IRGM (immunity related GTPase M)

Gene

• Entrez ID: 345611
• Gene name: Immunity related GTPase M
• Gene symbol: IRGM
• Synonyms: IBD19, IFI1, IRGM1, LRG-47, LRG47
• Chromosome: 5
• Chromosome location: 5q33.1
• Summary: This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expressi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs10065172	C>A,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IMP	16888103
GO:0000139	Component	Golgi membrane	IDA	28389568
GO:0000421	Component	Autophagosome membrane	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	28389568
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25891078, 32814053
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	IDA	25891078, 28389568
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	28389568
GO:0005829	Component	Cytosol	IDA	25891078
GO:0006952	Process	Defense response	IBA	21873635
GO:0006954	Process	Inflammatory response	IEA
GO:0010508	Process	Positive regulation of autophagy	IMP	25891078
GO:0010800	Process	Positive regulation of peptidyl-threonine phosphorylation	IMP	25891078
GO:0019901	Function	Protein kinase binding	IPI	25891078
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031648	Process	Protein destabilization	IMP	25891078
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	25891078
GO:0035458	Process	Cellular response to interferon-beta	IBA	21873635
GO:0042742	Process	Defense response to bacterium	IMP	16888103
GO:0042995	Component	Cell projection	IEA
GO:0043254	Process	Regulation of protein-containing complex assembly	IMP	25891078
GO:0043539	Function	Protein serine/threonine kinase activator activity	IMP	28389568
GO:0045087	Process	Innate immune response	IMP	16888103
GO:0050700	Function	CARD domain binding	IMP	25891078
GO:0050821	Process	Protein stabilization	IMP	25891078
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	25891078
GO:0051434	Function	BH3 domain binding	IMP	25891078
GO:0060335	Process	Positive regulation of interferon-gamma-mediated signaling pathway	IMP	16888103
GO:0061635	Process	Regulation of protein complex stability	IMP	25891078
GO:0061739	Process	Protein lipidation involved in autophagosome assembly	IMP	28389568
GO:0061762	Process	CAMKK-AMPK signaling cascade	IMP	25891078
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	25891078
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	25891078
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IMP	28389568
GO:0075044	Process	Positive regulation by symbiont of host autophagy	IMP	16888103, 28389568
GO:0098586	Process	Cellular response to virus	IMP	28389568
GO:1901098	Process	Positive regulation of autophagosome maturation	IMP	16888103

Other IDs

• MIM: 608212
• HGNC: 29597
• e!Ensembl: ENSG00000237693

Protein

• UniProt ID: A1A4Y4
• Protein name: Immunity-related GTPase family M protein (EC 3.6.5.-) (Immunity-related GTPase family M protein 1) (Interferon-inducible protein 1) (LPS-stimulated RAW 264.7 macrophage protein 47 homolog) (LRG-47)
• Protein function: Immunity-related GTPase that plays important roles in innate immunity and inflammatory response (PubMed:16888103, PubMed:19165925, PubMed:25891078). Acts as a dynamin-like protein that binds to intracellular membranes and promotes remodeling and
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05049	IIGP	2 → 181	Interferon-inducible GTPase (IIGP)	Family

• Sequence:

  MEAMNVEKASADGNLPEVISNIKETLKIVSRTPVNITMAGDSGNGMSTFISALRNTGHEG
  KASPPTELVKATQRCASYFSSHFSNVVLWDLPGTGSATTTLENYLMEMQFNRYDFIMVAS
  AQFSMNHVMLAKTAEDMGKKFYIVWTKLDMDLSTGALPEVQLLQIRENVLENLQKERVCE
  Y

• Sequence length: 181

Pathways

KEGG:

NOD-like receptor signaling pathway
Toxoplasmosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21150878
Inflammatory bowel disease	Inflammatory Bowel Diseases, Inflammatory Bowel Disease 19	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908, 26192919, 23128233
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease, Regional enteritis, NON RARE IN EUROPE: Crohn disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	17554300, 17554261, 18438406, 18587394, 19165925, 21102463, 26192919, 21278745, 28067908, 26974007, 17554261, 19165925, 18438406, 21278745
Crohn`s disease of large bowel	Crohn`s disease of large bowel		21278745, 17554261, 19165925, 18438406
Crohn`s disease of the ileum	Crohn`s disease of the ileum		21278745, 18438406, 19165925, 17554261
Ileocolitis	IIeocolitis		17554261, 18438406, 21278745, 19165925
Ulcerative colitis	Ulcerative Colitis		26974007, 20228799, 26192919