{ "uniprot_canonical_ac": "P09936-1", "uniprot_ac": "P09936", "uniprot_id": "UCHL1_HUMAN", "mass": { "chemical_mass": 24824.0, "monoisotopic_mass": 24824.0 }, "refseq": { "ac": "NP_004172", "name": "ubiquitin carboxyl-terminal hydrolase isozyme L1", "summary": "The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" }, "gene_names": [ { "name": "UCHL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09936", "id": "P09936" }, { "name": "HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5; PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172", "id": "NP_004172" }, { "name": "UCHL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172", "id": "NP_004172" } ], "protein_names": [ { "name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09936" }, { "name": "3.4.19.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09936" }, { "name": "Neuron cytoplasmic protein 9.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09936" }, { "name": "PGP 9.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09936" }, { "name": "PGP9.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09936" }, { "name": "UCH-L1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09936" }, { "name": "Ubiquitin thioesterase L1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09936" }, { "name": "neuron cytoplasmic protein 9.5; epididymis secretory protein Li 53; ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase); epididymis luminal protein 117; ubiquitin thioesterase L1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172", "id": "NP_004172" }, { "name": "ubiquitin carboxyl-terminal hydrolase isozyme L1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172", "id": "NP_004172" } ], "function": [ { "annotation": "Deubiquitinase that plays a role in the regulation of several processes such as maintenance of synaptic function, cardiac function, inflammatory response or osteoclastogenesis (PubMed:22212137, PubMed:23359680). Abrogates the ubiquitination of multiple proteins including WWTR1/TAZ, EGFR, HIF1A and beta-site amyloid precursor protein cleaving enzyme 1/BACE1 (PubMed:22212137, PubMed:25615526). In addition, recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin to maintain a stable pool of monoubiquitin that is a key requirement for the ubiquitin-proteasome and the autophagy-lysosome pathways (PubMed:9774100, PubMed:8639624, PubMed:12408865). Regulates amyloid precursor protein/APP processing by promoting BACE1 degradation resulting in decreased amyloid beta production (PubMed:22212137). Plays a role in the immune response by regulating the ability of MHC I molecules to reach cross-presentation compartments competent for generating Ag-MHC I complexes (By similarity). Mediates the 'Lys-48'-linked deubiquitination of the transcriptional coactivator WWTR1/TAZ leading to its stabilization and inhibition of osteoclastogenesis (By similarity). Deubiquitinates and stabilizes epidermal growth factor receptor EGFR to prevent its degradation and to activate its downstream mediators (By similarity). Modulates oxidative activity in skeletal muscle by regulating key mitochondrial oxidative proteins (By similarity). Enhances the activity of hypoxia-inducible factor 1-alpha/HIF1A by abrogateing its VHL E3 ligase-mediated ubiquitination and consequently inhibiting its degradation (PubMed:25615526).", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936#function" }, { "database": "PubMed", "id": "9774100", "url": "https://glygen.org/publication/PubMed/9774100" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" }, { "database": "PubMed", "id": "23359680", "url": "https://glygen.org/publication/PubMed/23359680" }, { "database": "UniProtKB", "id": "Q9R0P9", "url": "https://www.uniprot.org/uniprot/Q9R0P9#function" }, { "database": "PubMed", "id": "12408865", "url": "https://glygen.org/publication/PubMed/12408865" }, { "database": "PubMed", "id": "25615526", "url": "https://glygen.org/publication/PubMed/25615526" }, { "database": "PubMed", "id": "22212137", "url": "https://glygen.org/publication/PubMed/22212137" } ] }, { "annotation": "Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" }, { "database": "PubMed", "id": "37517328", "url": "https://glygen.org/publication/PubMed/37517328" } ] }, { "annotation": "Targeted epigenetic silencing of UCHL1 expression suppresses collagen-1 production in human lung epithelial cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" }, { "database": "PubMed", "id": "38016026", "url": "https://glygen.org/publication/PubMed/38016026" } ] }, { "annotation": "The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" } ] }, { "annotation": "UCHL1 aggravates skin fibrosis through an IGF-1-induced Akt/mTOR/HIF-1alpha pathway in keloid.", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" }, { "database": "PubMed", "id": "37256780", "url": "https://glygen.org/publication/PubMed/37256780" } ] }, { "annotation": "UCHL1 facilitates protein aggregates clearance to enhance neural stem cell activation in spinal cord injury. