{ "uniprot_canonical_ac": "A1A4Y4-1", "sequence": { "header": "sp|A1A4Y4-1|IRGM_HUMAN Isoform 1 of Immunity-related GTPase family M protein OS=Homo sapiens OX=9606 GN=IRGM PE=1 SV=2 CANONICAL=A1A4Y4-1", "length": 181, "sequence": "MEAMNVEKASADGNLPEVISNIKETLKIVSRTPVNITMAGDSGNGMSTFISALRNTGHEGKASPPTELVKATQRCASYFSSHFSNVVLWDLPGTGSATTTLENYLMEMQFNRYDFIMVASAQFSMNHVMLAKTAEDMGKKFYIVWTKLDMDLSTGALPEVQLLQIRENVLENLQKERVCEY" }, "uniprot_id": "IRGM_HUMAN", "enzyme_annotation": [ { "ec": "3.6.5.-", "activity": "" } ], "synonyms": { "protein": { "refseq": [ "immunity-related GTPase family M protein isoform 2", "immunity-related GTPase family, M1; LRG-47-like protein; immunity-related GTPase family M protein; interferon-inducible protein 1; LPS-stimulated RAW 264.7 macrophage protein 47 homolog" ], "uniprotkb": [ "Immunity-related GTPase family M protein", "3.6.5.-", "LPS-stimulated RAW 264.7 macrophage protein 47 homolog", "LRG-47", "Immunity-related GTPase family M protein 1", "Interferon-inducible protein 1" ] }, "gene": { "refseq": [ "IRGM", "IFI1", "IRGM1", "LRG-47", "LRG47" ], "uniprotkb": [ "IRGM", "IFI1", "IRGM1", "LRG47", "LRG-47" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Immunity-related GTPase family M protein; 3.6.5.-; LPS-stimulated RAW 264.7 macrophage protein 47 homolog; LRG-47; Immunity-related GTPase family M protein 1; Interferon-inducible protein 1." }, "publication": [ { "title": "IRGM promotes glioma M2 macrophage polarization through p62/TRAF6/NF-kappaB pathway mediated IL-8 production.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30288851", "journal": "Cell biology international", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ], "authors": "Xu Y, Liao C, Liu R, Liu J, Chen Z, Zhao H, Li Z, Chen L, Wu C, Tan H, Liu W, Li W", "date": "2019", "pmid": "30288851" }, { "title": "The Crohn's Disease Risk Factor IRGM Limits NLRP3 Inflammasome Activation by Impeding Its Assembly and by Mediating Its Selective Autophagy.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30612879", "journal": "Molecular cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ], "authors": "Mehto S, Jena KK, Nath P, Chauhan S, Kolapalli SP, Das SK, Sahoo PK, Jain A, Taylor GA, Chauhan S", "date": "2019", "pmid": "30612879" }, { "title": "Polymorphisms in Autophagy-Related Gene IRGM Are Associated with Susceptibility to Autoimmune Thyroid Diseases.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29992164", "journal": "BioMed research international", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ], "authors": "Yao QM, Zhu YF, Wang W, Song ZY, Shao XQ, Li L, Song RH, An XF, Qin Q, Li Q, Zhang JA", "date": "2018", "pmid": "29992164" }, { "title": "Among autophagy genes, ATG16L1 but not IRGM is associated with Crohn's disease in Iranians.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29960072", "journal": "Gene", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ], "authors": "Teimoori-Toolabi L, Samadpoor S, Mehrtash A, Ghadir M, Vahedi H", "date": "2018", "pmid": "29960072" }, { "title": "A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21278745", "journal": "Nat. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4/publications", "id": "A1A4Y4", "database": "UniProtKB" } ], "authors": "Barbry P., Harel-Bellan A., Souidi M., Brest P., Cesaro A., Darfeuille-Michaud A., Hebuterne X., Hofman P., Lapaquette P., Lebrigand K., Mari B., Mograbi B., Mosnier J.F., Vouret-Craviari V.", "date": "2011", "pmid": "21278745" }, { "title": "Human IRGM gene `to be or not to be`.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20737271", "journal": "Seminars in immunopathology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ], "authors": "Bekpen C, Xavier RJ, Eichler EE", "date": "2010", "pmid": "20737271" }, { "title": "Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19174780", "journal": "Am. J. Gastroenterol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4/publications", "id": "A1A4Y4", "database": "UniProtKB" } ], "authors": "Franke A., Schreiber S., Dijkstra G., Nolte I.M., Weersma R.K., Wijmenga C., Stokkers P.C., Cleynen I., Henckaerts L., Rutgeerts P., Vermeire S., Wolfkamp S.C.", "date": "2009", "pmid": "19174780" }, { "title": "Death and resurrection of the human IRGM gene.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19266026", "journal": "PLoS Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4/publications", "id": "A1A4Y4", "database": "UniProtKB" } ], "authors": "Eichler E.E., Ventura M., Antonacci F., Alkan C., Marques-Bonet T., Bekpen C., Howard J.C., Kidd J.M., Leogrande M.B., Siswara P.", "date": "2009", "pmid": "19266026" }, { "title": "Genome-wide association scanning highlights two autophagy genes, ATG16L1 and IRGM, as being significantly associated with Crohn's disease.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17921695", "journal": "Autophagy", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ], "authors": "Massey DC, Parkes M", "date": "2007", "pmid": "17921695" }, { "title": "Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17554261", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A1A4Y4/publications", "id": "A1A4Y4", "database": "UniProtKB" } ], "authors": "Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC, Cardon L, Mathew CG", "date": "2007", "pmid": "17554261" }, { "title": "Human IRGM induces autophagy to eliminate intracellular mycobacteria.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16888103", "journal": "Science (New York, N.Y.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A1A4Y4/publications", "id": "A1A4Y4", "database": "UniProtKB" } ], "authors": "Singh SB, Davis AS, Taylor GA, Deretic V", "date": "2006", "pmid": "16888103" }, { "title": "The interferon-inducible p47 (IRG) GTPases in vertebrates: loss of the cell autonomous resistance mechanism in the human lineage.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16277747", "journal": "Genome Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4/publications", "id": "A1A4Y4", "database": "UniProtKB" } ], "authors": "Dunn D.M., Leptin M., Bekpen C., Glowalla E., Guethlein L., Howard J.C., Hunn J.P., Parvanova I., Rohde C.", "date": "2005", "pmid": "16277747" }, { "title": "Immune control of tuberculosis by IFN-gamma-inducible LRG-47.