{ "uniprot_canonical_ac": "O95861-1", "uniprot_ac": "O95861", "uniprot_id": "BPNT1_HUMAN", "mass": { "chemical_mass": 33392.0, "monoisotopic_mass": 33392.0 }, "refseq": { "ac": "NP_001273078", "name": "3'(2'),5'-bisphosphate nucleotidase 1 isoform 2", "summary": "BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273078" }, "gene_names": [ { "name": "BPNT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95861", "id": "O95861" }, { "name": "BPNT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273078", "id": "NP_001273078" }, { "name": "HEL20; PIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273078", "id": "NP_001273078" } ], "protein_names": [ { "name": "3'(2'),5'-bisphosphate nucleotidase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95861" }, { "name": "3'(2'),5'-bisphosphate nucleotidase 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273078", "id": "NP_001273078" }, { "name": "3.1.3.7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95861" }, { "name": "BPntase; PAP-inositol-1,4-phosphatase; bisphosphate 3'-nucleotidase 1; epididymis luminal protein 20; testicular tissue protein Li 29", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273078", "id": "NP_001273078" }, { "name": "Bisphosphate 3'-nucleotidase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95861" }, { "name": "PAP-inositol 1,4-phosphatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95861" }, { "name": "PIP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95861" } ], "function": [ { "annotation": "BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001273078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273078" } ] }, { "annotation": "Converts adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS) and 3'(2')-phosphoadenosine 5'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4-trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6.", "evidence": [ { "database": "UniProtKB", "id": "O95861", "url": "https://www.uniprot.org/uniprot/O95861#function" }, { "database": "PubMed", "id": "10224133", "url": "https://glygen.org/publication/PubMed/10224133" } ] }, { "annotation": "Meta-analysis of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001273078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273078" }, { "database": "PubMed", "id": "20628624", "url": "https://glygen.org/publication/PubMed/20628624" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs758623038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758623038" }, { "id": "rs758623038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758623038" }, { "id": "rs758623038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758623038" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 153, "end_pos": 153, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQT).", "chr_id": "1", "chr_pos": "220067319", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171389471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171389471" }, { "id": "rs1171389471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171389471" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 282, "end_pos": 282, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "1", "chr_pos": "220058927", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371742684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371742684" }, { "id": "rs371742684", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371742684" }, { "id": "rs371742684", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371742684#frequency_tab" }, { "id": "rs371742684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371742684" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 41, "end_pos": 41, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "1", "chr_pos": "220074070", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T41", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162813", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162813" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95861" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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": "O95861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95861" } ], "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": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"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": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"Protein" ] }, { "id": "O95861-4", "url": "https://www.uniprot.org/uniprot/O95861-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP", "length": 308, "header": "sp|O95861-1|BPNT1_HUMAN Isoform 1 of 3'(2'),5'-bisphosphate nucleotidase 1 OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "isoforms": [ { "isoform_ac": "A6NF51-1", "url": "", "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDV", "length": 291, "header": "tr|A6NF51-1|BPNT1_HUMAN Computationally mapped isoform of 3'(2'),5'-bisphosphate nucleotidase 1 OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=2 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220079846, "end_pos": 220057915, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354807.7", "url": "https://www.ensembl.org/id/ENST00000354807.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000346862.3", "url": "https://www.ensembl.org/id/ENSP00000346862.3" } ] } }, { "isoform_ac": "F8VRY7-1", "url": "", "sequence": { "sequence": "MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWG", "length": 116, "header": "tr|F8VRY7-1|F8VRY7_HUMAN Computationally mapped isoform of 3'(2'),5'-bisphosphate nucleotidase OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220074026, "end_pos": 220062916, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480959.6", "url": "https://www.ensembl.org/id/ENST00000480959.