{ "uniprot_canonical_ac": "Q86TP1-1", "uniprot_ac": "Q86TP1", "uniprot_id": "PRUN1_HUMAN", "mass": { "chemical_mass": 50200.0, "monoisotopic_mass": 50200.0 }, "refseq": { "ac": "XP_011508134", "name": "exopolyphosphatase PRUNE1 isoform X3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011508134" }, "gene_names": [ { "name": "PRUNE1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q86TP1", "id": "Q86TP1" }, { "name": "DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA; PRUNE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011508134", "id": "XP_011508134" }, { "name": "PRUNE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011508134", "id": "XP_011508134" }, { "name": "PRUNE", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q86TP1", "id": "Q86TP1" } ], "protein_names": [ { "name": "Exopolyphosphatase PRUNE1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q86TP1" }, { "name": "3.6.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q86TP1" }, { "name": "DRES-17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q86TP1" }, { "name": "DRES17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q86TP1" }, { "name": "Drosophila-related expressed sequence 17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q86TP1" }, { "name": "HTcD37", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q86TP1" }, { "name": "Protein prune homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q86TP1" }, { "name": "exopolyphosphatase PRUNE1 isoform X3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011508134", "id": "XP_011508134" }, { "name": "hPrune", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q86TP1" } ], "function": [ { "annotation": "Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (PubMed:28334956). Involved in the regulation of microtubule polymerization (PubMed:28334956).", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1#function" }, { "database": "PubMed", "id": "11687967", "url": "https://glygen.org/publication/PubMed/11687967" }, { "database": "PubMed", "id": "28334956", "url": "https://glygen.org/publication/PubMed/28334956" }, { "database": "PubMed", "id": "10602478", "url": "https://glygen.org/publication/PubMed/10602478" }, { "database": "PubMed", "id": "17906697", "url": "https://glygen.org/publication/PubMed/17906697" }, { "database": "PubMed", "id": "14998490", "url": "https://glygen.org/publication/PubMed/14998490" }, { "database": "PubMed", "id": "16428445", "url": "https://glygen.org/publication/PubMed/16428445" } ] } ], "disease": [ { "disease_id": "MONDO:0060490", "recommended_name": { "id": "MONDO:0060490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060490", "name": "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "description": "A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum." }, "synonyms": [ { "id": "MONDO:0060490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060490", "name": "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "description": "" }, { "id": "MONDO:0060490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060490", "name": "NMIHBA", "description": "" }, { "id": "MIM:617481", "resource": "MIM", "url": "https://www.omim.org/entry/617481", "name": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "description": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" } ], "evidence": [ { "id": "617481", "database": "MIM", "url": "https://www.omim.org/entry/617481" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 106, "end_pos": 106, "sequence_org": "D", "sequence_mut": "A", "comment": "No change in cAMPPDE activity. Partial loss of cAMPPDE activity; when associated with D-28. Partial loss of cAMPPDE activity; when associated with D-28 and D-179.", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" }, { "database": "PubMed", "id": "14998490", "url": "https://glygen.org/publication/PubMed/14998490" } ] }, { "start_pos": 126, "end_pos": 129, "sequence_org": "DHRP", "sequence_mut": "AAAA", "comment": "Partial loss of cAMPPDE activity.", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" }, { "database": "PubMed", "id": "14998490", "url": "https://glygen.org/publication/PubMed/14998490" } ] }, { "start_pos": 179, "end_pos": 179, "sequence_org": "D", "sequence_mut": "A", "comment": "Partial loss of cAMPPDE activity. Partial loss of cAMPPDE activity; when associated with D-28 and D-106.", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" }, { "database": "PubMed", "id": "14998490", "url": "https://glygen.org/publication/PubMed/14998490" } ] }, { "start_pos": 28, "end_pos": 28, "sequence_org": "D", "sequence_mut": "A", "comment": "Partial loss of cAMPPDE activity. Partial loss of cAMPPDE activity; when associated with D-106. Partial loss of cAMPPDE activity; when associated with D-106 and