{ "uniprot_canonical_ac": "P11117-1", "uniprot_ac": "P11117", "uniprot_id": "PPAL_HUMAN", "mass": { "chemical_mass": 48344.0, "monoisotopic_mass": 48344.0 }, "refseq": { "ac": "NP_001289420", "name": "lysosomal acid phosphatase isoform 5 precursor", "summary": "The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" }, "gene_names": [ { "name": "ACP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11117", "id": "P11117" }, { "name": "ACP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420", "id": "NP_001289420" }, { "name": "LAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420", "id": "NP_001289420" } ], "protein_names": [ { "name": "Lysosomal acid phosphatase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11117" }, { "name": "3.1.3.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11117" }, { "name": "LAP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11117" }, { "name": "lysosomal acid phosphatase isoform 5 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420", "id": "NP_001289420" } ], "function": [ { "annotation": "An enzymatically inactive allele of mouse Acp2 causes cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" }, { "database": "PubMed", "id": "15503243", "url": "https://glygen.org/publication/PubMed/15503243" } ] }, { "annotation": "Clinical and molecular evaluation of 13 Brazilian patients with Gomez-Lopez-Hernandez syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" }, { "database": "PubMed", "id": "33381921", "url": "https://glygen.org/publication/PubMed/33381921" } ] }, { "annotation": "In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. (Meta-analysis) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" }, { "database": "PubMed", "id": "29422769", "url": "https://glygen.org/publication/PubMed/29422769" } ] }, { "annotation": "LAP-deficient mice exhibit multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures.", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" }, { "database": "PubMed", "id": "9228031", "url": "https://glygen.org/publication/PubMed/9228031" } ] }, { "annotation": "The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs750030860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750030860" }, { "id": "rs750030860", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750030860" }, { "id": "rs750030860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750030860" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 179, "end_pos": 179, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->NEN); o-glyco-site-loss (S->N).", "chr_id": "11", "chr_pos": "47245487", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1372018035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372018035" }, { "id": "rs1372018035", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372018035" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 269, "end_pos": 269, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI); o-glyco-site-loss (T->I).", "chr_id": "11", "chr_pos": "47243288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T269", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1361102955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361102955" }, { "id": "rs1361102955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361102955" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 127, "end_pos": 127, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGM->NGT).", "chr_id": "11", "chr_pos": "47245752", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753770611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753770611#frequency_tab" }, { "id": "rs753770611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753770611" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 133, "end_pos": 133, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->IIS).", "chr_id": "11", "chr_pos": "47245734", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753770611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753770611#frequency_tab" }, { "id": "rs753770611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753770611" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 133, "end_pos": 133, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->SIS).", "chr_id": "11", "chr_pos": "47245734", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs865928928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865928928" }, { "id": "rs865928928", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865928928" }, { "id": "rs865928928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs865928928#frequency_tab" }, { "id": "rs865928928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs865928928" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 135, "end_pos": 135, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIL).", "chr_id": "11", "chr_pos": "47245728", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs560625251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560625251" }, { "id": "rs560625251", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560625251" }, { "id": "rs560625251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560625251" }, { "id": "rs560625251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560625251" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 191, "end_pos": 191, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->KET).", "chr_id": "11", "chr_pos": "47245371", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1591017209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1591017209" }, { "id": "rs1591017209", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1591017209" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 193, "end_pos": 193, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEA).", "chr_id": "11", "chr_pos": "47245367", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1392183528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392183528" }, { "id": "rs1392183528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392183528" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 193, "end_pos": 193, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NER).", "chr_id": "11", "chr_pos": "47245366", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1207534815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207534815" }, { "id": "rs1207534815", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1207534815#frequency_tab" }, { "id": "rs1207534815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207534815" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 237, "end_pos": 237, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "11", "chr_pos": "47244798", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1388226509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388226509" }, { 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"id": "rs761782200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761782200" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 322, "end_pos": 322, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "11", "chr_pos": "47242896", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756234829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756234829" }, { "id": "rs756234829", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756234829" }, { "id": "rs756234829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756234829" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 94, "end_pos": 94, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTP).", "chr_id": "11", "chr_pos": "47247658", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S94", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11117", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11117" } ], "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 mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "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", 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}, { "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 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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11117", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11117" } ], "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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P11117", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11117" } ], "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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"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": "P11117", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11117" } ], "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 cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11117", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11117" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117" } ], "common_name": "Human" } ], "gene": [ { "name": "ACP2", "url": "https://www.uniprot.org/uniprot/P11117", "locus": { "chromosome": "11", "start_pos": 47239302, "end_pos": 47248906, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000134575", "url": "https://www.ensembl.org/id/ENSG00000134575" } ] } } ], "crossref": [ { "id": "ENSG00000134575", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134575", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd07061", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07061", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ACP2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "53", "url": "https://www.ncbi.nlm.nih.gov/gene/53", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1476", "url": "https://glyconnect.expasy.org/browser/proteins/1476", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "123", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=123", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P11117", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11117*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000560", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000560", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029033", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029033", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033379", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033379", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:53", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:53", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "171650", "url": "http://www.omim.org/entry/171650", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P11117", "url": "https://www.nextprot.org/entry/NX_P11117", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P11117", "url": "https://oglcnac.org/atlas/detail/P11117", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P11117", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11117", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QESDWPQ", "url": "https://omabrowser.org/oma/group/QESDWPQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5489935at2759", "url": "http://www.orthodb.org/?query=5489935at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11567", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11567", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11567:SF180", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11567:SF180", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00328", "url": "http://pfam.xfam.org/family/PF00328", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11117", "url": "https://pharos.nih.gov/targets/P11117", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11117", "url": "http://purl.obolibrary.org/obo/PR_P11117", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "15017", "url": "https://www.rhea-db.org/rhea/15017", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P11117", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A5F9ZH40", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH40", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZH40-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH40-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZH82", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH82", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZH82-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH82-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZHR7", "url": "https://www.uniprot.org/uniprot/A0A5F9ZHR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZHR7-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZHR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI20", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI20", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI20-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI20-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z6U3", "url": "https://www.uniprot.org/uniprot/B7Z6U3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z6U3-1", "url": "https://www.uniprot.org/uniprot/B7Z6U3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z7D2", "url": "https://www.uniprot.org/uniprot/B7Z7D2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z7D2-1", "url": "https://www.uniprot.org/uniprot/B7Z7D2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHY0", "url": "https://www.uniprot.org/uniprot/E9PHY0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHY0-1", "url": "https://www.uniprot.org/uniprot/E9PHY0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQY3", "url": "https://www.uniprot.org/uniprot/E9PQY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQY3-1", "url": "https://www.uniprot.org/uniprot/E9PQY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11117-1", "url": "https://www.uniprot.org/uniprot/P11117-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11117-2", "url": "https://www.uniprot.org/uniprot/P11117-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHA", "length": 423, "header": "sp|P11117-1|PPAL_HUMAN Isoform 1 of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=3 CANONICAL=P11117-1" }, "isoforms": [ { "isoform_ac": "A0A5F9ZH40-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRSRTETLIHFS", "length": 160, "header": "tr|A0A5F9ZH40-1|PPAL_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47245398, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673511.1", "url": "https://www.ensembl.org/id/ENST00000673511.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500010.1", "url": "https://www.ensembl.org/id/ENSP00000500010.1" } ] } }, { "isoform_ac": "A0A5F9ZH82-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPW", "length": 305, "header": "tr|A0A5F9ZH82-1|A0A5F9ZH82_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47242847, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673604.1", "url": "https://www.ensembl.org/id/ENST00000673604.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500179.1", "url": "https://www.ensembl.org/id/ENSP00000500179.1" } ] } }, { "isoform_ac": "A0A5F9ZHR7-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHAXQPLSPLPSTS", "length": 434, "header": "tr|A0A5F9ZHR7-1|PPAL_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47240086, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672636.2", "url": "https://www.ensembl.org/id/ENST00000672636.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000500571.2", "url": "https://www.ensembl.org/id/ENSP00000500571.2" } ] } }, { "isoform_ac": "A0A5F9ZI20-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRD", "length": 151, "header": "tr|A0A5F9ZI20-1|PPAL_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47245420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672075.1", "url": "https://www.ensembl.org/id/ENST00000672075.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500836.1", "url": "https://www.ensembl.org/id/ENSP00000500836.1" } ] } }, { "isoform_ac": "B7Z6U3-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRQAQVTRTVEHSA", "length": 162, "header": "tr|B7Z6U3-1|PPAL_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47245223, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672787.1", "url": "https://www.ensembl.org/id/ENST00000672787.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500408.1", "url": "https://www.ensembl.org/id/ENSP00000500408.1" } ] } }, { "isoform_ac": "B7Z7D2-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHA", "length": 391, "header": "tr|B7Z7D2-1|PPAL_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47240119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527256.7", "url": "https://www.ensembl.org/id/ENST00000527256.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000432205.1", "url": "https://www.ensembl.org/id/ENSP00000432205.1" } ] } }, { "isoform_ac": "E9PHY0-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHA", "length": 360, "header": "tr|E9PHY0-1|PPAL_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47240119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529444.7", "url": "https://www.ensembl.org/id/ENST00000529444.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000436658.1", "url": "https://www.ensembl.org/id/ENSP00000436658.1" } ] } }, { "isoform_ac": "E9PQY3-1", "url": "", "sequence": { "sequence": "MGVRMTEYVGLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHA", "length": 395, "header": "tr|E9PQY3-1|PPAL_HUMAN Computationally mapped isoform of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=1 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248514, "end_pos": 47240119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533929.7", "url": "https://www.ensembl.org/id/ENST00000533929.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000432439.1", "url": "https://www.ensembl.org/id/ENSP00000432439.1" } ] } }, { "isoform_ac": "P11117-1", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHA", "length": 423, "header": "sp|P11117-1|PPAL_HUMAN Isoform 1 of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=3 CANONICAL=P11117-1" }, "locus": { "chromosome": "11", "start_pos": 47248789, "end_pos": 47240119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000256997.9", "url": "https://www.ensembl.org/id/ENST00000256997.