RAB6A, Member RAS Oncogene Family
A key regulator of intracellular vesicle trafficking and Golgi homeostasis
Gene Information Card
| Symbol | RAB6A |
|---|---|
| Full Name | RAB6A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 5870 ncbi.nlm.nih.gov/gene/5870 |
| Ensembl ID | ENSG00000137776 |
| UniProt ID | P20340 |
| OMIM ID | 179513 |
| HGNC ID | 9786 |
| Aliases | RAB6, RAB6A, RAB6A_v1, RAB6A_v2 |
Description
RAB6A is a small GTPase of the Rab family that regulates retrograde vesicle transport from endosomes to the Golgi apparatus and intra-Golgi trafficking. It cycles between an active GTP-bound and inactive GDP-bound state, controlling membrane tethering, fusion, and cargo sorting. RAB6A is essential for Golgi homeostasis, cytokinesis, and cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB6A expression and mutations disrupt vesicle trafficking, promoting tumor growth and metastasis. | COSMIC; literature |
| Microcephaly (rare) | Loss-of-function variants impair Golgi function and neuronal migration. | ClinVar; OMIM |
| Neurodevelopmental disorders | RAB6A dysfunction affects neurite outgrowth and synaptic vesicle cycling. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 14.1 | Medium |
| Pancreas | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| HEK293 | 16.2 | High expression |
| A549 | 14.0 | Medium expression |
| MCF7 | 12.3 | Medium expression |
| K562 | 10.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.473G>A (p.Arg158Gln) | Missense | <0.01% | Altered GTP binding; potential loss of function |
| c.544C>T (p.Arg182Trp) | Missense | <0.01% | Impaired membrane localization |
| c.617A>G (p.Asn206Ser) | Missense | <0.01% | Reduced GTPase activity |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants affecting GTP binding or hydrolysis (e.g., p.Arg158Gln) reduce RAB6A activity, impairing retrograde transport.
Gain of Function (GOF)
Not well documented; activating mutations in RAB6A are rare and not clearly defined.
Dominant Negative (DN)
Mutations that lock RAB6A in GDP-bound state (e.g., p.Asn206Ser) can act dominant-negatively by sequestering effectors.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • GDP binding | • protein transport |
| • intra-Golgi vesicle-mediated transport | • retrograde transport |
| • endosome to Golgi | • Golgi organization |
| • cell division | • cytokinesis |
Pathways
• Rab regulation of trafficking
• Endosome-to-Golgi retrograde transport
• Golgi-to-ER retrograde transport
• Vesicle-mediated transport
Protein Summary
RAB6A is a 208-amino-acid small GTPase (molecular weight ~23.6 kDa) that localizes to the Golgi apparatus and vesicles. It contains conserved switch I and switch II regions for nucleotide binding and effector interaction. Post-translational geranylgeranylation at its C-terminal CAAX motif anchors it to membranes. RAB6A interacts with effectors such as BICD1, BICD2, and GCC185 to coordinate dynein/dynactin-mediated vesicle movement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB6A Knockout HEK293 Cell Line | EDJ-KQ2934 | Human | 5870 | Details Get a Quote |
| RAB6A Knockout A-549 Cell Line | EDJ-KQ24047 | Human | 5870 | Details Get a Quote |
| RAB6A Knockout HCT 116 Cell Line | EDJ-KQ24048 | Human | 5870 | Details Get a Quote |
| RAB6A Knockout HeLa Cell Line | EDJ-KQ24049 | Human | 5870 | Details Get a Quote |
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