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" }, { "database": "PubMed", "id": "37507386", "url": "https://glygen.org/publication/PubMed/37507386" } ] }, { "annotation": "UCHL1-PKM2 axis dysregulation is associated with promoted proliferation and invasiveness of urothelial bladder cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" }, { "database": "PubMed", "id": "37815895", "url": "https://glygen.org/publication/PubMed/37815895" } ] } ], "disease": [ { "disease_id": "DOID:0070455", "recommended_name": { "id": "DOID:0070455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070455", "name": "hereditary spastic paraplegia 79A", "description": "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13." }, "synonyms": [ { "id": "DOID:0070455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070455", "name": "SPG79A", "description": "" }, { "id": "DOID:0070455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070455", "name": "autosomal dominant spastic paraplegia 79A", "description": "" }, { "id": "MONDO:0859363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859363", "name": "spastic paraplegia 79A, autosomal dominant, with ataxia", "description": "" }, { "id": "MIM:620221", "resource": "MIM", "url": "https://www.omim.org/entry/620221", "name": "Spastic paraplegia 79A, autosomal dominant, with ataxia", "description": "Spastic paraplegia 79A, autosomal dominant, with ataxia" } ], "evidence": [ { "id": "620221", "database": "MIM", "url": "https://www.omim.org/entry/620221" } ] }, { "disease_id": "DOID:0112344", "recommended_name": { "id": "DOID:0112344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112344", "name": "hereditary spastic paraplegia 79B", "description": "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13." }, "synonyms": [ { "id": "DOID:0112344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112344", "name": "SPG79B", "description": "" }, { "id": "DOID:0112344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112344", "name": "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome", "description": "" }, { "id": "DOID:0112344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112344", "name": "spastic paraplegia 79 autosomal recessive", "description": "" }, { "id": "DOID:0112344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112344", "name": "autosomal recessive spastic paraplegia 79B", "description": "" }, { "id": "MONDO:0014209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014209", "name": "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome", "description": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." }, { "id": "MONDO:0014209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014209", "name": "NDGOA", "description": "" }, { "id": "MONDO:0014209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014209", "name": "SPG79", "description": "" }, { "id": "MONDO:0014209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014209", "name": "neurodegeneration with optic atrophy, childhood-onset", "description": "" }, { "id": "MONDO:0014209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014209", "name": "spastic paraplegia 79, autosomal recessive", "description": "" }, { "id": "MIM:615491", "resource": "MIM", "url": "https://www.omim.org/entry/615491", "name": "Spastic paraplegia 79B, autosomal recessive", "description": "Spastic paraplegia 79B, autosomal recessive" } ], "evidence": [ { "id": "615491", "database": "MIM", "url": "https://www.omim.org/entry/615491" } ] }, { "disease_id": "MONDO:0013340", "recommended_name": { "id": "MONDO:0013340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013340", "name": "Parkinson disease 5, autosomal dominant, susceptibility to", "description": "An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." }, "synonyms": [ { "id": "MONDO:0013340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013340", "name": "Parkinson disease 5, autosomal dominant, susceptibility to", "description": "" }, { "id": "MONDO:0013340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013340", "name": "Parkinson disease 5, susceptibility to", "description": "" }, { "id": "MONDO:0013340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013340", "name": "UCHL1 young-onset Parkinson disease", "description": "" }, { "id": "MONDO:0013340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013340", "name": "young-onset Parkinson disease caused by mutation in UCHL1", "description": "" }, { "id": "MONDO:0013340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013340", "name": "PARK5", "description": "" }, { "id": "MONDO:0013340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013340", "name": "susceptibility to autosomal dominant Parkinson disease 5", "description": "" }, { "id": "MIM:613643", "resource": "MIM", "url": "https://www.omim.org/entry/613643", "name": "Parkinson disease 5", "description": "Parkinson disease 5" } ], "evidence": [ { "id": "613643", "database": "MIM", "url": "https://www.omim.org/entry/613643" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 161, "end_pos": 161, "sequence_org": "H", "sequence_mut": "D", "comment": "10000-fold decrease in enzymatic activity; no change in affinity for ubiquitin ethyl ester.