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; OMA:IRGM - orthologs
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
	gonad; ; testicle; ; granulocyte; ; Achilles tendon; ; appendix; ; lymph node; ; stromal cell of endometrium; ; blood; ; smooth muscle tissue; ; gallbladder;
	Top expressed in
	mesenteric lymph nodes; ; mucous cell of stomach; ; Paneth cell; ; left lobe of liver; ; lumbar spinal ganglion; ; spleen; ; iris; ; subcutaneous adipose tissue; ; ciliary body; ; blood;
	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 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.

Clinical relevance

Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000237693 – Ensembl, May 2017
^ ^a ^b ^c 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".
^ Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG (May 2010). "Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease". Hum. Mol. Genet. 19 (9): 1828–39. doi:10.1093/hmg/ddq041. PMC 2850616. PMID 20106866.

Laukens D, Georges M, Libioulle C, et al. (2010). "Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis". PLoS ONE. 5 (11): e13795. doi:10.1371/journal.pone.0013795. PMC 2970560. PMID 21072187.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Henckaerts L, Van Steen K, Verstreken I, et al. (2009). "Genetic risk profiling and prediction of disease course in Crohn's disease patients". Clin. Gastroenterol. Hepatol. 7 (9): 972–980.e2. doi:10.1016/j.cgh.2009.05.001. PMID 19422935.
Palomino-Morales RJ; Oliver J; Gómez-GarcÃa M; et al. (2009). "Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach". Genes Immun. 10 (4): 356–64. doi:10.1038/gene.2009.25. PMID 19491842.
Intemann CD, Thye T, Niemann S, et al. (2009). "Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains". PLoS Pathog. 5 (9): e1000577. doi:10.1371/journal.ppat.1000577. PMC 2735778. PMID 19750224.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Che N, Li S, Gao T, et al. (2010). "Identification of a novel IRGM promoter single nucleotide polymorphism associated with tuberculosis". Clin. Chim. Acta. 411 (21–22): 1645–9. doi:10.1016/j.cca.2010.06.009. PMID 20547146.
Craddock N, Hurles ME, et al. (2010). "Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls". Nature. 464 (7289): 713–20. doi:10.1038/nature08979. PMC 2892339. PMID 20360734.
Franke A, McGovern DP, Barrett JC, et al. (2010). "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci". Nat. Genet. 42 (12): 1118–25. doi:10.1038/ng.717. PMC 3299551. PMID 21102463.
Dema B; Fernández-Arquero M; Maluenda C; et al. (2009). "Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease". Hum. Immunol. 70 (11): 946–9. doi:10.1016/j.humimm.2009.08.004. PMID 19683022.
Zhang ZD, Frankish A, Hunt T, et al. (2010). "Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates". Genome Biol. 11 (3): R26. doi:10.1186/gb-2010-11-3-r26. PMC 2864566. PMID 20210993.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Wolfkamp SC, Te Velde AA, Weersma RK, et al. (2010). "Is there a role for Crohn's disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas?". Eur J Gastroenterol Hepatol. 22 (8): 933–7. doi:10.1097/MEG.0b013e32833775e6. PMID 20395867.
Singh SB, Ornatowski W, Vergne I, et al. (2010). "Human IRGM regulates autophagy and cell-autonomous immunity functions through mitochondria". Nat. Cell Biol. 12 (12): 1154–65. doi:10.1038/ncb2119. PMC 2996476. PMID 21102437.
Latiano A, Palmieri O, Corritore G, et al. (2010). "Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease". Inflamm. Bowel Dis. 16 (7): 1108–17. doi:10.1002/ibd.21176. PMID 20024904.
Delgado M, Singh S, De Haro S, et al. (2009). "Autophagy and pattern recognition receptors in innate immunity". Immunol. Rev. 227 (1): 189–202. doi:10.1111/j.1600-065X.2008.00725.x. PMC 2788953. PMID 19120485.
Törkvist L, Halfvarson J, Ong RT, et al. (2010). "Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients". Inflamm. Bowel Dis. 16 (6): 907–9. doi:10.1002/ibd.21105. PMID 19760754.
Budarf ML, Goyette P, Boucher G, et al. (2011). "A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles". Genes Immun. 12 (1): 51–8. doi:10.1038/gene.2010.47. PMID 20962850.
Bekpen C, Xavier RJ, Eichler EE (2010). "Human IRGM gene "to be or not to be"". Semin Immunopathol. 32 (4): 437–44. doi:10.1007/s00281-010-0224-x. PMID 20737271.
Cleynen I, Mahachie John JM, Henckaerts L, et al. (2010). "Molecular reclassification of Crohn's disease by cluster analysis of genetic variants". PLoS ONE. 5 (9): e12952. doi:10.1371/journal.pone.0012952. PMC 2944846. PMID 20886065.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Wagner J, Sim WH, Ellis JA, et al. (2010). "Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort". PLoS ONE. 5 (11): e15376. doi:10.1371/journal.pone.0015376. PMC 2975706. PMID 21079743.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Meggyesi N, Kiss LS, Koszarska M, et al. (2010). "NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients". World J. Gastroenterol. 16 (41): 5233–40. doi:10.3748/wjg.v16.i41.5233. PMC 2975094. PMID 21049557.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

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

[refGRCm38Ensembl-2] 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".

[pmid20106866-6] Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG (May 2010). "Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease". Hum. Mol. Genet. 19 (9): 1828–39. doi:10.1093/hmg/ddq041. PMC 2850616. PMID 20106866.

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v t e 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