{ "uniprot_canonical_ac": "A0A8I5ZPV8-1", "uniprot_ac": "A0A8I5ZPV8", "uniprot_id": "A0A8I5ZPV8_RAT", "mass": { "chemical_mass": 45415.0, "monoisotopic_mass": 45415.0 }, "refseq": { "ac": "NP_001034695", "name": "GDP-mannose 4,6 dehydratase", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034695" }, "gene_names": [ { "name": "Gmds", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8", "id": "A0A8I5ZPV8" }, { "name": "Gmds", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034695", "id": "NP_001034695" }, { "name": "rCG_44147", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8", "id": "A0A8I5ZPV8" } ], "protein_names": [ { "name": "GDP-mannose 4,6-dehydratase", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8#names_and_taxonomy", "id": "A0A8I5ZPV8" }, { "name": "4.2.1.47", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8#names_and_taxonomy", "id": "A0A8I5ZPV8" }, { "name": "GDP-D-mannose dehydratase", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8#names_and_taxonomy", "id": "A0A8I5ZPV8" }, { "name": "GDP-mannose 4,6 dehydratase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034695", "id": "NP_001034695" } ], "function": [], "disease": [ { "disease_id": "DOID:0070255", "recommended_name": { "id": "DOID:0070255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070255", "name": "congenital disorder of glycosylation type IIc", "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2." }, "synonyms": [ { "id": "DOID:0070255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070255", "name": "CDG IIc", "description": "" }, { "id": "DOID:0070255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070255", "name": "CDG2C", "description": "" }, { "id": "DOID:0070255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070255", "name": "CDGIIc", "description": "" }, { "id": "DOID:0070255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070255", "name": "Rambam-Hasharon syndrome", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "leukocyte adhesion deficiency type II", "description": "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "leukocyte adhesion deficiency type 2", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "SLC35C1-CDG", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "leukocyte adhesion deficiency, type 2", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "CDG syndrome type IIc", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "SLC35C1-CDG (CDG-IIc)", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "LAD2", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "congenital disorder of glycosylation, type IIc; CDG2C", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "Rambam-Hasharon syndrome", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "lad-II", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "congenital disorder of glycosylation type IIC", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "congenital disorder of glycosylation, type IIc", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "CDGIIc", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "CDG-IIc", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "RHS", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "sialyl-Lewis X defect", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "lad-type II", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "CDG2C", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "CDG IIc", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "leukocyte adhesion deficiency, type II", "description": "" }, { "id": "MONDO:0009953", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009953", "name": "CDG 2C", "description": "" }, { "id": "MIM:266265", "resource": "MIM", "url": "https://www.omim.org/entry/266265", "name": "Congenital disorder of glycosylation 2C", "description": "Congenital disorder of glycosylation 2C" } ], "evidence": [ { "id": "0070255", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070255" } ] }, { "disease_id": "DOID:1067", "recommended_name": { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage." }, "synonyms": [ { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "Wide-angle glaucoma", "description": "" }, { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "glaucoma simplex", "description": "" }, { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "open angle glaucoma", "description": "" }, { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "pigmentary glaucoma", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "GLC1N", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "JOAG1N", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "GLC1N", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "glaucoma 1, open angle, N", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "glaucoma 1, open angle, N; GLC1N", "description": "" }, { "id": "MONDO:0012646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012646", "name": "GLC1H", "description": "" }, { "id": "MONDO:0012646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012646", "name": "glaucoma 1, open