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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
5
Cytoband
q33.1
Chromosome location (bp)
150846521 - 150900736
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Immunity-related GTPase that plays important roles in innate immunity and inflammatory response 1,2,3. Acts as a dynamin-like protein that binds to intracellular membranes and promotes remodeling and trafficking of those membranes (By similarity). Required for clearance of acute protozoan and bacterial infections by interacting with autophagy and lysosome regulatory proteins, thereby promoting the fusion of phagosomes with lysosomes for efficient degradation of cargo including microbes 4,5,6,7. Regulates selective autophagy, including xenophagy and mitophagy, both directly and indirectly 8,9,10,11. Directly regulates autophagy by acting as a molecular adapter that promotes the coassembly of the core autophagy machinery to mediate antimicrobial defense: IRGM (1) activates AMPK, which in turn phosphorylates ULK1 and BECN1 to induce autophagy, (2) promotes the coassembly of ULK1 and BECN1, enhancing BECN1-interacting partners and (3) influences the composition of the BECN1 complex, by competing with the negative regulators BCL2 and RUBCN, to trigger autophagy 12. Also activates autophagy by promoting recruitment of STX17 to autophagosomes 13. In collaboration with ATG8 proteins, regulate lysosomal biogenesis, a fundamental process for any autophagic pathway, by promoting TFEB dephosphorylation 14. Also modulates autophagy by assisting with autophagosome formation and preventing lysosomal deacidification (By similarity). While activating autophagy, acts as a key negative regulator of the inflammatory and interferon responses both by (1) promoting mitophagy and (2) mediating autophagy-dependent degradation of effectors of the inflammatory response 15,16,17. Promotes degradation of damaged and IFNG/IFN-gamma-stressed mitochondria via mitophagy, preventing cytosolic release of ligands that activate inflammation 18. Acts as a suppressor of inflammation by promoting recruitment of inflammation effectors, such as CGAS, RIGI/RIG-I and NLRP3, to autophagosome membranes, leading to their SQSTM1/p62-dependent autophagic degradation 19,20. Also directly inhibits assembly of the NLRP3 inflammasome by preventing the association between NLRP3 and PYCARD 21. Acts as a negative regulator of antiviral innate immune response by suppressing the RIPK2-dependent pro-inflammatory response: mediates recruitment of RIPosomes, composed of RIPK2 and NOD1 or NOD2, to autophagosome membranes, promoting their SQSTM1/p62-dependent autophagic degradation 22,23....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
GTP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A1A4Y4 [Direct mapping] Immunity-related GTPase family M protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000045[autophagosome assembly] GO:0000139[Golgi membrane] GO:0000166[nucleotide binding] GO:0000421[autophagosome membrane] GO:0001891[phagocytic cup] GO:0001934[positive regulation of protein phosphorylation] GO:0002376[immune system process] GO:0003924[GTPase activity] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005739[mitochondrion] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006914[autophagy] GO:0006952[defense response] GO:0006954[inflammatory response] GO:0010508[positive regulation of autophagy] GO:0010800[positive regulation of peptidyl-threonine phosphorylation] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0019901[protein kinase binding] GO:0030670[phagocytic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0031648[protein destabilization] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0035458[cellular response to interferon-beta] GO:0042742[defense response to bacterium] GO:0042995[cell projection] GO:0043254[regulation of protein-containing complex assembly] GO:0043539[protein serine/threonine kinase activator activity] GO:0045087[innate immune response] GO:0050700[CARD domain binding] GO:0050821[protein stabilization] GO:0050829[defense response to Gram-negative bacterium] GO:0051434[BH3 domain binding] GO:0060335[positive regulation of interferon-gamma-mediated signaling pathway] GO:0061635[regulation of protein complex stability] GO:0061739[protein lipidation involved in autophagosome assembly] GO:0061762[CAMKK-AMPK signaling cascade] GO:0070431[nucleotide-binding oligomerization domain containing 2 signaling pathway] GO:0071222[cellular response to lipopolysaccharide] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0098586[cellular response to virus] GO:1901098[positive regulation of autophagosome maturation]
The Human Protein Atlas project is funded
