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This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]
GBP3 (Guanylate Binding Protein 3) is a Protein Coding gene. Diseases associated with GBP3 include Retinitis Pigmentosa 7. 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 GBP1.
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 | 12387898 |
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 | -- |
GO:0005829 | cytosol | IDA | 21151871 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Interferon gamma signaling | ||
2 | NOD-like receptor signaling pathway | ||
3 | Cytokine Signaling in Immune system | ||
4 | Innate Immune System |
.61
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5 | Calcineurin-regulated NFAT-dependent transcription in lymphocytes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0051607 | defense response to virus | IEA | -- |
GO:0071346 | cellular response to interferon-gamma | IBA | 21873635 |
GO:0071347 | cellular response to interleukin-1 | IEP | 17266443 |
GO:0071356 | cellular response to tumor necrosis factor | IEP | 17266443 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GBP3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Gbp2b 30 17 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | gbp1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10493821 | - |
p.Val469Met |
|||
rs11808228 | - |
p.Val558Ala |
|||
rs17433780 | - |
p.Cys491Arg |
|||
rs3188433 | - |
p.Thr347Ser |
|||
rs4656077 | - |
p.Arg225Trp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv361n54 | CNV | gain | 21841781 |
dgv362n54 | CNV | loss | 21841781 |
dgv363n54 | CNV | loss | 21841781 |
dgv55n67 | CNV | loss | 20364138 |
dgv62e212 | CNV | loss | 25503493 |
esv22437 | CNV | gain | 19812545 |
esv2667765 | CNV | deletion | 23128226 |
esv2714551 | CNV | deletion | 23290073 |
esv2758948 | CNV | gain | 17122850 |
esv3565560 | CNV | deletion | 23714750 |
esv3586751 | CNV | loss | 21293372 |
nsv10361 | CNV | gain | 18304495 |
nsv1071104 | CNV | deletion | 25765185 |
nsv546785 | CNV | loss | 21841781 |
nsv546786 | CNV | loss | 21841781 |
nsv546793 | CNV | loss | 21841781 |
nsv546794 | CNV | loss | 21841781 |
nsv819062 | CNV | gain | 19587683 |
nsv820541 | CNV | deletion | 20802225 |
nsv946055 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 7 |
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