IRGM

Immunity-related GTPase family, M

Identifiers

IRGM ; IFI1; IRGM1; LRG-47; LRG47

External IDs

OMIM: 608212 MGI: 107567 HomoloGene: 78363 GeneCards: IRGM Gene

3.6.5.-

Gene ontology
Molecular function	• GTP binding • hydrolase activity
Cellular component	• Golgi membrane • autophagosome membrane • phagocytic cup • phagocytic vesicle membrane • cell projection
Biological process	• autophagy • inflammatory response • innate immune response
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 5:
150.85 – 150.9 Mb

Chr 11:
58.2 – 58.22 Mb

PubMed search

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

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.^[2]

References

↑ "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.
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, GÃ³mez-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.
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, FernÃ¡ndez-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.
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.
TÃ¶rkvist 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.
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.
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.

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

Hydrolases: acid anhydride hydrolases (EC 3.6)

3.6.1

3.6.2

3.6.3-4: ATPase

3.6.3

Cu++ (3.6.3.4)	Menkes/ATP7A Wilson/ATP7B

Ca+ (3.6.3.8)	SERCA ATP2A1 ATP2A2 ATP2A3 Plasma membrane ATP2B1 ATP2B2 ATP2B3 ATP2B4 SPCA ATP2C1 ATP2C2

Na+/K+ (3.6.3.9)	ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP1B4

H+/K+ (3.6.3.10)	ATP4A

Other P-type ATPase	ATP8B1 ATP10A ATP11B ATP12A ATP13A2 ATP13A3

3.6.4

3.6.5: GTPase

3.6.5.1: Heterotrimeric G protein	G_αs G_αi GNAI1 GNAI2 GNAI3 G_αq/11 GNAQ GNA11 G_α12/13 GNA12 GNA13 Transducin GNAT1 GNAT2

3.6.5.2: Small GTPase > Ras superfamily	Rho family of GTPases: Cdc42 CDC42 TC10 TCL RhoUV RhoU RhoV Rac Rac1 2 3 RhoG RhoBTB 1 2 RhoH Rho A B C Rnd 1 2 3 RhoDF RhoF RhoD other: Ras HRAS KRAS NRAS Rab RAB23 RAB27 Arf ARF6 SAR1B ARL13B ARL6 Ran Rheb Rap RGK

3.6.5.3: Protein-synthesizing GTPase	Prokaryotic IF-2 EF-Tu EF-G Eukaryotic

3.6.5.5-6: Polymerization motors	Dynamin Tubulin

Proteins: enzymes

Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis Enzyme kinetics Lineweaver–Burk plot Michaelis–Menten kinetics

Regulation	Allosteric regulation Cooperativity Enzyme inhibitor

Classification	EC number Enzyme superfamily Enzyme family List of enzymes

Types	EC1 Oxidoreductases(list) EC2 Transferases(list) EC3 Hydrolases(list) EC4 Lyases(list) EC5 Isomerases(list) EC6 Ligases(list)

This article is issued from Wikipedia - version of the Wednesday, January 27, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.

IRGM

Clinical relevance

References

Further reading