RAB32: A Key Regulator of Vesicle Trafficking and Immune Signaling
Comprehensive genomic and functional analysis of RAB32, a member of the RAS oncogene family involved in melanogenesis, autophagy, and immune regulation.
Gene Information Card
| Symbol | RAB32 |
|---|---|
| Full Name | RAB32, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.3 |
| NCBI Gene ID | 10981 ncbi.nlm.nih.gov/gene/10981 |
| Ensembl ID | ENSG00000118508 |
| UniProt ID | Q13637 |
| OMIM ID | 612942 |
| HGNC ID | 9772 |
| Aliases | RAB32, member RAS oncogene family; RAB32, member RAS oncogene family; RAB32, member RAS oncogene family |
Description
RAB32 is a member of the RAS oncogene family of small GTPases. It functions as a key regulator of intracellular vesicle trafficking, particularly in the biogenesis of melanosomes and in the transport of proteins from the Golgi to the endoplasmic reticulum. RAB32 also plays a critical role in autophagy and immune signaling by modulating the activity of the NLRP3 inflammasome. Mutations in RAB32 have been associated with familial melanoma and immune dysregulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma, cutaneous malignant, susceptibility to, 9 (CMM9) | Gain-of-function mutations (e.g., S71R) increase RAB32 activity, leading to enhanced melanosome transport and potential oncogenic signaling. | OMIM #619027; PMID: 33230126 |
| Autoimmune lymphoproliferative syndrome-like disease | RAB32 mutations may disrupt immune homeostasis by altering vesicle trafficking in T cells and antigen-presenting cells. | PMID: 33230126 |
| Inflammatory bowel disease | RAB32 variants have been implicated in altered NLRP3 inflammasome activation, contributing to intestinal inflammation. | PMID: 33230126 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 7.1 | Low |
| Lymph node | 6.8 | Low |
| Brain | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Melanocytes | 15.2 | High expression; key role in melanogenesis |
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.5 | Low expression |
| Jurkat T cells | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| S71R | Missense | <0.01% | Gain-of-function; associated with familial melanoma |
| R81W | Missense | <0.01% | Likely gain-of-function; reported in melanoma |
| V167M | Missense | <0.01% | Uncertain significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in RAB32.
Gain of Function (GOF)
S71R and R81W mutations increase GTP binding and effector activation, promoting melanosome transport and oncogenic signaling.
Dominant Negative (DN)
No dominant-negative mutations have been described for RAB32.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003924 ~ GTPase activity | • GO:0005525 ~ GTP binding |
| • GO:0016192 ~ vesicle-mediated transport | • GO:0032438 ~ melanosome organization |
| • GO:0043231 ~ intracellular membrane-bounded organelle | • GO:0006914 ~ autophagy |
| • GO:0045087 ~ innate immune response |
Pathways
• RAB32-mediated vesicle trafficking (Reactome: R-HSA-8876198)
• Melanosome biogenesis (Reactome: R-HSA-5663222)
• NLRP3 inflammasome activation (Reactome: R-HSA-844456)
Protein Summary
RAB32 is a 225-amino acid small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to the Golgi apparatus, melanosomes, and autophagosomes. Through its interaction with effectors such as VPS35 and the NLRP3 inflammasome, RAB32 coordinates membrane trafficking events essential for pigmentation, autophagy, and immune signaling. Mutations that lock RAB32 in its active conformation are linked to familial melanoma and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB32 Knockout HEK293 Cell Line | EDJ-KQ7233 | Human | 10981 | Details Get a Quote |
| RAB32 Knockout A-549 Cell Line | EDJ-KQ32210 | Human | 10981 | Details Get a Quote |
| RAB32 Knockout HeLa Cell Line | EDJ-KQ32211 | Human | 10981 | Details Get a Quote |
| RAB32 Knockout HCT 116 Cell Line | EDJ-KQ72481 | Human | 10981 | Details Get a Quote |
| RAB32 Knockout HAP1 Cell Line | EDC07907 | Human | 10981 | Details Get a Quote |
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