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/14576437", "journal": "Science (New York, N.Y.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ], "authors": "MacMicking JD, Taylor GA, McKinney JD", "date": "2003", "pmid": "14576437" } ], "glycosylation": [], "mutation": [ { "start_pos": 141, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4Y4", "id": "A1A4Y4", "database": "BioMuta" } ], "frequency": "2.1", "annotation": "Filters passed (1/5): patient freq. (2.1%).", "sequence_org": "F", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "I", "subjects_tested": "48", "end_pos": 141, "type": "Point mutation" }, { "start_pos": 94, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4Y4", "id": "A1A4Y4", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "T", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "K", "subjects_tested": "66", "end_pos": 94, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4#A1A4Y4-1", "isoform_ac": "A1A4Y4-1", "locus": { "end_pos": 150848124, "start_pos": 150848666, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000522154", "id": "ENST00000522154", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428220", "id": "ENSP00000428220", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A4Y4-1|IRGM_HUMAN Isoform 1 of Immunity-related GTPase family M protein OS=Homo sapiens OX=9606 GN=IRGM PE=1 SV=2 CANONICAL=A1A4Y4-1", "length": 181, "sequence": "MEAMNVEKASADGNLPEVISNIKETLKIVSRTPVNITMAGDSGNGMSTFISALRNTGHEGKASPPTELVKATQRCASYFSSHFSNVVLWDLPGTGSATTTLENYLMEMQFNRYDFIMVASAQFSMNHVMLAKTAEDMGKKFYIVWTKLDMDLSTGALPEVQLLQIRENVLENLQKERVCEY" } }, { "url": "https://www.uniprot.org/uniprot/A1A4Y4#H0YBM2-1", "isoform_ac": "H0YBM2-1", "locus": { "end_pos": 150848497, "start_pos": 150878034, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520549", "id": "ENST00000520549", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429819", "id": "ENSP00000429819", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YBM2-1|IRGM_HUMAN Computationally mapped isoform of Immunity-related GTPase family M protein OS=Homo sapiens OX=9606 GN=IRGM PE=1 SV=1 CANONICAL=A1A4Y4-1", "length": 71, "sequence": "XNHVMLAKTAEDMGKKFYIVWTKLDMDLSTGALPEVQLLQIRENVLENLQKERSSRNQQVYPNHSHVPLAC" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:345611", "resource": "KEGG Pathway", "id": "hsa:345611", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4#function", "annotation": "Putative GTPase which is required for clearance of acute protozoan and bacterial infections. Functions in innate immune response probably through regulation of autophagy. May regulate proinflammatory cytokine production and prevent endotoxemia upon infection. May also play a role in macrophages adhesion and motility (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4#function", "id": "A1A4Y4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "IRGM inhibits NLRP3 inflammasome activation to keep colonic inflammation under check.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "The glioma cells-derived IRGM could regulate IL-8 production and further M2 cells polarization through p62/TRAF6/NF-kappaB pathway and IRGM significantly influenced IL-8, MIP-3alpha, and IL-6 production, which is closely related to M2 macrophage polarization and recruitment.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "The association of ATG16L1 to Crohn's disease in Iranian patients was confirmed while it was shown that the studied polymorphisms in IRGM was not associated with Crohn's disease.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "Study reveals IRGM as a susceptibility gene of AITD and Graves' disease for the first time. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "The unusual evolutionary history of the IRGM locus and the important role of the IRGM gene in autophagy and Crohn's disease in response to pathogenesis. Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "IRGM is significantly associated with Crohn disease.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "Genetic evidence implicates IRGM defects in the early immune response in individuals with Crohn's disease.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "annotation": "Identified a function for IRGM in the control of intracellular pathogens and report that IRGM plays a role in autophagy and in the reduction of intracellular Mycobacterium var. bovis BCG load", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" } ] } ], "orthologs": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "ac": "NP_001139277.1", "name": "immunity-related GTPase family M protein isoform 2; immunity-related GTPase family, M1; LRG-47-like protein; immunity-related GTPase family M protein; interferon-inducible protein 1; LPS-stimulated RAW 264.7 macrophage protein 47 homolog.", "summary": "This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "GTPase activity", "id": "GO:0003924" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "protein kinase binding", "id": "GO:0019901" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051434", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "BH3 domain binding", "id": "GO:0051434" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050700", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "CARD domain binding", "id": "GO:0050700" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "GTP binding", "id": "GO:0005525" } ], "total": 6, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "Golgi membrane", "id": "GO:0000139" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "Golgi apparatus", "id": "GO:0005794" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "autophagosome membrane", "id": "GO:0000421" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "phagocytic cup", "id": "GO:0001891" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "phagocytic vesicle membrane", "id": "GO:0030670" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "cell projection", "id": "GO:0042995" } ], "total": 10, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070431", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "nucleotide-binding oligomerization domain containing 2 signaling pathway", "id": "GO:0070431" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "autophagosome assembly", "id": "GO:0000045" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation of protein phosphorylation", "id": "GO:0001934" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "defense response", "id": "GO:0006952" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010800", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation of peptidyl-threonine phosphorylation", "id": "GO:0010800" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "innate immune response", "id": "GO:0045087" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "defense response to Gram-negative bacterium", "id": "GO:0050829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "cellular response to lipopolysaccharide", "id": "GO:0071222" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "protein stabilization", "id": "GO:0050821" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation of autophagy", "id": "GO:0010508" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061762", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "CAMKK-AMPK signaling cascade", "id": "GO:0061762" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901098", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation of autophagosome maturation", "id": "GO:1901098" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071902", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation of protein serine/threonine kinase activity", "id": "GO:0071902" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061739", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "protein lipidation involved in autophagosome assembly", "id": "GO:0061739" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "defense response to bacterium", "id": "GO:0042742" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "cellular response to interferon-beta", "id": "GO:0035458" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "regulation of protein complex assembly", "id": "GO:0043254" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "cellular response to virus", "id": "GO:0098586" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "protein destabilization", "id": "GO:0031648" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075044", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation by symbiont of host autophagy", "id": "GO:0075044" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075044", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation by symbiont of host autophagy", "id": "GO:0075044" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "regulation of protein complex stability", "id": "GO:0061635" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060335", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "positive regulation of interferon-gamma-mediated signaling pathway", "id": "GO:0060335" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "id": "A1A4Y4", "database": "UniProtKB" } ], "name": "inflammatory response", "id": "GO:0006954" } ], "total": 25, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 37, "annotation": "n_glycosylation_sequon", "start_pos": 35 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277.1", "id": "NP_001139277.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29597", "id": "29597", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A1A4Y4", "id": "A1A4Y4", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A1A4Y4", "id": "NX_A1A4Y4", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRGM", "id": "IRGM", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:345611", "id": "hsa:345611", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/EMQFNQY/", "id": "EMQFNQY", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "id": "IPR027417", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007743", "id": "IPR007743", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR030385", "id": "IPR030385", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF05049", "id": "PF05049", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A1A4Y4", "id": "PR_A1A4Y4", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1A4Y4*", "id": "A1A4Y4", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/345611", "id": "345611", "database": "GeneID" } ], "expression_disease": [ { "trend": "Up", "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/A1A4Y4", "id": "A1A4Y4", "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/A1A4Y4", "id": "A1A4Y4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A4Y4", "id": "A1A4Y4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A4Y4", "id": "A1A4Y4", "database": "BioXpress" } ] }, { "trend": "Up", "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/A1A4Y4", "id": "A1A4Y4", "database": "BioXpress" } ] }, { "trend": "Up", "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/A1A4Y4", "id": "A1A4Y4", "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/A1A4Y4", "id": "A1A4Y4", "database": "BioXpress" } ] } ], "uniprot_ac": "A1A4Y4", "disease": [ { "doid": "0110890", "url": "http://disease-ontology.org/term/DOID:0110890", "icd10": "", "name": "Inflammatory bowel disease 19 [DO disease name]", "evidence": [ { "url": "https://www.omim.org/entry/612278", "id": "612278", "database": "OMIM" } ] } ], "mass": { "monoisotopic_mass": 20142.0, "chemical_mass": 20142.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "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=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "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=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237693", "id": "ENSG00000237693", "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=ENSG00000237693", "id": "ENSG00000237693", "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=ENSG00000237693", "id": "ENSG00000237693", "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=ENSG00000237693", "id": "ENSG00000237693", "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=ENSG00000237693", "id": "ENSG00000237693", "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=ENSG00000237693", "id": "ENSG00000237693", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1A4Y4", "name": "IRGM; IFI1; IRGM1; LRG47; LRG-47.", "locus": { "end_pos": 150900736, "start_pos": 150846523, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000237693", "id": "ENSG00000237693", "database": "Ensembl Gene" } ] } } ] }