D-179.", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" }, { "database": "PubMed", "id": "14998490", "url": "https://glygen.org/publication/PubMed/14998490" } ] } ], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q86TP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q86TP1" } ], "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", 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"BioXpress", "id": "Q86TP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q86TP1" } ], "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": 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"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", 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"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": 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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": "Q86TP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q86TP1" } ], "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q86TP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q86TP1" } ], "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://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q86TP1" } ], "disease": [ { "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": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"MEDYLQGCRAALQESRPLHVVLGNEACDLDSTVSALALAFYLAKKVHIPESILIFRDEIDLHALYQAGQLTLILVDHHILSKSDTALEEAVAEVLDHRPIEPKHCPPCHVSVELVGSCATLVTERILQGAPEILDRQTAALLHGTIILDCVNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTGQSLAMLPRLVSNSWTQVIHQPQLPRVLELQICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 454, "header": "tr|A0A3B3ITN0-1|A0A3B3ITN0_HUMAN Computationally mapped isoform of Prune exopolyphosphatase 1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=1 CANONICAL=Q86TP1-1" }, "locus": { "chromosome": "1", "start_pos": 151034231, "end_pos": 151008633, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650332.1", "url": "https://www.ensembl.org/id/ENST00000650332.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497847.1", "url": "https://www.ensembl.org/id/ENSP00000497847.1" } ] } }, { "isoform_ac": "Q5SZF2-1", "url": "", "sequence": { "sequence": "MDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTICEVLERSHS", "length": 139, "header": "tr|Q5SZF2-1|Q5SZF2_HUMAN Computationally mapped isoform of Prune exopolyphosphatase 1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=8 CANONICAL=Q86TP1-1" }, "locus": { "chromosome": "1", "start_pos": 151033835, "end_pos": 151025541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450884.5", "url": "https://www.ensembl.org/id/ENST00000450884.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387696.1", "url": "https://www.ensembl.org/id/ENSP00000387696.1" } ] } }, { "isoform_ac": "Q5SZG1-1", "url": "", "sequence": { "sequence": "MDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMN", "length": 178, "header": "tr|Q5SZG1-1|Q5SZG1_HUMAN Computationally mapped isoform of Prune exopolyphosphatase 1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=1 CANONICAL=Q86TP1-1" }, "locus": { "chromosome": "1", "start_pos": 151034111, "end_pos": 151025541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431193.5", "url": "https://www.ensembl.org/id/ENST00000431193.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000392632.1", "url": "https://www.ensembl.org/id/ENSP00000392632.1" } ] } }, { "isoform_ac": "Q86TP1-1", "url": "", "sequence": { "sequence": "MEDYLQGCRAALQESRPLHVVLGNEACDLDSTVSALALAFYLAKTTEAEEVFVPVLNIKRSELPLRGDIVFFLQKVHIPESILIFRDEIDLHALYQAGQLTLILVDHHILSKSDTALEEAVAEVLDHRPIEPKHCPPCHVSVELVGSCATLVTERILQGAPEILDRQTAALLHGTIILDCVNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 453, "header": "sp|Q86TP1-1|PRUN1_HUMAN Isoform 1 of Exopolyphosphatase PRUNE1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=2 CANONICAL=Q86TP1-1" }, "locus": { "chromosome": "1", "start_pos": 151034231, "end_pos": 151008633, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000271620.8", "url": "https://www.ensembl.org/id/ENST00000271620.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000271620.3", "url": "https://www.ensembl.org/id/ENSP00000271620.3" } ] } }, { "isoform_ac": "Q86TP1-2", "url": "", "sequence": { "sequence": "MEDYLQGCRAALQESRPLHVVLGNEACDLDSTVSALALAFYLAKASDTALEEAVAEVLDHRPIEPKHCPPCHVSVELVGSCATLVTERILQGAPEILDRQTAALLHGTIILDCVNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 386, "header": "sp|Q86TP1-2|PRUN1_HUMAN Isoform 2 of Exopolyphosphatase PRUNE1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=2 CANONICAL=Q86TP1-1" }, "locus": {} }, { "isoform_ac": "Q86TP1-3", "url": "", "sequence": { "sequence": "MDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 271, "header": "sp|Q86TP1-3|PRUN1_HUMAN Isoform 3 of Exopolyphosphatase PRUNE1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=2 CANONICAL=Q86TP1-1" }, "locus": { "chromosome": "1", "start_pos": 151034231, "end_pos": 151025541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368936.5", "url": "https://www.ensembl.org/id/ENST00000368936.