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) [1] Band 5q33.1 Start 150,846,521 bp [1] End 150,900,736 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B1.3 Start 58,090,444 bp [2] End 58,113,608 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 345611 54396 Ensembl ENSG00000237693 ENSMUSG00000069874 UniProt A1A4Y4 Q9Z1M2 RefSeq (mRNA) NM_001145805 NM_001346557 NM_019440 RefSeq (protein) NP_001139277 NP_001333486 n/a Location (UCSC) Chr 5: 150.85 – 150.9 Mb Chr 11: 58.09 – 58.11 Mb PubMed search [3] [4]
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. GRCh38: Ensembl release 89: ENSG00000237693 – Ensembl, May 2017
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.
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.
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.

Further reading

• 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. S2CID   36765281.
• 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. S2CID   20861744.
• 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.