{ "uniprot_canonical_ac": "O60256-1", "uniprot_ac": "O60256", "uniprot_id": "KPRB_HUMAN", "mass": { "chemical_mass": 40926.0, "monoisotopic_mass": 40926.0 }, "refseq": { "ac": "NP_001230865", "name": "phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 2", "summary": "This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230865" }, "gene_names": [ { "name": "PRPSAP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60256", "id": "O60256" }, { "name": "PAP41", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230865", "id": "NP_001230865" }, { "name": "PRPSAP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230865", "id": "NP_001230865" } ], "protein_names": [ { "name": "Phosphoribosyl pyrophosphate synthase-associated protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60256" }, { "name": "41 kDa phosphoribosypyrophosphate synthetase-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60256" }, { "name": "PAP41", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60256" }, { "name": "PRPP synthase-associated protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60256" }, { "name": "phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230865", "id": "NP_001230865" }, { "name": "phosphoribosyl pyrophosphate synthase-associated protein 2; PRPP synthase-associated protein 2; 41 kDa phosphoribosypyrophosphate synthetase-associated protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230865", "id": "NP_001230865" } ], "function": [ { "annotation": "Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.", "evidence": [ { "database": "UniProtKB", "id": "E7EW35", "url": "https://www.uniprot.org/uniprot/E7EW35#function" }, { "database": "UniProtKB", "id": "ARBA00037514", "url": "https://www.uniprot.org/uniprot/ARBA00037514#function" }, { "database": "UniProtKB", "id": "I3L0S1", "url": "https://www.uniprot.org/uniprot/I3L0S1#function" }, { "database": "UniProtKB", "id": "C9JDH0", "url": "https://www.uniprot.org/uniprot/C9JDH0#function" }, { "database": "UniProtKB", "id": "C9JDU5", "url": "https://www.uniprot.org/uniprot/C9JDU5#function" }, { "database": "UniProtKB", "id": "C9JJS3", "url": "https://www.uniprot.org/uniprot/C9JJS3#function" }, { "database": "UniProtKB", "id": "I3L164", "url": "https://www.uniprot.org/uniprot/I3L164#function" }, { "database": "UniProtKB", "id": "I3L331", "url": "https://www.uniprot.org/uniprot/I3L331#function" }, { "database": "UniProtKB", "id": "E7EPA1", "url": "https://www.uniprot.org/uniprot/E7EPA1#function" }, { "database": "UniProtKB", "id": "C9K0K7", "url": "https://www.uniprot.org/uniprot/C9K0K7#function" }, { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256#function" }, { "database": "UniProtKB", "id": "I3L4G9", "url": "https://www.uniprot.org/uniprot/I3L4G9#function" } ] }, { "annotation": "This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001230865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230865" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141127" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60256", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60256" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"O60256-2", "url": "https://www.uniprot.org/uniprot/O60256-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60256-3", "url": "https://www.uniprot.org/uniprot/O60256-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60256-4", "url": "https://www.uniprot.org/uniprot/O60256-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHGLLSSDAPRRIEESAIDEVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSYLFRNIGLDD", "length": 369, "header": "sp|O60256-1|KPRB_HUMAN Isoform 1 of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "isoforms": [ { "isoform_ac": "C9JDH0-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLT", "length": 140, "header": "tr|C9JDH0-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18882575, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441887.5", "url": "https://www.ensembl.org/id/ENST00000441887.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395127.1", "url": "https://www.ensembl.org/id/ENSP00000395127.1" } ] } }, { "isoform_ac": "C9JDU5-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEE", "length": 176, "header": "tr|C9JDU5-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18882683, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419284.6", "url": "https://www.ensembl.org/id/ENST00000419284.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000415446.2", "url": "https://www.ensembl.org/id/ENSP00000415446.2" } ] } }, { "isoform_ac": "C9JJS3-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAK", "length": 194, "header": "tr|C9JJS3-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18889875, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414602.5", "url": "https://www.ensembl.org/id/ENST00000414602.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000416964.1", "url": "https://www.ensembl.org/id/ENSP00000416964.1" } ] } }, { "isoform_ac": "C9K0K7-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIP", "length": 244, "header": "tr|C9K0K7-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18911250, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422237.5", "url": "https://www.ensembl.org/id/ENST00000422237.