RAB8A
RAB8A, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB8A |
|---|---|
| Full Name | RAB8A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 4218 ncbi.nlm.nih.gov/gene/4218 |
| Ensembl ID | ENSG00000167461 |
| UniProt ID | P61006 |
| OMIM ID | 165040 |
| HGNC ID | 9788 |
| Aliases | MEL, RAB8, RAB-8, oncogene c-mel |
Description
RAB8A is a small GTPase of the RAS superfamily that regulates intracellular vesicle trafficking, particularly from the trans-Golgi network to the plasma membrane. It plays critical roles in ciliogenesis, cell polarity, and exocytosis. Mutations in RAB8A are associated with microvillus inclusion disease and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microvillus inclusion disease (MVID) | Loss-of-function mutations disrupt apical vesicle trafficking in enterocytes, leading to severe diarrhea | PMID: 24726755 |
| Colorectal cancer | Overexpression and altered localization promote tumor cell migration and invasion | PMID: 25605247 |
| Breast cancer | RAB8A upregulation correlates with poor prognosis and enhanced metastasis | PMID: 29065170 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Medium |
| Small intestine | 12.4 | High |
| Colon | 11.0 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| A549 | 9.7 | Lung cancer cell line |
| HCT116 | 13.1 | Colorectal cancer cell line |
| MCF7 | 8.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.27G>A (p.Trp9*) | Nonsense | <0.1% | Loss of function; associated with MVID |
| c.485A>G (p.Asn162Ser) | Missense | <0.1% | Impaired GTP binding; reduced ciliogenesis |
| c.724C>T (p.Arg242Trp) | Missense | <0.1% | Altered vesicle trafficking |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair GTP binding or disrupt protein stability lead to loss of function, as seen in microvillus inclusion disease.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function effects via enhanced cell motility.
Dominant Negative (DN)
Some missense variants (e.g., Asn162Ser) may act in a dominant-negative manner by sequestering downstream effectors.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • vesicle-mediated transport |
| • cilium assembly | • regulation of exocytosis |
| • protein localization to plasma membrane |
Pathways
• RAB8A regulates ciliogenesis and vesicle trafficking
• RAB8A in endocytic recycling
• RAB8A in polarized exocytosis
Protein Summary
RAB8A is a 207-amino-acid small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to the Golgi apparatus, recycling endosomes, and the plasma membrane. RAB8A interacts with effectors such as optineurin and myosin Vb to facilitate vesicle docking and fusion. It is essential for primary cilium formation and maintenance of epithelial polarity. Dysregulation contributes to enterocyte dysfunction in MVID and metastatic progression in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB8A Knockout HEK293 Cell Line | EDJ-KQ1185 | Human | 4218 | Details Get a Quote |
| RAB8A Knockout A-549 Cell Line | EDJ-KQ21770 | Human | 4218 | Details Get a Quote |
| RAB8A Knockout HCT 116 Cell Line | EDJ-KQ21772 | Human | 4218 | Details Get a Quote |
| RAB8A Knockout HeLa Cell Line | EDJ-KQ21773 | Human | 4218 | Details Get a Quote |
| RAB8A Knockout HAP1 Cell Line | EDC07893 | Human | 4218 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