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448740.1", "url": "https://www.ensembl.org/id/ENSP00000448740.1" } ] } }, { "isoform_ac": "F8VVW8-1", "url": "", "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLL", "length": 130, "header": "tr|F8VVW8-1|F8VVW8_HUMAN Computationally mapped isoform of 3'(2'),5'-bisphosphate nucleotidase OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=2 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220079846, "end_pos": 220067386, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000498237.3", "url": "https://www.ensembl.org/id/ENST00000498237.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000449883.2", "url": "https://www.ensembl.org/id/ENSP00000449883.2" } ] } }, { "isoform_ac": "F8VZG4-1", "url": "", "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGV", "length": 136, "header": "tr|F8VZG4-1|BPNT1_HUMAN Computationally mapped isoform of 3'(2'),5'-bisphosphate nucleotidase 1 OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220079846, "end_pos": 220062913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000498791.6", "url": "https://www.ensembl.org/id/ENST00000498791.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000446850.1", "url": "https://www.ensembl.org/id/ENSP00000446850.1" } ] } }, { "isoform_ac": "F8W1J0-1", "url": "", "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDC", "length": 170, "header": "tr|F8W1J0-1|F8W1J0_HUMAN Computationally mapped isoform of 3'(2'),5'-bisphosphate nucleotidase OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220079846, "end_pos": 220062811, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000463953.5", "url": "https://www.ensembl.org/id/ENST00000463953.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446953.1", "url": "https://www.ensembl.org/id/ENSP00000446953.1" } ] } }, { "isoform_ac": "O95861-1", "url": "", "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP", "length": 308, "header": "sp|O95861-1|BPNT1_HUMAN Isoform 1 of 3'(2'),5'-bisphosphate nucleotidase 1 OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220079846, "end_pos": 220058847, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469520.6", "url": "https://www.ensembl.org/id/ENST00000469520.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000446828.1", "url": "https://www.ensembl.org/id/ENSP00000446828.1" } ] } }, { "isoform_ac": "O95861-2", "url": "", "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVSHRTWPKPDFFRAQFFLESHSCFSRNFKNVSTPIKNIYDVIIYAYETDL", "length": 325, "header": "sp|O95861-2|BPNT1_HUMAN Isoform 2 of 3'(2'),5'-bisphosphate nucleotidase 1 OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "locus": {} }, { "isoform_ac": "O95861-3", "url": "", "sequence": { "sequence": "MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP", "length": 253, "header": "sp|O95861-3|BPNT1_HUMAN Isoform 3 of 3'(2'),5'-bisphosphate nucleotidase 1 OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220074026, "end_pos": 220058847, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544404.5", "url": "https://www.ensembl.org/id/ENST00000544404.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444398.1", "url": "https://www.ensembl.org/id/ENSP00000444398.1" } ] } }, { "isoform_ac": "O95861-4", "url": "", "sequence": { "sequence": "MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP", "length": 272, "header": "sp|O95861-4|BPNT1_HUMAN Isoform 4 of 3'(2'),5'-bisphosphate nucleotidase 1 OS=Homo sapiens OX=9606 GN=BPNT1 PE=1 SV=1 CANONICAL=O95861-1" }, "locus": { "chromosome": "1", "start_pos": 220079846, "end_pos": 220058847, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414869.6", "url": "https://www.ensembl.org/id/ENST00000414869.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000410348.2", "url": "https://www.ensembl.org/id/ENSP00000410348.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 41, "start_aa": "Thr", "end_pos": 41, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr41", "evidence": [ { "id": "O95861", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95861" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95861", "url": "https://www.uniprot.org/uniprot/O95861" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95861", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95861" } ], "site_lbl": "Thr122" }, { "start_pos": 240, "end_pos": 240, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95861", "url": "https://www.uniprot.org/uniprot/O95861" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95861", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95861" } ], "site_lbl": "Ser240" }, { "start_pos": 3, "end_pos": 3, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95861", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95861" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser3" }, { "start_pos": 6, "end_pos": 6, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95861", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95861" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr6" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of human iodothyronine sulfotransferases.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999", "authors": "Kester MH, Kaptein E, Roest TJ, van Dijk CH, Tibboel D, Meinl W, Glatt H, Coughtrie MW, Visser TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "10199779", "url": "https://glygen.org/publication/PubMed/10199779" } ] }, { "title": "Cloning and characterization of a mammalian lithium-sensitive bisphosphate 3'-nucleotidase inhibited by inositol 1,4-bisphosphate.