RAB1B
Member of the RAS oncogene family, involved in vesicle trafficking and autophagy
Gene Information Card
| Symbol | RAB1B |
|---|---|
| Full Name | RAB1B, member RAS oncogene family |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 81876 ncbi.nlm.nih.gov/gene/81876 |
| Ensembl ID | ENSG00000174903 |
| UniProt ID | Q9H0U4 |
| OMIM ID | 612565 |
| HGNC ID | 30267 |
| Aliases | RAB1B, RAB1Bv1, RAB1Bv2 |
Description
RAB1B is a small GTPase of the Rab family that regulates vesicle trafficking between the endoplasmic reticulum and Golgi apparatus. It is also involved in autophagy, cell proliferation, and response to cellular stress. RAB1B is ubiquitously expressed and has been implicated in several cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of RAB1B alters vesicle trafficking and autophagy, promoting tumor growth and metastasis. | COSMIC, NCBI |
| Neurodegenerative diseases | Impaired RAB1B function disrupts autophagic clearance of protein aggregates. | UniProt, NCBI |
| Infectious diseases | RAB1B is hijacked by intracellular pathogens for replication. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.2 | Medium |
| Kidney | 10.8 | Medium |
| Lung | 9.3 | Low |
| Heart | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| A549 | 9.8 | Lung cancer cell line |
| MCF7 | 13.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.1% | Unknown functional impact |
| c.456G>A | Missense | <0.1% | Reported in COSMIC |
| c.789del | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated, non-functional protein.
Gain of Function (GOF)
Not well documented; some missense variants may alter GTPase activity.
Dominant Negative (DN)
Not reported for RAB1B.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • vesicle-mediated transport | • ER to Golgi vesicle-mediated transport |
| • autophagy | • intracellular protein transport |
Pathways
• Vesicle-mediated transport
• Autophagy
• Endocytosis
• RAB1B regulation of trafficking
Protein Summary
RAB1B is a 201-amino acid small GTPase that cycles between active GTP-bound and inactive GDP-bound states. It localizes to the Golgi and ER-Golgi intermediate compartment, where it recruits tethering factors and SNAREs to facilitate membrane fusion. RAB1B also plays a role in autophagosome formation and is regulated by GEFs and GAPs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB1B Knockout HEK293 Cell Line | EDJ-KQ9766 | Human | 81876 | Details Get a Quote |
| RAB1B Knockout HCT 116 Cell Line | EDJ-KQ35385 | Human | 81876 | Details Get a Quote |
| RAB1B Knockout A-549 Cell Line | EDJ-KQ36601 | Human | 81876 | Details Get a Quote |
| RAB1B Knockout HeLa Cell Line | EDJ-KQ36603 | Human | 81876 | Details Get a Quote |