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "H", "sequence_mut": "K", "comment": "Abolishes enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "H", "sequence_mut": "N", "comment": "Abolishes enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "H", "sequence_mut": "Q", "comment": "Abolishes enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "H", "sequence_mut": "Y", "comment": "Abolishes enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 176, "end_pos": 176, "sequence_org": "D", "sequence_mut": "N", "comment": "6-fold decrease in affinity for ubiquitin ethyl ester; 97.5% decrease in enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 204, "end_pos": 204, "sequence_org": "F", "sequence_mut": "A", "comment": "Almost complete loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "20439756", "url": "https://glygen.org/publication/PubMed/20439756" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "Q", "sequence_mut": "R", "comment": "No effect on enzymatic parameters.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 90, "end_pos": 90, "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" }, { "database": "PubMed", "id": "23359680", "url": "https://glygen.org/publication/PubMed/23359680" }, { "database": "PubMed", "id": "20439756", "url": "https://glygen.org/publication/PubMed/20439756" }, { "database": "PubMed", "id": "12705903", "url": "https://glygen.org/publication/PubMed/12705903" }, { "database": "PubMed", "id": "25615526", "url": "https://glygen.org/publication/PubMed/25615526" } ] }, { "start_pos": 97, "end_pos": 97, "sequence_org": "H", "sequence_mut": "N", "comment": "2-fold increase in affinity for ubiquitin ethyl ester, slight reduction in enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "start_pos": 97, "end_pos": 97, "sequence_org": "H", "sequence_mut": "Q", "comment": "2-fold increase in affinity for ubiquitin ethyl ester, slight reduction in enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.46", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "67.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "61.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154277" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P09936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09936" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "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 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"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, 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"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, 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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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P09936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09936" } ], "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", 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"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 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"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": "P09936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09936" } ], "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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"MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSETEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMPFPVNHGASSEDTLLKVIFGMHLFLMTLPRSAENSPSVSKEKSASLPWLSARQPNALWEGLC", "length": 241, "header": "tr|D6R956-1|D6R956_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase OS=Homo sapiens OX=9606 GN=UCHL1 PE=1 SV=1 CANONICAL=P09936-1" }, "locus": { "chromosome": "4", "start_pos": 41268095, "end_pos": 41256977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512788.1", "url": "https://www.ensembl.org/id/ENST00000512788.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000423623.1", "url": "https://www.ensembl.org/id/ENSP00000423623.1" } ] } }, { "isoform_ac": "D6R974-1", "url": "", "sequence": { "sequence": "MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSETEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRMTR", "length": 156, "header": "tr|D6R974-1|D6R974_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase OS=Homo sapiens OX=9606 GN=UCHL1 PE=1 SV=1 CANONICAL=P09936-1" }, "locus": { "chromosome": "4", "start_pos": 41263237, "end_pos": 41256977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505232.5", "url": "https://www.ensembl.org/id/ENST00000505232.