{ "uniprot_canonical_ac": "A4D126-1", "ptm_annotation": [], "sequence": { "header": "sp|A4D126-1|ISPD_HUMAN Isoform 1 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1", "length": 451, "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA" }, "uniprot_id": "ISPD_HUMAN", "enzyme_annotation": [ { "ec": "2.7.7.40", "activity": "" }, { "ec": "2.7.7.40", "activity": "CTP + D-ribitol 5-phosphate = diphosphate + CDP-ribitol." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/2252242", "type": [ "PubMed" ], "id": "2252242" } ], "title": "Endotoxin in vivo impairs endothelium-dependent relaxation of canine arteries in vitro.", "journal": "The American review of respiratory disease", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Wylam ME, Samsel RW, Umans JG, Mitchell RW, Leff AR, Schumacker PT", "date": "1990" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22522420", "type": [ "PubMed" ], "id": "22522420" } ], "title": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "journal": "Nat. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Lee H., Muntoni F., Nelson S.F., Dobyns W.B., Voit T., Campbell K.P., Cirak S., Venzke D., Willer T., Yoshida-Moriguchi T., Mathews K.D., Moore S.A., Schachter H., de Bernabe D.B., Winder T.L., Loder A.S., Lommel M., Strahl S., Vajsar J.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22522421", "type": [ "PubMed" ], "id": "22522421" } ], "title": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.", "journal": "Nat. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Chitayat D., Devriendt K., Kayserili H., Sheridan E., Zhou H., Brunner H.G., Gilissen C., Veltman J.A., Vissers L.E., van Bokhoven H., Mancini G.M., Roscioli T., Kamsteeg E.J., Lefeber D.J., Bennett C., van Reeuwijk J., Peeters E.A., Buysse K., Lin Y.Y., Riemersma M., Stemple D.L., van Beusekom E., van den Elzen C., Schraders M., Pfundt R., Willemsen M.A., Altunoglu U., de Die-Smulders C.E., Buckley M.F., Maystadt I., Delree P., El-Hashash O.A., Grisart B., Ramadza D.P., Tan-Sindhunata G.M.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23151678", "type": [ "PubMed" ], "id": "23151678" } ], "title": "Impact of four loci on serum tamsulosin hydrochloride concentration.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Takata R, Matsuda K, Sugimura J, Obara W, Fujioka T, Okihara K, Takaha N, Miki T, Ashida S, Inoue K, Tanikawa C, Shuin T, Sasaki S, Kojima Y, Kohri K, Kubo M, Yamaguchi M, Ohnishi Y, Nakamura Y", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23217329", "type": [ "PubMed" ], "id": "23217329" } ], "title": "Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Attie-Bitach T., Aziza J., Bonniere M., Encha-Razavi F., Gonzales M., Laquerriere A., Odent S., Seta N., Vuillaumier-Barrot S., Fallet-Bianco C., Loget P., Bole-Feysot C., Devisme L., Gazal S., Grandchamp B., Bazin A., Loeuillet L., Bouchet-Seraphin C., Chelbi M., Guimiot F., Bernard J.P., Carles D., Clemenson A., Monnot S., Quentin S., Socha K.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23288328", "type": [ "PubMed" ], "id": "23288328" } ], "title": "ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.", "journal": "Brain", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Nuernberg P., Muntoni F., Sewry C.A., Voit T., Plagnol V., Brodd L., Campbell K.P., Cirak S., Foley A.R., Hurles M., Stevens E., Torelli S., Willer T., Yau S., Herrmann R., Vondracek P., Michele D.E., Moore S.A., Longman C., Korinthenberg R., Roper H., Kamynina A., Marrosu G.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23390185", "type": [ "PubMed" ], "id": "23390185" } ], "title": "Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene.", "journal": "Neurology", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Bertini E., Bruno C., Santorelli F.M., Aiello C., Ricci E., Tasca G., Cassandrini D., Fiorillo C., Moro F.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24120487", "type": [ "PubMed" ], "id": "24120487" } ], "title": "160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.", "journal": "Eur. J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Wieczorek D., Hehr U., Czeschik J.C., Luedecke H.J., Hartmann B., Rosenbaum T., Schweiger B.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26404900", "type": [ "PubMed" ], "id": "26404900" } ], "title": "ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.", "journal": "BMC neurology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, Moggio M, Bresolin N, Comi GP", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26687144", "type": [ "PubMed" ], "id": "26687144" } ], "title": "Human ISPD is a cytidyltransferase required for dystroglycan O-mannosylation.", "journal": "Chem. Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "authors": "von Delft F., van Bokhoven H., Yue W.W., Engelke U.F., Lefeber D.J., Endo T., Tessari M., Riemersma M., Froese D.S., Ashikov A., van Scherpenzeel M., Swiezewska E., Brummelkamp T.R., Krojer T., Kopec J., Buczkowska A., Jae L.T., Manya H., van Tol W.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26923585", "type": [ "PubMed" ], "id": "26923585" } ], "title": "Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.", "journal": "Cell Rep.