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000256997.3", "url": "https://www.ensembl.org/id/ENSP00000256997.3" } ] } }, { "isoform_ac": "P11117-2", "url": "", "sequence": { "sequence": "MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRVRVASPSLGW", "length": 160, "header": "sp|P11117-2|PPAL_HUMAN Isoform 2 of Lysosomal acid phosphatase OS=Homo sapiens OX=9606 GN=ACP2 PE=1 SV=3 CANONICAL=P11117-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G11870QZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G12313PD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G47012YE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G47644PP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "P11117", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G62894KT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G76417NN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "P11117", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P11117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11117#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "P11117", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "P11117", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "1476", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1476" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", 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"https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "P11117", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P11117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11117#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, 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J. Biochem.", "date": "1989", "authors": "Geier C, von Figura K, Pohlmann R", "evidence": [ { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117" } ], "reference": [ { "type": "PubMed", "id": "2776754", "url": "https://glygen.org/publication/PubMed/2776754" } ] }, { "title": "A genome-wide association study of corneal astigmatism: The CREAM Consortium.", "journal": "Molecular vision", "date": "2018", "authors": "Shah RL, Li Q, Zhao W, Tedja MS, Tideman JWL, Khawaja AP, Fan Q, Yazar S, Williams KM, Verhoeven VJM, Xie J, Wang YX, Hess M, Nickels S, Lackner KJ, Parssinen O, Wedenoja J, Biino G, Concas MP, Uitterlinden A, Rivadeneira F, Jaddoe VWV, Hysi PG, Sim X, Tan N, Tham YC, Sensaki S, Hofman A, Vingerling JR, Jonas JB, Mitchell P, Hammond CJ, Hohn R, Baird PN, Wong TY, Cheng CY, Teo YY, Mackey DA, Williams C, Saw SM, Klaver CCW, Guggenheim JA, Bailey-Wilson JE", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" } ], "reference": [ { "type": "PubMed", "id": "29422769", "url": "https://glygen.org/publication/PubMed/29422769" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P11117", "url": "" }, { "database": "GlyConnect", "id": "1476", "url": "https://glyconnect.expasy.org/browser/proteins/1476" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Distinct urinary glycoprotein signatures in prostate cancer patients.", "journal": "Oncotarget", "date": "2018", "authors": "Kawahara R, Ortega F, Rosa-Fernandes L, Guimaraes V, Quina D, Nahas W, Schwammle V, Srougi M, Leite KRM, Thaysen-Andersen M, Larsen MR, Palmisano G", "evidence": [ { "database": "GlyConnect", "id": "1476", "url": "https://glyconnect.expasy.org/browser/proteins/1476" } ], "reference": [ { "type": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "title": "Human lysosomal acid phosphatase is transported as a transmembrane protein to lysosomes in transfected baby hamster kidney cells.", "journal": "The EMBO journal", "date": "1988", "authors": "Waheed A, Gottschalk S, Hille A, Krentler C, Pohlmann R, Braulke T, Hauser H, Geuze H, von Figura K", "evidence": [ { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117#ptm_processing" }, { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117" } ], "reference": [ { "type": "PubMed", "id": "3056714", "url": "https://glygen.org/publication/PubMed/3056714" } ] }, { "title": "Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment.", "journal": "EMBO J.", "date": "1988", "authors": "Pohlmann R, Krentler C, Schmidt B, Schroder W, Lorkowski G, Culley J, Mersmann G, Geier C, Waheed A, Gottschalk S, et al.", "evidence": [ { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117" } ], "reference": [ { "type": "PubMed", "id": "3191910", "url": "https://glygen.org/publication/PubMed/3191910" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11117", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11117" }, { "database": "O-GlcNAc Atlas", "id": "P11117", "url": "https://oglcnac.org/atlas/detail/P11117" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Clinical and molecular evaluation of 13 Brazilian patients with Gomez-Lopez-Hernandez syndrome.", "journal": "American journal of medical genetics. Part A", "date": "2021", "authors": "Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" } ], "reference": [ { "type": "PubMed", "id": "33381921", "url": "https://glygen.org/publication/PubMed/33381921" } ] }, { "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": "P11117", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11117" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Tumor cells express pauci- and oligomannosidic N-glycans in glycoproteins recognized by the mannose receptor (CD206).", "journal": "Cellular and molecular life sciences : CMLS", "date": "2021", "authors": "Stavenhagen K, Laan LC, Gao C, Mehta AY, Heimburg-Molinaro J, Glickman JN, van Die I, Cummings RD", "evidence": [ { "database": "UniCarbKB", "id": "P11117", "url": "" } ], "reference": [ { "type": "PubMed", "id": "34089345", "url": "https://glygen.org/publication/PubMed/34089345" } ] }, { "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": "P11117", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11117" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11117", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11117" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11117", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11117" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.", "journal": "N. Engl. J. Med.", "date": "1970", "authors": "Nadler H L, Egan T J", "evidence": [ { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117" } ], "reference": [ { "type": "PubMed", "id": "5410815", "url": "https://glygen.org/publication/PubMed/5410815" } ] }, { "title": "Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Saftig P, Hartmann D, Lullmann-Rauch R, Wolff J, Evers M, Koster A, Hetman M, von Figura K, Peters C", "evidence": [ { "database": "RefSeq", "id": "NP_001289420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289420" } ], "reference": [ { "type": "PubMed", "id": "9228031", "url": "https://glygen.org/publication/PubMed/9228031" } ] } ], "pathway": [ { "id": "hsa:53", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:53", "resource": "KEGG Pathway" } ], "orthologs": [ { 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"annotation": "n_glycosylation_sequon" }, { "start_pos": 191, "end_pos": 193, "annotation": "n_glycosylation_sequon" }, { "start_pos": 