{ "uniprot_canonical_ac": "O43314-1", "uniprot_ac": "O43314", "uniprot_id": "VIP2_HUMAN", "mass": { "chemical_mass": 140407.0, "monoisotopic_mass": 140407.0 }, "refseq": { "ac": "NP_001263206", "name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1", "summary": "This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" }, "gene_names": [ { "name": "PPIP5K2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43314", "id": "O43314" }, { "name": "CFAP160; DFNB100; HISPPD1; IP7K2; VIP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206", "id": "NP_001263206" }, { "name": "HISPPD1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43314", "id": "O43314" }, { "name": "KIAA0433", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43314", "id": "O43314" }, { "name": "PPIP5K2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206", "id": "NP_001263206" }, { "name": "VIP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43314", "id": "O43314" } ], "protein_names": [ { "name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43314" }, { "name": "2.7.4.24", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43314" }, { "name": "Diphosphoinositol pentakisphosphate kinase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43314" }, { "name": "Histidine acid phosphatase domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43314" }, { "name": "InsP6 and PP-IP5 kinase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43314" }, { "name": "VIP1 homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43314" }, { "name": "hsVIP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43314" }, { "name": "inositol heptaphosphate kinase 2; inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2; VIP1 homolog 2; insP6 and PP-IP5 kinase 2; histidine acid phosphatase domain-containing protein 1; deafness, autosomal recessive 100", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206", "id": "NP_001263206" }, { "name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206", "id": "NP_001263206" } ], "function": [ { "annotation": "Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). Phosphorylates inositol hexakisphosphate (InsP6) at position 1 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Alternatively, phosphorylates PP-InsP5 at position 1, produced by IP6Ks from InsP6, to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Required for normal hearing (PubMed:29590114).", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314#function" }, { "database": "PubMed", "id": "17690096", "url": "https://glygen.org/publication/PubMed/17690096" }, { "database": "PubMed", "id": "21222653", "url": "https://glygen.org/publication/PubMed/21222653" }, { "database": "PubMed", "id": "29590114", "url": "https://glygen.org/publication/PubMed/29590114" }, { "database": "PubMed", "id": "17702752", "url": "https://glygen.org/publication/PubMed/17702752" } ] }, { "annotation": "Bifunctional inositol kinase that acts in concert with the IP6K kinases to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, may regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, and exocytosis. Phosphorylates inositol hexakisphosphate (InsP6).", "evidence": [ { "database": "UniProtKB", "id": "A0A087WZV0", "url": "https://www.uniprot.org/uniprot/A0A087WZV0#function" }, { "database": "UniProtKB", "id": "RU365032", "url": "https://www.uniprot.org/uniprot/RU365032#function" }, { "database": "UniProtKB", "id": "D6RBU4", "url": "https://www.uniprot.org/uniprot/D6RBU4#function" }, { "database": "UniProtKB", "id": "H0Y9S9", "url": "https://www.uniprot.org/uniprot/H0Y9S9#function" }, { "database": "UniProtKB", "id": "A0A8V8TMN4", "url": "https://www.uniprot.org/uniprot/A0A8V8TMN4#function" } ] }, { "annotation": "Data suggest that the enzyme-substrate forces are predictive of the various diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2) catalytic activities.", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" }, { "database": "PubMed", "id": "30956131", "url": "https://glygen.org/publication/PubMed/30956131" } ] }, { "annotation": "Demonstration that PPIP5K2 has a role in hearing in humans indicates that PP-IP signaling is important to hair cell maintenance and function within inner ear Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" }, { "database": "PubMed", "id": "29590114", "url": "https://glygen.org/publication/PubMed/29590114" } ] }, { "annotation": "Describe the PPIP5K2's conformational dynamics, its unprecedented topological