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This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]
GTPBP1 (GTP Binding Protein 1) is a Protein Coding gene. Diseases associated with GTPBP1 include Ebola Hemorrhagic Fever and Bolivian Hemorrhagic Fever. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GTPBP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0003746 | translation elongation factor activity | IBA | 21873635 |
GO:0003924 | GTPase activity | ISS | -- |
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000177 | cytoplasmic exosome (RNase complex) | IEA,ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA,ISS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006414 | translational elongation | IBA | 21873635 |
GO:0006955 | immune response | TAS | 9070279 |
GO:0007165 | signal transduction | TAS | 9070279 |
GO:0046039 | GTP metabolic process | IEA,ISS | -- |
GO:0061014 | positive regulation of mRNA catabolic process | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GTPBP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GTPBP1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GTPBP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GTPBP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gtpbp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gtpbp1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GTPBP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GTPBP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GTPBP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gtpbp1 30 |
|
||
Str.19499 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14724 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gtpbp1l 31 |
|
OneToMany | |
gtpbp1 30 31 |
|
OneToMany | |||
wufb36e06 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9562 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Dgp-1 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005227 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | cgp-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5638 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09513 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4464 30 |
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
838691 | Uncertain Significance: Emery-Dreifuss muscular dystrophy | 38,736,380(+) |
C/T NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr) |
MISSENSE | |
846154 | Uncertain Significance: Emery-Dreifuss muscular dystrophy | 38,738,174(+) |
T/C NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg) |
MISSENSE | |
rs1264903354 | Uncertain Significance: Emery-Dreifuss muscular dystrophy | 38,736,367(+) |
GC/G NM_015374.3(SUN2):c.2053del (p.Ala685fs) |
FRAMESHIFT | |
rs146141522 | Benign: Emery-Dreifuss muscular dystrophy | 38,738,212(+) |
G/A NM_015374.3(SUN2):c.2001C>T (p.Tyr667=) |
SYNONYMOUS | |
rs150292176 | Uncertain Significance: Emery-Dreifuss muscular dystrophy | 38,736,364(+) |
G/A NM_015374.3(SUN2):c.2057C>T (p.Thr686Met) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4566n100 | CNV | gain | 25217958 |
dgv769n67 | CNV | gain | 20364138 |
esv3647742 | CNV | loss | 21293372 |
esv991516 | CNV | deletion | 20482838 |
nsv1055817 | CNV | loss | 25217958 |
nsv962791 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ebola hemorrhagic fever |
|
|
bolivian hemorrhagic fever |
|
|
venezuelan hemorrhagic fever |
|
|
marburg hemorrhagic fever |
|
|
brazilian hemorrhagic fever |
|
|