267, "end_pos": 269, "annotation": "n_glycosylation_sequon" }, { "start_pos": 322, "end_pos": 324, "annotation": "n_glycosylation_sequon" }, { "start_pos": 331, "end_pos": 333, "annotation": "n_glycosylation_sequon" }, { "start_pos": 92, "end_pos": 94, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.", "evidence": [ { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "3056714", "url": "https://glygen.org/publication/PubMed/3056714" } ] }, { "annotation": "The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen.", "evidence": [ { "database": "UniProtKB", "id": "P11117", "url": "https://www.uniprot.org/uniprot/P11117" }, { "database": "PubMed", "id": "2684640", "url": "https://glygen.org/publication/PubMed/2684640" }, { "database": "PubMed", "id": "3056714", "url": "https://glygen.org/publication/PubMed/3056714" } ] } ], "interactions": [], "reactions": [ { "id": "15017", "name": "", "equation": "a phosphate monoester + H2O = an alcohol + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P20611-1", "P51740-1", "P08289-1", "P15693-1", "P29288-1", "P20646-1", "P41498-1", "F1M8U7-1", "A0A0G2JZL2-1", "D4ADM6-1", "M0RCA8-1", "A0A8I6G7Q4-1", "Q6ZNF0-1", "Q9BZG2-1", "P13686-1", "P11117-1", "P05186-1", "P15309-1", "P09923-1", "Q9NPH0-1", "P05187-1", "P10696-1", "P24666-1", "Q8BX37-1", "D3YTS9-1", "Q8BP40-1", "Q9D358-1", "Q05117-1", 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"https://www.uniprot.org/uniprot/D4ADM6" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "D4ADM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4ADM6" } ] } ] }, { "uniprot_ac": "F1M8U7", "gene_name": "Alpg", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "F1M8U7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M8U7" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "F1M8U7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M8U7" } ] } ] }, { "uniprot_ac": "F8VPQ6", "gene_name": "Alpi", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "F8VPQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F8VPQ6" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "F8VPQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F8VPQ6" } ] } ] }, { "uniprot_ac": "M0RCA8", "gene_name": "Acp7", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "M0RCA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0RCA8" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "M0RCA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0RCA8" } ] } ] }, { "uniprot_ac": "P00635", "gene_name": "PHO5", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P00635", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00635" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P00635", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00635" } ] } ] }, { "uniprot_ac": "P05186", "gene_name": "ALPL", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.9.1.1", "activity": "H2O + N-phosphocreatine = creatine + phosphate.", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.9.1.1", "activity": "", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] } ] }, { "uniprot_ac": "P05187", "gene_name": "ALPP", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P05187", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05187" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P05187", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05187" } ] } ] }, { "uniprot_ac": "P08289", "gene_name": "Alpl", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P08289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08289" } ] }, { "ec_number": "3.9.1.1", "activity": "H2O + N-phosphocreatine = creatine + phosphate.", "evidence": [ { "id": "P08289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08289" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P08289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08289" } ] } ] }, { "uniprot_ac": "P09242", "gene_name": "Alpl", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P09242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09242" } ] }, { "ec_number": "3.9.1.1", "activity": "H2O + N-phosphocreatine = creatine + phosphate.", "evidence": [ { "id": "P09242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09242" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P09242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09242" } ] }, { "ec_number": "3.9.1.1", "activity": "", "evidence": [ { "id": "P09242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09242" } ] } ] }, { "uniprot_ac": "P09923", "gene_name": "ALPI", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P09923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09923" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P09923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09923" } ] } ] }, { "uniprot_ac": "P10696", "gene_name": "ALPG", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P10696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10696" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P10696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10696" } ] } ] }, { "uniprot_ac": "P11117", "gene_name": "ACP2", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P11117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11117" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P11117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11117" } ] } ] }, { "uniprot_ac": "P11491", "gene_name": "PHO8", "activity": [ { "ec_number": "3.1.7.6", "activity": "(2E,6E)-farnesyl diphosphate + H2O = (2E,6E)-farnesol + diphosphate.", "evidence": [ { "id": "P11491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11491" } ] }, { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P11491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11491" } ] }, { "ec_number": "3.1.3.54", "activity": "beta-D-fructose 2,6-bisphosphate + H2O = beta-D-fructose 2-phosphate + phosphate.", "evidence": [ { "id": "P11491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11491" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P11491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11491" } ] } ] }, { "uniprot_ac": "P13686", "gene_name": "ACP5", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P13686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13686" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P13686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13686" } ] } ] }, { "uniprot_ac": "P15309", "gene_name": "ACP3", "activity": [ { "ec_number": "3.1.3.5", "activity": "a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] } ] }, { "uniprot_ac": "P15693", "gene_name": "Alpi", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P15693", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15693" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P15693", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15693" } ] } ] }, { "uniprot_ac": "P20611", "gene_name": "Acp2", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P20611", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20611" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P20611", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20611" } ] } ] }, { "uniprot_ac": "P20646", "gene_name": "Acp3", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P20646", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20646" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P20646", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20646" } ] }, { "ec_number": "3.1.3.5", "activity": "a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate.", "evidence": [ { "id": "P20646", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20646" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P20646", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20646" } ] } ] }, { "uniprot_ac": "P24031", "gene_name": "PHO3", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P24031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24031" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P24031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24031" } ] } ] }, { "uniprot_ac": "P24638", "gene_name": "Acp2", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P24638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24638" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P24638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24638" } ] } ] }, { "uniprot_ac": "P24666", "gene_name": "ACP1", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P24666", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24666" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P24666", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24666" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P24666", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24666" } ] } ] }, { "uniprot_ac": "P24822", "gene_name": "Iap", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P24822", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24822" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P24822", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24822" } ] } ] }, { "uniprot_ac": "P24823", "gene_name": "Alpg", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P24823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24823" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P24823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24823" } ] } ] }, { "uniprot_ac": "P29288", "gene_name": "Acp5", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P29288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29288" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P29288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29288" } ] } ] }, { "uniprot_ac": "P35842", "gene_name": "PHO11", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P35842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35842" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P35842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35842" } ] } ] }, { "uniprot_ac": "P38693", "gene_name": "PHO12", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P38693", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38693" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P38693", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38693" } ] } ] }, { "uniprot_ac": "P40347", "gene_name": "LTP1", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P40347", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40347" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P40347", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40347" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P40347", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40347" } ] } ] }, { "uniprot_ac": "P41498", "gene_name": "Acp1", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P41498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41498" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P41498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41498" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P41498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41498" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P41498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41498" } ] } ] }, { "uniprot_ac": "P51740", "gene_name": "", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P51740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51740" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P51740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51740" } ] } ] }, { "uniprot_ac": "P52290", "gene_name": "DIA3", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P52290", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52290" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P52290", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52290" } ] } ] }, { "uniprot_ac": "P82890", "gene_name": "primo-1", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P82890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P82890" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P82890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P82890" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P82890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P82890" } ] } ] }, { "uniprot_ac": "P82891", "gene_name": "primo-2", "activity": [ { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P82891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P82891" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P82891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P82891" } ] }, { "ec_number": "3.1.3.48", "activity": 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