{ "uniprot_canonical_ac": "A0A0G2JSV3-1", "ptm_annotation": [], "sequence": { "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", "length": 318, "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWKNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL" }, "uniprot_id": "A0A0G2JSV3_RAT", "enzyme_annotation": [ { "ec": "2.7.6.1", "activity": "" }, { "ec": "2.7.6.1", "activity": "ATP + D-ribose 5-phosphate = AMP + 5-phospho-alpha-D-ribose 1-diphosphate." } ], "glycation": [], "keywords": [ "enzyme" ], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004749", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "ribose phosphate diphosphokinase activity", "id": "GO:0004749" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "magnesium ion binding", "id": "GO:0000287" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "kinase activity", "id": "GO:0016301" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002189", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "ribose phosphate diphosphokinase complex", "id": "GO:0002189" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006015", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "5-phosphoribose 1-diphosphate biosynthetic process", "id": "GO:0006015" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006164", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "purine nucleotide biosynthetic process", "id": "GO:0006164" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009165", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "nucleotide biosynthetic process", "id": "GO:0009165" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009156", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "ribonucleoside monophosphate biosynthetic process", "id": "GO:0009156" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009116", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" } ], "name": "nucleoside metabolic process", "id": "GO:0009116" } ], "total": 5, "name": "Biological Process" } ] }, "publication": [], "uniprot_ac": "A0A0G2JSV3", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "type": "recommended", "resource": "UniProtKB", "name": "LOC314140" } ], "reactions": [ { "source": "Reactome", "output_participant_list": [], "name": "D-ribose 5-phosphate + ATP => 5-phospho-alpha-D-ribose 1-diphosphate (PRPP) + adenosine 5'-monophosphate", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73580", "cellular_location": "plasma membrane", "input_participant_list": [], "enzyme_list": [ "P09330-1", "P60892-1", "A0A0G2JSV3-1", "M0RBK1-1" ], "id": "R-RNO-73580", "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" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#A0A0G2JSV3-1", "isoform_ac": "A0A0G2JSV3-1", "locus": { "end_pos": 78179595, "strand": "-", "start_pos": 78180548, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000083110", "id": "ENSRNOT00000083110", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000069706", "id": "ENSRNOP00000069706", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 318, "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWKNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:314140", "resource": "KEGG Pathway", "id": "rno:314140", "name": "" }, { "reaction_list": [ "R-RNO-111215", "R-RNO-71306", "R-RNO-73580" ], "resource": "Reactome", "description": "5-Phosphoribose 1-diphosphate biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73843", "id": "R-RNO-73843", "name": "5-Phosphoribose 1-diphosphate biosynthesis" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#function", "annotation": "Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#function", "id": "A0A0G2JSV3", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "G3UXL2-1", "protein_name": "Ribose-phosphate diphosphokinase", "sequence": { "length": 318, "sequence": "MSNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0A0G2JSV3/", "id": "A0A0G2JSV3", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Prps1l3", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": {}, "reaction_enzymes": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "activity": "", "gene_name": "LOC314140", "uniprot_ac": "A0A0G2JSV3", "ec_number": "2.7.6.1" }, { "url": "https://www.uniprot.org/uniprot/M0RBK1", "activity": "", "gene_name": "Prps1l1", "uniprot_ac": "M0RBK1", "ec_number": "2.7.6.1" }, { "url": "https://www.uniprot.org/uniprot/P09330", "activity": "", "gene_name": "Prps2", "uniprot_ac": "P09330", "ec_number": "2.7.6.1" }, { "url": "https://www.uniprot.org/uniprot/P60892", "activity": "", "gene_name": "Prps1", "uniprot_ac": "P60892", "ec_number": "2.7.6.1" } ], "site_annotation": [ { "end_pos": 160, "annotation": "n_glycosylation_sequon", "start_pos": 158 }, { "end_pos": 166, "annotation": "n_glycosylation_sequon", "start_pos": 164 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000056011", "id": "ENSRNOG00000056011", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06223", "id": "cd06223", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/314140", "id": "314140", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000836", "id": "IPR000836", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000842", "id": "IPR000842", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005946", "id": "IPR005946", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029057", "id": "IPR029057", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029099", "id": "IPR029099", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037515", "id": "IPR037515", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:314140", "id": "rno:314140", "database": "KEGG Pathway" }, { "url": "https://omabrowser.org/oma/group/DIYIIMQ/", "id": "DIYIIMQ", "database": "OMA" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10210", "id": "PTHR10210", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF13793", "id": "PF13793", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF14572", "id": "PF14572", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73843", "id": "R-RNO-73843", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694", "id": "NP_001009694", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694.1", "id": "NP_001009694.