RASAL3: RAS Protein Activator Like 3
A Ras GTPase-activating protein involved in immune cell signaling and hematological malignancies.
Gene Information Card
| Symbol | RASAL3 |
|---|---|
| Full Name | RAS protein activator like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 64926 ncbi.nlm.nih.gov/gene/64926 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q86YV0 |
| OMIM ID | 617954 |
| HGNC ID | 23428 |
| Aliases | MGC12972, RASAL3A |
Description
RASAL3 (RAS protein activator like 3) encodes a member of the Ras GTPase-activating protein (RasGAP) family. The protein contains a C2 domain, a RasGAP domain, and a PH domain, and functions as a negative regulator of Ras signaling by stimulating GTP hydrolysis. RASAL3 is predominantly expressed in hematopoietic cells and plays a role in immune cell activation and differentiation. Mutations and altered expression have been implicated in hematological malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Altered RASAL3 expression may dysregulate Ras signaling, contributing to leukemogenesis. | COSMIC; PMID: 23585546 |
| Chronic lymphocytic leukemia | Reduced RASAL3 expression associated with increased Ras activity. | PMID: 23585546 |
| T-cell acute lymphoblastic leukemia | Potential tumor suppressor role via Ras pathway regulation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.3 | Low |
| Whole blood | 6.1 | Low |
| Thymus | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | Myelogenous leukemia cell line |
| HL-60 (promyeloblast) | 12.7 | Acute promyelocytic leukemia |
| Jurkat (T-cell) | 18.1 | T-cell leukemia |
| Raji (B-cell) | 14.5 | Burkitt lymphoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Unknown; predicted benign |
| c.1789_1790insA (p.Thr597AsnfsTer2) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr597AsnfsTer2) predicted to truncate the RasGAP domain, impairing GTPase activation.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • Ras protein signal transduction (GO:0007265) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) |
Pathways
• Ras signaling pathway (Reactome: R-HSA-5673001)
• Signaling by RAS mutants (Reactome: R-HSA-6802949)
Protein Summary
RASAL3 is a 1003-amino acid protein containing an N-terminal C2 domain, a central RasGAP domain, and a C-terminal PH domain. It acts as a RasGAP, accelerating GTP hydrolysis on Ras proteins, thereby downregulating Ras signaling. The protein is predominantly expressed in hematopoietic tissues and is involved in regulating immune cell function. Loss of RASAL3 function can lead to sustained Ras activation, contributing to oncogenic transformation in hematological malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASAL3 Knockout HEK293 Cell Line | EDJ-KQ1232 | Human | 64926 | Details Get a Quote |
| RASAL3 Knockout HeLa Cell Line | EDJ-KQ57095 | Human | 64926 | Details Get a Quote |
| RASAL3 Knockout A-549 Cell Line | EDJ-KQ65607 | Human | 64926 | Details Get a Quote |
| RASAL3 Knockout HCT 116 Cell Line | EDJ-KQ74035 | Human | 64926 | Details Get a Quote |