presentation of nucleotide and inositol phosphate, and the charge balance that facilitates partly associative in-line phosphoryl transfer Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" }, { "database": "PubMed", "id": "22119861", "url": "https://glygen.org/publication/PubMed/22119861" } ] }, { "annotation": "PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" }, { "database": "PubMed", "id": "31852976", "url": "https://glygen.org/publication/PubMed/31852976" } ] }, { "annotation": "PPIP5K2 promotes colorectal carcinoma pathogenesis through facilitating DNA homologous recombination repair.", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" }, { "database": "PubMed", "id": "34645979", "url": "https://glygen.org/publication/PubMed/34645979" } ] }, { "annotation": "The specificity constants for PPIP5K2 revise upwards by one-to-two orders of magnitude the inherent catalytic activities of this enzyme, and we show its equilibrium point favours 80-90% depletion of InsP/-InsP. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" }, { "database": "PubMed", "id": "23240582", "url": "https://glygen.org/publication/PubMed/23240582" } ] }, { "annotation": "This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" } ] } ], "disease": [ { "disease_id": "DOID:0111638", "recommended_name": { "id": "DOID:0111638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111638", "name": "autosomal recessive nonsyndromic deafness 100", "description": "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1." }, "synonyms": [ { "id": "DOID:0111638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111638", "name": "DFNB100", "description": "" }, { "id": "DOID:0111638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111638", "name": "autosomal recessive deafness 100", "description": "" }, { "id": "MONDO:0032740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032740", "name": "hearing loss, autosomal recessive 100", "description": "" }, { "id": "MONDO:0032740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032740", "name": "DFNB100", "description": "" }, { "id": "MONDO:0032740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032740", "name": "deafness, autosomal recessive 100", "description": "" }, { "id": "MIM:618422", "resource": "MIM", "url": "https://www.omim.org/entry/618422", "name": "Deafness, autosomal recessive, 100", "description": "Deafness, autosomal recessive, 100" } ], "evidence": [ { "id": "618422", "database": "MIM", "url": "https://www.omim.org/entry/618422" } ] } ], "snv": [ { "evidence": [ { "id": "rs1554224333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554224333" }, { "id": "rs1554224333", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554224333" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1054, "end_pos": 1054, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NRT).", "chr_id": "5", "chr_pos": "103184736", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450067914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450067914" }, { "id": "rs1450067914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450067914#frequency_tab" }, { "id": "rs1450067914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450067914" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1054, "end_pos": 1054, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NTT).", "chr_id": "5", "chr_pos": "103184735", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43314", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43314" } ], "glycoeffect": [], "start_pos": 1061, "end_pos": 1061, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "103186332", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1061", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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" } ] }, { "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 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, 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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs782029033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782029033" }, { "id": "rs782029033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782029033" }, { "id": "rs782029033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782029033" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1178, "end_pos": 1178, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "5", "chr_pos": "103194940", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43314", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43314" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1198, "end_pos": 