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1359636", "id": "1359636", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "id": "A0A0G2JSV3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3-1", "id": "A0A0G2JSV3-1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "DOID:0050647", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "description": "", "name": "syndromic X-linked mental retardation 18", "id": "DOID:0050647" }, { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "description": "", "name": "ARTS", "id": "DOID:0050647" }, { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "description": "", "name": "syndromic X-linked mental retardation Arts type", "id": "DOID:0050647" }, { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "description": "", "name": "MRXSARTS", "id": "DOID:0050647" }, { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "description": "", "name": "fatal X-linked ataxia with deafness and loss of vision", "id": "DOID:0050647" }, { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "description": "", "name": "MRXS18", "id": "DOID:0050647" }, { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "description": "", "name": "Lethal ataxia with deafness and optic atrophy", "id": "DOID:0050647" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "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.", "name": "Arts syndrome", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "syndromic X-linked mental retardation 18", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "Arts", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "syndromic X-linked mental retardation Arts type", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "MRXSARTS", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "X-linked fatal ataxia with deafness and loss of vision", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "lethal ataxia with deafness and optic atrophy", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "mental retardation, X-linked, syndromic, Arts type", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "lethal ataxia-deafness-optic atrophy", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "fatal X-linked ataxia with deafness and loss of vision", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "mental retardation, X-linked, syndromic 18", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "ataxia, fatal X-linked, with deafness and loss of vision", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "MRXS18", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "Arts syndrome", "id": "MONDO:0010533" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010533", "resource": "MONDO", "description": "", "name": "Arts syndrome; Arts", "id": "MONDO:0010533" }, { "url": "https://www.omim.org/entry/301835", "resource": "MIM", "description": "ARTS syndrome", "name": "ARTS syndrome", "id": "MIM:301835" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0050647", "resource": "Disease Ontology", "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.", "name": "Arts syndrome", "id": "DOID:0050647" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0050647#disease-associations", "id": "0050647", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0110210", "synonyms": [ { "url": 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Females are asymptomatic and do not display the phenotype.", "name": "Charcot-Marie-Tooth disease X-linked recessive 5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "CMTX5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "optic atrophy, sensorineural hearing loss and polyneuropathy", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Rosenberg-Chutorian syndrome", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "CMT5X", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "familial opticoacoustic nerve degeneration and polyneuropathy", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Charcot-Marie-Tooth disease X-linked recessive type 5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5; CMTX5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "optic atrophy, polyneuropathy, and deafness", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "X-linked Charcot-Marie-Tooth disease type 5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Charcot-Marie-Tooth disease, X-linked recessive, type 5", "id": "MONDO:0010699" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010699", "resource": "MONDO", "description": "", "name": "Charcot-Marie-Tooth neuropathy X type 5", "id": "MONDO:0010699" }, { "url": "https://www.omim.org/entry/311070", "resource": "MIM", "description": "Charcot-Marie-Tooth disease, X-linked recessive, 5", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5", "id": "MIM:311070" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0110210", "resource": "Disease Ontology", "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.", "name": "Charcot-Marie-Tooth disease X-linked recessive 5", "id": "DOID:0110210" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0110210#disease-associations", "id": "0110210", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0111260", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0111260", "resource": "Disease Ontology", "description": "", "name": "PRPS1 superactivity", "id": "DOID:0111260" }, { "url": "http://disease-ontology.org/term/DOID:0111260", "resource": "Disease Ontology", "description": "", "name": "PRPP synthetase superactivity", "id": "DOID:0111260" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010395", "resource": "MONDO", "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).", "name": "phosphoribosylpyrophosphate