{ "uniprot_canonical_ac": "A0A0G2JSV3-1", "uniprot_ac": "A0A0G2JSV3", "uniprot_id": "A0A0G2JSV3_RAT", "mass": { "chemical_mass": 34806.0, "monoisotopic_mass": 34806.0 }, "refseq": { "ac": "NP_001009694", "name": "ribose-phosphate pyrophosphokinase 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694" }, "gene_names": [ { "name": "LOC314140", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3" }, { "name": "LOC314140", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694", "id": "NP_001009694" } ], "protein_names": [ { "name": "Ribose-phosphate diphosphokinase", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#names_and_taxonomy", "id": "A0A0G2JSV3" }, { "name": "2.7.6.1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#names_and_taxonomy", "id": "A0A0G2JSV3" }, { "name": "ribose-phosphate pyrophosphokinase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694", "id": "NP_001009694" } ], "function": [ { "annotation": "Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#function" }, { "database": "PubMed", "id": "ARBA00003018", "url": "https://glygen.org/publication/PubMed/ARBA00003018" } ] } ], "disease": [ { "disease_id": "DOID:0050647", "recommended_name": { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "Arts syndrome", "description": "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene." }, "synonyms": [ { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "fatal X-linked ataxia with deafness and loss of vision", "description": "" }, { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "ARTS", "description": "" }, { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "Lethal ataxia with deafness and optic atrophy", "description": "" }, { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "MRXS18", "description": "" }, { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "MRXSARTS", "description": "" }, { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "syndromic X-linked mental retardation 18", "description": "" }, { "id": "DOID:0050647", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050647", "name": "syndromic X-linked mental retardation Arts type", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "Arts syndrome", "description": "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "mental retardation, X-linked, syndromic 18", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "ataxia, fatal X-linked, with deafness and loss of vision", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "mental retardation, X-linked, syndromic, Arts type", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "MRXSARTS", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "fatal X-linked ataxia with deafness and loss of vision", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "Arts syndrome", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "Arts syndrome; Arts", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "syndromic X-linked mental retardation 18", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "Arts", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "X-linked fatal ataxia with deafness and loss of vision", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "MRXS18", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "syndromic X-linked mental retardation Arts type", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "lethal ataxia with deafness and optic atrophy", "description": "" }, { "id": "MONDO:0010533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010533", "name": "lethal ataxia-deafness-optic atrophy", "description": "" }, { "id": "MIM:301835", "resource": "MIM", "url": "https://www.omim.org/entry/301835", "name": "ARTS syndrome", "description": "ARTS syndrome" } ], "evidence": [ { "id": "0050647", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050647" } ] }, { "disease_id": "DOID:0110210", "recommended_name": { "id": "DOID:0110210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110210", "name": "Charcot-Marie-Tooth disease X-linked recessive 5", "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22." }, "synonyms": [ { "id": "DOID:0110210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110210", "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5", "description": "" }, { "id": "DOID:0110210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110210", "name": "CMT5X", "description": "" }, { "id": "DOID:0110210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110210", "name": "CMTX5", "description": "" }, { "id": "DOID:0110210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110210", "name": "Rosenberg-Chutorian syndrome", "description": "" }, { "id": "DOID:0110210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110210", "name": "X-linked Charcot-Marie-Tooth disease type 5", "description": "" }, { "id": "DOID:0110210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110210", "name": "optic atrophy, polyneuropathy, and deafness", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth disease X-linked recessive 5", "description": "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "CMT5X", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth disease, X-linked recessive, type 5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "optic atrophy, polyneuropathy, and deafness", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "optic atrophy, sensorineural hearing loss and polyneuropathy", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth disease X-linked recessive type 5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "X-linked Charcot-Marie-Tooth disease type 5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth neuropathy X type 5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "CMTX5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "familial opticoacoustic nerve degeneration and polyneuropathy", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Rosenberg-Chutorian syndrome", "description": "" }, { "id": "MONDO:0010699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010699", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5; CMTX5", "description": "" }, { "id": "MIM:311070", "resource": "MIM", "url": "https://www.omim.org/entry/311070", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5", "description": "Charcot-Marie-Tooth disease, X-linked recessive, 