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423348.1", "url": "https://www.ensembl.org/id/ENSP00000423348.1" } ] } }, { "isoform_ac": "D6RE83-1", "url": "", "sequence": { "sequence": "MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSETEKMSPEDRAKCFEKNEVDDKVNFHFILFNNVDGHLYELDGRMPFPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA", "length": 207, "header": "tr|D6RE83-1|D6RE83_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase OS=Homo sapiens OX=9606 GN=UCHL1 PE=1 SV=1 CANONICAL=P09936-1" }, "locus": { "chromosome": "4", "start_pos": 41268070, "end_pos": 41256977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508768.5", "url": "https://www.ensembl.org/id/ENST00000508768.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426895.1", "url": "https://www.ensembl.org/id/ENSP00000426895.1" } ] } }, { "isoform_ac": "D6RF53-1", "url": "", "sequence": { "sequence": "MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQ", "length": 58, "header": "tr|D6RF53-1|UCHL1_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase isozyme L1 OS=Homo sapiens OX=9606 GN=UCHL1 PE=1 SV=1 CANONICAL=P09936-1" }, "locus": { "chromosome": "4", "start_pos": 41257737, "end_pos": 41256977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514924.5", "url": "https://www.ensembl.org/id/ENST00000514924.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426634.1", "url": "https://www.ensembl.org/id/ENSP00000426634.1" } ] } }, { "isoform_ac": "D6RJD9-1", "url": "", "sequence": { "sequence": "MQLKPMEINPEVSARCCPGWGSPASGASWTCWGWKRSLWARCQRLPARCCCCFPSRPSMRTSGKSRLKS", "length": 69, "header": "tr|D6RJD9-1|UCHL1_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase isozyme L1 OS=Homo sapiens OX=9606 GN=UCHL1 PE=1 SV=1 CANONICAL=P09936-1" }, "locus": { "chromosome": "4", "start_pos": 41260680, "end_pos": 41256977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512419.5", "url": "https://www.ensembl.org/id/ENST00000512419.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425714.1", "url": "https://www.ensembl.org/id/ENSP00000425714.1" } ] } }, { "isoform_ac": "P09936-1", "url": "", "sequence": { "sequence": "MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSETEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMPFPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA", "length": 223, "header": "sp|P09936-1|UCHL1_HUMAN Isoform 1 of Ubiquitin carboxyl-terminal hydrolase isozyme L1 OS=Homo sapiens OX=9606 GN=UCHL1 PE=1 SV=2 CANONICAL=P09936-1" }, "locus": { "chromosome": "4", "start_pos": 41268070, "end_pos": 41256977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000284440.9", "url": "https://www.ensembl.org/id/ENST00000284440.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000284440.4", "url": "https://www.ensembl.org/id/ENSP00000284440.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P09936", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09936" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 125, "end_pos": 125, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "site_lbl": "Ser125" }, { "start_pos": 189, "end_pos": 189, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09936" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser189" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.", "journal": "Neuroreport", "date": "1999", "authors": "Lincoln S, Vaughan J, Wood N, Baker M, Adamson J, Gwinn-Hardy K, Lynch T, Hardy J, Farrer M", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "10203348", "url": "https://glygen.org/publication/PubMed/10203348" } ] }, { "title": "The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.", "journal": "Neuroscience letters", "date": "1999", "authors": "Harhangi BS, Farrer MJ, Lincoln S, Bonifati V, Meco G, De Michele G, Brice A, Durr A, Martinez M, Gasser T, Bereznai B, Vaughan JR, Wood NW, Hardy J, Oostra BA, Breteler MM", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "10454131", "url": "https://glygen.org/publication/PubMed/10454131" } ] }, { "title": "The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.", "journal": "Neuroscience letters", "date": "2000", "authors": "Mellick GD, Silburn PA", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "11027850", "url": "https://glygen.org/publication/PubMed/11027850" } ] }, { "title": "Interaction and colocalization of PGP9.5 with JAB1 and p27(Kip1).", "journal": "Oncogene", "date": "2002", "authors": "Caballero Ot\u00e1via L, Resto Vicente, Patturajan Meera, Meerzaman Daoud, Guo Ming Zhou, Engles James, Yochem Robert, Ratovitski Edward, Sidransky David, Jen Jin", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "12082530", "url": "https://glygen.org/publication/PubMed/12082530" } ] }, { "title": "The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility.", "journal": "Cell", "date": "2002", "authors": "Liu Y, Fallon L, Lashuel HA, Liu Z, Lansbury PT