IRGM

IRGM
Identifiers
Aliases	IRGM, IFI1, IRGM1, LRG-47, LRG47, immunity-related GTPase M, immunity related GTPase M
External IDs	OMIM: 608212 MGI: 1926262 HomoloGene: 78363 GeneCards: IRGM
Gene location (Human)
Chr.	Chromosome 5 (human)
End	150,900,736 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	58,113,608 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; appendix; ; lymph node; ; stromal cell of endometrium; ; blood; ; smooth muscle tissue; ; gallbladder; ; spleen; ; gastric mucosa; ; bone marrow;
	Top expressed in
	mucous cell of stomach; ; Paneth cell; ; left lobe of liver; ; spleen; ; iris; ; subcutaneous adipose tissue; ; ciliary body; ; blood; ; jejunum; ; right lung lobe;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; GTP binding; hydrolase activity; protein binding; protein kinase binding; protein serine/threonine kinase activator activity; CARD domain binding; BH3 domain binding; GTPase activity;
Cellular component	phagocytic vesicle membrane; autophagosome membrane; cell projection; phagocytic cup; plasma membrane; membrane; cytoplasmic vesicle; Golgi membrane; mitochondrion; Golgi apparatus; cytosol; endoplasmic reticulum membrane;
Biological process	autophagy; inflammatory response; immune system process; autophagosome assembly; positive regulation of protein phosphorylation; positive regulation of autophagy; positive regulation of peptidyl-threonine phosphorylation; protein destabilization; positive regulation of peptidyl-serine phosphorylation; regulation of protein-containing complex assembly; innate immune response; protein stabilization; defense response to Gram-negative bacterium; positive regulation of interferon-gamma-mediated signaling pathway; regulation of protein complex stability; protein lipidation involved in autophagosome assembly; CAMKK-AMPK signaling cascade; nucleotide-binding oligomerization domain containing 2 signaling pathway; cellular response to lipopolysaccharide; positive regulation of autophagosome maturation; positive regulation of protein serine/threonine kinase activity; defense response; cellular response to interferon-beta;
	Sources:Amigo / QuickGO
Orthologs
	345611
	54396
	ENSG00000237693
	ENSMUSG00000069874
	A1A4Y4
	Q9Z1M2
	NM_001145805; NM_001346557
	NM_019440
	NP_001139277; NP_001333486
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Immunity-related GTPase family M protein (IRGM), also known as interferon-inducible protein 1 (IFI1), is an enzyme that in humans is encoded by the IRGM gene.^[5]

IRGM is a member of the interferon-inducible GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens.

The gene has been disabled by an Alu element for at least 25 million years in the primate lineage leading to great apes including humans, but it was re-enabled by an endogenous retrovirus called ERV-9.^[6]

Clinical relevance

Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000237693 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000069874 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: immunity-related GTPase family".
↑ Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, et al. (March 2009). "Death and resurrection of the human IRGM gene". PLOS Genetics. 5 (3): e1000403. doi:10.1371/journal.pgen.1000403. PMC 2644816. PMID 19266026.
↑ Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, et al. (May 2010). "Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease" (PDF). Human Molecular Genetics. 19 (9): 1828–39. doi:10.1093/hmg/ddq041. PMC 2850616. PMID 20106866.

