{ "uniprot_canonical_ac": "Q9CR70-1", "uniprot_ac": "Q9CR70", "uniprot_id": "LAGE3_MOUSE", "mass": { "chemical_mass": 15824.0, "monoisotopic_mass": 15824.0 }, "refseq": { "ac": "NP_079686", "name": "EKC/KEOPS complex subunit Lage3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079686" }, "gene_names": [ { "name": "Lage3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9CR70", "id": "Q9CR70" }, { "name": "1110049G11Rik; Eso3; Itba2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079686", "id": "NP_079686" }, { "name": "Itba2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9CR70", "id": "Q9CR70" }, { "name": "Lage3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079686", "id": "NP_079686" }, { "name": "RP23-436K3.12-002", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9CR70", "id": "Q9CR70" } ], "protein_names": [ { "name": "EKC/KEOPS complex subunit Lage3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9CR70" }, { "name": "EKC/KEOPS complex subunit Lage3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079686", "id": "NP_079686" }, { "name": "ITBA2 protein homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079686", "id": "NP_079686" }, { "name": "ITBA2 protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9CR70" }, { "name": "L antigen family member 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9CR70" } ], "function": [ { "annotation": "Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70#function" }, { "database": "UniProtKB", "id": "Q14657", "url": "https://www.uniprot.org/uniprot/Q14657#function" } ] } ], "disease": [ { "disease_id": "DOID:0080244", "recommended_name": { "id": "DOID:0080244", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080244", "name": "Galloway-Mowat syndrome 2", "description": "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28." }, "synonyms": [ { "id": "MONDO:0033006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033006", "name": "Galloway-Mowat syndrome 2, X-linked", "description": "" }, { "id": "MONDO:0033006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033006", "name": "Galloway-Mowat syndrome 2, X-linked", "description": "" }, { "id": "MONDO:0033006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033006", "name": "Galloway-Mowat syndrome 2, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0033006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033006", "name": "GAMOS2", "description": "" }, { "id": "MONDO:0033006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033006", "name": "Galloway-Mowat syndrome 2", "description": "" }, { "id": "MIM:301006", "resource": "MIM", "url": "https://www.omim.org/entry/301006", "name": "Galloway-Mowat syndrome 2, X-linked", "description": "Galloway-Mowat syndrome 2, X-linked" } ], "evidence": [ { "id": "0080244", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080244" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Lage3", "url": "https://www.uniprot.org/uniprot/Q9CR70", "locus": { "chromosome": "X", "start_pos": 73394882, "end_pos": 73397224, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000015289", "url": "https://www.ensembl.org/id/ENSMUSG00000015289" } ] } } ], "crossref": [ { "id": "ENSMUSG00000015289", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000015289", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "66192", "url": "https://www.ncbi.nlm.nih.gov/gene/66192", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR015419", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015419", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:66192", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:66192", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1913442", "url": "http://www.informatics.jax.org/marker/MGI:1913442", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q9CR70", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CR70", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HMFALSV", "url": "https://omabrowser.org/oma/group/HMFALSV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2947415at2759", "url": "http://www.orthodb.org/?query=2947415at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR31283", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31283", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR31283:SF19", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31283:SF19", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF09341", "url