Identity
HGNC
LOCATION
8q13.2
LOCUSID
ALIAS
ARFGEP1,BIG1,P200
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10565
MIM: 604141
HGNC: 15772
Ensembl: ENSG00000066777
Variants:
dbSNP: 10565
ClinVar: 10565
TCGA: ENSG00000066777
COSMIC: ARFGEF1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35048795 | 2022 | The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) axis represses proliferation, invasion, and migration in cervical cancer cells. | 4 |
| 35048795 | 2022 | The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) axis represses proliferation, invasion, and migration in cervical cancer cells. | 4 |
| 34113008 | 2021 | Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. | 7 |
| 34113008 | 2021 | Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. | 7 |
| 32415087 | 2020 | BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis. | 6 |
| 32415087 | 2020 | BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis. | 6 |
| 31199673 | 2019 | Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis. | 8 |
| 31199673 | 2019 | Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis. | 8 |
| 27162341 | 2016 | Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals. | 12 |
| 27373159 | 2016 | Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi. | 17 |
| 27834853 | 2016 | Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor 1 (BIG1) Governs the Recruitment of Tumor Necrosis Factor Receptor-Associated Factor 2 (TRAF2) to Tumor Necrosis Factor Receptor 1 (TNFR1) Signaling Complexes. | 7 |
| 27162341 | 2016 | Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals. | 12 |
| 27373159 | 2016 | Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi. | 17 |
| 27834853 | 2016 | Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor 1 (BIG1) Governs the Recruitment of Tumor Necrosis Factor Receptor-Associated Factor 2 (TRAF2) to Tumor Necrosis Factor Receptor 1 (TNFR1) Signaling Complexes. | 7 |
| 23220274 | 2013 | BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein modulates ATP-binding cassette transporter A-1 trafficking and function. | 11 |
Citation
Dessen P
ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43128/arfgef1-(adp-ribosylation-factor-guanine-nucleotide-exchange-factor-1)