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000357932.1", "url": "https://www.ensembl.org/id/ENSP00000357932.1" } ] } }, { "isoform_ac": "Q86TP1-4", "url": "", "sequence": { "sequence": "MEDYLQGCRAALQETIILDCVNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 240, "header": "sp|Q86TP1-4|PRUN1_HUMAN Isoform 4 of Exopolyphosphatase PRUNE1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=2 CANONICAL=Q86TP1-1" }, "locus": {} }, { "isoform_ac": "Q86TP1-5", "url": "", "sequence": { "sequence": "MDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 218, "header": "sp|Q86TP1-5|PRUN1_HUMAN Isoform 5 of Exopolyphosphatase PRUNE1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=2 CANONICAL=Q86TP1-1" }, "locus": { "chromosome": "1", "start_pos": 151034231, "end_pos": 151025541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368934.1", "url": "https://www.ensembl.org/id/ENST00000368934.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000357930.1", "url": "https://www.ensembl.org/id/ENSP00000357930.1" } ] } }, { "isoform_ac": "Q86TP1-6", "url": "", "sequence": { "sequence": "MLRKDQKTIYRQGVKVAISAIYMDLEICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 168, "header": "sp|Q86TP1-6|PRUN1_HUMAN Isoform 6 of Exopolyphosphatase PRUNE1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=2 CANONICAL=Q86TP1-1" }, "locus": { "chromosome": "1", "start_pos": 151034231, "end_pos": 151027250, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368935.1", "url": "https://www.ensembl.org/id/ENST00000368935.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000357931.1", "url": "https://www.ensembl.org/id/ENSP00000357931.1" } ] } }, { "isoform_ac": "Q86TP1-7", "url": "", "sequence": { "sequence": "MLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK", "length": 221, "header": "sp|Q86TP1-7|PRUN1_HUMAN Isoform 7 of Exopolyphosphatase PRUNE1 OS=Homo sapiens OX=9606 GN=PRUNE1 PE=1 SV=2 CANONICAL=Q86TP1-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q86TP1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TP1" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 399, "end_pos": 399, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" }, { "database": "iPTMnet", "id": "Q86TP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TP1" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser399" }, { "start_pos": 410, "end_pos": 410, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "site_lbl": "Thr410" }, { "start_pos": 414, "end_pos": 414, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "site_lbl": "Ser414" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein.", "journal": "DNA Seq.", "date": "1998", "authors": "Volorio S, Simon G, Repetto M, Cucciardi M, Banfi S, Borsani G, Ballabio A, Zollo M", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "10524757", "url": "https://glygen.org/publication/PubMed/10524757" } ] }, { "title": "Evidence for interaction between human PRUNE and nm23-H1 NDPKinase.", "journal": "Oncogene", "date": "1999", "authors": "Merla G., Reymond A., Ballabio A., Zollo M., Zuffardi O., Bulfone A., Al-Maghtheh M., Volorio S.", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "10602478", "url": "https://glygen.org/publication/PubMed/10602478" } ] }, { "title": "Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity.", "journal": "Oncogene", "date": "2001", "authors": "Forus A, D'Angelo A, Henriksen J, Merla G, Maelandsmo GM, Florenes VA, Olivieri S, Bjerkehagen B, Meza-Zepeda LA, del Vecchio Blanco F, Muller C, Sanvito F, Kononen J, Nesland JM, Fodstad O, Reymond A, Kallioniemi OP, Arrigoni G, Ballabio A, Myklebost O, Zollo M", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "11687967", "url": "https://glygen.org/publication/PubMed/11687967" } ] }, { "title": "Prune cAMP phosphodiesterase binds nm23-H1 and promotes cancer metastasis.", "journal": "Cancer Cell", "date": "2004", "authors": "D'Angelo A, Garzia L, Andre A, Carotenuto P, Aglio V, Guardiola O, Arrigoni G, Cossu A, Palmieri G, Aravind L, Zollo M", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "14998490", "url": "https://glygen.org/publication/PubMed/14998490" } ] }, { "title": "Overexpression of h-prune in breast cancer is correlated with advanced disease status.", "journal": "Clin. Cancer Res.", "date": "2005", "authors": "Zollo M, Andre A, Cossu A, Sini MC, D'Angelo A, Marino N, Budroni M, Tanda F, Arrigoni G, Palmieri G", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "15671547", "url": "https://glygen.org/publication/PubMed/15671547" } ] }, { "title": "Glycogen synthase kinase 3 and h-prune regulate cell migration by modulating focal adhesions.", "journal": "Mol. Cell. Biol.", "date": "2006", "authors": "Kobayashi T, Hino S, Oue N, Asahara T, Zollo M, Yasui W, Kikuchi A", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "16428445", "url": "https://glygen.org/publication/PubMed/16428445" } ] }, { "title": "Domain mapping on the human metastasis regulator protein h-Prune