免疫相關GTP酶家族M蛋白

免疫相關GTP酶家族M蛋白
識別號
別名	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（人類）
染色體	5號染色體
終止	150,900,736 bp
基因位置（小鼠）
染色體	小鼠11號染色體
終止	58,113,608 bp
基因本體
分子功能	• 核苷酸結合; • GTP binding; • 水解酶活性; • 血漿蛋白結合; • 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; • 細胞膜; • 膜; • cytoplasmic vesicle; • Golgi membrane; • 粒線體; • 高基氏體; • 細胞質基質; • 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
	345611
	54396
	ENSG00000237693
	ENSMUSG00000069874
	A1A4Y4
	Q9Z1M2
	NM_001145805; NM_001346557
	NM_019440
	NP_001139277; NP_001333486
	無資料
	維基資料
檢視/編輯人類	檢視/編輯小鼠

免疫相關GTP酶家族M蛋白（英語：Immunity-related GTPase family M protein，IRGM），亦稱為干擾素誘導蛋白1（英語：interferon-inducible protein 1，IFI1），是人體IRGM基因表現的一種酶^[6]。

IRGM是干擾素誘導GTP酶家族中的分子量為47kDa的免疫相關鳥苷三磷酸酶（英語：IRGs）（IRGs）成員之一。該基因編碼的蛋白可能通過調控對胞內病原體的自噬形成而在先天免疫反應中發揮重要作用。

臨床意義[編輯]

影響該基因表現的多態性位點與克隆氏症和結核病的易感性有關^[7]。

參考文獻[編輯]

^ 與免疫相关GTP酶家族M蛋白相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000237693 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 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. （原始內容存檔於2009-08-09）.
^ Prescott, Natalie J.; Dominy, Katherine M.; Kubo, Michiaki; Lewis, Cathryn M.; Fisher, Sheila A.; Redon, Richard; Huang, Ni; Stranger, Barbara E.; Blaszczyk, Katarzyna; Hudspith, Barry; Parkes, Gareth. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Human Molecular Genetics. 2010-05-01, 19 (9) [2022-08-28]. ISSN 1460-2083. PMC 2850616 . PMID 20106866. doi:10.1093/hmg/ddq041. （原始內容存檔於2023-01-18）（英語）.

深入閱讀[編輯]

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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 （英語）.
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. （原始內容存檔於2022-12-25）（英語）.
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 , 編. 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 （英語）.
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 （英語）.
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. （原始內容存檔於2023-01-30）（英語）.
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. （原始內容存檔於2023-02-02）（英語）.
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 （英語）.
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. （原始內容存檔於2023-02-11）（英語）.
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 （英語）.
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. （原始內容存檔於2023-02-15）（英語）.
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. （原始內容存檔於2023-02-15）（英語）.
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. （原始內容存檔於2023-02-15）（英語）.
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. （原始內容存檔於2023-02-15）（英語）.
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Cleynen, Isabelle; Mahachie John, Jestinah M.; Henckaerts, Liesbet; Van Moerkercke, Wouter; Rutgeerts, Paul; Van Steen, Kristel; Vermeire, Severine. Timmer, Antje , 編. 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 （英語）.
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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.

免疫相關GTP酶家族M蛋白引用了美國國家醫學圖書館提供的資料，這些資料屬於公共領域。

[1] 與免疫相关GTP酶家族M蛋白相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000237693 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000069874 - Ensembl, May 2017

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

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

[entrez-6] Entrez Gene: immunity-related GTPase family. （原始內容存檔於2009-08-09）.

[pmid20106866-7] Prescott, Natalie J.; Dominy, Katherine M.; Kubo, Michiaki; Lewis, Cathryn M.; Fisher, Sheila A.; Redon, Richard; Huang, Ni; Stranger, Barbara E.; Blaszczyk, Katarzyna; Hudspith, Barry; Parkes, Gareth. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Human Molecular Genetics. 2010-05-01, 19 (9) [2022-08-28]. ISSN 1460-2083. PMC 2850616 . PMID 20106866. doi:10.1093/hmg/ddq041. （原始內容存檔於2023-01-18）（英語）.

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