{ "uniprot_canonical_ac": "A2VDF0-1", "synonyms_protein_refseq": [ "fucose mutarotase isoform 1", "protein fucU homolog" ], "sequence": { "header": "sp|A2VDF0-1|FUCM_HUMAN Isoform 1 of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 154, "sequence": "MVALKGVPALLSPELLYALARMGHGDEIVLADLNFPASSICQCGPMEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" }, "uniprot_id": "FUCM_HUMAN", "synonyms_gene_uniprotkb": [ "FUOM", "C10orf125" ], "enzyme_annotation": [ { "ec": "5.1.3.29", "activity": "Alpha-L-fucose = beta-L-fucose." }, { "ec": "5.1.3.29", "activity": "" } ], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Fucose mutarotase; 5.1.3.29", "short": "" }, "publication": [ { "title": "Characterization and role of fucose mutarotase in mammalian cells.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17602138", "journal": "Glycobiology", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "authors": "Choi D., Ryu K.S., Park D., Kwak J., Park C.", "date": "2007", "pmid": "17602138" }, { "title": "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16385451", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "id": "NP_001091953.1", "database": "RefSeq" } ], "authors": "Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A", "date": "2006", "pmid": "16385451" }, { "title": "Crystal structures and enzyme mechanisms of a dual fucose mutarotase/ribose pyranase.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19524593", "journal": "Journal of molecular biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "id": "NP_001091953.1", "database": "RefSeq" } ], "authors": "Lee KH, Ryu KS, Kim MS, Suh HY, Ku B, Song YL, Ko S, Lee W, Oh BH", "date": "2009", "pmid": "19524593" } ], "uniprot_ac": "A2VDF0", "synonyms_gene_refseq": [ "FUOM", "C10orf125; FucM; FUCU" ], "mutation": [ { "sequence_org": "G", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDF0", "id": "A2VDF0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "S", "start_pos": 106, "end_pos": 106, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "P", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDF0", "id": "A2VDF0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "S", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "L", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDF0", "id": "A2VDF0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "M", "start_pos": 66, "end_pos": 66, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "E", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDF0", "id": "A2VDF0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "*", "start_pos": 134, "end_pos": 134, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "synonyms_protein_uniprotkb": [ "Fucose mutarotase", "5.1.3.29" ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0#X6RK00-1", "isoform_ac": "X6RK00-1", "locus": { "end_pos": 133355373, "start_pos": 133357995, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000447176", "id": "ENST00000447176", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000413379", "id": "ENSP00000413379", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|X6RK00-1|FUCM_HUMAN Computationally mapped isoform of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 127, "sequence": "KGVPALLSPELLYALARMGHGDEIGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" } }, { "url": "https://www.uniprot.org/uniprot/A2VDF0#A2VDF0-2", "isoform_ac": "A2VDF0-2", "locus": { "end_pos": 133355502, "start_pos": 133358007, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000368552", "id": "ENST00000368552", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000357540", "id": "ENSP00000357540", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2VDF0-2|FUCM_HUMAN Isoform 2 of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 134, "sequence": "MVALKGVPALLSPELLYALARMGHGDEIVLADLNFPASSICQCGPMEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGC" } }, { "url": "https://www.uniprot.org/uniprot/A2VDF0#A2VDF0-1", "isoform_ac": "A2VDF0-1", "locus": { "end_pos": 133355373, "start_pos": 133358007, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000278025", "id": "ENST00000278025", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000278025", "id": "ENSP00000278025", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2VDF0-1|FUCM_HUMAN Isoform 1 of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 154, "sequence": "MVALKGVPALLSPELLYALARMGHGDEIVLADLNFPASSICQCGPMEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" } }, { "url": "https://www.uniprot.org/uniprot/A2VDF0#X6R6T9-1", "isoform_ac": "X6R6T9-1", "locus": { "end_pos": 133355373, "start_pos": 133357205, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000368551", "id": "ENST00000368551", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000357539", "id": "ENSP00000357539", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|X6R6T9-1|FUCM_HUMAN Computationally mapped isoform of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=1 CANONICAL=A2VDF0-1", "length": 109, "sequence": "MEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787639", "resource": "Reactome", "id": "R-HSA-6787639", "name": "GDP-fucose biosynthesis" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:282969", "resource": "KEGG Pathway", "id": "hsa:282969", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0#function", "annotation": "Involved in the interconversion between alpha- and beta-L-fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O-glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition processes.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0#function", "id": "A2VDF0", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "id": "NP_001091953.