Immunity-related GTPase family M protein (IRGM), also known as interferon-inducible protein 1 (IFI1), is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans is ''IRGM''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
IRGM is a member of the
interferon-inducible GTPase family. The encoded protein may play a role in the
innate immune response
The innate, or nonspecific, immune system is one of the two main immunity strategies (the other being the adaptive immune system) in vertebrates. The innate immune system is an older evolutionary defense strategy, relatively speaking, and is th ...
by regulating
autophagy
Autophagy (or autophagocytosis; from the Ancient Greek , , meaning "self-devouring" and , , meaning "hollow") is the natural, conserved degradation of the cell that removes unnecessary or dysfunctional components through a lysosome-dependent re ...
formation in response to intracellular pathogens.
The gene has been disabled by an
Alu element
An Alu element is a short stretch of DNA originally characterized by the action of the '' Arthrobacter luteus (Alu)'' restriction endonuclease. ''Alu'' elements are the most abundant transposable elements, containing over one million copies d ...
for at least 25 million years in the
primate
Primates are a diverse order (biology), order of mammals. They are divided into the Strepsirrhini, strepsirrhines, which include the lemurs, galagos, and lorisids, and the Haplorhini, haplorhines, which include the Tarsiiformes, tarsiers and ...
lineage leading to
great ape
The Hominidae (), whose members are known as the great apes or hominids (), are a taxonomic family of primates that includes eight extant species in four genera: '' Pongo'' (the Bornean, Sumatran and Tapanuli orangutan); ''Gorilla'' (the e ...
s including humans, but it was re-enabled by an
endogenous retrovirus
Endogenous retroviruses (ERVs) are endogenous viral elements in the genome that closely resemble and can be derived from retroviruses. They are abundant in the genomes of jawed vertebrates, and they comprise up to 5–8% of the human genome ( ...
called ERV-9.
Clinical relevance
Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to
Crohn's disease
Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea (which may be bloody if inflammation is severe), fever, abdominal distension, ...
and
tuberculosis
Tuberculosis (TB) is an infectious disease usually caused by ''Mycobacterium tuberculosis'' (MTB) bacteria. Tuberculosis generally affects the lungs, but it can also affect other parts of the body. Most infections show no symptoms, in w ...
.
References
Further reading
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EC 3.6.5
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