1198, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "5", "chr_pos": "103195000", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K1198", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43314" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43314", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43314" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"length": 1243, "header": "sp|O43314-1|VIP2_HUMAN Isoform 1 of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=3 CANONICAL=O43314-1" }, "isoforms": [ { "isoform_ac": "A0A087WWN8-1", "url": "", "sequence": { "sequence": "XLRYGALCNTNDSQNEDGGMVKEMESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDEESPLSVSSPEGTGTWLHYTSGVGTGRRRRRSGEQITSSPVSPKSLAFTSSIFGSWQQVVSENANYLRTPRTLVEQKQNPTVGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKK", "length": 357, "header": "tr|A0A087WWN8-1|A0A087WWN8_HUMAN Computationally mapped isoform of Diphosphoinositol pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103201613, "end_pos": 103173947, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613907.4", "url": "https://www.ensembl.org/id/ENST00000613907.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480381.1", "url": "https://www.ensembl.org/id/ENSP00000480381.1" } ] } }, { "isoform_ac": "A0A087WZV0-1", "url": "", "sequence": { "sequence": "MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPMKEILERISLFKYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLAFKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSIPLEAEDIPIVPTTSGTMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSGKLKLKKPKQLQEVLDIARQLLMELGQNNDSEIEENKPKLEQLKTVLEMYGHFSGINRKVQLTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHSTYRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDSDSLSSCQQRVKARLHEILQKDRDFTAEDYEKLTPSGSISLIKSMHLIKNPVKTCDKVYSLIQSLTSQIRHRMEDPKSSDIQLYHSETLELMLRRWSKLEKDFKTKNGRYDISKIPDIYDCIKYDVQHNGSLKLENTMELYRLSKALADIVIPQEYGITKAEKLEIAKGYCTPLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTSESHVHSLLSILRYGALCNTNDSQNEDGGMVKEMESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDEESPLSVSSPEGTGTWLHYTSGVGTGRRRRRSGEQITSSPVSPKSLAFTSSIFGSWQQVVSENANYLRTPRTLVEQKQNPTVGSHCAGLFSTSVLGGSSSAPNLQDYARTHRKKLTSSGCIDDATRGSAVKRFSISFARHPTNEHLHLYRCWSVSSVEFLGSSGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK", "length": 1278, "header": "tr|A0A087WZV0-1|VIP2_HUMAN Computationally mapped isoform of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103201631, "end_pos": 103129590, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613674.4", "url": "https://www.ensembl.org/id/ENST00000613674.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482907.1", "url": "https://www.ensembl.org/id/ENSP00000482907.1" } ] } }, { "isoform_ac": "A0A8V8TMN4-1", "url": "", "sequence": { "sequence": "MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPMKEILERISLFKYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLAFKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSIPLEAEDIPIVPTTSGTMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSGKLKLKKPKQLQEVLDIARQLLMELGQNNDSEIEENKPKLEQLKTVLEMYGHFSGINRKVQLTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHSTYRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDSDSLSSCQQRVKARLHEILQKDRDFTAEDYEKLTPSGSISLIKSMHLIKNPVKTCDKVYSLIQSLTSQIRHRMEDPKSSDIQLYHSETLELMLRRWSKLEKDFKTKNGRYDISKIPDIYDCIKYDVQHNGSLKLENTMELYRLSKALADIVIPQEYGITKAEKLEIAKGYCTPLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTSESHVHSLLSILRYGALCNESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDVVSENANYLRTPRTLVEQKQNPTVGSHCAGLFSTSVLGGSSSAPNLQDYARTHRKKLTSSGCIDDATRGSAVKRFSISFARHPTNGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK", "length": 1185, "header": "tr|A0A8V8TMN4-1|A0A8V8TMN4_HUMAN Computationally mapped isoform of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103201631, "end_pos": 103129590, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698750.1", "url": "https://www.ensembl.org/id/ENST00000698750.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513912.1", "url": "https://www.ensembl.org/id/ENSP00000513912.1" } ] } }, { "isoform_ac": "D6RBU4-1", "url": "", "sequence": { "sequence": "MKGGNLDLNGLDHLTTARVTTAFVAGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLAFKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSIPLEAEDIPIVPTTSGTMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSGKLKLKKPKQLQEVLDIARQLLMELGQNNDSEIEENKPKLEQLKTVLEMYGHFSGINRKVQLTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEELGRAF", "length": 452, "header": "tr|D6RBU4-1|D6RBU4_HUMAN Computationally mapped isoform of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103158288, "end_pos": 103120413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507921.5", "url": "https://www.ensembl.org/id/ENST00000507921.