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4ACG8-1", "protein_name": "Fucose mutarotase-like; Similar to RIKEN cDNA 1810014F10 gene (Predicted), isoform CRA_e", "sequence": { "length": 153, "sequence": "MVVLKGIPTVLSPELLFALARMGHGDEIVLADANFPTSSICQCGPIEIRADGLDIPQLLEAVLKLLPLDTYVESPAAVMDLVPSDKEKGLQTPIWDHYEYLLLKADCKKALRKIERFEFYERAKKAFAVVATGEMALYGNIILKKGTLDLGPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19598", "id": "19598", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/Q8R2K1/", "id": "Q8R2K1", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8R2K1-1", "protein_name": "Fucose mutarotase; 5.1.3.29", "sequence": { "length": 153, "sequence": "MVALKGIPKVLSPELLFALARMGHGDEIVLADANFPTSSICQCGPVEIRADGLDIPQLLEAVLRLLPLDTYVESPAAVMDLVPSDKEKGLQTPIWKRYESLLLEADCKKTLMKLERFEFYERAKKAFAVVATGEMALYGNIILKKGTLDLGPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19598", "id": "19598", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/D4ACG8/", "id": "D4ACG8", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "ac": "NP_001091953.1", "name": "fucose mutarotase isoform 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042806", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "fucose binding", "id": "GO:0042806" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016857", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "racemase and epimerase activity, acting on carbohydrates and derivatives", "id": "GO:0016857" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036373", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "L-fucose mutarotase activity", "id": "GO:0036373" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036065", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "fucosylation", "id": "GO:0036065" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060180", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "female mating behavior", "id": "GO:0060180" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "negative regulation of neuron differentiation", "id": "GO:0045665" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006004", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "fucose metabolic process", "id": "GO:0006004" } ], "total": 4, "name": "Biological Process" } ] }, "site_annotation": [], "crossref": [ { "url": "https://pharos.nih.gov/targets/A2VDF0", "id": "A2VDF0", "database": "PHAROS" }, { "url": "http://pfam.xfam.org/family/PF05025", "id": "PF05025", "database": "Pfam" }, { "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=5.1.3.29&UniProtAcc=A2VDF0", "id": "5.1.3.29", "database": "BRENDA" }, { "url": "https://www.nextprot.org/entry/NX_A2VDF0", "id": "NX_A2VDF0", "database": "neXtProt" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24733", "id": "24733", "database": "HGNC" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/282969", "id": "282969", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR023750", "id": "IPR023750", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2VDF0*", "id": "A2VDF0", "database": "IntAct" }, { "url": "https://omabrowser.org/oma/group/MEVVGDP/", "id": "MEVVGDP", "database": "OMA" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148803", "id": "ENSG00000148803", "database": "Bgee" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:282969", "id": "hsa:282969", "database": "KEGG Pathway" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007721", "id": "IPR007721", "database": "InterPro" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2VDF0", "id": "PR_A2VDF0", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787639", "id": "R-HSA-6787639", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "id": "NP_001091953.1", "database": "RefSeq" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUOM", "id": "FUOM", "database": "GeneCards" } ], "expression_disease": [ { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "Lung squamous cell carcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDF0", "id": "A2VDF0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Prostate cancer [DO disease name]", "trend": "Up", "icd10": "C61", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDF0", "id": "A2VDF0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "icd10": "C73", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDF0", "id": "A2VDF0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "icd10": "C67", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDF0", "id": "A2VDF0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "icd10": "C22.0", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDF0", "id": "A2VDF0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "icd10": "C15.3", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDF0", "id": "A2VDF0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDF0", "id": "A2VDF0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" } ], "glycosylation": [], "disease": [], "mass": { "monoisotopic_mass": 16765.0, "chemical_mass": 16765.0 }, "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=ENSG00000148803", "id": "ENSG00000148803", "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=ENSG00000148803", "id": "ENSG00000148803", "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=ENSG00000148803", "id": "ENSG00000148803", "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=ENSG00000148803", "id": "ENSG00000148803", "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=ENSG00000148803", "id": "ENSG00000148803", "database": "Bgee" } ] }, { "tissue": { "url": 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