{ "uniprot_canonical_ac": "O43252-1", "uniprot_ac": "O43252", "uniprot_id": "PAPS1_HUMAN", "mass": { "chemical_mass": 70833.0, "monoisotopic_mass": 70833.0 }, "refseq": { "ac": "NP_005434", "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "summary": "Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434" }, "gene_names": [ { "name": "PAPSS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43252", "id": "O43252" }, { "name": "ATPSK1; PAPSS; SK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434", "id": "NP_005434" }, { "name": "ATPSK1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43252", "id": "O43252" }, { "name": "PAPSS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434", "id": "NP_005434" }, { "name": "PAPSS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43252", "id": "O43252" } ], "protein_names": [ { "name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43252" }, { "name": "3'-phosphoadenosine-5'-phosphosulfate synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 1; SK 1; PAPSS 1; PAPS synthase 1; sulfurylase kinase 1; adenylyl-sulfate kinase; sulfate adenylyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434", "id": "NP_005434" }, { "name": "APS kinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "ATP-sulfurylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "Adenosine-5'-phosphosulfate 3'-phosphotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "Adenylylsulfate 3'-phosphotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "PAPS synthase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "PAPSS 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "SAT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "SK 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "SK1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "Sulfate adenylate transferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "Sulfurylase kinase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43252" }, { "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434", "id": "NP_005434" } ], "function": [ { "annotation": "Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway (PubMed:9576487, PubMed:9668121, PubMed:9648242, PubMed:14747722). Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells (PubMed:9576487).", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252#function" }, { "database": "PubMed", "id": "9648242", "url": "https://glygen.org/publication/PubMed/9648242" }, { "database": "PubMed", "id": "9668121", "url": "https://glygen.org/publication/PubMed/9668121" }, { "database": "PubMed", "id": "14747722", "url": "https://glygen.org/publication/PubMed/14747722" }, { "database": "PubMed", "id": "9576487", "url": "https://glygen.org/publication/PubMed/9576487" } ] }, { "annotation": "Leptin signalling links a novel SFK/ERK1/2-mediated pathway and SK1 expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434" }, { "database": "PubMed", "id": "25482303", "url": "https://glygen.org/publication/PubMed/25482303" } ] }, { "annotation": "The PAPSS1 gene is a modulator of response to cisplatin by regulating estrogen receptor alpha signaling activity in ovarian cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434" }, { "database": "PubMed", "id": "37684671", "url": "https://glygen.org/publication/PubMed/37684671" } ] }, { "annotation": "These data indicate that knocking down PAPSS increases UGT2B4 transcription and mRNA stability as a compensatory response to the loss of SULT2A1 activity", "evidence": [ { "database": "RefSeq", "id": "NP_005434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434" }, { "database": "PubMed", "id": "25948711", "url": "https://glygen.org/publication/PubMed/25948711" } ] }, { "annotation": "These results suggest that PAPSS1 inhibition enhances cisplatin activity in multiple preclinical model systems and that low PAPSS1 expression may serve as a biomarker for platin sensitivity in cancer patients. Developing strategies to target PAPSS1 activity in conjunction with platinum-based chemotherapy may offer an approach to improving treatment outcomes", "evidence": [ { "database": "RefSeq", "id": "NP_005434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434" }, { "database": "PubMed", "id": "28790117", "url": "https://glygen.org/publication/PubMed/28790117" } ] }, { "annotation": "Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434" } ] }, { "annotation": "We found that ectopic expression of oncogenic KRas and HRas in cells resulted in elevated CIB1 expression. We previously described the Ca(2+)-myristoyl switch function of CIB1, and its ability to facilitate agonist-induced plasma membrane localisation of sphingosine kinase 1 (SK1), a location where SK1 is known to elicit oncogenic signalling.", "evidence": [ { "database": "RefSeq", "id": "NP_005434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434" }, { "database": "PubMed", "id": "27941888", "url": "https://glygen.org/publication/PubMed/27941888" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43252", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43252" } ], "glycoeffect": [], "start_pos": 386, "end_pos": 386, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "107653571", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R386", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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}, { "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 37, "end_pos": 37, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes inhibition by the substrate adenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" }, { "database": "PubMed", "id": "17540769", "url": "https://glygen.org/publication/PubMed/17540769" } ] }, { "start_pos": 40, "end_pos": 40, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes inhibition by the substrate adenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" }, { "database": "PubMed", "id": "17540769", "url": "https://glygen.org/publication/PubMed/17540769" } ] }, { "start_pos": 425, "end_pos": 425, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" }, { "database": "PubMed", "id": "9915785", "url": "https://glygen.org/publication/PubMed/9915785" } ] }, { "start_pos": 426, "end_pos": 426, "sequence_org": "N", "sequence_mut": "K", "comment": "Increased activity.", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" }, { "database": "PubMed", "id": "9915785", "url": "https://glygen.org/publication/PubMed/9915785" } ] }, { "start_pos": 427, "end_pos": 427, "sequence_org": "G", "sequence_mut": "A", "comment": "30% decrease in activity.", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" }, { "database": "PubMed", "id": "9915785", "url": "https://glygen.org/publication/PubMed/9915785" } ] }, { "start_pos": 427, "end_pos": 428, "sequence_org": "GH", "sequence_mut": "AA", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" } ] }, { "start_pos": 428, "end_pos": 428, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" }, { "database": "PubMed", "id": "9915785", "url": "https://glygen.org/publication/PubMed/9915785" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "96.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138801" } ] }, { "tissue": { "name": "Prostate gland", 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"https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": 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"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", 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"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", 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"sequence": { "sequence": "MEIPGSLCKKVKLSNNAQNWGMQRATNVTYQAHHVSRNKRGQVVGTRGGFRGCTVWLTGLSGAGKTTVSMALEEYLVCHGIPCYTLDGDNIRQGLNKNLGFSPEDREENVRRIAEVAKLFADAGLVCITSFISPYTQDRNNARQIHEGASLPFFEVFVDAPLHVCEQRDVKGLYKKARAGEIKGFTGIDSEYEKPEAPELVLKTDSCDVNDCVQQVVELLQERDIVPVDASYEVKELYVPENKLHLAKTDAETLPALKINKVDMQWVQVLAEGWATPLNGFMREREYLQCLHFDCLLDGGVINLSVPIVLTATHEDKERLDGCTAFALMYEGRRVAILRNPEFFEHRKEERCARQWGTTCKNHPYIKMVMEQGDWLIGGDLQVLDRVYWNDGLDQYRLTPTELKQKFKDMNADAVFAFQLRNPVHNGHALLMQDTHKQLLERGYRRPVLLLHPLGGWTKDDDVPLMWRMKQHAAVLEEGVLNPETTVVAIFPSPMMYAGPTEVQWHCRARMVAGANFYIVGRDPAGMPHPETGKDLYEPSHGAKVLTMAPGLITLEIVPFRVAAYNKKKKRMDYYDSEHHEDFEFISGTRMRKLAREGQKPPEGFMAPKAWTVLTEYYKSLEKA", "length": 624, "header": "sp|O43252-1|PAPS1_HUMAN Isoform 1 of Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 OS=Homo sapiens OX=9606 GN=PAPSS1 PE=1 SV=2 CANONICAL=O43252-1" }, "locus": { "chromosome": "4", "start_pos": 107720179, "end_pos": 107614252, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": 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"https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 518, "end_pos": 518, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43252", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43252" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr518" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Redox regulation of cell signaling by selenocysteine in mammalian thioredoxin reductases.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sun QA, Wu Y, Zappacosta F, Jeang KT, Lee BJ, Hatfield DL, Gladyshev VN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2408550", 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Biophys. Res. 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"https://glygen.org/publication/PubMed/9576487" } ] }, { "title": "cDNA cloning, expression, and characterization of the human bifunctional ATP sulfurylase/adenosine 5'-phosphosulfate kinase enzyme.", "journal": "Bioscience, biotechnology, and biochemistry", "date": "1998", "authors": "Yanagisawa K, Sakakibara Y, Suiko M, Takami Y, Nakayama T, Nakajima H, Takayanagi K, Natori Y, Liu MC", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" } ], "reference": [ { "type": "PubMed", "id": "9648242", "url": "https://glygen.org/publication/PubMed/9648242" } ] }, { "title": "Molecular cloning, expression, and characterization of human bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase and its functional domains.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Venkatachalam KV, Akita H, Strott CA", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" 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Journal of biological chemistry", "date": "1999", "authors": "Venkatachalam KV, Fuda H, Koonin EV, Strott CA", "evidence": [ { "database": "UniProtKB", "id": "O43252", "url": "https://www.uniprot.org/uniprot/O43252" } ], "reference": [ { "type": "PubMed", "id": "9915785", "url": "https://glygen.org/publication/PubMed/9915785" } ] } ], "pathway": [ { "id": "hsa:9061", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9061", "resource": "KEGG Pathway" }, { "id": "R-HSA-174362", "name": "Transport and synthesis of PAPS", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174362", "resource": "Reactome", "description": "Transport and synthesis of PAPS" }, { "id": "R-HSA-2408550", "name": "Metabolism of ingested H2SeO4 and H2SeO3 into H2Se", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408550", "resource": "Reactome", "description": "Metabolism of ingested H2SeO4 and H2SeO3 into H2Se" }, { "id": "R-HSA-6802952", "name": "Signaling by BRAF and RAF1 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