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422525.1", "url": "https://www.ensembl.org/id/ENSP00000422525.1" } ] } }, { "isoform_ac": "D6RFG4-1", "url": "", "sequence": { "sequence": "MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSK", "length": 58, "header": "tr|D6RFG4-1|D6RFG4_HUMAN Computationally mapped isoform of Diphosphoinositol pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103133512, "end_pos": 103129590, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515845.5", "url": "https://www.ensembl.org/id/ENST00000515845.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421513.1", "url": "https://www.ensembl.org/id/ENSP00000421513.1" } ] } }, { "isoform_ac": "H0Y9M0-1", "url": "", "sequence": { "sequence": "KYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKGFLMFCNNNIFSSLKPMDSFLRVVFLNALNM", "length": 209, "header": "tr|H0Y9M0-1|VIP2_HUMAN Computationally mapped isoform of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103148244, "end_pos": 103133549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507310.1", "url": "https://www.ensembl.org/id/ENST00000507310.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000424535.1", "url": "https://www.ensembl.org/id/ENSP00000424535.1" } ] } }, { "isoform_ac": "H0Y9S9-1", "url": "", "sequence": { "sequence": "YDCIKYDVQHNGSLKLENTMELYRLSKALADIVIPQEYGITKAEKLEIAKGYCTPLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTSESHVHSLLSILRYGALCNESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDVVSENANYLRTPRTLVEQKQNPTVGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK", "length": 398, "header": "tr|H0Y9S9-1|H0Y9S9_HUMAN Computationally mapped isoform of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103201631, "end_pos": 103168188, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509597.5", "url": "https://www.ensembl.org/id/ENST00000509597.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424948.1", "url": "https://www.ensembl.org/id/ENSP00000424948.1" } ] } }, { "isoform_ac": "K7EJG8-1", "url": "", "sequence": { "sequence": "MKGGNLDLNGLDHLTTARVTTAFVADGVLLCCPGWSTMARSPLTATSTSWI", "length": 51, "header": "tr|K7EJG8-1|K7EJG8_HUMAN Computationally mapped isoform of Diphosphoinositol pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=4 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103136069, "end_pos": 103120413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504275.1", "url": "https://www.ensembl.org/id/ENST00000504275.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465165.1", "url": "https://www.ensembl.org/id/ENSP00000465165.1" } ] } }, { "isoform_ac": "K7ENU7-1", "url": "", "sequence": { "sequence": "XGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDVVSENANYLRTPRTLVEQKQNPTVGSHCAGLFSTSVLGGSSSAPNLQDYARTHRKKLTSSGCIDDATRGSAVKRFSISFARHPTNGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSG", "length": 255, "header": "tr|K7ENU7-1|K7ENU7_HUMAN Computationally mapped isoform of Diphosphoinositol pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=2 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103201533, "end_pos": 103177919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511022.2", "url": "https://www.ensembl.org/id/ENST00000511022.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000467099.2", "url": "https://www.ensembl.org/id/ENSP00000467099.2" } ] } }, { "isoform_ac": "K7EPT7-1", "url": "", "sequence": { "sequence": "MQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPF", "length": 58, "header": "tr|K7EPT7-1|VIP2_HUMAN Computationally mapped isoform of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=1 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103146591, "end_pos": 103136800, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502481.5", "url": "https://www.ensembl.org/id/ENST00000502481.