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401144.1", "url": "https://www.ensembl.org/id/ENSP00000401144.1" } ] } }, { "isoform_ac": "E7EPA1-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIV", "length": 268, "header": "tr|E7EPA1-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18923984, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412418.5", "url": "https://www.ensembl.org/id/ENST00000412418.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402612.1", "url": "https://www.ensembl.org/id/ENSP00000402612.1" } ] } }, { "isoform_ac": "E7EW35-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKADPRLQECSNRGQVSSLGEEGTVFC", "length": 161, "header": "tr|E7EW35-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18911117, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455992.6", "url": "https://www.ensembl.org/id/ENST00000455992.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000416021.2", "url": "https://www.ensembl.org/id/ENSP00000416021.2" } ] } }, { "isoform_ac": "I3L0S1-1", "url": "", "sequence": { "sequence": "XDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPTWSAVVQSWHTATSASQVQAILLGSWDYRYMPPCPVLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHGLLSSDAPRRIEESAIDEVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSYLFRNIGLDD", "length": 260, "header": "tr|I3L0S1-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18930696, "end_pos": 18882589, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574451.5", "url": "https://www.ensembl.org/id/ENST00000574451.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458301.1", "url": "https://www.ensembl.org/id/ENSP00000458301.1" } ] } }, { "isoform_ac": "I3L164-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSI", "length": 104, "header": "tr|I3L164-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18877770, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000576355.5", "url": "https://www.ensembl.org/id/ENST00000576355.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458600.1", "url": "https://www.ensembl.org/id/ENSP00000458600.1" } ] } }, { "isoform_ac": "I3L1T1-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIADFFPLSLL", "length": 47, "header": "tr|I3L1T1-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18867278, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000573253.5", "url": "https://www.ensembl.org/id/ENST00000573253.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000459077.1", "url": "https://www.ensembl.org/id/ENSP00000459077.1" } ] } }, { "isoform_ac": "I3L275-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVL", "length": 22, "header": "tr|I3L275-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18865899, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000575102.5", "url": "https://www.ensembl.org/id/ENST00000575102.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000459441.1", "url": "https://www.ensembl.org/id/ENSP00000459441.1" } ] } }, { "isoform_ac": "I3L2J4-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAENKSTNSRVCEGKRCFHHPNCFEGREHHHHGAPDHGVCM", "length": 78, "header": "tr|I3L2J4-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18877745, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492129.5", "url": "https://www.ensembl.org/id/ENST00000492129.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000459727.1", "url": "https://www.ensembl.org/id/ENSP00000459727.1" } ] } }, { "isoform_ac": "I3L331-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMV", "length": 93, "header": "tr|I3L331-1|KPRB_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18877737, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574522.5", "url": "https://www.ensembl.org/id/ENST00000574522.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460138.1", "url": "https://www.ensembl.org/id/ENSP00000460138.1" } ] } }, { "isoform_ac": "I3L3B8-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAENKSTNSRVCEGKRCFHH", "length": 57, "header": "tr|I3L3B8-1|I3L3B8_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthetase associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18872634, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000575228.5", "url": "https://www.ensembl.org/id/ENST00000575228.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460324.1", "url": "https://www.ensembl.org/id/ENSP00000460324.1" } ] } }, { "isoform_ac": "I3L4G9-1", "url": "", "sequence": { "sequence": "XEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHGLLSSDAPRRIEESAIDEICLFWTFHINEIIQCVVFCVWLSSLNIIFSRFIHVGA", "length": 143, "header": "tr|I3L4G9-1|I3L4G9_HUMAN Computationally mapped isoform of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18929679, "end_pos": 18911154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460724.1", "url": "https://www.ensembl.org/id/ENST00000460724.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461241.1", "url": "https://www.ensembl.org/id/ENSP00000461241.1" } ] } }, { "isoform_ac": "O60256-1", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHGLLSSDAPRRIEESAIDEVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSYLFRNIGLDD", "length": 369, "header": "sp|O60256-1|KPRB_HUMAN Isoform 1 of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18930695, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000268835.7", "url": "https://www.ensembl.org/id/ENST00000268835.