75844-1|FACE1_HUMAN Isoform 1 of CAAX prenyl protease 1 homolog OS=Homo sapiens OX=9606 GN=ZMPSTE24 PE=1 SV=2 CANONICAL=O75844-1" }, "locus": { "chromosome": "1", "start_pos": 40292666, "end_pos": 40258272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372759.4", "url": "https://www.ensembl.org/id/ENST00000372759.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000361845.3", "url": "https://www.ensembl.org/id/ENSP00000361845.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75844", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75844" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [ { "start_pos": 250, "end_pos": 250, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75844", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75844" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr250" }, { "start_pos": 253, "end_pos": 253, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75844", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75844" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Tyr253" }, { "start_pos": 310, "end_pos": 310, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75844", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75844" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O75844", "url": "http://phospho.elm.eu.org/byAccession/O75844.html" } ], "site_lbl": "Ser310" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a human cDNA encoding a novel protein structurally related to the yeast membrane-associated metalloprotease, Ste24p.", "journal": "Biochim. Biophys. Acta", "date": "1999", "authors": "Kumagai H, Kawamura Y, Yanagisawa K, Komano H", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "10076063", "url": "https://glygen.org/publication/PubMed/10076063" } ] }, { "title": "Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.", "journal": "Genomics", "date": "1999", "authors": "Freije J M, Blay P, Pend\u00e1s A M, Cadi\u00f1anos J, Crespo P, L\u00f3pez-Ot\u00edn C", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "10373325", "url": "https://glygen.org/publication/PubMed/10373325" } ] }, { "title": "Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.", "journal": "Human molecular genetics", "date": "2003", "authors": "Agarwal AK, Fryns JP, Auchus RJ, Garg A", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "12913070", "url": "https://glygen.org/publication/PubMed/12913070" } ] }, { "title": "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.", "journal": "Hum. Mol. Genet.", "date": "2004", "authors": "Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" }, { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" } ], "reference": [ { "type": "PubMed", "id": "15317753", "url": "https://glygen.org/publication/PubMed/15317753" } ] }, { "title": "RNAi of FACE1 protease results in growth inhibition of human cells expressing lamin A: implications for Hutchinson-Gilford progeria syndrome.", "journal": "Journal of cell science", "date": "2005", "authors": "Gruber J, Lampe T, Osborn M, Weber K", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" } ], "reference": [ { "type": "PubMed", "id": "15671064", "url": "https://glygen.org/publication/PubMed/15671064" } ] }, { "title": "Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.", "journal": "Human molecular genetics", "date": "2005", "authors": "Navarro CL, Cadinanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, Lopez-Otin C, Badens C, Levy N", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" } ], "reference": [ { "type": "PubMed", "id": "15843403", "url": "https://glygen.org/publication/PubMed/15843403" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.", "journal": "Journal of investigative medicine : the official publication of the American Federation for Clinical Research", "date": "2006", "authors": "Agarwal AK, Zhou XJ, Hall RK, Nicholls K, Bankier A, Van Esch H, Fryns JP, Garg A", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "17152860", "url": "https://glygen.org/publication/PubMed/17152860" } ] }, { "title": "Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.", "journal": "Clinical genetics", "date": "2008", "authors": "Miyoshi Y, Akagi M, Agarwal AK, Namba N, Kato-Nishimura K, Mohri I, Yamagata M, Nakajima S, Mushiake S, Shima M, Auchus RJ, Taniike M, Garg A, Ozono K", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "18435794", "url": "https://glygen.org/publication/PubMed/18435794" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O75844", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75844" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O75844", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75844" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.", "journal": "American