{ "uniprot_canonical_ac": "A4D126-1", "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": "CTP + D-ribitol 5-phosphate = diphosphate + CDP-ribitol." }, { "ec": "2.7.7.40", "activity": "" } ], "synonyms": { "protein": { "refseq": [ "D-ribitol-5-phosphate cytidylyltransferase isoform b", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog; notch1-induced protein; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; testicular tissue protein Li 97; D-ribitol-5-phosphate cytidylyltransferase; isoprenoid synthase domain containing" ], "uniprotkb": [ "D-ribitol-5-phosphate cytidylyltransferase", "2.7.7.40", "Isoprenoid synthase domain-containing protein", "hISPD", "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein" ] }, "gene": { "refseq": [ "CRPPA", "hISPD", "ISPD", "LGMDR20", "MDDGA7", "MDDGC7", "Nip" ], "uniprotkb": [ "CRPPA", "ISPD", "hISPD", "LGMDR20", "MDDGA7", "MDDGC7", "Nip" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "D-ribitol-5-phosphate cytidylyltransferase; 2.7.7.40; Isoprenoid synthase domain-containing protein; hISPD; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein." }, "publication": [ { "title": "Recent advancements in understanding mammalian O-mannosylation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28810660", "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", "pmid": "28810660" }, { "title": "Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27234031", "journal": "Clin. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "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", "pmid": "27234031" }, { "title": "Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26923585", "journal": "Cell Rep.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "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", "pmid": "26923585" }, { "title": "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27194101", "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", "pmid": "27194101" }, { "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.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27601598", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Kato K., Yagi H., Kuo C.W., Khoo K.H., Ninagawa S., Obayashi T.", "date": "2016", "pmid": "27601598" }, { "title": "Human ISPD is a cytidyltransferase required for dystroglycan O-mannosylation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26687144", "journal": "Chem. Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "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", "pmid": "26687144" }, { "title": "ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26404900", "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", "pmid": "26404900" }, { "title": "Impact of four loci on serum tamsulosin hydrochloride concentration.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23151678", "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", "pmid": "23151678" }, { "title": "Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23390185", "journal": "Neurology", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "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", "pmid": "23390185" }, { "title": "ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23288328", "journal": "Brain", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "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", "pmid": "23288328" }, { "title": "160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24120487", "journal": "Eur. J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Wieczorek D., Hehr U., Czeschik J.C., Luedecke H.J., Hartmann B., Rosenbaum T., Schweiger B.", "date": "2013", "pmid": "24120487" }, { "title": "Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23217329", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F, Seta N", "date": "2012", "pmid": "23217329" }, { "title": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22522421", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delree P, Willemsen MA, Ramadza DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H", "date": "2012", "pmid": "22522421" }, { "title": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22522420", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A4D126/publications", "id": "A4D126", "database": "UniProtKB" } ], "authors": "Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP", "date": "2012", "pmid": "22522420" }, { "title": "Endotoxin in vivo impairs endothelium-dependent relaxation of canine arteries in vitro.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/2252242", "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", "pmid": "2252242" } ], "glycosylation": [], "mutation": [ { "start_pos": 382, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "V", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 382, "type": "Point mutation" }, { "start_pos": 33, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 33, "type": "Point mutation" }, { "start_pos": 24, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 24, "type": "Point mutation" }, { "start_pos": 393, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "id": "A4D126", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 393, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D126#A4D126-1", "isoform_ac": "A4D126-1", "locus": { "end_pos": 16091698, "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, "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/www_bget?