RAB38
Member of RAS Oncogene Family, Involved in Melanosome Biogenesis and Platelet Dense Granule Secretion
Gene Information Card
| Symbol | RAB38 |
|---|---|
| Full Name | RAB38, member RAS oncogene family |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 23682 ncbi.nlm.nih.gov/gene/23682 |
| Ensembl ID | ENSG00000167967 |
| UniProt ID | P57729 |
| OMIM ID | 606281 |
| HGNC ID | 9775 |
| Aliases | NY-MEL-1, RAB38L, RAB38A |
Description
RAB38 is a member of the RAB family of small GTPases involved in vesicle trafficking, specifically regulating melanosome biogenesis and platelet dense granule secretion. Mutations in RAB38 are associated with Hermansky-Pudlak syndrome type 8 (HPS8), characterized by oculocutaneous albinism and bleeding diathesis. The gene is also implicated in melanoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 8 (HPS8) | Loss-of-function mutations impair melanosome and platelet dense granule formation, leading to albinism and bleeding | OMIM #614077; ClinVar |
| Melanoma | Overexpression and altered trafficking may contribute to melanosome abnormalities in melanoma cells | COSMIC; NCBI Gene |
| Oculocutaneous albinism | Defective melanosome biogenesis due to RAB38 deficiency | OMIM #614077 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 6.1 | Low |
| Brain | 2.4 | Not detected |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 15.2 | High expression |
| A375 (melanoma) | 12.8 | High expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
| HeLa (cervical) | 2.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | <0.01% | Loss of function; associated with HPS8 |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function; associated with HPS8 |
| c.485G>A (p.Arg162Gln) | Missense | <0.01% | Likely loss of function; reported in HPS8 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing vesicle trafficking in melanocytes and platelets.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • intracellular protein transport | • vesicle-mediated transport |
| • melanosome organization | • platelet dense granule organization |
Pathways
• Melanosome biogenesis
• Platelet dense granule secretion
• RAB family signaling
Protein Summary
RAB38 encodes a 211-amino-acid small GTPase that cycles between active GTP-bound and inactive GDP-bound states. It localizes to melanosomes and platelet dense granules, regulating their maturation and transport. Loss of function disrupts pigmentation and hemostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB38 Knockout HEK293 Cell Line | EDJ-KQ8119 | Human | 23682 | Details Get a Quote |
| RAB38 Knockout HCT 116 Cell Line | EDJ-KQ34004 | Human | 23682 | Details Get a Quote |
| RAB38 Knockout HeLa Cell Line | EDJ-KQ34005 | Human | 23682 | Details Get a Quote |
| RAB38 Knockout A-549 Cell Line | EDJ-KQ64291 | Human | 23682 | Details Get a Quote |