synthetase superactivity", "id": "MONDO:0010395" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010395", "resource": "MONDO", "description": "", "name": "PRPP synthetase superactivity", "id": "MONDO:0010395" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010395", "resource": "MONDO", "description": "", "name": "PRPS1 superactivity", "id": "MONDO:0010395" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010395", "resource": "MONDO", "description": "", "name": "gout, PRPS-related", "id": "MONDO:0010395" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010395", "resource": "MONDO", "description": "", "name": "phosphoribosylpyrophosphate synthetase superactivity", "id": "MONDO:0010395" }, { "url": "https://www.omim.org/entry/300661", "resource": "MIM", "description": "Phosphoribosylpyrophosphate synthetase superactivity", "name": "Phosphoribosylpyrophosphate synthetase superactivity", "id": "MIM:300661" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0111260", "resource": "Disease Ontology", "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.", "name": "phosphoribosylpyrophosphate synthetase superactivity", "id": "DOID:0111260" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111260#disease-associations", "id": "0111260", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0111739", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0111739", "resource": "Disease Ontology", "description": "", "name": "DFNX1", "id": "DOID:0111739" }, { "url": "http://disease-ontology.org/term/DOID:0111739", "resource": "Disease Ontology", "description": "", "name": "X-linked sensorineural congenital deafness 2", "id": "DOID:0111739" }, { "url": "http://disease-ontology.org/term/DOID:0111739", "resource": "Disease Ontology", "description": "", "name": "DFN2", "id": "DOID:0111739" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010577", "resource": "MONDO", "description": "", "name": "deafness, X-linked 1", "id": "MONDO:0010577" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010577", "resource": "MONDO", "description": "", "name": "deafness, X-linked type 1", "id": "MONDO:0010577" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010577", "resource": "MONDO", "description": "", "name": "deafness, X-linked 1; DFNX1", "id": "MONDO:0010577" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010577", "resource": "MONDO", "description": "", "name": "DFNX1", "id": "MONDO:0010577" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010577", "resource": "MONDO", "description": "", "name": "deafness, X-linked 1", "id": "MONDO:0010577" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010577", "resource": "MONDO", "description": "", "name": "deafness, X-linked 2, sensorineural congenital", "id": "MONDO:0010577" }, { "url": "https://www.omim.org/entry/304500", "resource": "MIM", "description": "Deafness, X-linked, 1", "name": "Deafness, X-linked, 1", "id": "MIM:304500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0111739", "resource": "Disease Ontology", "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.", "name": "X-linked deafness 1", "id": "DOID:0111739" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111739#disease-associations", "id": "0111739", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:10584", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10584", "resource": "Disease Ontology", "description": "", "name": "pericentral pigmentary retinopathy", "id": "DOID:10584" }, { "url": "https://monarchinitiative.org/disease/MONDO:0019200", "resource": "MONDO", "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.", "name": "retinitis pigmentosa", "id": "MONDO:0019200" }, { "url": "https://monarchinitiative.org/disease/MONDO:0019200", "resource": "MONDO", "description": "", "name": "pericentral pigmentary retinopathy", "id": "MONDO:0019200" }, { "url": "https://monarchinitiative.org/disease/MONDO:0019200", "resource": "MONDO", "description": "", "name": "Rod-cone dystrophy", "id": "MONDO:0019200" }, { "url": "https://www.omim.org/entry/268000", "resource": "MIM", "description": "Retinitis pigmentosa", "name": "Retinitis pigmentosa", "id": "MIM:268000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10584", "resource": "Disease Ontology", "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.", "name": "retinitis pigmentosa", "id": "DOID:10584" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/10584#disease-associations", "id": "10584", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:13189", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:13189", "resource": "Disease Ontology", "description": "", "name": "Articular gout", "id": "DOID:13189" }, { "url": "http://disease-ontology.org/term/DOID:13189", "resource": "Disease Ontology", "description": "", "name": "Gouty arthropathy", "id": "DOID:13189" }, { "url": "http://disease-ontology.org/term/DOID:13189", "resource": "Disease Ontology", "description": "", "name": "gouty arthritis", "id": "DOID:13189" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:13189", "resource": "Disease Ontology", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.", "name": "gout", "id": "DOID:13189" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/13189#disease-associations", "id": "13189", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 34806.0, "chemical_mass": 34806.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", "name": "LOC314140", "locus": { "end_pos": 78180924, "strand": "+", "start_pos": 78172762, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000056011", "id": "ENSRNOG00000056011", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "2.7.6.1" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Ribose-phosphate diphosphokinase" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JSV3", "type": "synonym", "resource": "RefSeq", "name": "ribose-phosphate pyrophosphokinase 1" } ] }