RAP1GDS1 Gene
RAP1, GTP-GDP Dissociation Stimulator 1
Gene Information Card
| Symbol | RAP1GDS1 |
|---|---|
| Full Name | RAP1, GTP-GDP Dissociation Stimulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 5910 ncbi.nlm.nih.gov/gene/5910 |
| Ensembl ID | ENSG00000138698 |
| UniProt ID | P52306 |
| OMIM ID | 179502 |
| HGNC ID | 9858 |
| Aliases | SmgGDS, GDS1, RAP1GDS |
Description
RAP1GDS1 encodes a guanine nucleotide exchange factor (GEF) that stimulates the dissociation of GDP from RAP1A and RAP1B, promoting GTP binding and activation. It plays a role in cell adhesion, migration, and signal transduction. The gene is located on chromosome 4q23 and is associated with various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or mutation leads to aberrant RAP1 activation, promoting tumorigenesis | COSMIC, ClinVar |
| Myelodysplastic syndrome | Gene fusions involving RAP1GDS1 reported | COSMIC |
| Acute myeloid leukemia | RAP1GDS1 rearrangements observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.2 | Medium |
| Lung | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.1 | Medium |
| Testis | 22.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.5 | High expression |
| HeLa | 14.8 | Medium expression |
| A549 | 11.3 | Medium expression |
| K562 | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | Unknown |
| c.1567_1568insA | Frameshift | <0.01% | Loss of function |
| p.Glu345Lys | Missense | 0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate protein, reducing GEF activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase RAP1 activation.
Dominant Negative (DN)
Not reported for RAP1GDS1.
View complete mutation data：
Gene Ontology (GO)
| • guanyl-nucleotide exchange factor activity (GO:0005085) | • small GTPase mediated signal transduction (GO:0007264) |
| • plasma membrane (GO:0005886) | • cytoplasm (GO:0005737) |
Pathways
• RAP1 signaling pathway
• cAMP signaling pathway
• Integrin signaling
Protein Summary
RAP1GDS1 (SmgGDS) is a 558-amino acid protein that functions as a guanine nucleotide exchange factor for RAP1 and other small GTPases. It contains armadillo-like repeats and localizes to the cytoplasm and plasma membrane. The protein regulates cell adhesion, migration, and proliferation. Mutations and overexpression are linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAP1GDS1 Knockout HEK293 Cell Line | EDJ-KQ5633 | Human | 5910 | Details Get a Quote |
| RAP1GDS1 Knockout A-549 Cell Line | EDJ-KQ28954 | Human | 5910 | Details Get a Quote |
| RAP1GDS1 Knockout HCT 116 Cell Line | EDJ-KQ28955 | Human | 5910 | Details Get a Quote |
| RAP1GDS1 Knockout HeLa Cell Line | EDJ-KQ28956 | Human | 5910 | Details Get a Quote |
