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The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
AGFG1 (ArfGAP With FG Repeats 1) is a Protein Coding gene. Diseases associated with AGFG1 include Choroideremia and Griscelli Syndrome, Type 2. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is AGFG2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003723 | RNA binding | TAS | 7634337 |
GO:0005096 | GTPase activator activity | IEA | -- |
GO:0005515 | protein binding | IPI | 11545741 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005643 | nuclear pore | TAS | 7637788 |
GO:0005829 | cytosol | TAS | -- |
GO:0031410 | cytoplasmic vesicle | IBA | 21873635 |
GO:0042995 | cell projection | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin-mediated endocytosis | ||
2 | Vesicle-mediated transport |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001675 | acrosome assembly | IEA | -- |
GO:0006406 | mRNA export from nucleus | TAS | 7634337 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0007289 | spermatid nucleus differentiation | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AGFG1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AGFG1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AGFG1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Agfg1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Agfg1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AGFG1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AGFG1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AGFG1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AGFG1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | agfg1 30 |
|
||
Str.10746 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.31956 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | agfg1a 30 31 |
|
OneToMany | |
agfg1b 31 |
|
OneToMany | |||
hrb 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | drongo 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3302833 | CNV | tandem duplication | 20981092 |
esv3594539 | CNV | loss | 21293372 |
nsv834560 | CNV | loss | 17160897 |
nsv834561 | CNV | gain | 17160897 |
nsv953194 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
choroideremia |
|
|
griscelli syndrome, type 2 |
|
|
griscelli syndrome |
|
|
epileptic encephalopathy, early infantile, 16 |
|
|
hermansky-pudlak syndrome |
|