Jr", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "12408865", "url": "https://glygen.org/publication/PubMed/12408865" } ] }, { "title": "Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Nishikawa K, Li H, Kawamura R, Osaka H, Wang YL, Hara Y, Hirokawa T, Manago Y, Amano T, Noda M, Aoki S, Wada K", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "12705903", "url": "https://glygen.org/publication/PubMed/12705903" } ] }, { "title": "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.", "journal": "Electrophoresis", "date": "1992", "authors": "Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "1286667", "url": "https://glygen.org/publication/PubMed/1286667" } ] }, { "title": "Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Choi J, Levey AI, Weintraub ST, Rees HD, Gearing M, Chin LS, Li L", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "14722078", "url": "https://glygen.org/publication/PubMed/14722078" } ] }, { "title": "UCHL1 is a Parkinson's disease susceptibility gene.", "journal": "Annals of neurology", "date": "2004", "authors": "Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, Kruger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JP, de Andrade M, Rocca WA", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "15048890", "url": "https://glygen.org/publication/PubMed/15048890" } ] }, { "title": "UCHL-1 is not a Parkinson's disease susceptibility gene.", "journal": "Annals of neurology", "date": "2006", "authors": "Healy DG, Abou-Sleiman PM, Casas JP, Ahmadi KR, Lynch T, Gandhi S, Muqit MM, Foltynie T, Barker R, Bhatia KP, Quinn NP, Lees AJ, Gibson JM, Holton JL, Revesz T, Goldstein DB, Wood NW", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "16450370", "url": "https://glygen.org/publication/PubMed/16450370" } ] }, { "title": "Mechanistic studies of ubiquitin C-terminal hydrolase L1.", "journal": "Biochemistry", "date": "2006", "authors": "Case April, Stein Ross L", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "16475834", "url": "https://glygen.org/publication/PubMed/16475834" } ] }, { "title": "Structural basis for conformational plasticity of the Parkinson's disease-associated ubiquitin hydrolase UCH-L1.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2006", "authors": "Das Chittaranjan, Hoang Quyen Q, Kreinbring Cheryl A, Luchansky Sarah J, Meray Robin K, Ray Soumya S, Lansbury Peter T, Ringe Dagmar, Petsko Gregory A", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "16537382", "url": "https://glygen.org/publication/PubMed/16537382" } ] }, { "title": "Proteasome recruitment and activation of the Uch37 deubiquitinating enzyme by Adrm1.", "journal": "Nature cell biology", "date": "2006", "authors": "Yao T, Song L, Xu W, DeMartino GN, Florens L, Swanson SK, Washburn MP, Conaway RC, Conaway JW, Cohen RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "16906146", "url": "https://glygen.org/publication/PubMed/16906146" } ] }, { "title": "hRpn13/ADRM1/GP110 is a novel proteasome subunit that binds the deubiquitinating enzyme, UCH37.", "journal": "The EMBO journal", "date": "2006", "authors": "Qiu XB, Ouyang SY, Li CJ, Miao S, Wang L, Goldberg AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "17139257", "url": "https://glygen.org/publication/PubMed/17139257" } ] }, { "title": "The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells.", "journal": "Human molecular genetics", "date": "2008", "authors": "Kyratzi E, Pavlaki M, Stefanis L", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "18411255", "url": "https://glygen.org/publication/PubMed/18411255" } ] }, { "title": "Neuronal protein gene product 9.5 (IEF SSP 6104) is expressed in cultured human MRC-5 fibroblasts of normal origin and is strongly down-regulated in their SV40 transformed counterparts.", "journal": "FEBS Lett.", "date": "1991", "authors": "Honor\u00e9 B, Rasmussen H H, Vandekerckhove J, Celis J E", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "1849484", "url": "https://glygen.org/publication/PubMed/1849484" } ] }, { "title": "Ubiquitin docking at the proteasome through a novel pleckstrin-homology domain interaction.", "journal": "Nature", "date": "2008", "authors": "Schreiner P, Chen X, Husnjak K, Randles L, Zhang N, Elsasser S, Finley D, Dikic I, Walters KJ, Groll M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "18497827", "url": "https://glygen.org/publication/PubMed/18497827" } ] }, { "title": "Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Misaghi S, Ottosen S, Izrael-Tomasevic A, Arnott D, Lamkanfi M, Lee J, Liu J, O'Rourke K, Dixit VM, Wilson AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "19188440", "url": "https://glygen.org/publication/PubMed/19188440" } ] }, { "title": "Membrane-associated farnesylated UCH-L1 promotes alpha-synuclein neurotoxicity and is a therapeutic target for Parkinson's disease.