angle, H; GLC1H", "description": "" }, { "id": "MONDO:0012646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012646", "name": "GLC1H", "description": "" }, { "id": "MONDO:0012646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012646", "name": "glaucoma 1, open angle, H", "description": "" }, { "id": "MONDO:0012337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012337", "name": "GLC1I", "description": "" }, { "id": "MONDO:0012337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012337", "name": "glaucoma 1, open angle, I; GLC1I", "description": "" }, { "id": "MONDO:0012337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012337", "name": "GLC1I", "description": "" }, { "id": "MONDO:0012337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012337", "name": "glaucoma 1, open angle, I", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "GLC1M", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "GLC1M", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "glaucoma 1, open angle, M", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "glaucoma 1, open angle, M; GLC1M", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "JOAG1M", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "glaucoma 1, open angle, G", "description": "Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene." }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "GLC1G", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "open-angle glaucoma caused by mutation in WDR36", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "glaucoma 1, open angle, type G", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "glaucoma 1, open angle, G; GLC1G", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "glaucoma 1, open angle, G", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "WDR36 open-angle glaucoma", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "GLC1J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "GLC1J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "glaucoma 1, open angle, J; GLC1J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "glaucoma 1, open angle, J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "JOAG2", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "JOAG1J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "glaucoma, primary open angle, juvenile-onset, 2", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "GLC1K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "glaucoma 1, open angle, K; GLC1K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "GLC1K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "glaucoma 1, open angle, K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "JOAG1K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "glaucoma, primary open angle, juvenile-onset, 3", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, O", "description": "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene." }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "NTF4 open-angle glaucoma", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, O; GLC1O", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "open-angle glaucoma caused by mutation in NTF4", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "GLC1O", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, type O", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, O", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma 1, open angle, f", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma 1, open angle, type F", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma 1, open angle, F; GLC1F", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma 1, open angle, f", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "GLC1F", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "GLC1D", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "GLC1D", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "glaucoma 1, open angle, D", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "glaucoma 1, open angle, D; GLC1D", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "GLC1B", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "glaucoma 1, open angle, B; GLC1B", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "GLC1B", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "glaucoma 1, open angle, B", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "glaucoma 1, open angle, P", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "GLC1P", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "glaucoma 1, open angle, P; GLC1P", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "glaucoma 1, open angle, type P", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "glaucoma 1, open angle, P", "description": "" }, { "id": "MIM:609887", "resource": "MIM", "url": "https://www.omim.org/entry/609887", "name": "Glaucoma 1, open angle, G", "description": "Glaucoma 1, open angle, G" }, { "id": "MIM:613100", "resource": "MIM", "url": "https://www.omim.org/entry/613100", "name": "Glaucoma 1, open angle, O", "description": "Glaucoma 1, open angle, O" }, { "id": "MIM:603383", "resource": "MIM", "url": "https://www.omim.org/entry/603383", "name": "Glaucoma 1, open angle, F", "description": "Glaucoma 1, open angle, F" }, { "id": "MIM:177700", "resource": "MIM", "url": "https://www.omim.org/entry/177700", "name": "Glaucoma 