Laukens D, Georges M, Libioulle C, Sandor C, Mni M, Vander Cruyssen B, et al. (November 2010). "Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis". PLOS ONE. 5 (11): e13795. Bibcode:2010PLoSO...513795L. doi:10.1371/journal.pone.0013795. PMC 2970560. PMID 21072187.
Henckaerts L, Van Steen K, Verstreken I, Cleynen I, Franke A, Schreiber S, et al. (September 2009). "Genetic risk profiling and prediction of disease course in Crohn's disease patients". Clinical Gastroenterology and Hepatology. 7 (9): 972–980.e2. doi:10.1016/j.cgh.2009.05.001. PMID 19422935.
Palomino-Morales RJ, Oliver J, Gómez-García M, López-Nevot MA, Rodrigo L, Nieto A, et al. (June 2009). "Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach". Genes and Immunity. 10 (4): 356–64. doi:10.1038/gene.2009.25. PMID 19491842.
Intemann CD, Thye T, Niemann S, Browne EN, Amanua Chinbuah M, Enimil A, et al. (September 2009). "Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains". PLOS Pathogens. 5 (9): e1000577. doi:10.1371/journal.ppat.1000577. PMC 2735778. PMID 19750224.
Che N, Li S, Gao T, Zhang Z, Han Y, Zhang X, et al. (November 2010). "Identification of a novel IRGM promoter single nucleotide polymorphism associated with tuberculosis". Clinica Chimica Acta; International Journal of Clinical Chemistry. 411 (21–22): 1645–9. doi:10.1016/j.cca.2010.06.009. PMID 20547146.
Dema B, Fernández-Arquero M, Maluenda C, Polanco I, Figueredo MA, de la Concha EG, et al. (November 2009). "Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease". Human Immunology. 70 (11): 946–9. doi:10.1016/j.humimm.2009.08.004. PMID 19683022.
Zhang ZD, Frankish A, Hunt T, Harrow J, Gerstein M (2010). "Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates". Genome Biology. 11 (3): R26. doi:10.1186/gb-2010-11-3-r26. PMC 2864566. PMID 20210993.
Wolfkamp SC, Te Velde AA, Weersma RK, Ponsioen CY, Stokkers PC (August 2010). "Is there a role for Crohn's disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas?". European Journal of Gastroenterology & Hepatology. 22 (8): 933–7. doi:10.1097/MEG.0b013e32833775e6. PMID 20395867. S2CID 20331665.
Singh SB, Ornatowski W, Vergne I, Naylor J, Delgado M, Roberts E, et al. (December 2010). "Human IRGM regulates autophagy and cell-autonomous immunity functions through mitochondria". Nature Cell Biology. 12 (12): 1154–65. doi:10.1038/ncb2119. PMC 2996476. PMID 21102437.
Latiano A, Palmieri O, Corritore G, Valvano MR, Bossa F, Cucchiara S, et al. (July 2010). "Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease". Inflammatory Bowel Diseases. 16 (7): 1108–17. doi:10.1002/ibd.21176. hdl:10533/126913. PMID 20024904. S2CID 34309305.
Delgado M, Singh S, De Haro S, Master S, Ponpuak M, Dinkins C, et al. (January 2009). "Autophagy and pattern recognition receptors in innate immunity". Immunological Reviews. 227 (1): 189–202. doi:10.1111/j.1600-065X.2008.00725.x. PMC 2788953. PMID 19120485.
Törkvist L, Halfvarson J, Ong RT, Lördal M, Sjöqvist U, Bresso F, et al. (June 2010). "Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients". Inflammatory Bowel Diseases. 16 (6): 907–9. doi:10.1002/ibd.21105. PMID 19760754.
Budarf ML, Goyette P, Boucher G, Lian J, Graham RR, Claudio JO, et al. (January 2011). "A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles". Genes and Immunity. 12 (1): 51–8. doi:10.1038/gene.2010.47. PMID 20962850.
Bekpen C, Xavier RJ, Eichler EE (December 2010). "Human IRGM gene "to be or not to be"". Seminars in Immunopathology. 32 (4): 437–44. doi:10.1007/s00281-010-0224-x. PMID 20737271. S2CID 39006249.
Cleynen I, Mahachie John JM, Henckaerts L, Van Moerkercke W, Rutgeerts P, Van Steen K, Vermeire S (September 2010). "Molecular reclassification of Crohn's disease by cluster analysis of genetic variants". PLOS ONE. 5 (9): e12952. Bibcode:2010PLoSO...512952C. doi:10.1371/journal.pone.0012952. PMC 2944846. PMID 20886065.
Wagner J, Sim WH, Ellis JA, Ong EK, Catto-Smith AG, Cameron DJ, et al. (November 2010). "Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort". PLOS ONE. 5 (11): e15376. Bibcode:2010PLoSO...515376W. doi:10.1371/journal.pone.0015376. PMC 2975706. PMID 21079743.
Meggyesi N, Kiss LS, Koszarska M, Bortlik M, Duricova D, Lakatos L, et al. (November 2010). "NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients". World Journal of Gastroenterology. 16 (41): 5233–40. doi:10.3748/wjg.v16.i41.5233. PMC 2975094. PMID 21049557.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000237693 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000069874 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: immunity-related GTPase family".

[6] Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, et al. (March 2009). "Death and resurrection of the human IRGM gene". PLOS Genetics. 5 (3): e1000403. doi:10.1371/journal.pgen.1000403. PMC 2644816. PMID 19266026.

[pmid20106866-7] Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, et al. (May 2010). "Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease" (PDF). Human Molecular Genetics. 19 (9): 1828–39. doi:10.1093/hmg/ddq041. PMC 2850616. PMID 20106866.

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Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

Clinical relevance

References

Further reading