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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RAB9A
RAB9A, member RAS oncogene family
Chromosome X · Xp22.2
NCBI Gene: 9367Ensembl: ENSG00000123595.9HGNC: HGNC:9792UniProt: P51151
110PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activityG protein activityprotein bindingGTP bindingneurodegenerative diseaseAlzheimer diseaseParkinson diseaselysosomal storage disease
✦AI Summary

RAB9A is a small GTPase that regulates intracellular membrane trafficking between late endosomes and the trans-Golgi network (TGN). As a Rab family member, it cycles between inactive GDP-bound and active GTP-bound forms to recruit effector proteins controlling vesicle formation and fusion 1. RAB9A specifically uses NDE1/NDEL1 effectors to interact with dynein motor complexes for retrograde trafficking of late endosomes to the TGN 1. It also recruits SGSM2 to melanosomes and is required for proper trafficking of melanogenic enzymes (TYR, TYRP1, DCT/TYRP2) to melanosomes, with functional interactions identified with BLOC-3 complex proteins during melanosome biogenesis 2. Clinically, RAB9A plays an oncogenic role in hepatocellular carcinoma by promoting cell proliferation, inhibiting apoptosis, and enhancing invasion through AKT/mTOR pathway activation 3. In melanoma, RAB9A expression is regulated by the circ_0081054/miR-637 axis, and elevated RAB9A promotes malignant behaviors including proliferation and angiogenesis 4. Notably, RAB9A exhibits noncanonical functions during human papillomavirus entry, where its GDP-bound form facilitates retromer-mediated endosomal exit, contrasting with typical cellular cargo trafficking 5. In Parkinson's disease, RAB9A expression is downregulated in G2019S LRRK2 mutation carriers, and related Rab family member phosphorylation (RAB12) serves as a biomarker for disease severity 6.

Sources cited
1
RAB9A mediates endosome-to-TGN retrograde transport using NDE1/NDEL1 effectors to interact with dynein motor complex
PMID: 34793709
2
RAB9A interacts with BLOC-3 complex and RAB32/38 and is essential for lysosome-related organelle and melanosome biogenesis
PMID: 40140412
3
RAB9A promotes hepatocellular carcinoma cell proliferation, inhibits apoptosis, and enhances invasion through AKT/mTOR pathway activation
PMID: 32420351
4
RAB9A is regulated by circ_0081054/miR-637 axis and promotes melanoma cell proliferation, migration, and angiogenesis
PMID: 37231931
5
RAB9A shows noncanonical GDP-dependent function facilitating HPV retromer-mediated endosomal exit, distinct from cellular protein trafficking
PMID: 37703297
6
RAB9A expression is downregulated in G2019S LRRK2-driven Parkinson's disease patients
PMID: 39705401
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
Alzheimer diseaseOpen Targets
0.35Weak
Parkinson diseaseOpen Targets
0.35Weak
lysosomal storage diseaseOpen Targets
0.35Weak
multiple sclerosisOpen Targets
0.35Weak
breast cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
pancreatitisOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.07Suggestive
human papilloma virus infectionOpen Targets
0.05Suggestive
osteosarcomaOpen Targets
0.03Suggestive
leukemiaOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
sarcopeniaOpen Targets
0.02Suggestive
ischemiaOpen Targets
0.01Suggestive
Niemann-Pick disease type COpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VPS11Protein interaction100%VPS41Protein interaction100%VPS16Protein interaction100%VPS33AProtein interaction100%B2MProtein interaction100%VTI1AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
68%
Heart
62%
Lung
61%
Ovary
56%
Liver
47%
Gene Interaction Network
Click a node to explore
RAB9AVPS11VPS41VPS16VPS33AB2MVTI1A
PROTEIN STRUCTURE
Preparing viewer…
PDB1WMS · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.10 [0.03–0.46]
RankingsWhere RAB9A stands among ~20K protein-coding genes
  • #4,329of 20,598
    Most Researched110 · top quartile
  • #2,624of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedRAB9A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sex differences in autophagy-mediated diseases: toward precision medicine.
PMID: 32264724
Autophagy · 2021
1.00
2
Noncanonical Rab9a action supports retromer-mediated endosomal exit of human papillomavirus during virus entry.
PMID: 37703297
PLoS Pathog · 2023
0.90
3
Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.
PMID: 40140412
Nat Commun · 2025
0.80
4
RAB9A Plays an Oncogenic Role in Human Liver Cancer Cells.
PMID: 32420351
Biomed Res Int · 2020
0.70
5
Circ_0081054 facilitates melanoma development via sponging miR-637 and regulating RAB9A.
PMID: 37231931
Skin Res Technol · 2023
0.60