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    IRGM immunity related GTPase M [ Homo sapiens (human) ]

    Gene ID: 345611, updated on 13-Aug-2016
    Official Symbol
    IRGMprovided by HGNC
    Official Full Name
    immunity related GTPase Mprovided by HGNC
    Primary source
    HGNC:HGNC:29597
    See related
    Ensembl:ENSG00000237693 MIM:608212; Vega:OTTHUMG00000163647
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IFI1; IRGM1; LRG47; LRG-47
    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 expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.[provided by RefSeq, Oct 2010]
    Orthologs
    Location:
    5q33.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (150846523..150902402)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150226085..150228231)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene dynactin subunit 4 Neighboring gene small integral membrane protein 3 Neighboring gene zinc finger protein 300 Neighboring gene zinc finger protein 300 pseudogene 1 Neighboring gene zinc finger protein 35 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Generalized epilepsy with febrile seizures plus, type 6
    MedGen: C2677078 OMIM: 612279 GeneReviews: Not available
    not available
    Inflammatory bowel disease 19
    MedGen: C2677079 OMIM: 612278 GeneReviews: Not available
    Compare labs
    Mycobacterium tuberculosis, susceptibility to
    MedGen: C1834752 OMIM: 607948 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Depletion of IRGM reduces HIV-1-increased LC3-II expression. IRGM is involved in HIV-mediated autophagosome accumulation via its interaction with Nef PubMed
    nef Protein/protein interactions of virus/autophagy-associated proteins by yeast two-hybrid array reveals the interaction between HIV-1 Nef and immunity-related GTPase family M protein (IRGM) PubMed

    Go to the HIV-1, Human Interaction Database

    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC149263, MGC149264

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    autophagosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic cup IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    immunity-related GTPase family M protein
    Names
    LPS-stimulated RAW 264.7 macrophage protein 47 homolog
    LRG-47-like protein
    immunity-related GTPase M
    immunity-related GTPase family, M1
    interferon-inducible protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027809.1 RefSeqGene

      Range
      5001..7147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145805.1NP_001139277.1  immunity-related GTPase family M protein

      See identical proteins and their annotated locations for NP_001139277.1

      Status: REVIEWED

      Source sequence(s)
      AC010441
      Consensus CDS
      CCDS47313.1
      UniProtKB/Swiss-Prot
      A1A4Y4
      Related
      ENSP00000428220, OTTHUMP00000224493, ENST00000522154, OTTHUMT00000374648
      Conserved Domains (1) summary
      cl21455
      Location:33180
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      150846523..150902402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537641.2XP_011535943.1  

      Conserved Domains (1) summary
      cl21455
      Location:33179
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      149658892..149661038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)