RAB28 Gene
RAB28, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB28 |
|---|---|
| Full Name | RAB28, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.33 |
| NCBI Gene ID | 9364 ncbi.nlm.nih.gov/gene/9364 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | P51157 |
| OMIM ID | 612994 |
| HGNC ID | 9768 |
| Aliases | RAB28, member RAS oncogene family |
Description
RAB28 is a member of the RAS oncogene family of small GTPases. It is involved in intracellular vesicle trafficking, particularly in the photoreceptor cells of the retina. Mutations in RAB28 are associated with autosomal recessive cone-rod dystrophy (CORD18). The protein cycles between active GTP-bound and inactive GDP-bound states, regulating membrane trafficking and ciliary transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone-rod dystrophy 18 (CORD18) | Loss-of-function mutations impair vesicle trafficking in photoreceptors, leading to progressive retinal degeneration. | OMIM #615374; ClinVar; PMID: 23591406 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Testis | 8.2 | Low |
| Brain | 6.1 | Low |
| Heart | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 10.0 | Retinal cell line |
| SH-SY5Y (neuroblastoma) | 7.5 | Neuronal model |
| HeLa | 5.0 | Cervical cancer |
| HEK293 | 4.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.557G>A (p.Arg186Gln) | Missense | Rare | Loss of GTP binding; associated with CORD18 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; pathogenic |
| c.466C>T (p.Arg156*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (missense, nonsense, start loss) lead to loss of RAB28 GTPase activity or protein expression, impairing photoreceptor vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • intracellular protein transport (GO:0006886) | • photoreceptor cell maintenance (GO:0045494) |
| • cilium assembly (GO:0060271) |
Pathways
• Vesicle-mediated transport (R-HSA-5653656)
• Phototransduction cascade (KEGG:04744)
• RAB GEFs exchange GTP for GDP on RABs (Reactome: R-HSA-8876198)
Protein Summary
RAB28 is a small GTPase of the RAS superfamily, localized to the Golgi and endosomal compartments. It plays a critical role in ciliary trafficking and photoreceptor outer segment renewal. The protein contains conserved GTP-binding domains and undergoes prenylation for membrane association. Loss of RAB28 function leads to accumulation of mislocalized proteins in retinal cells, causing cone-rod dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB28 Knockout HEK293 Cell Line | EDJ-KQ6561 | Human | 9364 | Details Get a Quote |
| RAB28 Knockout A-549 Cell Line | EDJ-KQ30762 | Human | 9364 | Details Get a Quote |
| RAB28 Knockout HCT 116 Cell Line | EDJ-KQ30763 | Human | 9364 | Details Get a Quote |
| RAB28 Knockout HeLa Cell Line | EDJ-KQ30764 | Human | 9364 | Details Get a Quote |
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