RAB34 Gene - RAB34, Member RAS Oncogene Family
Comprehensive genomic and functional annotation of RAB34, a small GTPase involved in intracellular vesicle trafficking and ciliogenesis.
Gene Information Card
| Symbol | RAB34 |
|---|---|
| Full Name | RAB34, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 83871 ncbi.nlm.nih.gov/gene/83871 |
| Ensembl ID | ENSG00000108298 |
| UniProt ID | Q9BZG1 |
| OMIM ID | 612908 |
| HGNC ID | 30288 |
| Aliases | RAB39, RAB40, RAB34, member RAS oncogene family |
Description
RAB34 is a member of the RAS oncogene family of small GTPases. It functions as a molecular switch in intracellular membrane trafficking, particularly in the regulation of ciliogenesis and lysosome-related organelle transport. RAB34 localizes to the Golgi apparatus and endosomal compartments, and its activity is controlled by GTP binding and hydrolysis. The gene is located on chromosome 17q11.2 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis | Impaired osteoclast function due to defective vesicle trafficking | OMIM #612908 |
| Ciliopathy-related disorders | Disruption of primary cilium formation | UniProt Q9BZG1 |
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 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | Embryonic kidney cells |
| HeLa | 14.2 | Cervical cancer cells |
| A549 | 9.8 | Lung carcinoma cells |
| K562 | 7.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Alters start codon, potential loss of function |
| c.215C>T | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt GTP binding lead to loss of RAB34 function, impairing ciliogenesis and vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RAB34 in curated databases.
Dominant Negative (DN)
Mutations that impair GTP hydrolysis without affecting GTP binding may act as dominant-negative, interfering with wild-type RAB34 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAB34 regulates ciliogenesis via the RAB34-RAB11 cascade
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
RAB34 is a 225-amino acid small GTPase (UniProt Q9BZG1) that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to the Golgi apparatus and endosomes, where it regulates membrane trafficking events essential for primary cilium formation and lysosome-related organelle biogenesis. The protein contains a conserved G domain for nucleotide binding and a C-terminal prenylation motif for membrane anchoring.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB34 Knockout HEK293 Cell Line | EDJ-KQ9913 | Human | 83871 | Details Get a Quote |
| RAB34 Knockout A-549 Cell Line | EDJ-KQ36809 | Human | 83871 | Details Get a Quote |
| RAB34 Knockout HCT 116 Cell Line | EDJ-KQ36810 | Human | 83871 | Details Get a Quote |
| RAB34 Knockout HeLa Cell Line | EDJ-KQ36811 | Human | 83871 | Details Get a Quote |