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2009", "authors": "Liu Zhihua, Meray Robin K, Grammatopoulos Tom N, Fredenburg Ross A, Cookson Mark R, Liu Yichin, Logan Todd, Lansbury Peter T", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "19261853", "url": "https://glygen.org/publication/PubMed/19261853" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Machida YJ, Machida Y, Vashisht AA, Wohlschlegel JA, Dutta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "19815555", "url": "https://glygen.org/publication/PubMed/19815555" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P09936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09936" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB.", "journal": "Nature", "date": "2010", "authors": "Scheuermann JC, de Ayala Alonso AG, Oktaba K, Ly-Hartig N, McGinty RK, Fraterman S, Wilm M, Muir TW, Muller J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "20436459", "url": "https://glygen.org/publication/PubMed/20436459" } ] }, { "title": "Ubiquitin vinyl methyl ester binding orients the misaligned active site of the ubiquitin hydrolase UCHL1 into productive conformation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Boudreaux DA, Maiti TK, Davies CW, Das C", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "20439756", "url": "https://glygen.org/publication/PubMed/20439756" } ] }, { "title": "The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Yu H, Mashtalir N, Daou S, Hammond-Martel I, Ross J, Sui G, Hart GW, Rauscher FJ 3rd, Drobetsky E, Milot E, Shi Y, Affar el B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "20805357", "url": "https://glygen.org/publication/PubMed/20805357" } ] }, { "title": "Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.", "journal": "Ophthalmic genetics", "date": "2011", "authors": "Rudolph T, Sjolander A, Palmer MS, Minthon L, Wallin A, Andreasen N, Tasa G, Juronen E, Blennow K, Zetterberg H, Zetterberg M", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "21268678", "url": "https://glygen.org/publication/PubMed/21268678" } ] }, { "title": "The structure of the human gene encoding protein gene product 9.5 (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase.", "journal": "Biochem. J.", "date": "1990", "authors": "Day I N, Hinks L J, Thompson R J", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "2163617", "url": "https://glygen.org/publication/PubMed/2163617" } ] }, { "title": "Control of BACE1 degradation and APP processing by ubiquitin carboxyl-terminal hydrolase L1.", "journal": "Journal of neurochemistry", "date": "2012-03", "authors": "Zhang Mingming, Deng Yu, Luo Yawen, Zhang Shuting, Zou Haiyan, Cai Fang, Wada Keiji, Song Weihong", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "22212137", "url": "https://glygen.org/publication/PubMed/22212137" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09936", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09936" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "23359680", "url": "https://glygen.org/publication/PubMed/23359680" } ] }, { "title": "The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase.", "journal": "Science (New York, N.Y.)", "date": "1989", "authors": "Wilkinson KD, Lee KM, Deshpande S, Duerksen-Hughes P, Boss JM, Pohl J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "2530630", "url": "https://glygen.org/publication/PubMed/2530630" } ] }, { "title": "UCHL1 provides diagnostic and antimetastatic strategies due to its deubiquitinating effect on HIF-1\u03b1.", "journal": "Nature communications", "date": "2015-01-23", "authors": "Goto Yoko, Zeng Lihua, Yeom Chan Joo, Zhu Yuxi, Morinibu Akiyo, Shinomiya Kazumi, Kobayashi Minoru, Hirota Kiichi, Itasaka Satoshi, Yoshimura Michio, Tanimoto Keiji, Torii Masae, Sowa Terumasa, Menju Toshi, Sonobe Makoto, Kakeya Hideaki, Toi Masakazu, Date Hiroshi, Hammond Ester M, Hiraoka Masahiro, Harada Hiroshi", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "25615526", "url": "https://glygen.org/publication/PubMed/25615526" } ] }, { "title": "Novel UCHL1 mutations reveal new insights into ubiquitin processing.", "journal": "Human molecular genetics", "date": "2017", "authors": "Rydning SL, Backe PH, Sousa MML, Iqbal Z, Oye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjoras M, Tallaksen CM, Selmer KK", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "28007905", "url": "https://glygen.org/publication/PubMed/28007905" } ] }, { "title": "Molecular cloning of cDNA coding for human PGP 9.5 protein. A novel cytoplasmic marker for neurones and neuroendocrine cells.", "journal": "FEBS Lett.", "date": "1987", "authors": "Day I N, Thompson R J", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "2947814", "url": "https://glygen.org/publication/PubMed/2947814" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09936", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09936" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09936", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09936" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09936", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09936" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2022-10", "authors": "Park