1, open angle, P", "description": "Glaucoma 1, open angle, P" } ], "evidence": [ { "id": "1067", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ], "common_name": "Rat" } ], "gene": [ { "name": "Gmds", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8", "locus": { "chromosome": "17", "start_pos": 33408722, "end_pos": 33938085, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000017605", "url": "https://www.ensembl.org/id/ENSRNOG00000017605" } ] } } ], "crossref": [ { "id": "ENSRNOG00000017605", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000017605", "database": "Bgee" }, { "id": "291095", "url": "https://www.ncbi.nlm.nih.gov/gene/291095", "database": "GeneID" }, { "id": "IPR006368", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006368", "database": "InterPro" }, { "id": "IPR016040", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016040", "database": "InterPro" }, { "id": "IPR036291", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036291", "database": "InterPro" }, { "id": "rno:291095", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:291095", "database": "KEGG Pathway" }, { "id": "TDCLYLG", "url": "https://omabrowser.org/oma/group/TDCLYLG/", "database": "OMA" }, { "id": "877551at2759", "url": "http://www.orthodb.org/?query=877551at2759", "database": "OrthoDB" }, { "id": "PTHR43715", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43715", "database": "PANTHER" }, { "id": "PF16363", "url": "http://pfam.xfam.org/family/PF16363", "database": "Pfam" }, { "id": "R-RNO-6787639", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6787639", "database": "Reactome" }, { "id": "NP_001034695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034695", "database": "RefSeq" }, { "id": "1311008", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1311008", "database": "RGD" }, { "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8", "database": "UniProtKB" }, { "id": "A0A8I5ZPV8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8-1", "database": "UniProtKB" }, { "id": "Q3MHS7", "url": "https://www.uniprot.org/uniprot/Q3MHS7", "database": "UniProtKB" }, { "id": "Q3MHS7-1", "url": "https://www.uniprot.org/uniprot/Q3MHS7-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MAHAPASCRRYPGSGDGEMGKLRKVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAIKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFMHIGKTIVWEGKNENEVGRCKETGKIHVTVDLKYYRPTEVVRTLSPPKVWPPLASWLGKFPPGMPAANLQSFLIRLSGILHRALPKREYRELSLRYHSHHKNLLLYKEKQE", "length": 400, "header": "tr|A0A8I5ZPV8-1|A0A8I5ZPV8_RAT Isoform 1 of GDP-mannose 4,6-dehydratase OS=Rattus norvegicus OX=10116 GN=Gmds PE=3 SV=1 CANONICAL=A0A8I5ZPV8-1" }, "isoforms": [ { "isoform_ac": "A0A8I5ZPV8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8#A0A8I5ZPV8-1", "sequence": { "sequence": "MAHAPASCRRYPGSGDGEMGKLRKVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAIKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFMHIGKTIVWEGKNENEVGRCKETGKIHVTVDLKYYRPTEVVRTLSPPKVWPPLASWLGKFPPGMPAANLQSFLIRLSGILHRALPKREYRELSLRYHSHHKNLLLYKEKQE", "length": 400, "header": "tr|A0A8I5ZPV8-1|A0A8I5ZPV8_RAT Isoform 1 of GDP-mannose 4,6-dehydratase OS=Rattus norvegicus OX=10116 GN=Gmds PE=3 SV=1 CANONICAL=A0A8I5ZPV8-1" }, "locus": { "chromosome": "17", "start_pos": 32527435, "end_pos": 32095538, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000104164.1", "url": "https://www.ensembl.org/id/ENSRNOT00000104164.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000078985.1", "url": "https://www.ensembl.org/id/ENSRNOP00000078985.1" } ] } }, { "isoform_ac": "Q3MHS7-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8#Q3MHS7-1", "sequence": { "sequence": "MAHAPASCRRYPGSGDGEMGKLRKVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAIKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFMHIGKTIVWEGKNENEVGRCKETGKIHVTVDLKYYRPTEVDFLQGDCSKAQQKLNWKPRVAFDELVREMVQADVELMRTNPNA", "length": 372, "header": "tr|Q3MHS7-1|Q3MHS7_RAT Computationally mapped isoform of GDP-mannose 4,6-dehydratase OS=Rattus norvegicus OX=10116 GN=Gmds PE=2 SV=1 CANONICAL=A0A8I5ZPV8-1" }, "locus": { "chromosome": "17", "start_pos": 32621636, "end_pos": 32095538, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000023691.6", "url": "https://www.ensembl.org/id/ENSRNOT00000023691.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000023691.4", "url": "https://www.ensembl.org/id/ENSRNOP00000023691.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.", "journal": "Nature genetics", "date": "2014", "authors": "Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, Law MH, Cremin K, Bailey JNC, Loomis SJ, Pasquale LR, Haines JL, Hauser MA, Viswanathan AC, McGuffin P, Topouzis F, Foster PJ, Graham SL, Casson RJ, Chehade M, White AJ, Zhou T, Souzeau E, Landers J, Fitzgerald JT, Klebe S, Ruddle JB, Goldberg I, Healey PR, Mills RA, Wang JJ, Montgomery GW, Martin NG, RadfordSmith G, Whiteman DC, Brown MA, Wiggs JL, Mackey DA, Mitchell P, MacGregor S, Craig JE", "evidence": [ { "database": "RefSeq", "id": "NP_001034695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034695" } ], "reference": [ { "type": "PubMed", "id": "25173105", "url": "https://glygen.org/publication/PubMed/25173105" } ] }, { "title": "Molecular cloning of human GDP-mannose 4,6-dehydratase and reconstitution of GDP-fucose biosynthesis in vitro.