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Spiegelberg BD, Xiong JP, Smith JJ, Gu RF, York JD", "evidence": [ { "database": "UniProtKB", "id": "O95861", "url": "https://www.uniprot.org/uniprot/O95861" }, { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "10224133", "url": "https://glygen.org/publication/PubMed/10224133" } ] }, { "title": "Sulfotransferase catalyzing sulfation of heterocyclic amines.", "journal": "Cancer letters", "date": "1999", "authors": "Yamazoe Y, Nagata K, Yoshinari K, Fujita K, Shiraga T, Iwasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "10503886", "url": "https://glygen.org/publication/PubMed/10503886" } ] }, { "title": "Sulfation of iodothyronines by recombinant human liver steroid sulfotransferases.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Li X, Anderson RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "10512730", "url": "https://glygen.org/publication/PubMed/10512730" } ] }, { "title": "Sulfation of iodothyronines by human sulfotransferase 1C1 (SULT1C1)*.", "journal": "Biochemical pharmacology", "date": "2000", "authors": "Li X, Clemens DL, Anderson RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "11077054", "url": "https://glygen.org/publication/PubMed/11077054" } ] }, { "title": "Sulfotransferases in the bioactivation of xenobiotics.", "journal": "Chemico-biological interactions", "date": "2000", "authors": "Glatt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "11154739", "url": "https://glygen.org/publication/PubMed/11154739" } ] }, { "title": "Expression and characterization of the human 3 beta-hydroxysteroid sulfotransferases (SULT2B1a and SULT2B1b).", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2001", "authors": "Meloche CA, Falany CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "11457664", "url": "https://glygen.org/publication/PubMed/11457664" } ] }, { "title": "Characterization of human liver thermostable phenol sulfotransferase (SULT1A1) allozymes with 3,3',5-triiodothyronine as the substrate.", "journal": "The Journal of endocrinology", "date": "2001", "authors": "Li X, Clemens DL, Cole JR, Anderson RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "11739018", "url": "https://glygen.org/publication/PubMed/11739018" } ] }, { "title": "Highly conserved mouse and human brain sulfotransferases: molecular cloning, expression, and functional characterization.", "journal": "Gene", "date": "2002", "authors": "Sakakibara Y, Suiko M, Pai TG, Nakayama T, Takami Y, Katafuchi J, Liu MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "12039030", "url": "https://glygen.org/publication/PubMed/12039030" } ] }, { "title": "Mutational analysis of human hydroxysteroid sulfotransferase SULT2B1 isoforms reveals that exon 1B of the SULT2B1 gene produces cholesterol sulfotransferase, whereas exon 1A yields pregnenolone sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fuda H, Lee YC, Shimizu C, Javitt NB, Strott CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "title": "Sulfonation and molecular action.", "journal": "Endocrine reviews", "date": "2002", "authors": "Strott CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "12372849", "url": "https://glygen.org/publication/PubMed/12372849" } ] }, { "title": "Endoglycan, a member of the CD34 family, functions as an L-selectin ligand through modification with tyrosine sulfation and sialyl Lewis x.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Fieger CB, Sassetti CM, Rosen SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "12889478", "url": "https://glygen.org/publication/PubMed/12889478" } ] }, { "title": "Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: functional genetic polymorphism.", "journal": "Journal of neurochemistry", "date": "2003", "authors": "Thomae BA, Rifki OF, Theobald MA, Eckloff BW, Wieben ED, Weinshilboum RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "14622112", "url": "https://glygen.org/publication/PubMed/14622112" } ] }, { "title": "The crystal structure of CCG1/TAF(II)250-interacting factor B (CIB).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Padmanabhan B, Kuzuhara T, Adachi N, Horikoshi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "14672934", "url": "https://glygen.org/publication/PubMed/14672934" } ] }, { "title": "Human SULT1A3 pharmacogenetics: gene duplication and functional genomic studies.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Hildebrandt MA, Salavaggione OE, Martin YN, Flynn HC, Jalal S, Wieben ED, Weinshilboum RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "15358107", "url": "https://glygen.org/publication/PubMed/15358107" } ] }, { "title": "Endoglycan, a member of the CD34 family of sialomucins, is a ligand for the vascular selectins.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2008", "authors": "Kerr SC, Fieger CB, Snapp KR, Rosen SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "18606703", "url": "https://glygen.org/publication/PubMed/18606703" } ] }, { "title": "Mass spectrometric kinetic analysis of human tyrosylprotein sulfotransferase-1 and -2.", "journal": "Journal of the American Society for Mass Spectrometry", "date": "2008", "authors": "Danan LM, Yu Z, Hoffhines AJ, Moore KL, Leary JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-156584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156584" } ], "reference": [ { "type": "PubMed", "id": "18672380", "url": "https://glygen.org/publication/PubMed/18672380" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95861-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95861-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Evaluation of 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