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467529.1", "url": "https://www.ensembl.org/id/ENSP00000467529.1" } ] } }, { "isoform_ac": "O43314-1", "url": "", "sequence": { "sequence": "MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPMKEILERISLFKYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLAFKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSIPLEAEDIPIVPTTSGTMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSGKLKLKKPKQLQEVLDIARQLLMELGQNNDSEIEENKPKLEQLKTVLEMYGHFSGINRKVQLTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHSTYRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDSDSLSSCQQRVKARLHEILQKDRDFTAEDYEKLTPSGSISLIKSMHLIKNPVKTCDKVYSLIQSLTSQIRHRMEDPKSSDIQLYHSETLELMLRRWSKLEKDFKTKNGRYDISKIPDIYDCIKYDVQHNGSLKLENTMELYRLSKALADIVIPQEYGITKAEKLEIAKGYCTPLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTSESHVHSLLSILRYGALCNESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDEESPLSVSSPEGTGTWLHYTSGVGTGRRRRRSGEQITSSPVSPKSLAFTSSIFGSWQQVVSENANYLRTPRTLVEQKQNPTVGSHCAGLFSTSVLGGSSSAPNLQDYARTHRKKLTSSGCIDDATRGSAVKRFSISFARHPTNGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK", "length": 1243, "header": "sp|O43314-1|VIP2_HUMAN Isoform 1 of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=3 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103201631, "end_pos": 103129590, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358359.8", "url": "https://www.ensembl.org/id/ENST00000358359.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000351126.3", "url": "https://www.ensembl.org/id/ENSP00000351126.3" } ] } }, { "isoform_ac": "O43314-2", "url": "", "sequence": { "sequence": "MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPMKEILERISLFKYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLAFKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSIPLEAEDIPIVPTTSGTMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSGKLKLKKPKQLQEVLDIARQLLMELGQNNDSEIEENKPKLEQLKTVLEMYGHFSGINRKVQLTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHSTYRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDSDSLSSCQQRVKARLHEILQKDRDFTAEDYEKLTPSGSISLIKSMHLIKNPVKTCDKVYSLIQSLTSQIRHRMEDPKSSDIQLYHSETLELMLRRWSKLEKDFKTKNGRYDISKIPDIYDCIKYDVQHNGSLKLENTMELYRLSKALADIVIPQEYGITKAEKLEIAKGYCTPLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTSESHVHSLLSILRYGALCNESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDEESPLSVSSPEGTGTWLHYTSGVGTGRRRRRSGEQITSSPVSPKSLAFTSSIFGSWQQVVSENANYLRTPRTLVEQKQNPTVGSHCAGLFSTSVLGGSSSAPNLQDYARTHRKKLTSSGCIDGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK", "length": 1222, "header": "sp|O43314-2|VIP2_HUMAN Isoform 2 of Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 OS=Homo sapiens OX=9606 GN=PPIP5K2 PE=1 SV=3 CANONICAL=O43314-1" }, "locus": { "chromosome": "5", "start_pos": 103201631, "end_pos": 103129590, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414217.5", "url": "https://www.ensembl.org/id/ENST00000414217.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000416016.1", "url": "https://www.ensembl.org/id/ENSP00000416016.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1209, "start_aa": "Ser", "end_pos": 1209, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1209", "evidence": [ { "id": "O43314", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43314" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "O43314", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43314" } ] } ], "phosphorylation": [ { "start_pos": 1006, "end_pos": 1006, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43314", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43314" } ], "site_lbl": "Ser1006" }, { "start_pos": 1016, "end_pos": 1016, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43314", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43314" } ], "site_lbl": "Ser1016" }, { "start_pos": 1074, "end_pos": 1074, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" }, { "database": "PubMed", "id": "23186163", "url": 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Overlapping substrate specificities in a MutT-type protein.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Safrany ST, Ingram SW, Cartwright JL, Falck JR, McLennan AG, Barnes LD, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "10419486", "url": "https://glygen.org/publication/PubMed/10419486" } ] }, { "title": "Site-directed mutagenesis of diphosphoinositol polyphosphate phosphohydrolase, a dual specificity NUDT enzyme that attacks diadenosine polyphosphates and diphosphoinositol polyphosphates.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yang X, Safrany ST, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "10585413", "url": "https://glygen.org/publication/PubMed/10585413" } ] }, { "title": "Discovery of molecular and catalytic diversity among human diphosphoinositol-polyphosphate phosphohydrolases. An expanding Nudt family.