RAB1A
RAB1A, member RAS oncogene family
Gene Information Card
| Symbol | RAB1A |
|---|---|
| Full Name | RAB1A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 2p14 |
| NCBI Gene ID | 5861 ncbi.nlm.nih.gov/gene/5861 |
| Ensembl ID | ENSG00000138069 |
| UniProt ID | P62820 |
| OMIM ID | 179508 |
| HGNC ID | 9758 |
| Aliases | RAB1, YPT1 |
Description
RAB1A is a small GTPase of the Rab family that regulates vesicle trafficking from the endoplasmic reticulum to the Golgi apparatus. It cycles between an active GTP-bound and inactive GDP-bound state, controlling membrane tethering and fusion. RAB1A is essential for autophagy, cell growth, and intracellular transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | RAB1A overexpression promotes tumor growth and metastasis via enhanced vesicular transport and signaling | COSMIC, PubMed |
| Neurodegenerative disorders | Dysregulation of RAB1A impairs autophagy and protein trafficking, linked to Parkinson's and Alzheimer's | PubMed |
| Infectious diseases | Pathogens like Legionella and Chlamydia hijack RAB1A to establish replication vacuoles | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.2 | Medium |
| Pancreas | 18.7 | High |
| Kidney | 10.3 | Medium |
| Lung | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.1 | Cervical cancer cell line |
| HEK293 | 13.5 | Embryonic kidney cells |
| A549 | 11.2 | Lung carcinoma cells |
| MCF7 | 10.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83G>A (p.Arg28His) | Missense | <0.01% | Altered GTP binding; potential loss of function |
| c.205C>T (p.Arg69Cys) | Missense | <0.01% | Impaired membrane localization |
| c.340G>A (p.Glu114Lys) | Missense | <0.01% | Reduced GTPase activity |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing GTP binding or hydrolysis reduce RAB1A activity, disrupting ER-to-Golgi transport.
Gain of Function (GOF)
Overexpression or activating mutations (rare) enhance vesicle trafficking and may promote oncogenesis.
Dominant Negative (DN)
Mutants that lock RAB1A in GDP-bound state inhibit endogenous RAB1A function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • ER to Golgi vesicle-mediated transport | • autophagy |
| • intracellular protein transport | • GDP binding |
Pathways
• Vesicle-mediated transport
• Autophagy
• RAB1A regulation of ER-to-Golgi traffic
• Legionella infection
Protein Summary
RAB1A is a 22 kDa GTPase that localizes to the Golgi and ER-Golgi intermediate compartment. It interacts with effectors such as p115, GM130, and MICALs to tether vesicles. Post-translational prenylation at the C-terminus is required for membrane association. RAB1A also regulates autophagosome formation by controlling ATG9 trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB1A Knockout HEK293 Cell Line | EDJ-KQ2382 | Human | 5861 | Details Get a Quote |
| RAB1A Knockout A-549 Cell Line | EDJ-KQ22857 | Human | 5861 | Details Get a Quote |
| RAB1A Knockout HCT 116 Cell Line | EDJ-KQ22858 | Human | 5861 | Details Get a Quote |
| RAB1A Knockout HeLa Cell Line | EDJ-KQ22859 | Human | 5861 | Details Get a Quote |
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