Joohyun, Tucci Arianna, Cipriani Valentina, Demidov German, Rocca Clarissa, Senderek Jan, Butryn Michaela, Velic Ana, Lam Tanya, Galanaki Evangelia, Cali Elisa, Vestito Letizia, Maroofian Reza, Deininger Natalie, Rautenberg Maren, Admard Jakob, Hahn Gesa-Astrid, Bartels Claudius, van Os Nienke J H, Horvath Rita, Chinnery Patrick F, Tiet May Yung, Hewamadduma Channa, Hadjivassiliou Marios, Tofaris George K, , Wood Nicholas W, Hayer Stefanie N, Bender Friedemann, Menden Benita, Cordts Isabell, Klein Katrin, Nguyen Huu Phuc, Krauss Joachim K, Blahak Christian, Strom Tim M, Sturm Marc, van de Warrenburg Bart, Lerche Holger, Ma\u010dek Boris, Synofzik Matthis, Ossowski Stephan, Timmann Dagmar, Wolf Marc E, Smedley Damian, Riess Olaf, Sch\u00f6ls Ludger, Houlden Henry, Haack Tobias B, Hengel Holger", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "35986737", "url": "https://glygen.org/publication/PubMed/35986737" } ] }, { "title": "UCHL1 aggravates skin fibrosis through an IGF-1-induced Akt/mTOR/HIF-1\u03b1 pathway in keloid.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2023-07", "authors": "Guo Chipeng, Liang Lizhu, Zheng Jingbin, Xie Yang, Qiu Xiaonan, Tan Guozhen, Huang Jingang, Wang Liangchun", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" } ], "reference": [ { "type": "PubMed", "id": "37256780", "url": "https://glygen.org/publication/PubMed/37256780" } ] }, { "title": "UCHL1 facilitates protein aggregates clearance to enhance neural stem cell activation in spinal cord injury.", "journal": "Cell death & disease", "date": "2023-07-28", "authors": "Ding Lu, Chu Weiwei, Xia Yu, Shi Ming, Li Tian, Zhou Feng-Quan, Deng David Y B", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" } ], "reference": [ { "type": "PubMed", "id": "37507386", "url": "https://glygen.org/publication/PubMed/37507386" } ] }, { "title": "Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.", "journal": "Molecular genetics and metabolism", "date": "2023-11", "authors": "Cawley Niamh X, Giddens Spencer, Farhat Nicole M, Luke Rachel A, Scott Katelin E J, Mohamed Hibaaq O, Dang Do An, Berry-Kravis Elizabeth, Cologna Stephanie M, Liu Fang, Porter Forbes D", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" } ], "reference": [ { "type": "PubMed", "id": "37517328", "url": "https://glygen.org/publication/PubMed/37517328" } ] }, { "title": "UCHL1-PKM2 axis dysregulation is associated with promoted proliferation and invasiveness of urothelial bladder cancer cells.", "journal": "Aging", "date": "2023-10-09", "authors": "Zheng Yuhui, Shi Dongliang, Chen Linlin, Yang Yinghong, Yao Meihong", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" } ], "reference": [ { "type": "PubMed", "id": "37815895", "url": "https://glygen.org/publication/PubMed/37815895" } ] }, { "title": "Targeted epigenetic silencing of UCHL1 expression suppresses collagen-1 production in human lung epithelial cells.", "journal": "Epigenetics", "date": "2023-12", "authors": "Wu Dan-Dan, Lau Andy T Y, Xu Yan-Ming, Reinders-Luinge Marjan, Koncz Mihaly, Kiss Antal, Timens Wim, Rots Marianne G, Hylkema Machteld N", "evidence": [ { "database": "RefSeq", "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172" } ], "reference": [ { "type": "PubMed", "id": "38016026", "url": "https://glygen.org/publication/PubMed/38016026" } ] }, { "title": "Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues.", "journal": "Biochemistry", "date": "1996", "authors": "Larsen CN, Price JS, Wilkinson KD", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "reference": [ { "type": "PubMed", "id": "8639624", "url": "https://glygen.org/publication/PubMed/8639624" } ] }, { "title": "BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression.", "journal": "Oncogene", "date": "1998", "authors": "Jensen DE, Proctor M, Marquis ST, Gardner HP, Ha SI, Chodosh LA, Ishov AM, Tommerup N, Vissing H, Sekido Y, Minna J, Borodovsky A, Schultz DC, Wilkinson KD, Maul GG, Barlev N, Berger SL, Prendergast GC, Rauscher FJ 3rd", "evidence": [ { "database": 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Biophys. Res. Commun.", "date": "1998", "authors": "Wada H, Kito K, Caskey LS, Yeh ET, Kamitani T", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" }, { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ { "type": "PubMed", "id": "9790970", "url": "https://glygen.org/publication/PubMed/9790970" } ] } ], "pathway": [ { "id": "hsa:7345", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7345", "resource": "KEGG Pathway" }, { "id": "R-HSA-5689603", "name": "UCH proteinases", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603", "resource": "Reactome", "description": "UCH proteinases" } ], "orthologs": [ { "uniprot_canonical_ac": "Q00981-1", "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1", "gene_name": "Uchl1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQLKPMEINPEMLNKVLAKLGVAGQWRFADVLGLEEETLGSVPSPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLEFEDGSVLKQFLSETEKLSPEDRAKCFEKNEAIQAAHDSVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMPFPVNHGASSEDSLLQDAAKVCREFTEREQGEVRFSAVALCKAA", "length": 223 }, "evidence": [ { "id": "45918090", "url": "http://www.informatics.jax.org/homology/45918090", "database": "MGI" }, { "id": "P09936", "url": "https://omabrowser.org/oma/group/P09936/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6SEG5-1", "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1", "gene_name": "UCHL1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MQLKPMEINPEMLNKVLTRLGVAGHWRFADVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLEFEDGSVLKQFLSETEKLSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMPFPVNHGASSEDSLLQDAAKVCREFTEREQGEVRFSAVALCKAA", "length": 223 }, "evidence": [ { "id": "P09936", "url": "https://omabrowser.org/oma/group/P09936/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q9R0P9-1", "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1", "gene_name": "Uchl1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQLKPMEINPEMLNKVLAKLGVAGQWRFADVLGLEEETLGSVPSPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLEFEDGSVLKQFLSETEKLSPEDRAKCFEKNEAIQAAHDSVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMPFPVNHGASSEDSLLQDAAKVCREFTEREQGEVRFSAVALCKAA", "length": 223 }, "evidence": [ { "id": "45918090", "url": "http://www.informatics.jax.org/homology/45918090", "database": "MGI" }, { "id": "P09936", "url": "https://omabrowser.org/oma/group/P09936/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "male germ cell proliferation", "id": "GO:0002176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002176", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "axon target recognition", "id": "GO:0007412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007412", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "omega peptidase activity", "id": "GO:0008242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008242", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "alpha-2A adrenergic receptor binding", "id": "GO:0031694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031694", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" }, { "name": "neuron projection terminus", "id": "GO:0044306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044306", "evidence": [ { "database": "UniProtKB", "id": "P09936", "url": "https://www.uniprot.org/uniprot/P09936" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-5690319", "name": "UCHL1, UCHL3 cleave ubiquitin adducts", "equation": "", "summary": "UCHL1 and UCHL3 can hydrolyze several short C-terminal ubiquitin adducts to generate ubiquitin monomers (Wilkinson et al. 1989, Wada et al. 1998, Larsen et al. 1998). This liberates small molecule nucleophiles that may have inadvertently reacted with Ub C-terminal thiolesters. Because these enzymes can cleave small peptides from the C-terminus of Ub, they could also function in recycling Ub from incomplete proteasomal or lysosomal protein degradation. UCHL3, but not UCHL1, is able to cleave the C-terminus of Neural precursor cell expressed developmentally downregulated protein 8 (NEDD8), a ubiquitin-like protein that activates the largest ubiquitin E3 ligase family, the cullin-RING ligases (Wada et al. 1998, Enchev et al. 2015). UCHL1 and 3 are specifically expressed in neurons, cells of the diffuse neuroendocrine system and their tumors. A polymorphism (S18Y) in UCHL1 is associated with a reduced risk for Parkinson's disease (Wang et al. 2002) and its overexpression is protective in models of Alzheimer's disease (Gong et al. 2006). UCHL1 has been shown to interact with alpha-synuclein, but as a ubiquitin ligase rather than as a ubiquitin hydrolase (Liu et al. 2002). It is K63-polyubiquitinated by Parkin in cooperation with the Ubc13/Uev1a E2 ubiquitin-conjugating enzyme complex, promoting UCH-L1 degradation by the autophagy-lysosome pathway (McKeon et al. 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-1131871" ], "enzyme_list": [ "P15374-1", "P09936-1" ], "evidence": [ { "id": "R-HSA-5690319", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690319" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1131871", "participant_name": "L-lysine [cytoplasm]", "crossref": [ { "id": "32551", "database": "ChEBI", "url": "" }, { "id": "000001532522", "database": "ZINC", "url": "" }, { "id": "000001532522", "database": "ZINC", "url": "" }, { "id": "32551", "database": "ChEBI", "url": "" }, { "id": "32551", "database": "ChEBI", "url": "" }, { "id": "000001532522", "database": "ZINC", "url": "" }, { "id": "32551", "database": "ChEBI", "url": "" }, { "id": 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