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Caffrey JJ, Safrany ST, Yang X, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "10777568", "url": "https://glygen.org/publication/PubMed/10777568" } ] }, { "title": "The inositol hexakisphosphate kinase family. Catalytic flexibility and function in yeast vacuole biogenesis.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Saiardi A, Caffrey JJ, Snyder SH, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "10827188", "url": "https://glygen.org/publication/PubMed/10827188" } ] }, { "title": "Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase.", "journal": "The Biochemical journal", "date": "2000", "authors": "Yang X, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "11042108", "url": "https://glygen.org/publication/PubMed/11042108" } ] }, { "title": "Identification and characterization of a novel inositol hexakisphosphate kinase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Saiardi A, Nagata E, Luo HR, Snowman AM, Snyder SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "11502751", "url": "https://glygen.org/publication/PubMed/11502751" } ] }, { "title": "Regulation of Ins(3,4,5,6)P(4) signaling by a reversible kinase/phosphatase.", "journal": "Current biology : CB", "date": "2002", "authors": "Ho MW, Yang X, Carew MA, Zhang T, Hua L, Kwon YU, Chung SK, Adelt S, Vogel G, Riley AM, Potter BV, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "11909533", "url": "https://glygen.org/publication/PubMed/11909533" } ] }, { "title": "The synthesis of inositol hexakisphosphate. Characterization of human inositol 1,3,4,5,6-pentakisphosphate 2-kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Verbsky JW, Wilson MP, Kisseleva MV, Majerus PW, Wente SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "12084730", "url": "https://glygen.org/publication/PubMed/12084730" } ] }, { "title": "An adjacent pair of human NUDT genes on chromosome X are preferentially expressed in testis and encode two new isoforms of diphosphoinositol polyphosphate phosphohydrolase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hidaka K, Caffrey JJ, Hua L, Zhang T, Falck JR, Nickel GC, Carrel L, Barnes LD, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "12105228", "url": "https://glygen.org/publication/PubMed/12105228" } ] }, { "title": "Cloning and characterisation of hAps1 and hAps2, human diadenosine polyphosphate-metabolising Nudix hydrolases.", "journal": "BMC biochemistry", "date": "2002", "authors": "Leslie NR, McLennan AG, Safrany ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "12121577", "url": "https://glygen.org/publication/PubMed/12121577" } ] }, { "title": "A conserved family of enzymes that phosphorylate inositol hexakisphosphate.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Mulugu S, Bai W, Fridy PC, Bastidas RJ, Otto JC, Dollins DE, Haystead TA, Ribeiro AA, York JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "17412958", "url": 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"O43314", "url": "https://www.uniprot.org/uniprot/O43314" }, { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "17702752", "url": "https://glygen.org/publication/PubMed/17702752" } ] }, { "title": "Intracellular localization of human Ins(1,3,4,5,6)P5 2-kinase.", "journal": "The Biochemical journal", "date": "2007", "authors": "Brehm MA, Schenk TM, Zhou X, Fanick W, Lin H, Windhorst S, Nalaskowski MM, Kobras M, Shears SB, Mayr GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "17705785", "url": "https://glygen.org/publication/PubMed/17705785" } ] }, { "title": "Inositol hexakisphosphate kinase products contain diphosphate and triphosphate groups.", "journal": "Chemistry & biology", "date": "2008", "authors": "Draskovic P, Saiardi A, Bhandari R, Burton A, Ilc G, Kovacevic M, Snyder SH, Podobnik M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "18355727", "url": "https://glygen.org/publication/PubMed/18355727" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" }, { "database": "iPTMnet", "id": "O43314", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43314" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Structural analysis and detection of biological inositol pyrophosphates reveal that the family of VIP/diphosphoinositol pentakisphosphate kinases are 1/3-kinases.