RAB13: A Key Regulator of Intracellular Membrane Trafficking and Tight Junction Assembly
Comprehensive genomic and functional analysis of RAB13, a member of the RAS oncogene family involved in vesicular transport and cell polarity.
Gene Information Card
| Symbol | RAB13 |
|---|---|
| Full Name | RAB13, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 5872 ncbi.nlm.nih.gov/gene/5872 |
| Ensembl ID | ENSG00000143546 |
| UniProt ID | P51153 |
| OMIM ID | 602672 |
| HGNC ID | 9766 |
| Aliases | GIG4, RAB13, member RAS oncogene family |
Description
RAB13 is a small GTPase belonging to the RAS superfamily that regulates vesicle-mediated transport and tight junction assembly. It cycles between an active GTP-bound and inactive GDP-bound state, controlling the trafficking of proteins to cell-cell junctions and influencing cell polarity, migration, and proliferation. RAB13 is widely expressed and has been implicated in cancer progression, particularly in promoting invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RAB13 overexpression enhances cell migration and invasion via altered vesicle trafficking and junction disassembly. | COSMIC; PMID: 25691885 |
| Hereditary spastic paraplegia (potential) | Mutations in RAB13 may disrupt axonal transport, leading to neurodegeneration. | ClinVar; PMID: 28492532 |
| Inflammatory bowel disease (IBD) | RAB13 regulates intestinal epithelial barrier integrity; dysregulation contributes to barrier dysfunction. | PMID: 23376921 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.7 | High |
| Colon | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| A549 | 14.2 | Lung adenocarcinoma cell line |
| MCF7 | 11.0 | Breast cancer cell line |
| HepG2 | 7.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.34G>A (p.Gly12Arg) | Missense | <0.1% | Gain-of-function; increased GTP binding |
| c.67C>T (p.Arg23Cys) | Missense | <0.1% | Unknown functional effect |
| c.124A>G (p.Thr42Ala) | Missense | <0.1% | Loss-of-function; reduced GTPase activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair GTP hydrolysis or disrupt membrane localization, leading to defective vesicle trafficking.
Gain of Function (GOF)
Mutations that lock RAB13 in a GTP-bound state, enhancing downstream signaling and promoting cell migration.
Dominant Negative (DN)
Mutations that sequester regulatory factors, inhibiting wild-type RAB13 function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • vesicle-mediated transport |
| • tight junction assembly | • cell-cell junction organization |
| • protein localization to cell junction |
Pathways
• Vesicle-mediated transport
• Tight junction pathway
• RAB regulation of trafficking
• Endocytosis
Protein Summary
RAB13 is a 203-amino-acid small GTPase that localizes to recycling endosomes and the plasma membrane. It regulates the trafficking of junctional proteins such as occludin and claudins to tight junctions, thereby controlling paracellular permeability and cell polarity. RAB13 also modulates cell migration by coordinating the delivery of integrins and other adhesion molecules to the leading edge. Its activity is tightly controlled by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB13 Knockout HEK293 Cell Line | EDJ-KQ50556 | Human | 5872 | Details Get a Quote |
| RAB13 Knockout HeLa Cell Line | EDJ-KQ54286 | Human | 5872 | Details Get a Quote |
| RAB13 Knockout A-549 Cell Line | EDJ-KQ62780 | Human | 5872 | Details Get a Quote |
| RAB13 Knockout HCT 116 Cell Line | EDJ-KQ71247 | Human | 5872 | Details Get a Quote |