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": "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": "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": "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" } ] }, { "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": "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" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5S6T3-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase; 2.7.7.40; Isoprenoid synthase domain-containing protein; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; Notch1-induced protein.", "sequence": { "length": 447, "sequence": "MESGPCSRPAEPRHCVSGRAGAGLAFPAFPLSAAGAEPGSRIGTVAAVLPAGGCGERMGVRTPKQFCRVLERPLISYTLQAMERVCWIKDIVVTVTGENMEAMRSIIQRYGHKRISLAEAGATRHRSIFNGLKALAEDQPGCELTRPEVVIIHDAVRPFVEEDILLRVVLAAKEHGAAGAIRPLVSTVVSPSADGHLDHSLDRAKHRASEMPQAFHFDVIYEAYQKCSDFDLEFGTECLQLALKYCHRKAKLVEGTPDLWKVTYKQDLCAAEAMIKEKISQEICVVVNTKDEESVGHLLEEVLRNELNCIKVTSTVLDRTSGDIENFIDQCYSFICVNVVSSESRETRKLLSILEESSLPLLYPVVVVLVHCFDFTVVPLAQKMENLVWIRELAKEAKGRNVLLSGVLLNHSQDEQKLQESLVQSAAIIAALVKERNSALVGQLLVA" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/45614", "id": "45614", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D126/", "id": "A4D126", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q5RJG7-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase; 2.7.7.40; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; Isoprenoid synthase domain-containing protein.", "sequence": { "length": 447, "sequence": "MEPGPCSRPAEPGHCVSGPAGAGSAFPESPLSVAGAEPGNRPGTVAAVLPAGGCGERMGVRTPKQFCRVLERPLISYTLQAMERVCWIKDIVVTVTGENMEAMRSIIQRYGHKRISLAEAGATRHRSIFNGLKALAEDQPDCKLTKPEVVIIHDAVRPFVEEDILLRVVLAAKEHGAAGAIRPLVSTVISPSADGHLDHSLDRAKHRASEMPQAFLFDVIYEAYQQCSDFDLEFGTECLQLALKYCHRKAKLVEGPPALWKVTYKQDLCAAEAMIKEKISQEICVVMNTKDEESVGHLLEEALRKELNCMKITSTVMDHIGGDIRNFIEQCYSFICVNVVSPDSQETRKLLRILEESSLPLLYPVVVVLVHCFDFTSVPLAQKMESLVWIRGLAKEVKERNILLSGLLLNYSQDEQKLQESLGQSAAIIAALVKERNSALVGQLLVA" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/45614", "id": "45614", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "ac": "NP_001094887.1", "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b; 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog; notch1-induced protein; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; testicular tissue protein Li 97; D-ribitol-5-phosphate cytidylyltransferase; isoprenoid synthase domain containing.", "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", "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", "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", "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", "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", "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", "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", "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", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126", "database": "UniProtKB" } ], "name": "isoprenoid biosynthetic process", "id": "GO:0008299" } ], "total": 4, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 344, "annotation": "n_glycosylation_sequon", "start_pos": 342 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887.1", "id": "NP_001094887.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=37276", "id": "37276", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A4D126", "id": "A4D126", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A4D126", "id": "NX_A4D126", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRPPA", "id": "CRPPA", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:729920", "id": "hsa:729920", "database": "KEGG Pathway" }, { "url": "https://www.rcsb.org/structure/4CVH", "id": "4CVH", "database": "PDB" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "id": "ENSG00000214960", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/MESLMWI/", "id": "MESLMWI", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02516", "id": "cd02516", "database": "CDD" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029044", "id": "IPR029044", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018294", "id": "IPR018294", "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": "http://pfam.xfam.org/family/PF01128", "id": "PF01128", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF18706", "id": "PF18706", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D126", "id": "PR_A4D126", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D126*", "id": "A4D126", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/729920", "id": "729920", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126", "id": "A4D126", "database": "BioXpress" } ] } ], "uniprot_ac": "A4D126", "disease": [ { "doid": "0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "icd10": "", "name": "Congenital muscular dystrophy-dystroglycanopathy A7 [DO disease name]", "evidence": [ { "url": "https://www.omim.org/entry/614643", "id": "614643", "database": "OMIM" } ] }, { "doid": "0110295", "url": "http://disease-ontology.org/term/DOID:0110295", "icd10": "G71.0", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2U [DO disease name]", "evidence": [ { "url": "https://www.omim.org/entry/616052", "id": "616052", "database": "OMIM" } ] } ], "mass": { "monoisotopic_mass": 49873.0, "chemical_mass": 49873.0 }, "expression_tissue": [ { "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" } ] }, { "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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A4D126", "name": "CRPPA; ISPD; hISPD; LGMDR20; MDDGA7; MDDGC7; Nip.", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "0", "evidence": [] } } ] }