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Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]
GBP4 (Guanylate Binding Protein 4) is a Protein Coding gene. Diseases associated with GBP4 include High Pressure Neurological Syndrome and Osteopetrosis, Autosomal Dominant 2. Among its related pathways are Innate Immune System and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GBP7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 21151871 |
GO:0005525 | GTP binding | IBA | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 17266443 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IEA,IDA | -- |
GO:0005829 | cytosol | IDA | 21151871 |
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:0042832 | defense response to protozoan | IBA | 21873635 |
GO:0050830 | defense response to Gram-positive bacterium | IBA | 21873635 |
GO:0071346 | cellular response to interferon-gamma | IBA,IEP | 17266443 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GBP4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gbp3 30 17 31 |
|
ManyToMany | |
Gbp7 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Gbp4 30 |
|
||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
BT.37579 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
GBP4 31 |
|
ManyToMany | |||
GBP6 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496810 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gbp2 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs61738489 | Benign: not provided | 89,191,291(-) |
G/A NM_052941.5(GBP4):c.886C>T (p.Leu296=) |
SYNONYMOUS | |
rs1142886 | - |
p.Met542Ile |
|||
rs1142888 | - |
p.Met545Leu |
|||
rs1142889 | - |
p.Met545Ile |
|||
rs1142890 | - |
p.Glu546Lys |
Disorder | Aliases | PubMed IDs |
---|---|---|
high pressure neurological syndrome |
|
|
osteopetrosis, autosomal dominant 2 |
|
|