reveals a C-terminal dimerization domain.", "journal": "Biochem. J.", "date": "2007", "authors": "Middelhaufe S, Garzia L, Ohndorf UM, Kachholz B, Zollo M, Steegborn C", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "17655525", "url": "https://glygen.org/publication/PubMed/17655525" } ] }, { "title": "Phosphorylation of nm23-H1 by CKI induces its complex formation with h-prune and promotes cell motility.", "journal": "Oncogene", "date": "2008", "authors": "Steegborn C., Zollo M., Iolascon A., D'Angelo A., Knauer S.K., Stauber R.H., Amoresano A., Campanella C., Cirulli C., Garzia L.", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "17906697", "url": "https://glygen.org/publication/PubMed/17906697" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q86TP1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TP1-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86TP1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease.", "journal": "Neuron", "date": "2015", "authors": "Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikasifoglu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "26539891", "url": "https://glygen.org/publication/PubMed/26539891" } ] }, { "title": "Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.", "journal": "Am. J. Med. Genet. A", "date": "2017", "authors": "Costain G, Shugar A, Krishnan P, Mahmutoglu S, Laughlin S, Kannu P", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "28211990", "url": "https://glygen.org/publication/PubMed/28211990" } ] }, { "title": "PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.", "journal": "Brain", "date": "2017", "authors": "Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "reference": [ { "type": "PubMed", "id": "28334956", "url": "https://glygen.org/publication/PubMed/28334956" } ] } ], "pathway": [ { "id": "hsa:58497", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:58497", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P38698-1", "protein_name": "Polyphosphatase", "gene_name": "PPX1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSPLRKTVPEFLAHLKSLPISKIASNDVLTICVGNESADMDSIASAITYSYCQYIYNEGTYSEEKKKGSFIVPIIDIPREDLSLRRDVMYVLEKLKIKEEELFFIEDLKSLKQNVSQGTELNSYLVDNNDTPKNLKNYIDNVVGIIDHHFDLQKHLDAEPRIVKVSGSCSSLVFNYWYEKLQGDREVVMNIAPLLMGAILIDTSNMRRKVEESDKLAIERCQAVLSGAVNEVSAQGLEDSSEFYKEIKSRKNDIKGFSVSDILKKDYKQFNFQGKGHKGLEIGLSSIVKRMSWLFNEHGGEADFVNQCRRFQAERGLDVLVLLTSWRKAGDSHRELVILGDSNVVRELIERVSDKLQLQLFGGNLDGGVAMFKQLNVEATRKQVVPYLEEAYSNLEE", "length": 397 }, "evidence": [ { "id": "Q86TP1", "url": "https://omabrowser.org/oma/group/Q86TP1/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q6AYG3-1", "protein_name": "Exopolyphosphatase PRUNE1", "gene_name": "Prune1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEDYLQDCRAALQESRPLHVVLGNEACDLDSMVSALALAFYLTKTSEAEDIFIPVLNIKRSELPLRGDNVFFLQEVKIAESALIFRDEIDLLALHQAGQLTLILVDHHMLPKSDAALEEAVAEVLDHRPIEQKYCPPCHVSVELVGSCATLVAERILQGAPETLDRQTAALLHGTIILDCVNMDAKIGKATLKDNEYVEKLEALFPDLPKRKDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGTKVAVSAVYMDLEAFLQRSGLLSDLSAFCQDHSYDALVAMAIFFNTHNEPVRQLAIFCPHEALRMTICGVLEQSTSPALKLTPIPSISAHLQAYLQGNTQVSRKKLLPVLQEALSAYLDSMRTPAGQLEAALGMSREQADKELDKASNSLIAGLSQDDEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTRACPSNK", "length": 454 }, "evidence": [ { "id": "45230456", "url": "http://www.informatics.jax.org/homology/45230456", "database": "MGI" }, { "id": "Q86TP1", "url": "https://omabrowser.org/oma/group/Q86TP1/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BIW1-1", "protein_name": "Exopolyphosphatase PRUNE1", "gene_name": "Prune1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEDYLQDCRAALQDSRPLHVVLGNEACDLDSMVSALALAFYLTKTSEAEDIFIPVLNIKRSELPLRGDNVFFLQEVKIPEPALIFRDEIDLLALHQAGQLTLILVDHHILPKSDAALEEAVAEVLDHRPIEQKYCPPCHVSVELVGSCATLVTERILQGAPETLDRQTAALLHGTIILDCVNMDTNIGKATPKDSKYVEELEALFPDLPKRKDIFDSLQKAKFDVSGLTTEQMLRKDQKTVYRQGTKVAISAIYMDLKAFLQRTDLFTDLSSFCHDHSYDALVAMTIFFNTQNEPVRQLAIFCPHEALRMTICGILERSTSPPLKLTPIPSTSPNLQAYHQGNTQVSRKKLLPVLQEALSAYLDSAKMASGQSEVAVGMSREQVDKDLDKASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKFSAEAVFEKCSQISLSQSARACTSNK", "length": 454 }, "evidence": [ { "id": "45230456", "url": "http://www.informatics.jax.org/homology/45230456", "database": "MGI" }, { "id": "Q86TP1", "url": "https://omabrowser.org/oma/group/Q86TP1/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "inorganic diphosphate phosphatase activity", "id": "GO:0004427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004427", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "exopolyphosphatase activity", "id": "GO:0004309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004309", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "pyrophosphatase activity", "id": "GO:0016462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016462", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "regulation of microtubule