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Sullivan FX, Kumar R, Kriz R, Stahl M, Xu GY, Rouse J, Chang XJ, Boodhoo A, Potvin B, Cumming DA", "evidence": [ { "database": "RefSeq", "id": "NP_001034695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034695" } ], "reference": [ { "type": "PubMed", "id": "9525924", "url": "https://glygen.org/publication/PubMed/9525924" } ] }, { "title": "Molecular cloning and expression of GDP-D-mannose-4,6-dehydratase, a key enzyme for fucose metabolism defective in Lec13 cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ohyama C, Smith PL, Angata K, Fukuda MN, Lowe JB, Fukuda M", "evidence": [ { "database": "RefSeq", "id": "NP_001034695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034695" } ], "reference": [ { "type": "PubMed", "id": "9603974", "url": "https://glygen.org/publication/PubMed/9603974" } ] } ], "pathway": [ { "id": "rno:291095", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:291095", "resource": "KEGG Pathway" }, { "id": "R-RNO-6787639", "name": "GDP-fucose biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6787639", "resource": "Reactome", "description": "GDP-fucose biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "O60547-1", "protein_name": "GDP-mannose 4,6 dehydratase", "gene_name": "GMDS", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAHAPARCPSARGSGDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHADVELMRTNPNA", "length": 372 }, "evidence": [ { "id": "41490465", "url": "http://www.informatics.jax.org/homology/41490465", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q8K0C9-1", "protein_name": "GDP-mannose 4,6 dehydratase", "gene_name": "Gmds", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAQAPAKCPSYPGSGDGEMGKLRKVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAIKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFMHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQGDCSKAQQKLNWKPRVAFDELVREMVQADVELMRTNPNA", "length": 372 }, "evidence": [ { "id": "41490465", "url": "http://www.informatics.jax.org/homology/41490465", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "GDP-mannose metabolic process", "id": "GO:0019673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019673", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ], "pmid": "" }, { "name": "'de novo' GDP-L-fucose biosynthetic process", "id": "GO:0042351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042351", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "GDP-mannose 4,6-dehydratase activity", "id": "GO:0008446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008446", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ], "pmid": "" }, { "name": "NADP+ binding", "id": "GO:0070401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070401", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZPV8", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-RNO-6787632", "name": "GMDS dehydrates GDP-Man to GDP-DHDMan", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

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

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-6787618" ], "enzyme_list": [ "A0A8I5ZPV8-1" ], "evidence": [ { "id": "R-RNO-6787632", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6787632" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6787618", "participant_name": "GDP-DHDMan [cytosol]", "crossref": [ { "id": "HMDB0001391", "database": "HMDB Metabolite", "url": "" }, { "id": "000008217042", "database": "ZINC", "url": "" }, { "id": "16955", "database": "ChEBI", "url": "" }, { "id": "C01222", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001346", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0001346", "database": "HMDB Metabolite", "url": "" }, { "id": "C01222", "database": "COMPOUND", "url": "" }, { "id": "16955", "database": "ChEBI", "url": "" }, { "id": "HMDB0001391", "database": "HMDB Metabolite", "url": "" }, { "id": "000008217042", "database": "ZINC", "url": "" }, { "id": "000008217042", "database": "ZINC", "url": "" }, { "id": "HMDB0001391", "database": "HMDB Metabolite", "url": "" }, { "id": "16955", "database": "ChEBI", "url": "" }, { "id": "C01222", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001346", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0001346", "database": "HMDB Metabolite", "url": "" }, { "id": "C01222", "database": "COMPOUND", "url": "" }, { "id": "16955", "database": "ChEBI", "url": "" }, { "id": "HMDB0001391", "database": "HMDB Metabolite", "url": "" }, { "id": "000008217042", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I5ZPV8", "gene_name": "Gmds", "activity": [ { "ec_number": "4.2.1.47", "activity": "GDP-alpha-D-mannose = GDP-4-dehydro-alpha-D-rhamnose + H2O.", "evidence": [ { "id": "A0A8I5ZPV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ] }, { "ec_number": "4.2.1.47", "activity": "", "evidence": [ { "id": "A0A8I5ZPV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZPV8" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }