Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1)
Homo sapiens — UniProt Q9Y6D6
Data last refreshed: (UniProt release unknown)
Key facts
Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) is a protein from Homo sapiens identified by UniProt accession Q9Y6D6, 1849 residues long. MolForge cross-references it against 0 known binders and 73 disease associations.
- UniProt accession: Q9Y6D6; gene symbol ARFGEF1.
- Organism: Homo sapiens.
- Length: 1849 amino acids.
- Top disease associations (Open Targets): developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, Intellectual disability and Joubert syndrome.
- 3D structure: AlphaFold model available.
Target properties
| Protein name | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 |
|---|---|
| UniProt accession | Q9Y6D6 |
| Gene | ARFGEF1 |
| Organism | Homo sapiens |
| Length | 1849 residues |
| Molecular weight | — |
| EC numbers | — |
| Target class | — |
| Subcellular location | — |
| Keywords | — |
Druggability
Target tractability assessment (Open Targets + pocket analysis). No approved drug
| Druggability tier | MEDIUM |
|---|---|
| Druggability score | — |
| Pocket score | — |
| Max clinical phase | — |
Disease associations (73)
Diseases linked to this target (Open Targets).
- developmental delay, impaired speech, and behavioral abnormalities, with or without seizures · score 0.71
- Intellectual disability · score 0.65
- Joubert syndrome · score 0.55
- Global developmental delay · score 0.53
- Delayed speech and language development · score 0.53
- Atypical behavior · score 0.52
- genetic disorder · score 0.47
- epilepsy · score 0.46
- Seizure · score 0.45
- Neurodevelopmental delay · score 0.38
3D Structure (1)
Experimental (PDB) and predicted (AlphaFold) structures for this protein.
| Structure | Source | Method | Mean pLDDT | Resolution (Å) |
|---|---|---|---|---|
| AF-Q9Y6D6-F1 | alphafold | PREDICTED | 75.42 | — |
Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q9Y6D6.
Amino-acid sequence (1849 residues)
Frequently asked questions
Answers are generated from the structured data on this page, not written by hand.
Which diseases are associated with ARFGEF1?
The strongest Open Targets associations for ARFGEF1 are developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, Intellectual disability, Joubert syndrome, Global developmental delay and Delayed speech and language development.
How long is the ARFGEF1 protein?
The Homo sapiens ARFGEF1 protein (UniProt Q9Y6D6) is 1849 amino acids long.
Browse: Targets: A · all protein targets A–Z · drugs A–Z.
Sources
- UniProtKB Q9Y6D6 — name, gene, function, sequence, keywords (CC BY 4.0)
- AlphaFold DB Q9Y6D6 — predicted 3D structure (CC BY 4.0)
- Open Targets Platform — disease associations and tractability (CC0)
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