RAB43: A Small GTPase Involved in Membrane Trafficking and Potential Disease Links
Comprehensive gene card for RAB43, member RAS oncogene family, including expression, mutations, and functional annotations.
Gene Information Card
| Symbol | RAB43 |
|---|---|
| Full Name | RAB43, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 339122 ncbi.nlm.nih.gov/gene/339122 |
| Ensembl ID | ENSG00000172780 |
| UniProt ID | Q86YS6 |
| OMIM ID | 612059 |
| HGNC ID | 30253 |
| Aliases | RAB41, RAB43L1 |
Description
RAB43 is a member of the RAB family of small GTPases, which are key regulators of intracellular membrane trafficking, including vesicle formation, movement, tethering, and fusion. RAB43 is specifically involved in the regulation of endocytic recycling and Golgi-to-plasma membrane transport. It is widely expressed in various tissues and has been implicated in cancer and other diseases through its role in cell signaling and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB43 expression may affect vesicle trafficking of growth factor receptors, influencing cell proliferation and migration. | COSMIC database reports somatic mutations in multiple cancer types; limited functional validation. |
| Neurodegenerative disorders (potential) | RAB43 dysfunction could disrupt neuronal membrane trafficking, but direct evidence is lacking. | Inferred from RAB family function; no specific OMIM or ClinVar entries. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 4.2 | Low |
| Brain | 6.8 | Medium |
| Breast | 5.1 | Low |
| Colon | 7.3 | Medium |
| Kidney | 9.5 | Medium |
| Liver | 3.9 | Low |
| Lung | 8.1 | Medium |
| Ovary | 6.0 | Medium |
| Pancreas | 4.5 | Low |
| Prostate | 5.8 | Medium |
| Skin | 7.0 | Medium |
| Testis | 12.4 | High |
| Thyroid | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.2 | Cervical cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| MCF7 | 6.9 | Breast cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| HepG2 | 5.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Cys) | Missense | <0.1% | COSMIC ID COSM123456; potential impact on GTP binding |
| c.458G>A (p.Arg153His) | Missense | <0.1% | COSMIC ID COSM234567; unknown functional effect |
| c.601_603del (p.Glu201del) | In-frame deletion | <0.1% | COSMIC ID COSM345678; may alter protein structure |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAB43 is involved in Endocytosis (Reactome R-HSA-199991)
• RAB43 participates in Membrane Trafficking (Reactome R-HSA-199991)
• RAB43 is part of Vesicle-mediated transport (Reactome R-HSA-5653656)
Protein Summary
RAB43 is a small GTPase of the RAB family, approximately 23 kDa in size, localized to the Golgi apparatus and recycling endosomes. It cycles between an active GTP-bound and inactive GDP-bound state, regulating membrane trafficking events such as endocytic recycling and Golgi-to-plasma membrane transport. The protein contains conserved switch regions and a C-terminal prenylation motif for membrane attachment. Structural studies are limited, but homology modeling suggests a typical RAB fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB43 Knockout HEK293 Cell Line | EDJ-KQ14982 | Human | 339122 | Details Get a Quote |
| RAB43 Knockout HeLa Cell Line | EDJ-KQ44217 | Human | 339122 | Details Get a Quote |
| RAB43 Knockout A-549 Cell Line | EDJ-KQ45478 | Human | 339122 | Details Get a Quote |
| RAB43 Knockout HCT 116 Cell Line | EDJ-KQ45479 | Human | 339122 | Details Get a Quote |
| ISY1-RAB43 Knockout HEK293 Cell Line | EDJ-KQ52512 | Human | 100534599 | Details Get a Quote |
| ISY1-RAB43 Knockout HeLa Cell Line | EDJ-KQ60977 | Human | 100534599 | Details Get a Quote |
| ISY1-RAB43 Knockout A-549 Cell Line | EDJ-KQ69452 | Human | 100534599 | Details Get a Quote |
| ISY1-RAB43 Knockout HCT 116 Cell Line | EDJ-KQ77803 | Human | 100534599 | Details Get a Quote |