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Kobayashi K., Shinohara Y., Yamaguchi Y., Toda T., Endo T., Mizuno M., Wada Y., Kawakami H., Kanagawa M., Tajiri M., Manya H., Akasaka-Manya K., Furukawa J.I., Kuga A.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27194101", "type": [ "PubMed" ], "id": "27194101" } ], "title": "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan.", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27234031", "type": [ "PubMed" ], "id": "27234031" } ], "title": "Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.", "journal": "Clin. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Kariminejad A., Najmabadi H., Nafissi S., Kahrizi K., Abolhassani A., Akbari M.R., Beheshtian M., Fadaee M., Fattahi Z., Kalhor Z., Nilipour Y., Parsimehr E., Vazehan R., Zamani G.", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27601598", "type": [ "PubMed" ], "id": "27601598" } ], "title": "Direct mapping of additional modifications on phosphorylated O-glycans of alpha-dystroglycan by mass spectrometry analysis in conjunction with knocking out of causative genes for dystroglycanopathy.", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Kato K., Yagi H., Kuo C.W., Khoo K.H., Ninagawa S., Obayashi T.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28810660", "type": [ "PubMed" ], "id": "28810660" } ], "title": "Recent advancements in understanding mammalian O-mannosylation.", "journal": "Glycobiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "authors": "Sheikh MO, Halmo SM, Wells L", "date": "2017" } ], "uniprot_ac": "A4D126", "site_annotation": [ { "end_pos": 344, "annotation": "n_glycosylation_sequon", "start_pos": 342 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D126#A0A6Q8PF75-1", "isoform_ac": "A0A6Q8PF75-1", "locus": { "end_pos": 16091698, "strand": "+", "start_pos": 16406291, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000675257", "id": "ENST00000675257", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000501664", "id": "ENSP00000501664", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A6Q8PF75-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1", "length": 315, "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA" } }, { "url": "https://www.uniprot.org/uniprot/A4D126#A0A6Q8PG39-1", "isoform_ac": "A0A6Q8PG39-1", "locus": { "end_pos": 16091698, "strand": "+", "start_pos": 16406291, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000676325", "id": "ENST00000676325", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000502074", "id": "ENSP00000502074", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A6Q8PG39-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1", "length": 350, "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA" } }, { "url": "https://www.uniprot.org/uniprot/A4D126#A0A6Q8PHI3-1", "isoform_ac": "A0A6Q8PHI3-1", "locus": { "end_pos": 16216111, "strand": "+", "start_pos": 16406291, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000674759", "id": "ENST00000674759", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000502749", "id": "ENSP00000502749", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A6Q8PHI3-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1", "length": 301, "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVK" } }, { "url": "https://www.uniprot.org/uniprot/A4D126#A4D126-1", "isoform_ac": "A4D126-1", "locus": { "end_pos": 16091698, "strand": "+", "start_pos": 16421322, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000407010", "id": "ENST00000407010", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000385478", "id": "ENSP00000385478", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D126-1|ISPD_HUMAN Isoform 1 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1", "length": 451, "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA" } }, { "url": "https://www.uniprot.org/uniprot/A4D126#A4D126-2", "isoform_ac": "A4D126-2", "locus": { "end_pos": 16091698, "strand": "+", "start_pos": 16421322, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000399310", "id": "ENST00000399310", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000382249", "id": "ENSP00000382249", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D126-2|ISPD_HUMAN Isoform 2 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1", "length": 401, "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729920", "resource": "KEGG Pathway", "id": "hsa:729920", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A4D126#function", "annotation": "Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126#function", "id": "A4D126", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "annotation": "Data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "annotation": "ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "annotation": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "annotation": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "annotation": "TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5RJG7-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "sequence": { "length": 