RAB27A
Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB27A |
|---|---|
| Full Name | RAB27A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 5873 ncbi.nlm.nih.gov/gene/5873 |
| Ensembl ID | ENSG00000069974 |
| UniProt ID | P51159 |
| OMIM ID | 603868 |
| HGNC ID | 9766 |
| Aliases | GS2, RAB27, RAM |
Description
RAB27A encodes a member of the Rab family of small GTPases, which regulate intracellular vesicle trafficking. This protein is essential for melanosome transport in melanocytes and for secretory granule exocytosis in cytotoxic T lymphocytes. Mutations in RAB27A cause Griscelli syndrome type 2, characterized by partial albinism and immunodeficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Griscelli syndrome type 2 (GS2) | Loss-of-function mutations impair melanosome and lytic granule transport, leading to hypopigmentation and hemophagocytic lymphohistiocytosis | OMIM #607624; ClinVar |
| Hemophagocytic lymphohistiocytosis (HLH) | Defective cytotoxic granule exocytosis in T cells and NK cells due to RAB27A deficiency | NCBI Gene; OMIM |
| Chédiak-Higashi syndrome (differential) | Similar vesicle trafficking defect but caused by LYST mutations; RAB27A mutations excluded | OMIM #214500 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 14.2 | Medium |
| Spleen | 11.8 | Medium |
| Lung | 9.5 | Medium |
| Skin | 8.1 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 12.1 | Leukemia cell line |
| HEK 293 | 7.8 | Embryonic kidney |
| HeLa | 6.5 | Cervical carcinoma |
| A549 | 5.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.550C>T (p.Arg184*) | Nonsense | <0.01% | Loss of function; causes GS2 |
| c.244G>A (p.Gly82Arg) | Missense | <0.01% | Loss of function; impairs GTP binding |
| c.559_560delAG (p.Ser187fs) | Frameshift | <0.01% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most RAB27A mutations are loss-of-function, leading to impaired vesicle trafficking and GS2.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • melanosome transport |
| • exocytosis | • vesicle-mediated transport |
Pathways
• Melanosome transport
• Fc gamma R-mediated phagocytosis
• Natural killer cell mediated cytotoxicity
Protein Summary
RAB27A is a small GTPase that cycles between active GTP-bound and inactive GDP-bound states. It regulates the docking and fusion of secretory vesicles, including melanosomes in melanocytes and lytic granules in cytotoxic T cells. The protein interacts with effectors such as SYTL1, SYTL2, and MLPH to mediate vesicle transport along actin filaments.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB27A Knockout HEK293 Cell Line | EDJ-KQ3826 | Human | 5873 | Details Get a Quote |
| RAB27A Knockout A-549 Cell Line | EDJ-KQ18174 | Human | 5873 | Details Get a Quote |
| RAB27A Knockout HCT 116 Cell Line | EDJ-KQ25971 | Human | 5873 | Details Get a Quote |
| RAB27A Knockout HeLa Cell Line | EDJ-KQ25972 | Human | 5873 | Details Get a Quote |
| RAB27A Knockout HAP1 Cell Line | EDC07906 | Human | 5873 | Details Get a Quote |
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