AGFG1
ArfGAP With FG Repeats 1
Gene Information Card
| Symbol | AGFG1 |
|---|---|
| Full Name | ArfGAP With FG Repeats 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 3267 ncbi.nlm.nih.gov/gene/3267 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | P52594 |
| OMIM ID | 601830 |
| HGNC ID | 16998 |
| Aliases | HRB, RAB, nucleoporin-like protein, HIV-1 Rev binding protein |
Description
AGFG1 (ArfGAP With FG Repeats 1) encodes a protein that contains FG (phenylalanine-glycine) repeats characteristic of nucleoporins and an ArfGAP domain. It functions as a component of the nuclear pore complex, facilitating nucleocytoplasmic transport, and is known to bind the HIV-1 Rev protein, playing a role in viral RNA export. The gene is located on chromosome 2q11.2 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HIV-1 infection | AGFG1 binds HIV-1 Rev protein, mediating nuclear export of viral RNA | PMID: 8626575 |
| Cancer (general) | Altered expression linked to tumor progression; specific mechanisms under investigation | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Low |
| Brain | 6.5 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| A549 | 6.3 | Lung carcinoma |
| K562 | 5.0 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.567_568insA | frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations predicted to truncate the protein, impairing nuclear transport function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • ArfGAP activity | • protein binding |
| • RNA export from nucleus |
Pathways
• HIV-1 Rev-mediated nuclear export
• Nuclear pore complex assembly
Protein Summary
The AGFG1 protein (UniProt P52594) is a 563-amino acid nucleoporin with an N-terminal ArfGAP domain and C-terminal FG repeats. It localizes to the nuclear pore complex and mediates the nuclear export of HIV-1 Rev-bound RNA. The protein also interacts with small GTPases and is involved in cellular trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGFG1 Knockout HEK293 Cell Line | EDJ-KQ4935 | Human | 3267 | Details Get a Quote |
| AGFG1 Knockout A-549 Cell Line | EDJ-KQ26565 | Human | 3267 | Details Get a Quote |
| AGFG1 Knockout HCT 116 Cell Line | EDJ-KQ27777 | Human | 3267 | Details Get a Quote |
| AGFG1 Knockout HeLa Cell Line | EDJ-KQ27778 | Human | 3267 | Details Get a Quote |
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