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Lin H, Fridy PC, Ribeiro AA, Choi JH, Barma DK, Vogel G, Falck JR, Shears SB, York JD, Mayr GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "18981179", "url": "https://glygen.org/publication/PubMed/18981179" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" }, { "database": "iPTMnet", "id": "O43314", "url": 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"https://glygen.org/publication/PubMed/30956131" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43314", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43314" }, { "database": "O-GlcNAc Atlas", "id": "O43314", "url": "https://oglcnac.org/atlas/detail/O43314" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.", "journal": "Scientific reports", "date": "2019", "authors": "Khaled ML, Bykhovskaya Y, Gu C, Liu A, Drewry MD, Chen Z, Mysona BA, Parker E, McNabb RP, Yu H, Lu X, Wang J, Li X, Al-Muammar A, Rotter JI, Porter LF, Estes A, Watsky MA, Smith SB, Xu H, Abu-Amero KK, Kuo A, Shears SB, Rabinowitz YS, Liu Y", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" } ], "reference": [ { "type": "PubMed", "id": "31852976", "url": "https://glygen.org/publication/PubMed/31852976" } ] }, { "title": "PPIP5K2 promotes colorectal carcinoma pathogenesis through facilitating DNA homologous recombination repair.", "journal": "Oncogene", "date": "2021", "authors": "Cao CH, Ling H, Han K, Lu XP, Cai MY, Cao JH, Zhou J, Xiang ZC, Chen JW, Li S, Lin JL, Duan JL, Luo J, Fang YJ, Pan ZZ, Liang L, Wang F, Xie D, Wang FW", "evidence": [ { "database": "RefSeq", "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206" } ], "reference": [ { "type": "PubMed", "id": "34645979", "url": "https://glygen.org/publication/PubMed/34645979" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43314", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43314" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "A novel context for the 'MutT' module, a guardian of cell integrity, in a diphosphoinositol polyphosphate phosphohydrolase.", "journal": "The EMBO journal", "date": "1998", "authors": "Safrany ST, Caffrey JJ, Yang X, Bembenek ME, Moyer MB, Burkhart WA, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855167", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855167" } ], "reference": [ { "type": "PubMed", "id": "9822604", "url": "https://glygen.org/publication/PubMed/9822604" } ] } ], "pathway": 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"length": 1129 }, "evidence": [ { "id": "45931003", "url": "http://www.informatics.jax.org/homology/45931003", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "inositol-1,3,4,5,6-pentakisphosphate kinase activity", "id": "GO:0000827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000827", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol heptakisphosphate kinase activity", "id": "GO:0000829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000829", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol hexakisphosphate 5-kinase activity", "id": "GO:0000832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000832", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol hexakisphosphate 1-kinase activity", "id": "GO:0052723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052723", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol hexakisphosphate 3-kinase activity", "id": "GO:0052724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052724", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "diphosphoinositol-pentakisphosphate kinase activity", "id": "GO:0033857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033857", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol hexakisphosphate kinase activity", "id": "GO:0000828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000828", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol metabolic process", "id": "GO:0006020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006020", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol phosphate metabolic process", "id": "GO:0043647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043647", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" }, { "name": "inositol phosphate biosynthetic process", "id": "GO:0032958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032958", "evidence": [ { "database": "UniProtKB", "id": "O43314", "url": "https://www.uniprot.org/uniprot/O43314" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1218, "end_pos": 1220, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1225, "end_pos": 