447, "sequence": "MEPGPCSRPAEPGHCVSGPAGAGSAFPESPLSVAGAEPGNRPGTVAAVLPAGGCGERMGVRTPKQFCRVLERPLISYTLQAMERVCWIKDIVVTVTGENMEAMRSIIQRYGHKRISLAEAGATRHRSIFNGLKALAEDQPDCKLTKPEVVIIHDAVRPFVEEDILLRVVLAAKEHGAAGAIRPLVSTVISPSADGHLDHSLDRAKHRASEMPQAFLFDVIYEAYQQCSDFDLEFGTECLQLALKYCHRKAKLVEGPPALWKVTYKQDLCAAEAMIKEKISQEICVVMNTKDEESVGHLLEEALRKELNCMKITSTVMDHIGGDIRNFIEQCYSFICVNVVSPDSQETRKLLRILEESSLPLLYPVVVVLVHCFDFTSVPLAQKMESLVWIRGLAKEVKERNILLSGLLLNYSQDEQKLQESLGQSAAIIAALVKERNSALVGQLLVA" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/45614", "id": "45614", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q5S6T3-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "sequence": { "length": 447, "sequence": "MESGPCSRPAEPRHCVSGRAGAGLAFPAFPLSAAGAEPGSRIGTVAAVLPAGGCGERMGVRTPKQFCRVLERPLISYTLQAMERVCWIKDIVVTVTGENMEAMRSIIQRYGHKRISLAEAGATRHRSIFNGLKALAEDQPGCELTRPEVVIIHDAVRPFVEEDILLRVVLAAKEHGAAGAIRPLVSTVVSPSADGHLDHSLDRAKHRASEMPQAFHFDVIYEAYQKCSDFDLEFGTECLQLALKYCHRKAKLVEGTPDLWKVTYKQDLCAAEAMIKEKISQEICVVVNTKDEESVGHLLEEVLRNELNCIKVTSTVLDRTSGDIENFIDQCYSFICVNVVSSESRETRKLLSILEESSLPLLYPVVVVLVHCFDFTVVPLAQKMENLVWIRELAKEAKGRNVLLSGVLLNHSQDEQKLQESLVQSAAIIAALVKERNSALVGQLLVA" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/45614", "id": "45614", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "start_pos": 24, "alt_nt": "T", "chr_id": "7", "ref_nt": "G", "chr_pos": "16460877", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 24, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Q", "start_pos": 33, "alt_nt": "C", "chr_id": "7", "ref_nt": "T", "chr_pos": "16460850", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 33, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 382, "alt_nt": "G", "chr_id": "7", "ref_nt": "C", "chr_pos": "16255798", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 382, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Q", "start_pos": 393, "alt_nt": "A", "chr_id": "7", "ref_nt": "G", "chr_pos": "16255765", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "*", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 393, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "ac": "NP_001094887.1", "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b", "summary": "This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "pmid": "26687144", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "protein homodimerization activity", "id": "GO:0042803" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047349", "pmid": "26687144", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "D-ribitol-5-phosphate cytidylyltransferase activity", "id": "GO:0047349" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070567", "pmid": "26687144", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "cytidylyltransferase activity", "id": "GO:0070567" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "26687144", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "pmid": "22522420", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "protein O-linked mannosylation", "id": "GO:0035269" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "pmid": "22522421", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "protein O-linked mannosylation", "id": "GO:0035269" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "axon guidance", "id": "GO:0007411" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008299", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "isoprenoid biosynthetic process", "id": "GO:0008299" } ], "total": 4, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D126", "type": "synonym", "resource": "RefSeq", "name": "CRPPA" }, { "url": "https://www.uniprot.org/uniprot/A4D126", "type": "recommended", "resource": "UniProtKB", "name": "CRPPA" }, { "url": "https://www.uniprot.org/uniprot/A4D126", "type": "synonym", "resource": "UniProtKB", "name": "ISPD" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D126", "type": "synonym", "resource": "RefSeq", "name": "hISPD; ISPD; LGMDR20; MDDGA7; MDDGC7; Nip" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02516", "id": "cd02516", "database": "CDD" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRPPA", "id": "CRPPA", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/729920", "id": "729920", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=37276", "id": "37276", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D126*", "id": "A4D126", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018294", "id": "IPR018294", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029044", "id": "IPR029044", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR034683", "id": "IPR034683", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR040635", "id": "IPR040635", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729920", "id": "hsa:729920", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/614631", "id": "614631", "database": "MIM" }, { "url": "http://www.omim.org/entry/614643", "id": "614643", "database": "MIM" }, { "url": "http://www.omim.org/entry/616052", "id": "616052", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A4D126", "id": "NX_A4D126", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/MESLMWI/", "id": "MESLMWI", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1356473at2759", "id": "1356473at2759", "database": "OrthoDB" }, { "url": "https://www.rcsb.org/structure/4CVH", "id": "4CVH", "database": "PDB" }, { "url": "http://pfam.xfam.org/family/PF01128", "id": "PF01128", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF18706", "id": "PF18706", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A4D126", "id": "A4D126", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D126", "id": "PR_A4D126", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "muscular