ARFGEF1
ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1
Gene Information Card
| Symbol | ARFGEF1 |
|---|---|
| Full Name | ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 10565 ncbi.nlm.nih.gov/gene/10565 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9Y6D6 |
| OMIM ID | 604141 |
| HGNC ID | 15862 |
| Aliases | BIG1, P200, ARFGEF1A, ARFGEF1B |
Description
ARFGEF1 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1) encodes a guanine nucleotide exchange factor (GEF) that activates ADP-ribosylation factors (ARFs) by exchanging GDP for GTP. The encoded protein, also known as BIG1, is involved in vesicle trafficking, Golgi function, and membrane dynamics. It is inhibited by brefeldin A. Mutations and altered expression of ARFGEF1 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered ARFGEF1 expression may affect ARF-mediated vesicle trafficking, influencing cell proliferation and migration. | COSMIC; NCBI Gene |
| Breast cancer | Overexpression of ARFGEF1 has been observed, potentially contributing to tumor progression via Golgi disruption. | COSMIC; NCBI Gene |
| Neurodevelopmental disorder | Rare variants in ARFGEF1 have been associated with intellectual disability and developmental delay. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Liver | 6.1 | Low |
| Kidney | 7.3 | Medium |
| Testis | 12.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cell line |
| A549 | 6.2 | Lung cancer cell line |
| MCF7 | 11.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2146C>T (p.Arg716Trp) | Missense | <0.1% | Unknown functional effect; reported in ClinVar |
| c.1234G>A (p.Glu412Lys) | Missense | <0.1% | Likely benign |
| c.3457_3458insA | Frameshift | <0.1% | Predicted loss-of-function; associated with neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially impairing vesicle trafficking and Golgi integrity.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for ARFGEF1.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting GEF activity, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Golgi membrane |
| • intracellular protein transport | • vesicle-mediated transport |
| • ARF guanyl-nucleotide exchange factor activity |
Pathways
• ADP-ribosylation factor (ARF) signaling
• Vesicle trafficking
• Golgi-to-ER retrograde transport
Protein Summary
ARFGEF1 encodes BIG1, a large protein (approximately 200 kDa) that localizes to the Golgi apparatus and functions as a guanine nucleotide exchange factor for ARF1 and ARF3. It regulates vesicle budding and membrane trafficking. The protein contains a Sec7 domain responsible for GEF activity and is sensitive to brefeldin A. BIG1 interacts with other trafficking proteins and is essential for maintaining Golgi structure and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARFGEF1 Knockout HEK293 Cell Line | EDC07529 | Human | 10565 | Details Get a Quote |
| ARFGEF1 Knockout A-549 Cell Line | EDJ-KQ31942 | Human | 10565 | Details Get a Quote |
| ARFGEF1 Knockout HCT 116 Cell Line | EDJ-KQ31944 | Human | 10565 | Details Get a Quote |
| ARFGEF1 Knockout HeLa Cell Line | EDJ-KQ31945 | Human | 10565 | Details Get a Quote |
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