1227, "annotation": "n_glycosylation_sequon" }, { "start_pos": 448, "end_pos": 450, "annotation": "n_glycosylation_sequon" }, { "start_pos": 737, "end_pos": 739, "annotation": "n_glycosylation_sequon" }, { "start_pos": 843, "end_pos": 845, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "10276", "name": "", "equation": "5-diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate + ATP + H(+) = 1,5-bis(diphospho)-1D-myo-inositol 2,3,4,6-tetrakisphosphate + ADP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P0C644-1", "A0A8I5XWD7-1", "Q6PFW1-1", "O43314-1", "A2ARP1-1", "Q6ZQB6-1", "Q06685-1", "Q54PE2-1", "Q9VR59-1" ], "evidence": [ { "id": "10276", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10276" } ] }, { "id": "37459", "name": "", "equation": "1D-myo-inositol hexakisphosphate + ATP = 1-diphospho-1D-myo-inositol 2,3,4,5,6-pentakisphosphate + ADP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P0C644-1", "A0A8I5XWD7-1", "Q6PFW1-1", "O43314-1", "Q6ZQB6-1", "A2ARP1-1", "Q06685-1", "Q54PE2-1", "Q9VR59-1" ], "evidence": [ { "id": "37459", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/37459" } ] }, { "id": "R-HSA-1855182", "name": "5-PP-IP5 is phosphorylated to 1,5-(PP)2-IP4 by PPIP5K1/2 in the cytosol", "equation": "", "summary": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1/2 (PPIP5K1) and 2 (PPIP5K2) phosphorylate inositol 5-diphospho-1,2,3,4,6-pentakisphosphate (5-PP-IP5) to inositol 1,5-bisdiphospho-2,3,4,6-tetrakisphosphate (1,5-(PP)2-IP4) (Fridy et al. 2007, Mulugu et al. 2007, Choi et al. 2007, Lin et al. 2009).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-1629732" ], "enzyme_list": [ "O43314-1", "Q6PFW1-1" ], "evidence": [ { "id": "R-HSA-1855182", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855182" } ] }, { "id": "R-HSA-1855216", "name": "IP6 is phosphorylated to 1-PP-IP5 by PPIP5K1/2 in the cytosol", "equation": "", "summary": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1/2 (PPIP5K1) and 2 (PPIP5K2) phosphorylate inositol 1,2,3,4,5,6-hexakisphosphate (IP6) to inositol 1-diphospho-2,3,4,5,6-pentakisphosphate (1-PP-IP5)) (Fridy et al. 2007, Mulugu et al. 2007, Choi et al. 2007, Lin et al. 2009; Wang et al. 2011).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-1629740" ], "enzyme_list": [ "O43314-1", "Q6PFW1-1" ], "evidence": [ { "id": "R-HSA-1855216", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855216" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1629732", "participant_name": "1,5-(PP)2-IP4 [cytosol]", "crossref": [ { "id": "77983", "database": "ChEBI", "url": "" }, { "id": "000096085264", "database": "ZINC", "url": "" }, { "id": "77983", "database": "ChEBI", "url": "" }, { "id": "000096085264", "database": "ZINC", "url": "" }, { "id": "77983", "database": "ChEBI", "url": "" }, { "id": "000096085264", "database": "ZINC", "url": "" }, { "id": "77983", "database": "ChEBI", "url": "" }, { "id": "000096085264", "database": "ZINC", "url": "" }, { "id": "77983", "database": "ChEBI", "url": "" }, { "id": "000096085264", "database": "ZINC", "url": "" }, { "id": "77983", "database": "ChEBI", "url": "" }, { "id": "000096085264", "database": "ZINC", "url": "" }, { "id": "77983", "database": "ChEBI", "url": "" }, { "id": "000096085264", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-1629740", "participant_name": "1-PP-IP5 [cytosol]", "crossref": [ { "id": "74946", "database": "ChEBI", "url": "" }, { "id": "000095630287", "database": "ZINC", "url": "" }, { "id": "000095630287", "database": "ZINC", "url": "" }, { "id": "74946", "database": "ChEBI", "url": "" }, { "id": "74946", "database": "ChEBI", "url": "" }, { "id": "000095630287", "database": "ZINC", "url": "" }, { "id": "74946", "database": "ChEBI", "url": "" }, { "id": "000095630287", "database": "ZINC", "url": "" }, { "id": "74946", "database": "ChEBI", "url": "" }, { "id": "000095630287", "database": "ZINC", "url": "" }, { "id": "74946", "database": "ChEBI", "url": "" }, { "id": "000095630287", "database": "ZINC", "url": "" }, { "id": "74946", "database": "ChEBI", "url": "" }, { "id": "000095630287", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I5XWD7", "gene_name": "Ppip5k2", "activity": [ { "ec_number": "2.7.4.24", "activity": "1D-myo-inositol hexakisphosphate + ATP = 1-diphospho-1D-myo-inositol 2,3,4,5,6-pentakisphosphate + ADP.", "evidence": [ { "id": "A0A8I5XWD7", "database": "UniProtKB", "url": 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