免疫相关GTP酶家族M蛋白

免疫相关GTP酶家族M蛋白
識別號
别名	IRGM；, IFI1, IRGM1, LRG-47, LRG47, immunity-related GTPase M, immunity related GTPase M
外部ID	OMIM：608212 MGI：1926262 HomoloGene：78363 GeneCards：IRGM
相關疾病
inflammatory bowel disease 19
基因位置（人类） 染色体 5號染色體 基因座 5q33.1 起始 150,846,521 bp 终止 150,900,736 bp
基因位置（小鼠） 染色体 小鼠11号染色体 基因座 11|11 B1.3 起始 58,090,444 bp 终止 58,113,608 bp
基因本體 分子功能 • 核苷酸結合 • GTP binding • 水解酶活性 • 血浆蛋白结合 • protein kinase binding • protein serine/threonine kinase activator activity • CARD domain binding • BH3 domain binding • GTPase activity 細胞組分 • phagocytic vesicle membrane • autophagosome membrane • cell projection • phagocytic cup • 细胞膜 • 膜 • cytoplasmic vesicle • Golgi membrane • 線粒體 • 高尔基体 • 细胞质基质 • endoplasmic reticulum membrane 生物學過程 • 自噬 • 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 • 先天免疫系統 • 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
直系同源
物種	人類	小鼠
Entrez	345611	54396
Ensembl	ENSG00000237693	ENSMUSG00000069874
UniProt	A1A4Y4	Q9Z1M2
mRNA​序列	NM_001145805 ​NM_001346557	NM_019440
蛋白序列	NP_001139277 ​NP_001333486	无数据
基因位置​（UCSC）	Chr 5: 150.85 – 150.9 Mb	Chr 11: 58.09 – 58.11 Mb
PubMed​查找
維基數據
檢視/編輯人類 檢視/編輯小鼠

免疫相关GTP酶家族M蛋白（英語：Immunity-related GTPase family M protein，IRGM），亦称为干扰素诱导蛋白1（英語：interferon-inducible protein 1，IFI1），是人体IRGM基因表达的一种酶。

IRGM是干扰素诱导GTP酶家族中的分子量为47kDa的免疫相关鸟苷三磷酸酶（IRGs）成员之一。该基因编码的蛋白可能通过调控对胞内病原体的自噬形成而在先天免疫反应中发挥重要作用。

临床意义

影响该基因表达的多态性位点与克隆氏症和结核病的易感性有关。

深入阅读

• Laukens, Debby; Georges, Michel; Libioulle, Cécile; Sandor, Cynthia; Mni, Myriam; Vander Cruyssen, Bert; Peeters, Harald; Elewaut, Dirk; De Vos, Martine. Timmer, Antje , 编. Evidence for Significant Overlap between Common Risk Variants for Crohn's Disease and Ankylosing Spondylitis. PLoS ONE. 2010-11-02, 5 (11). ISSN 1932-6203. PMC 2970560 . PMID 21072187. doi:10.1371/journal.pone.0013795 （英语）. 
• Henckaerts, Liesbet; Steen, Kristel Van; Verstreken, Isabel; Cleynen, Isabelle; Franke, Andre; Schreiber, Stefan; Rutgeerts, Paul; Vermeire, Séverine. Genetic Risk Profiling and Prediction of Disease Course in Crohn's Disease Patients. Clinical Gastroenterology and Hepatology. 2009-09-01, 7 (9). ISSN 1542-3565. doi:10.1016/j.cgh.2009.05.001 （英语）. 
• Palomino-Morales, R J; Oliver, J; Gómez-García, M; López-Nevot, M A; Rodrigo, L; Nieto, A; Alizadeh, B Z; Martín, J. Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach. Genes & Immunity. 2009-06, 10 (4) [2022-08-28]. ISSN 1466-4879. doi:10.1038/gene.2009.25. （原始内容存档于2022-12-25） （英语）. 
• Intemann, Christopher D.; Thye, Thorsten; Niemann, Stefan; Browne, Edmund N. L.; Amanua Chinbuah, Margaret; Enimil, Anthony; Gyapong, John; Osei, Ivy; Owusu-Dabo, Ellis; Helm, Susanne; Rüsch-Gerdes, Sabine. Bishai, William , 编. Autophagy Gene Variant IRGM −261T Contributes to Protection from Tuberculosis Caused by Mycobacterium tuberculosis but Not by M. africanum Strains. PLoS Pathogens. 2009-09-11, 5 (9). ISSN 1553-7374. PMC 2735778 . PMID 19750224. doi:10.1371/journal.ppat.1000577 （英语）. 
• Che, Nanying; Li, Song; Gao, Tiejie; Zhang, Zhiguo; Han, Yuefei; Zhang, Xuxia; Sun, Yong; Liu, Yi; Sun, Zhaogang; Zhang, Jianyuan; Ren, Weicong. Identification of a novel IRGM promoter single nucleotide polymorphism associated with tuberculosis. Clinica Chimica Acta. 2010-11-11, 411 (21). ISSN 0009-8981. doi:10.1016/j.cca.2010.06.009 （英语）. 
• The Wellcome Trust Case Control Consortium. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 2010-04, 464 (7289) [2022-08-28]. ISSN 0028-0836. PMC 2892339 . PMID 20360734. doi:10.1038/nature08979. （原始内容存档于2023-01-30） （英语）. 
• Franke, Andre; McGovern, Dermot P B; Barrett, Jeffrey C; Wang, Kai; Radford-Smith, Graham L; Ahmad, Tariq; Lees, Charlie W; Balschun, Tobias; Lee, James; Roberts, Rebecca; Anderson, Carl A. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature Genetics. 2010-12, 42 (12) [2022-08-28]. ISSN 1061-4036. PMC 3299551 . PMID 21102463. doi:10.1038/ng.717. （原始内容存档于2023-02-02） （英语）. 
• Dema, Bárbara; Fernández-Arquero, Miguel; Maluenda, Carlos; Polanco, Isabel; Figueredo, M. Ángeles; de la Concha, Emilio G.; Urcelay, Elena; Núñez, Concepción. Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease. Human Immunology. 2009-11-01, 70 (11). ISSN 0198-8859. doi:10.1016/j.humimm.2009.08.004 （英语）. 
• Zhang, Zhengdong D; Frankish, Adam; Hunt, Toby; Harrow, Jennifer; Gerstein, Mark. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. Genome Biology. 2010, 11 (3) [2022-08-28]. ISSN 1465-6906. PMC 2864566 . PMID 20210993. doi:10.1186/gb-2010-11-3-r26. （原始内容存档于2023-02-11） （英语）. 
• Wolfkamp, Simone C.; te Velde, Anje A.; Weersma, Rinse K.; Ponsioen, Cyriel Y.; Stokkers, Pieter C. Is there a role for Crohnʼs disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas?:. European Journal of Gastroenterology & Hepatology. 2010-08, 22 (8). ISSN 0954-691X. doi:10.1097/MEG.0b013e32833775e6 （英语）. 
• Singh, Sudha B.; Ornatowski, Wojciech; Vergne, Isabelle; Naylor, John; Delgado, Monica; Roberts, Esteban; Ponpuak, Marisa; Master, Sharon; Pilli, Manohar; White, Eileen; Komatsu, Masaaki. Human IRGM regulates autophagy and cell-autonomous immunity functions through mitochondria. Nature Cell Biology. 2010-12, 12 (12) [2022-08-28]. ISSN 1465-7392. PMC 2996476 . PMID 21102437. doi:10.1038/ncb2119. （原始内容存档于2023-02-15） （英语）. 
• Latiano, Anna; Palmieri, Orazio; Corritore, Giuseppe; Valvano, Maria Rosa; Bossa, Fabrizio; Cucchiara, Salvatore; Castro, Massimo; Riegler, Gabriele; De Venuto, Domenica; DʼIncà, Renata; Andriulli, Angelo. Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease:. Inflammatory Bowel Diseases. 2010-07, 16 (7) [2022-08-28]. ISSN 1078-0998. doi:10.1002/ibd.21176. （原始内容存档于2023-02-15） （英语）. 
• Delgado, Monica; Singh, Sudha; De Haro, Sergio; Master, Sharon; Ponpuak, Marisa; Dinkins, Christina; Ornatowski, Wojciech; Vergne, Isabelle; Deretic, Vojo. Autophagy and pattern recognition receptors in innate immunity. Immunological Reviews. 2009-01, 227 (1) [2022-08-28]. PMC 2788953 . PMID 19120485. doi:10.1111/j.1600-065X.2008.00725.x. （原始内容存档于2023-02-15） （英语）. 
• Törkvist, Leif; Halfvarson, Jonas; Ong, Rick T.H.; Lördal, Mikael; Sjöqvist, Urban; Bresso, Francesca; Björk, Jan; Befrits, Ragnar; Löfberg, Robert; Blom, Johannes; Carlson, Marie. Analysis of 39 Crohnʼs Disease Risk loci in Swedish Inflammatory Bowel Disease Patients:. Inflammatory Bowel Diseases. 2010-06, 16 (6) [2022-08-28]. ISSN 1078-0998. doi:10.1002/ibd.21105. （原始内容存档于2023-02-15） （英语）. 
• Budarf, M L; Goyette, P; Boucher, G; Lian, J; Graham, R R; Claudio, J O; Hudson, T; Gladman, D; Clarke, A E; Pope, J E; Peschken, C. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. Genes & Immunity. 2011-01, 12 (1) [2022-08-28]. ISSN 1466-4879. doi:10.1038/gene.2010.47. （原始内容存档于2023-02-15） （英语）. 
• Bekpen C, Xavier RJ, Eichler EE. Human IRGM gene "to be or not to be".. Semin Immunopathol. 2010, 32 (4): 437–44. PMID 20737271. doi:10.1007/s00281-010-0224-x. 
• Cleynen, Isabelle; Mahachie John, Jestinah M.; Henckaerts, Liesbet; Van Moerkercke, Wouter; Rutgeerts, Paul; Van Steen, Kristel; Vermeire, Severine. Timmer, Antje , 编. Molecular Reclassification of Crohn's Disease by Cluster Analysis of Genetic Variants. PLoS ONE. 2010-09-23, 5 (9). ISSN 1932-6203. PMC 2944846 . PMID 20886065. doi:10.1371/journal.pone.0012952 （英语）. 
• Wagner, Josef; Sim, Winnie H.; Ellis, Justine A.; Ong, Eng K.; Catto-Smith, Anthony G.; Cameron, Donald J. S.; Bishop, Ruth F.; Kirkwood, Carl D. Bereswill, Stefan , 编. Interaction of Crohn's Disease Susceptibility Genes in an Australian Paediatric Cohort. PLoS ONE. 2010-11-08, 5 (11). ISSN 1932-6203. PMC 2975706 . PMID 21079743. doi:10.1371/journal.pone.0015376 （英语）. 
• Meggyesi N, Kiss LS, Koszarska M, et al. NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients.. World J. Gastroenterol. 2010, 16 (41): 5233–40. PMC 2975094 . PMID 21049557. doi:10.3748/wjg.v16.i41.5233. 

免疫相关GTP酶家族M蛋白引用了美国国家医学图书馆提供的資料，这些資料属于公共领域。