polymerization", "id": "GO:0031113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031113", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q86TP1", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "24576", "name": "", "equation": "diphosphate + H2O = H(+) + 2 phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I0D5-1", "Q6AYG3-1", "P08289-1", "Q15181-1", "Q9H2U2-1", "Q9H008-1", "Q86TP1-1", "P05186-1", "Q9D7I5-1", "Q9D819-1", "Q91VM9-1", "Q8BIW1-1", "P09242-1", "P00817-1", "P28239-1", "Q54PV8-1", "O77460-1" ], "evidence": [ { "id": "24576", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24576" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O77460", "gene_name": "Nurf-38", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "O77460", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O77460" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "O77460", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O77460" } ] } ] }, { "uniprot_ac": "P00817", "gene_name": "IPP1", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "P00817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00817" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "P00817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00817" } ] } ] }, { "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" } ] } ] }, { "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" } ] } ] }, { "uniprot_ac": "P28239", "gene_name": "PPA2", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "P28239", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28239" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "P28239", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28239" } ] } ] }, { "uniprot_ac": "Q15181", "gene_name": "PPA1", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q15181", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15181" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q15181", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15181" } ] } ] }, { "uniprot_ac": "Q54PV8", "gene_name": "ppa1", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q54PV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54PV8" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q54PV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54PV8" } ] } ] }, { "uniprot_ac": "Q5I0D5", "gene_name": "Lhpp", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q5I0D5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5I0D5" } ] }, { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { "id": "Q5I0D5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5I0D5" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q5I0D5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5I0D5" } ] } ] }, { "uniprot_ac": "Q6AYG3", "gene_name": "Prune1", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q6AYG3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYG3" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q6AYG3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYG3" } ] } ] }, { "uniprot_ac": "Q86TP1", "gene_name": "PRUNE1", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q86TP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q86TP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TP1" } ] } ] }, { "uniprot_ac": "Q8BIW1", "gene_name": "Prune1", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q8BIW1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BIW1" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q8BIW1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BIW1" } ] } ] }, { "uniprot_ac": "Q91VM9", "gene_name": "Ppa2", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q91VM9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91VM9" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q91VM9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91VM9" } ] } ] }, { "uniprot_ac": "Q9D7I5", "gene_name": "Lhpp", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q9D7I5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7I5" } ] }, { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { "id": "Q9D7I5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7I5" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q9D7I5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7I5" } ] } ] }, { "uniprot_ac": "Q9D819", "gene_name": "Ppa1", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q9D819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D819" } ] }, { "ec_number": "3.6.1.1", "activity": "", "evidence": [ { "id": "Q9D819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D819" } ] } ] }, { "uniprot_ac": "Q9H008", "gene_name": "LHPP", "activity": [ { "ec_number": "3.6.1.1", "activity": "diphosphate + H2O = H(+) + 2 phosphate.", "evidence": [ { "id": "Q9H008", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H008" } ] }, { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { 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}, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": 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