IRGM

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IRGM
Identifiers
AliasesIRGM, IFI1, IRGM1, LRG-47, LRG47, immunity-related GTPase M, immunity related GTPase M
External IDsOMIM: 608212 MGI: 1926262 HomoloGene: 78363 GeneCards: IRGM
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145805
NM_001346557

NM_019440

RefSeq (protein)

NP_001139277
NP_001333486

n/a

Location (UCSC)Chr 5: 150.85 – 150.9 MbChr 11: 58.09 – 58.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000237693 - Ensembl, May 2017
  2. ^ a b c 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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.