Free for academic non-profit institutions. Other users need a Commercial license
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]
GBP5 (Guanylate Binding Protein 5) is a Protein Coding gene. Diseases associated with GBP5 include Chronic Active Epstein-Barr Virus Infection. Among its related pathways are Innate Immune System and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and GTPase activity. An important paralog of this gene is GBP3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 21151871 |
GO:0005525 | GTP binding | IEA,IBA | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 17266443 |
GO:0005794 | Golgi apparatus | IEA,IDA | 17266443 |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0031410 | cytoplasmic vesicle | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Interferon gamma signaling | ||
2 | NOD-like receptor signaling pathway | ||
3 | Cytokine Signaling in Immune system | ||
4 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006954 | inflammatory response | IEA | -- |
GO:0032611 | interleukin-1 beta production | IMP | 22461501 |
GO:0032621 | interleukin-18 production | ISS | -- |
GO:0034067 | protein localization to Golgi apparatus | IDA | 21151871 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GBP5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GBP5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GBP5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gbp5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gbp5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01068209.1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
982609 | Uncertain Significance: Neurodevelopmental disorder | 89,267,076(-) |
G/GAGTC NM_052942.4(GBP5):c.502_505dup (p.Ser169Ter) |
NONSENSE | |
rs386352305 | Uncertain Significance: not provided | 89,260,720(-) |
G/A NM_052942.4(GBP5):c.1745C>T (p.Pro582Leu) |
MISSENSE | |
rs61730934 | Benign: not provided | 89,266,511(-) |
T/C NM_052942.4(GBP5):c.703A>G (p.Ile235Val) |
MISSENSE | |
rs61732483 | Benign: not provided | 89,269,398(-) |
T/A NM_052942.4(GBP5):c.158A>T (p.Tyr53Phe) |
MISSENSE | |
rs17130763 | - |
p.Glu4Gln |
Disorder | Aliases | PubMed IDs |
---|---|---|
chronic active epstein-barr virus infection |
|
|