journal of medical genetics. Part A", "date": "2010", "authors": "Ahmad Z, Zackai E, Medne L, Garg A", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "20814950", "url": "https://glygen.org/publication/PubMed/20814950" } ] }, { "title": "The structural basis of ZMPSTE24-dependent laminopathies.", "journal": "Science", "date": "2013", "authors": "Quigley A, Dong YY, Pike AC, Dong L, Shrestha L, Berridge G, Stansfeld PJ, Sansom MS, Edwards AM, Bountra C, von Delft F, Bullock AN, Burgess-Brown NA, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "23539603", "url": "https://glygen.org/publication/PubMed/23539603" } ] }, { "title": "Comparative influenza protein interactomes identify the role of plakophilin 2 in virus restriction.", "journal": "Nature communications", "date": "2017-02-07", "authors": "Wang Lingyan, Fu Bishi, Li Wenjun, Patil Girish, Liu Lin, Dorf Martin E, Li Shitao", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "28169297", "url": "https://glygen.org/publication/PubMed/28169297" } ] }, { "title": "ZMPSTE24 defends against influenza and other pathogenic viruses.", "journal": "The Journal of experimental medicine", "date": "2017", "authors": "Fu B, Wang L, Li S, Dorf ME", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "28246125", "url": "https://glygen.org/publication/PubMed/28246125" } ] }, { "title": "Site specificity determinants for prelamin A cleavage by the zinc metalloprotease ZMPSTE24.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Babatz TD, Spear ED, Xu W, Sun OL, Nie L, Carpenter EP, Michaelis S", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "33293369", "url": "https://glygen.org/publication/PubMed/33293369" } ] }, { "title": "Defining substrate requirements for cleavage of farnesylated prelamin A by the integral membrane zinc metalloprotease ZMPSTE24.", "journal": "PloS one", "date": "2020", "authors": "Wood Kaitlin M, Spear Eric D, Mossberg Otto W, Odinammadu Kamsi O, Xu Wenxin, Michaelis Susan", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "33315887", "url": "https://glygen.org/publication/PubMed/33315887" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75844", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75844" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Inhibition of Arenavirus Entry and Replication by the Cell-Intrinsic Restriction Factor ZMPSTE24 Is Enhanced by IFITM Antiviral Activity.", "journal": "Frontiers in microbiology", "date": "2022", "authors": "Stott-Marshall Robert J, Foster Toshana L", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "35283811", "url": "https://glygen.org/publication/PubMed/35283811" } ] }, { "title": "The Integral Membrane Protein ZMPSTE24 Protects Cells from SARS-CoV-2 Spike-Mediated Pseudovirus Infection and Syncytia Formation.", "journal": "mBio", "date": "2022-10-26", "authors": "Shilagardi Khurts, Spear Eric D, Abraham Rachy, Griffin Diane E, Michaelis Susan", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" } ], "reference": [ { "type": "PubMed", "id": "36197088", "url": "https://glygen.org/publication/PubMed/36197088" } ] }, { "title": "Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.", "journal": "Clinical genetics", "date": "2023-10", "authors": "Kaufmann Lukas, Pilic Johannes, Auinger Lisa, Mayer Anna-Lena, Blatterer Jasmin, Semmler-Bruckner Johann, Abbas Safdar, Rehman Khurram, Ayaz Muhammad, Graier Wolfgang F, Malli Roland, Petek Erwin, Wagner Klaus, Al Kaissi Ali, Khan Muzammil Ahmad, Windpassinger Christian", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" } ], "reference": [ { "type": "PubMed", "id": "37270786", "url": "https://glygen.org/publication/PubMed/37270786" } ] }, { "title": "Prelamin A and ZMPSTE24 in premature and physiological aging.", "journal": "Nucleus (Austin, Tex.)", "date": "2023-12", "authors": "Worman Howard J, Michaelis Susan", "evidence": [ { "database": "RefSeq", "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848" } ], "reference": [ { "type": "PubMed", "id": "37885131", "url": "https://glygen.org/publication/PubMed/37885131" } ] }, { "title": "Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing.", "journal": "J. Cell Biol.", "date": "1998", "authors": "Tam A, Nouvet F J, Fujimura-Kamada K, Slunt H, Sisodia S S, Michaelis S", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "reference": [ { "type": "PubMed", "id": "9700155", "url": "https://glygen.org/publication/PubMed/9700155" } ] } ], "pathway": [ { "id": "hsa:10269", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10269", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A5K6-1", "protein_name": "CAAX prenyl protease", "gene_name": "Zmpste24", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGMWASVDAMWDFPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELEQIMDSDTFEKSRLYQLDKSTFSFWSGLYSEVEGTFILLFGGIPYLWRLSGRFCSSAGFGPEYEIIQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNHQTLEFFMKDAIKKFIVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKQEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVPNKDNQEEPGLEPRNEGEGDSEEVKSKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRRELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSTWHYSHPPLLERLQALKNAKRD", "length": 475 }, "evidence": [ { "id": "45929852", "url": "http://www.informatics.jax.org/homology/45929852", "database": "MGI" }, { "id": "O75844", "url": "https://omabrowser.org/oma/group/O75844/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P47154-1", "protein_name": "CAAX prenyl protease 1", "gene_name": "STE24", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MFDLKTILDHPNIPWKLIISGFSIAQFSFESYLTYRQYQKLSETKLPPVLEDEIDDETFHKSRNYSRAKAKFSIFGDVYNLAQKLVFIKYDLFPKIWHMAVSLLNAVLPVRFHMVSTVAQSLCFLGLLSSLSTLVDLPLSYYSHFVLEEKFGFNKLTVQLWITDMIKSLTLAYAIGGPILYLFLKIFDKFPTDFLWYIMVFLFVVQILAMTIIPVFIMPMFNKFTPLEDGELKKSIESLADRVGFPLDKIFVIDGSKRSSHSNAYFTGLPFTSKRIVLFDTLVNSNSTDEITAVLAHEIGHWQKNHIVNMVIFSQLHTFLIFSLFTSIYRNTSFYNTFGFFLEKSTGSFVDPVITKEFPIIIGFMLFNDLLTPLECAMQFVMSLISRTHEYQADAYAKKLGYKQNLCRALIDLQIKNLSTMNVDPLYSSYHYSHPTLAERLTALDYVSEKKKN", "length": 453 }, "evidence": [ { "id": "O75844", "url": "https://omabrowser.org/oma/group/O75844/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q7K172-1", "protein_name": "CAAX prenyl protease", "gene_name": "ste24a", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSSLDADTVLLSILFLVVIENALEIYISLRQVKVYQTALKVPAELKSHMGEDTFHKARKYGLDQEKFGIFKAVVMDVALLCMELYIGLIAVLWQLSVQVVDKLQWDSKNEIIVSCVFVLISNVLSTFKGLPFKIYKIFVLEETHGFNKQTARFFAWDQLKGFLVTQVLMIPITAAIIFIVQRGGDNFFIWLWIFTGVISLVLLTLYPIFIAPLFDKYTPLEKGALRQSIEDLAASLKFPLTKLFVVEGSKRSSHSNAYFYGLWNSKRIVLFDTLLLNKGKPDDSELSEEEKGKGCTDEEVLAVLGHELGHWKLGHVTKNIIIMQVHLFLMFLVFGNVFKYPPFYVAMGFQPGTRPILVGLLIVFTYVLAPYNALMNFAMTILSRRFEYQADEFAFKLGFAEQLGQALIKLNVDNLGFPVYDWLYSTWNHSHPTLLQRLNRLKELKEEKKLN", "length": 451 }, "evidence": [ { "id": "O75844", "url": "https://omabrowser.org/oma/group/O75844/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q80W54-1", "protein_name": "CAAX prenyl protease 1 homolog", "gene_name": "Zmpste24", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGMWASVDAMWDFPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTRVPAELEQIMDSDTFEKSRLYQLDKSTFSFWSGLYSEVEGTFILLFGGIPYLWRLSGQFCSSAGFGPEYEIIQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNHQTLEFFMKDAIKKFIVTQCILLPVSALLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKQEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVPNKDNQEESGMEARNEGEGDSEEVKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRRELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSTWHYSHPPLLERLQALKNAKQD", "length": 475 }, "evidence": [ { "id": "45929852", "url": "http://www.informatics.jax.org/homology/45929852", "database": "MGI" }, { "id": "O75844", "url": "https://omabrowser.org/oma/group/O75844/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 46, "go_terms": [ { "name": "CAAX-box protein processing", "id": "GO:0071586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071586", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "negative regulation of miRNA processing", "id": "GO:1903799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903799", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "kidney morphogenesis", "id": "GO:0060993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060993", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043516", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "cardiac ventricle development", "id": "GO:0003231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003231", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "positive regulation of gene expression via CpG island demethylation", "id": "GO:0044029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044029", "evidence": [ { 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"https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "cellular lipid metabolic process", "id": "GO:0044255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044255", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": "https://www.uniprot.org/uniprot/O75844" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "O75844", "url": 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