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000268835.2", "url": "https://www.ensembl.org/id/ENSP00000268835.2" } ] } }, { "isoform_ac": "O60256-2", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAEDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHGLLSSDAPRRIEESAIDEVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSYLFRNIGLDD", "length": 329, "header": "sp|O60256-2|KPRB_HUMAN Isoform 2 of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18930695, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419071.6", "url": "https://www.ensembl.org/id/ENST00000419071.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000392536.2", "url": "https://www.ensembl.org/id/ENSP00000392536.2" } ] } }, { "isoform_ac": "O60256-3", "url": "", "sequence": { "sequence": "MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIVVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSYLFRNIGLDD", "length": 320, "header": "sp|O60256-3|KPRB_HUMAN Isoform 3 of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18930695, "end_pos": 18865834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542013.5", "url": "https://www.ensembl.org/id/ENST00000542013.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439129.1", "url": "https://www.ensembl.org/id/ENSP00000439129.1" } ] } }, { "isoform_ac": "O60256-4", "url": "", "sequence": { "sequence": "MELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHGLLSSDAPRRIEESAIDEVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSYLFRNIGLDD", "length": 283, "header": "sp|O60256-4|KPRB_HUMAN Isoform 4 of Phosphoribosyl pyrophosphate synthase-associated protein 2 OS=Homo sapiens OX=9606 GN=PRPSAP2 PE=1 SV=1 CANONICAL=O60256-1" }, "locus": { "chromosome": "17", "start_pos": 18930695, "end_pos": 18877717, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536323.5", "url": "https://www.ensembl.org/id/ENST00000536323.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443967.1", "url": "https://www.ensembl.org/id/ENSP00000443967.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60256", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60256" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" } ] } ], "phosphorylation": [ { "start_pos": 219, "end_pos": 219, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser219" }, { "start_pos": 227, "end_pos": 227, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" }, { "database": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" }, { "database": "phospho.ELM", "id": "O60256", "url": "http://phospho.elm.eu.org/byAccession/O60256.html" } ], "site_lbl": "Ser227" }, { "start_pos": 233, "end_pos": 233, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" } ], "site_lbl": "Ser233" }, { "start_pos": 338, "end_pos": 338, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr338" }, { "start_pos": 5, "end_pos": 5, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" } ], "site_lbl": "Thr5" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Phosphoproteomic analysis of human brain by calcium phosphate precipitation and mass spectrometry.", "journal": "Journal of proteome research", "date": "2008", "authors": "Xia Q, Cheng D, Duong DM, Gearing M, Lah JJ, Levey AI, Peng J", "evidence": [ { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ] }, { "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": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "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": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "O60256-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256-1" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "O60256", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60256" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" }, { "database": "iPTMnet", "id": "O60256", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60256" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60256", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60256" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Molecular cloning of a human cDNA for the 41-kDa phosphoribosylpyrophosphate synthetase-associated protein.", "journal": "Biochim. Biophys. Acta", "date": "1998", "authors": "Katashima R, Iwahana H, Fujimura M, Yamaoka T, Ishizuka T, Tatibana M, Itakura M", "evidence": [ { "database": "UniProtKB", "id": "O60256", "url": "https://www.uniprot.org/uniprot/O60256" } ], "reference": [ { "type": "PubMed", "id": "9545573", "url": "https://glygen.org/publication/PubMed/9545573" } ] } ], "pathway": [ { "id": "hsa:5636", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5636", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O08618-1", "protein_name": "Phosphoribosyl pyrophosphate synthase-associated protein 2", "gene_name": "Prpsap2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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[] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }