RALB Gene - RALB GTPase
Comprehensive genomic and functional overview of RALB, a RAS-like small GTPase involved in vesicle trafficking, cell proliferation, and oncogenic signaling.
Gene Information Card
| Symbol | RALB |
|---|---|
| Full Name | RAS like proto-oncogene B |
| Gene Type | protein-coding |
| Chromosomal Location | 2q14.2 |
| NCBI Gene ID | 5899 ncbi.nlm.nih.gov/gene/5899 |
| Ensembl ID | ENSG00000144118 |
| UniProt ID | P11234 |
| OMIM ID | 179550 |
| HGNC ID | 9842 |
| Aliases | dJ612B15.1, RAS-like protein B, RalB |
Description
RALB (RAS like proto-oncogene B) encodes a member of the RAS superfamily of small GTPases. The protein cycles between an active GTP-bound and inactive GDP-bound state, regulating vesicle trafficking, exocytosis, cell migration, and proliferation. RALB is frequently activated in various cancers and plays a role in tumorigenesis and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, colorectal, lung, bladder) | Constitutive activation of RALB signaling promotes cell survival and invasion | COSMIC, ClinVar, PMID: 20010870 |
| Neurofibromatosis type 1 (NF1) | NF1 loss leads to RALB hyperactivation via RAS-independent pathways | PMID: 23525020 |
| Intellectual disability (rare) | De novo missense variants in RALB associated with neurodevelopmental phenotypes | ClinVar, PMID: 31036917 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 20.5 | Medium |
| Pancreas | 18.3 | Medium |
| Colon | 15.7 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| A549 | 19.8 | Lung adenocarcinoma cell line |
| PANC-1 | 17.2 | Pancreatic cancer cell line |
| HEK293 | 12.5 | Embryonic kidney cell line |
| MCF7 | 10.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.47G>A (p.Gly16Asp) | Missense | 0.2% (COSMIC) | Gain-of-function; increased GTP binding |
| c.53C>T (p.Ala18Val) | Missense | 0.1% (COSMIC) | Gain-of-function; impaired GTP hydrolysis |
| c.82G>A (p.Glu28Lys) | Missense | 0.05% (COSMIC) | Likely gain-of-function; altered effector interaction |
| c.109C>T (p.Arg37Cys) | Missense | 0.03% (ClinVar) | Uncertain significance; reported in neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in cancer; knockdown studies show reduced proliferation.
Gain of Function (GOF)
Recurrent missense mutations at codons 16, 18, and 28 increase GTP-bound active state, promoting oncogenic signaling.
Dominant Negative (DN)
Engineered mutants (e.g., Ser28Asn) inhibit RALB function but are not naturally observed in disease.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • vesicle-mediated transport |
| • signal transduction | • cell proliferation |
| • regulation of exocytosis | • Ral protein signal transduction |
Pathways
• Ral signaling pathway
• RAS signaling pathway
• Exocyst pathway
• Regulation of actin cytoskeleton
• MAPK signaling (crosstalk)
Protein Summary
RALB is a 206-amino-acid small GTPase (UniProt P11234) with a molecular weight of ~23.5 kDa. It localizes to the plasma membrane and endomembranes via C-terminal prenylation. The protein contains a conserved G domain for nucleotide binding and hydrolysis. Active RALB interacts with effectors such as RALBP1 (RLIP76) and the exocyst complex to regulate vesicle trafficking, cell motility, and survival. RALB is a key mediator of RAS-driven oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RALB Knockout HEK293 Cell Line | EDJ-KQ1249 | Human | 5899 | Details Get a Quote |
| RALBP1 Knockout HEK293 Cell Line | EDJ-KQ1254 | Human | 10928 | Details Get a Quote |
| RALB Knockout HCT 116 Cell Line | EDJ-KQ19262 | Human | 5899 | Details Get a Quote |
| RALBP1 Knockout HeLa Cell Line | EDJ-KQ19277 | Human | 10928 | Details Get a Quote |
| RALB Knockout A-549 Cell Line | EDJ-KQ20620 | Human | 5899 | Details Get a Quote |
| RALB Knockout HeLa Cell Line | EDJ-KQ20622 | Human | 5899 | Details Get a Quote |
| RALBP1 Knockout A-549 Cell Line | EDJ-KQ20634 | Human | 10928 | Details Get a Quote |
| RALBP1 Knockout HCT 116 Cell Line | EDJ-KQ20635 | Human | 10928 | Details Get a Quote |
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