dystrophy limb-girdle type 2U", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "ISPD autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "MDDGC7", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "LGMD2U", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "muscular dystrophy, limb-girdle, type 2U", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; MDDGC7", "description": "" }, { "id": "MONDO:0014474", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "resource": "MONDO", "name": "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency", "description": "" }, { "id": "DOID:0110295", "url": "http://disease-ontology.org/term/DOID:0110295", "resource": "Disease Ontology", "name": "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency", "description": "" }, { "id": "DOID:0110295", "url": "http://disease-ontology.org/term/DOID:0110295", "resource": "Disease Ontology", "name": "LGMD2U", "description": "" }, { "id": "DOID:0110295", "url": "http://disease-ontology.org/term/DOID:0110295", "resource": "Disease Ontology", "name": "MDDGC7", "description": "" }, { "id": "DOID:0110295", "url": "http://disease-ontology.org/term/DOID:0110295", "resource": "Disease Ontology", "name": "muscular dystrophy limb-girdle type 2U", "description": "" }, { "id": "DOID:0110295", "url": "http://disease-ontology.org/term/DOID:0110295", "resource": "Disease Ontology", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7", "description": "" }, { "id": "MIM:616052", "url": "https://www.omim.org/entry/616052", "resource": "MIM", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C7", "description": "" } ], "recommended_name": { "id": "DOID:0110295", "url": "http://disease-ontology.org/term/DOID:0110295", "resource": "Disease Ontology", "name": "autosomal recessive limb-girdle muscular dystrophy type 2U", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21." }, "evidence": [ { "url": "https://www.omim.org/entry/616052", "id": "616052", "database": "MIM" } ] }, { "synonyms": [ { "id": "MONDO:0013835", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "resource": "MONDO", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7", "description": "" }, { "id": "MONDO:0013835", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "resource": "MONDO", "name": "ISPD muscular dystrophy-dystroglycanopathy, type A", "description": "" }, { "id": "MONDO:0013835", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "resource": "MONDO", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related", "description": "" }, { "id": "MONDO:0013835", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "resource": "MONDO", "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD", "description": "" }, { "id": "MONDO:0013835", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "resource": "MONDO", "name": "MDDGA7", "description": "" }, { "id": "MONDO:0013835", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "resource": "MONDO", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; MDDGA7", "description": "" }, { "id": "DOID:0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related", "description": "" }, { "id": "DOID:0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7", "description": "" }, { "id": "DOID:0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "MDDGA7", "description": "" } ], "recommended_name": { "id": "DOID:0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "congenital muscular dystrophy-dystroglycanopathy A7", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1." }, "evidence": [ { "url": "https://monarchinitiative.org/disease/MONDO:0013835", "id": "0013835", "database": "MONDO" }, { "url": "https://www.omim.org/entry/614643", "id": "614643", "database": "MIM" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 49873.0, "chemical_mass": 49873.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "name": "CRPPA", "locus": {} } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "type": "synonym", "resource": "UniProtKB", "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein" }, { "url": "https://www.uniprot.org/uniprot/A4D126", "type": "synonym", "resource": "UniProtKB", "name": "2.7.7.40" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D126", "type": "synonym", "resource": "RefSeq", "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b" }, { "url": "https://www.uniprot.org/uniprot/A4D126", "type": "recommended", "resource": "UniProtKB", "name": "D-ribitol-5-phosphate cytidylyltransferase" }, { "url": "https://www.uniprot.org/uniprot/A4D126", "type": "synonym", "resource": "UniProtKB", "name": "Isoprenoid synthase domain-containing protein" }, { "url": "https://www.uniprot.org/uniprot/A4D126", "type": "synonym", "resource": "UniProtKB", "name": "hISPD" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D126", "type": "synonym", "resource": "RefSeq", "name": "notch1-induced protein; isoprenoid synthase domain containing; 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; testicular tissue protein Li 97; D-ribitol-5-phosphate cytidylyltransferase" } ] }