5" } ], "evidence": [ { "id": "0110210", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110210" } ] }, { "disease_id": "DOID:0111260", "recommended_name": { "id": "DOID:0111260", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111260", "name": "phosphoribosylpyrophosphate synthetase superactivity", "description": "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset." }, "synonyms": [ { "id": "DOID:0111260", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111260", "name": "PRPP synthetase superactivity", "description": "" }, { "id": "DOID:0111260", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111260", "name": "PRPS1 superactivity", "description": "" }, { "id": "MONDO:0010395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010395", "name": "phosphoribosylpyrophosphate synthetase superactivity", "description": "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms)." }, { "id": "MONDO:0010395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010395", "name": "PRPS1 superactivity", "description": "" }, { "id": "MONDO:0010395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010395", "name": "gout, PRPS-related", "description": "" }, { "id": "MONDO:0010395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010395", "name": "PRPP synthetase superactivity", "description": "" }, { "id": "MONDO:0010395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010395", "name": "phosphoribosylpyrophosphate synthetase superactivity", "description": "" }, { "id": "MIM:300661", "resource": "MIM", "url": "https://www.omim.org/entry/300661", "name": "Phosphoribosylpyrophosphate synthetase superactivity", "description": "Phosphoribosylpyrophosphate synthetase superactivity" } ], "evidence": [ { "id": "0111260", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111260" } ] }, { "disease_id": "DOID:0111739", "recommended_name": { "id": "DOID:0111739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111739", "name": "X-linked deafness 1", "description": "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3." }, "synonyms": [ { "id": "DOID:0111739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111739", "name": "DFN2", "description": "" }, { "id": "DOID:0111739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111739", "name": "DFNX1", "description": "" }, { "id": "DOID:0111739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111739", "name": "X-linked sensorineural congenital deafness 2", "description": "" }, { "id": "MONDO:0010577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010577", "name": "deafness, X-linked 1", "description": "" }, { "id": "MONDO:0010577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010577", "name": "deafness, X-linked 2, sensorineural congenital", "description": "" }, { "id": "MONDO:0010577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010577", "name": "deafness, X-linked type 1", "description": "" }, { "id": "MONDO:0010577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010577", "name": "deafness, X-linked 1; DFNX1", "description": "" }, { "id": "MONDO:0010577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010577", "name": "deafness, X-linked 1", "description": "" }, { "id": "MONDO:0010577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010577", "name": "DFNX1", "description": "" }, { "id": "MIM:304500", "resource": "MIM", "url": "https://www.omim.org/entry/304500", "name": "Deafness, X-linked, 1", "description": "Deafness, X-linked, 1" } ], "evidence": [ { "id": "0111739", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111739" } ] }, { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ], "evidence": [ { "id": "10584", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ] }, { "disease_id": "DOID:13189", "recommended_name": { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint." }, "synonyms": [ { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "Articular gout", "description": "" }, { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "Gouty arthropathy", "description": "" }, { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "gouty arthritis", "description": "" } ], "evidence": [ { "id": "13189", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "common_name": "Rat" } ], "gene": [ { "name": "LOC314140", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "locus": { "chromosome": "6", "start_pos": 78172762, "end_pos": 78180924, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000056011", "url": "https://www.ensembl.org/id/ENSRNOG00000056011" } ] } } ], "crossref": [ { "id": "ENSRNOG00000056011", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000056011", "database": "Bgee" }, { "id": "cd06223", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06223", "database": "CDD" }, { "id": "314140", "url": "https://www.ncbi.nlm.nih.gov/gene/314140", "database": "GeneID" }, { "id": "IPR000836", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000836", "database": "InterPro" }, { "id": "IPR000842", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000842", "database": "InterPro" }, { "id": "IPR005946", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005946", "database": "InterPro" }, { "id": "IPR029057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029057", "database": "InterPro" }, { "id": "IPR029099", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029099", "database": "InterPro" }, { "id": "IPR037515", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037515", "database": "InterPro" }, { "id": "rno:314140", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:314140", "database": "KEGG Pathway" }, { "id": "LLMGTHT", "url": "https://omabrowser.org/oma/group/LLMGTHT/", "database": "OMA" }, { "id": "PTHR10210", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10210", "database": "PANTHER" }, { "id": "PF13793", "url": "http://pfam.xfam.org/family/PF13793", "database": "Pfam" }, { "id": "PF14572", "url": "http://pfam.xfam.org/family/PF14572", "database": "Pfam" }, { "id": "R-RNO-73843", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73843", "database": "Reactome" }, { "id": "NP_001009694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694", "database": "RefSeq" }, { "id": "1359636", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1359636", "database": "RGD" }, { "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "database": "UniProtKB" }, { "id": "A0A0G2JSV3-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWKNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL", "length": 