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Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
GBP6 (Guanylate Binding Protein Family Member 6) is a Protein Coding gene. 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 GBP4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IBA | 21873635 |
GO:0005525 | GTP binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031410 | cytoplasmic vesicle | IBA | 21873635 |
GO:0070062 | extracellular exosome | HDA | 19199708 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Interferon gamma signaling | ||
2 | Cytokine Signaling in Immune system | ||
3 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006955 | immune response | ISS | -- |
GO:0042742 | defense response to bacterium | ISS | -- |
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,ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GBP6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GBP7 30 |
|
||
-- 31 |
|
OneToMany | |||
GBP6 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | GBP6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mpa2l 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gbp6 30 17 31 |
|
OneToMany | |
Gbp11 17 31 31 |
|
OneToMany | |||
Gbp8 31 |
|
OneToMany | |||
Gbp10 17 31 |
|
OneToMany | |||
Gbp9 17 31 |
|
OneToMany | |||
Gbp4 17 31 |
|
OneToMany | |||
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 | LOC100489592 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gbp3 30 |
|
||
CABZ01068208.1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113532469 | Benign: not provided | 89,382,793(+) |
G/T NM_198460.3(GBP6):c.1282G>T (p.Val428Phe) |
MISSENSE | |
rs113658121 | Benign: not provided | 89,380,426(+) |
G/A NM_198460.3(GBP6):c.666G>A (p.Glu222=) |
SYNONYMOUS | |
rs116173091 | Benign: not provided | 89,383,697(+) |
G/A NM_198460.3(GBP6):c.1411G>A (p.Glu471Lys) |
MISSENSE | |
rs76159539 | Benign: not provided | 89,385,284(+) |
G/A NM_198460.3(GBP6):c.1717G>A (p.Ala573Thr) |
MISSENSE | |
rs4582772 | - |
p.Thr278Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3586760 | CNV | gain | 21293372 |
esv3586763 | CNV | gain | 21293372 |
nsv1078569 | CNV | deletion | 25765185 |
nsv1142762 | CNV | deletion | 24896259 |
No disorders were found for GBP6 Gene.