HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RAB7A
RAB7A, member RAS oncogene family
Chromosome 3 · 3q21.3
NCBI Gene: 7879Ensembl: ENSG00000075785.15HGNC: HGNC:9788UniProt: A0A158RFU6
370PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomelate endosomeretromer complexsterol sensor activityAutosomal dominant Charcot-Marie-Tooth disease type 2BCharcot-Marie-Tooth disease type 2Bneurodegenerative diseaseParkinson disease
✦AI Summary

RAB7A is a small GTPase that plays critical roles in autophagy regulation and cellular trafficking processes. The protein functions as a key regulator of autophagosome-lysosome fusion, with its activity being essential for proper autophagic flux 1. RAB7A activity is regulated through ubiquitination, where USP4-mediated deubiquitination maintains its function, while excessive ubiquitination impairs autophagosome-lysosome fusion 1. Post-translational modifications also control RAB7A function, as SIRT5-mediated desuccinylation at lysine 31 is required for maintaining RAB7A activity and preventing autophagic flux blockade 2. In mitochondrial quality control, RAB7A participates in mitophagosome formation during PINK1-Parkin-mediated mitophagy, requiring intact Rab cycling processes and TBK1 phosphorylation 3. The protein is involved in ferroptosis through RAB7A-dependent lipophagy mechanisms 4. Circadian regulation occurs through CLOCK-mediated transcriptional control, coordinating mitochondrial quality control during stress responses 5. In disease contexts, RAB7A dysfunction contributes to periodontitis progression through impaired autophagy 1 and Alzheimer's disease-like pathology when desuccinylation is compromised 2. RAB7A also enhances TPC2 channel activity in melanoma, modulating the GSK3β/β-Catenin/MITF axis and affecting cancer progression 6.

Sources cited
1
RAB7A ubiquitination impairs autophagosome-lysosome fusion and USP4 depletion affects periodontitis progression
PMID: 39663592
2
SIRT5-mediated desuccinylation of RAB7A at lysine 31 is required for autophagic flux and protection against Alzheimer's pathology
PMID: 38837686
3
RAB7A regulates mitophagosome formation in PINK1-Parkin-mediated mitophagy through Rab cycling and TBK1 phosphorylation
PMID: 30857122
4
RAB7A-dependent lipophagy promotes ferroptosis, a type of autophagy-dependent cell death
PMID: 30880243
5
CLOCK transcriptionally regulates RAB7A as part of mitochondrial quality control during cardiac stress responses
PMID: 34085589
6
RAB7A enhances TPC2 channel activity and modulates GSK3β/β-Catenin/MITF signaling in melanoma progression
PMID: 39562548
Disease Associationsⓘ21
Autosomal dominant Charcot-Marie-Tooth disease type 2BOpen Targets
0.77Strong
Charcot-Marie-Tooth disease type 2BOpen Targets
0.75Strong
neurodegenerative diseaseOpen Targets
0.57Moderate
Parkinson diseaseOpen Targets
0.49Moderate
Alzheimer diseaseOpen Targets
0.47Moderate
tuberculosisOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.45Moderate
multiple sclerosisOpen Targets
0.45Moderate
neuroinflammatory disorderOpen Targets
0.45Moderate
Charcot-Marie-Tooth disease type 2Open Targets
0.41Moderate
smoking initiationOpen Targets
0.29Weak
cervical carcinomaOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.27Weak
substance abuseOpen Targets
0.27Weak
genetic disorderOpen Targets
0.18Weak
Retinal hemorrhageOpen Targets
0.18Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.18Weak
prostate carcinomaOpen Targets
0.15Weak
glomerulonephritisOpen Targets
0.11Weak
melanomaOpen Targets
0.10Suggestive
Charcot-Marie-Tooth disease, axonal, type 2BUniProt
Pathogenic Variants4
NM_004637.6(RAB7A):c.484G>A (p.Val162Met)Pathogenic
Charcot-Marie-Tooth disease type 2B|not provided|Charcot-Marie-Tooth disease
★★☆☆2026→ Residue 162
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)Pathogenic
Charcot-Marie-Tooth disease type 2B|not provided|Charcot-Marie-Tooth disease
★★☆☆2025→ Residue 129
NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile)Pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2B
★☆☆☆2020→ Residue 161
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)Pathogenic
Charcot-Marie-Tooth disease type 2B
★☆☆☆2019→ Residue 157
View on ClinVar ↗
Related Genes
VPS26AProtein interaction100%CCZ1Protein interaction100%DYNC1LI1Protein interaction100%TBC1D15Protein interaction99%VPS29Protein interaction99%CCZ1BProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
92%
Lung
77%
Liver
53%
Ovary
49%
Bone Marrow
32%
Gene Interaction Network
Click a node to explore
RAB7AVPS26ACCZ1DYNC1LI1TBC1D15VPS29CCZ1B
PROTEIN STRUCTURE
Preparing viewer…
PDB1T91 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.08 [0.03–0.24]
RankingsWhere RAB7A stands among ~20K protein-coding genes
  • #827of 20,598
    Most Researched370 · top 5%
  • #3,677of 5,498
    Most Pathogenic Variants4
  • #714of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedRAB7A
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Ferroptosis is a type of autophagy-dependent cell death.
PMID: 30880243
Semin Cancer Biol · 2020
1.00
2
USP4 depletion-driven RAB7A ubiquitylation impairs autophagosome-lysosome fusion and aggravates periodontitis.
PMID: 39663592
Autophagy · 2025
0.90
3
SIRT5-Mediated Desuccinylation of RAB7A Protects Against Cadmium-Induced Alzheimer's Disease-Like Pathology by Restoring Autophagic Flux.
PMID: 38837686
Adv Sci (Weinh) · 2024
0.80
4
Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells.
PMID: 33147445
Cell · 2021
0.72
5
Mitochondrial autophagy and cell survival is regulated by the circadian
PMID: 34085589
Autophagy · 2021
0.70