": "http://pfam.xfam.org/family/PF09341", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9CR70", "url": "http://purl.obolibrary.org/obo/PR_Q9CR70", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_079686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079686", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "J3JS94", "url": "https://www.uniprot.org/uniprot/J3JS94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3JS94-1", "url": "https://www.uniprot.org/uniprot/J3JS94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CR70-1", "url": "https://www.uniprot.org/uniprot/Q9CR70-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQTAHTGLSHTADGADGQTSRCCPGNAGTKAVIPSGAHPVARALEASRNSSKSMVPLTQRPGTRHHRFSLFVPFPTSLEAEIACGSLVPDVEPHRGLVGKELKVSGCMLEVRWIAEDSRLLRLSIINFLDQLSLVVNTIQLFGPPVSC", "length": 148, "header": "sp|Q9CR70-1|LAGE3_MOUSE Isoform 1 of EKC/KEOPS complex subunit Lage3 OS=Mus musculus OX=10090 GN=Lage3 PE=2 SV=1 CANONICAL=Q9CR70-1" }, "isoforms": [ { "isoform_ac": "J3JS94-1", "url": "", "sequence": { "sequence": "MQTAHTGLSHTADGADGQTSRCCPGNAGTKAVIPSGAHPVARALEASRNSSKSMVPLTQRPGTRHHRFSLFVPFPTSLEAEIACGSLVPDVEPHRGLVGKELKVSGCMLEV", "length": 111, "header": "tr|J3JS94-1|LAGE3_MOUSE Computationally mapped isoform of EKC/KEOPS complex subunit Lage3 OS=Mus musculus OX=10090 GN=Lage3 PE=2 SV=1 CANONICAL=Q9CR70-1" }, "locus": { "chromosome": "X", "start_pos": 73397133, "end_pos": 73396479, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114153.2", "url": "https://www.ensembl.org/id/ENSMUST00000114153.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000109790.2", "url": "https://www.ensembl.org/id/ENSMUSP00000109790.2" } ] } }, { "isoform_ac": "Q9CR70-1", "url": "", "sequence": { "sequence": "MQTAHTGLSHTADGADGQTSRCCPGNAGTKAVIPSGAHPVARALEASRNSSKSMVPLTQRPGTRHHRFSLFVPFPTSLEAEIACGSLVPDVEPHRGLVGKELKVSGCMLEVRWIAEDSRLLRLSIINFLDQLSLVVNTIQLFGPPVSC", "length": 148, "header": "sp|Q9CR70-1|LAGE3_MOUSE Isoform 1 of EKC/KEOPS complex subunit Lage3 OS=Mus musculus OX=10090 GN=Lage3 PE=2 SV=1 CANONICAL=Q9CR70-1" }, "locus": { "chromosome": "X", "start_pos": 73397133, "end_pos": 73395993, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000015433", "url": "https://www.ensembl.org/id/ENSMUST00000015433" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000015433", "url": "https://www.ensembl.org/id/ENSMUSP00000015433" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9CR70", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CR70" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Changes in metabolic chemical reporter structure yield a selective probe of O-GlcNAc modification.", "journal": "Journal of the American Chemical Society", "date": "2014", "authors": "Chuh KN, Zaro BW, Piller F, Piller V, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9CR70", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CR70" } ], "reference": [ { "type": "PubMed", "id": "25153642", "url": "https://glygen.org/publication/PubMed/25153642" } ] }, { "title": "Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.", "journal": "Nat. Genet.", "date": "2017", "authors": "Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "reference": [ { "type": "PubMed", "id": "28805828", "url": "https://glygen.org/publication/PubMed/28805828" } ] } ], "pathway": [ { "id": "mmu:66192", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:66192", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q14657-1", "protein_name": "EKC/KEOPS complex subunit LAGE3", "gene_name": "LAGE3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MRDADADAGGGADGGDGRGGHSCRGGVDTAAAPAGGAPPAHAPGPGRDAASAARGSRMRPHIFTLSVPFPTPLEAEIAHGSLAPDAEPHQRVVGKDLTVSGRILVVRWKAEDCRLLRISVINFLDQLSLVVRTMQRFGPPVSR", "length": 143 }, "evidence": [ { "id": "45241872", "url": "http://www.informatics.jax.org/homology/45241872", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "pmid": "" }, { "name": "EKC/KEOPS complex", "id": "GO:0000408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000408", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "pmid": "" }, { "name": "tRNA threonylcarbamoyladenosine metabolic process", "id": "GO:0070525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070525", "evidence": [ { "database": "UniProtKB", "id": "Q9CR70", "url": "https://www.uniprot.org/uniprot/Q9CR70" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 49, "end_pos": 51, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }