Human Gene GBP5 (uc001dnd.3) Description and Page Index
Description: Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 2, mRNA. RefSeq Summary (NM_001134486): This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]. Transcript (Including UTRs) Position: hg19 chr1:89,724,634-89,738,544 Size: 13,911 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr1:89,726,387-89,735,238 Size: 8,852 Coding Exon Count: 10
ID:GBP5_HUMAN DESCRIPTION: RecName: Full=Guanylate-binding protein 5; AltName: Full=GBP-TA antigen; AltName: Full=GTP-binding protein 5; Short=GBP-5; AltName: Full=Guanine nucleotide-binding protein 5; Flags: Precursor; FUNCTION: Stimulates the NLRP3 inflammasome assembly upon bacterial challenge. SUBUNIT: Homotetramer when interacting with NLRP3 (By similarity). Homodimerizes upon GTP-binding, dimerization is required for the second hydrolysis step from GDP to GMP. Can also heterodimerize with other members of the family. Homotetramer when interacting with NLRP3. SUBCELLULAR LOCATION: Cytoplasm. Membrane; Lipid-anchor. INDUCTION: By interferon gamma during macrophage activation. SIMILARITY: Belongs to the GBP family.
Genetic Association Studies of Complex Diseases and Disorders
Heart Diseases Martin G Larson et al. BMC medical genetics 2007, Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes., BMC medical genetics.
No association attained genome-wide significance, but several intriguing findings emerged. Notably, we replicated associations of chromosome 9p21 with major CVD. Additional studies are needed to validate these results. Finding genetic variants associated with CVD may point to novel disease pathways and identify potential targeted preventive therapies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96PP8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002376 immune system process GO:0006954 inflammatory response GO:0034067 protein localization to Golgi apparatus GO:0045089 positive regulation of innate immune response GO:0050702 interleukin-1 beta secretion GO:0051289 protein homotetramerization GO:0071346 cellular response to interferon-gamma GO:0072616 interleukin-18 secretion GO:1900017 positive regulation of cytokine production involved in inflammatory response GO:1900227 positive regulation of NLRP3 inflammasome complex assembly