RASGEF1B
RasGEF Domain Family Member 1B
Gene Information Card
| Symbol | RASGEF1B |
|---|---|
| Full Name | RasGEF domain family member 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 153020 ncbi.nlm.nih.gov/gene/153020 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q6ZWY8 |
| OMIM ID | 614532 |
| HGNC ID | 25607 |
| Aliases | FLJ32658, MGC15606 |
Description
RASGEF1B encodes a member of the RasGEF domain-containing protein family, which functions as a guanine nucleotide exchange factor (GEF) for Ras family small GTPases. The protein is involved in signal transduction pathways regulating cell proliferation, differentiation, and survival. Expression is enriched in brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of Ras signaling in neurons | PMID: 25356899 |
| Autism spectrum disorder | Altered synaptic Ras-GEF activity | PMID: 27824329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal model |
| HEK293 | 3.4 | Low expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function |
| c.782G>A (p.Arg261Gln) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Ras guanyl-nucleotide exchange factor activity |
| • intracellular signal transduction | • regulation of small GTPase mediated signal transduction |
Pathways
• Ras signaling pathway
• MAPK signaling pathway
Protein Summary
RASGEF1B is a 558-amino acid protein containing a RasGEF domain and a RasGEF N-terminal motif. It activates Ras proteins by promoting exchange of GDP for GTP, thereby modulating downstream signaling cascades such as MAPK/ERK. The protein is predominantly expressed in neural tissues and may play a role in neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASGEF1B Knockout HEK293 Cell Line | EDJ-KQ11494 | Human | 153020 | Details Get a Quote |
| RASGEF1B Knockout HeLa Cell Line | EDJ-KQ58720 | Human | 153020 | Details Get a Quote |
| RASGEF1B Knockout A-549 Cell Line | EDJ-KQ67202 | Human | 153020 | Details Get a Quote |
| RASGEF1B Knockout HCT 116 Cell Line | EDJ-KQ75607 | Human | 153020 | Details Get a Quote |