318, "header": "tr|A0A0G2JSV3-1|A0A0G2JSV3_RAT Isoform 1 of Ribose-phosphate diphosphokinase OS=Rattus norvegicus OX=10116 GN=LOC314140 PE=1 SV=1 CANONICAL=A0A0G2JSV3-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JSV3-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#A0A0G2JSV3-1", "sequence": { "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWKNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL", "length": 318, "header": "tr|A0A0G2JSV3-1|A0A0G2JSV3_RAT Isoform 1 of Ribose-phosphate diphosphokinase OS=Rattus norvegicus OX=10116 GN=LOC314140 PE=1 SV=1 CANONICAL=A0A0G2JSV3-1" }, "locus": { "chromosome": "6", "start_pos": 74763117, "end_pos": 74762164, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000083110.2", "url": "https://www.ensembl.org/id/ENSRNOT00000083110.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000069706.1", "url": "https://www.ensembl.org/id/ENSRNOP00000069706.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.", "journal": "Briefings in bioinformatics", "date": "2011", "authors": "Gaudet P, Livstone MS, Lewis SE, Thomas PD", "evidence": [ { "database": "RefSeq", "id": "NP_001009694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694" } ], "reference": [ { "type": "PubMed", "id": "21873635", "url": "https://glygen.org/publication/PubMed/21873635" } ] } ], "pathway": [ { "id": "rno:314140", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:314140", "resource": "KEGG Pathway" }, { "id": "R-RNO-73843", "name": "5-Phosphoribose 1-diphosphate biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73843", "resource": "Reactome", "description": "5-Phosphoribose 1-diphosphate biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "G3UXL2-1", "protein_name": "Ribose-phosphate diphosphokinase", "gene_name": "Prps1l3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL", "length": 318 }, "evidence": [ { "id": "41487457", "url": "http://www.informatics.jax.org/homology/41487457", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P60891-1", "protein_name": "Ribose-phosphate pyrophosphokinase 1", "gene_name": "PRPS1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL", "length": 318 }, "evidence": [ { "id": "41487458", "url": "http://www.informatics.jax.org/homology/41487458", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P60892-1", "protein_name": "Ribose-phosphate pyrophosphokinase 1", "gene_name": "Prps1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL", "length": 318 }, "evidence": [ { "id": "41487458", "url": "http://www.informatics.jax.org/homology/41487458", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9D7G0-1", "protein_name": "Ribose-phosphate pyrophosphokinase 1", "gene_name": "Prps1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL", "length": 318 }, "evidence": [ { "id": "41487458", "url": "http://www.informatics.jax.org/homology/41487458", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "ribose phosphate diphosphokinase complex", "id": "GO:0002189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002189", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "21873635" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "21873635" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "21873635" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "" }, { "name": "ribose phosphate diphosphokinase activity", "id": "GO:0004749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004749", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "21873635" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "" }, { "name": "ribonucleoside monophosphate biosynthetic process", "id": "GO:0009156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009156", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "" }, { "name": "5-phosphoribose 1-diphosphate biosynthetic process", "id": "GO:0006015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006015", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "21873635" }, { "name": "purine nucleotide biosynthetic process", "id": "GO:0006164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006164", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JSV3", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ], "pmid": "21873635" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 158, "end_pos": 160, "annotation": "n_glycosylation_sequon" }, { "start_pos": 164, "end_pos": 166, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-RNO-73580", "name": "D-ribose 5-phosphate + ATP => 5-phospho-alpha-D-ribose 1-diphosphate (PRPP) + adenosine 5'-monophosphate", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09330-1", "P60892-1", "A0A0G2JSV3-1" ], "evidence": [ { "id": "R-RNO-73580", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73580" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A0G2JSV3", "gene_name": "LOC314140", "activity": [ { "ec_number": "2.7.6.1", "activity": "ATP + D-ribose 5-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + H(+).", "evidence": [ { "id": "A0A0G2JSV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ] }, { "ec_number": "2.7.6.1", "activity": "", "evidence": [ { "id": "A0A0G2JSV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3" } ] } ] }, { "uniprot_ac": "P09330", "gene_name": "Prps2", "activity": [ { "ec_number": "2.7.6.1", "activity": "ATP + D-ribose 5-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + H(+).", "evidence": [ { "id": "P09330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09330" } ] }, { "ec_number": "2.7.6.1", "activity": "", "evidence": [ { "id": "P09330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09330" } ] } ] }, { "uniprot_ac": "P60892", "gene_name": "Prps1", "activity": [ { "ec_number": "2.7.6.1", "activity": "ATP + D-ribose 5-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + H(+).", "evidence": [ { "id": "P60892", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60892" } ] }, { "ec_number": "2.7.6.1", "activity": "", "evidence": [ { "id": "P60892", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60892" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ] }