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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RABGEF1
RAB guanine nucleotide exchange factor 1
Chromosome 7 · 7q11.21
NCBI Gene: 27342Ensembl: ENSG00000154710.19HGNC: HGNC:17676UniProt: A8K3R3
95PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
small GTPase bindingcytosolearly endosome membraneprotein bindingAlzheimer diseasebronchiectasisneoplasmhepatocellular carcinoma
✦AI Summary

RABGEF1 (RAB guanine nucleotide exchange factor 1) primarily functions as a guanine nucleotide exchange factor that promotes the conversion of inactive RAB5-GDP to active RAB5-GTP, facilitating endosomal membrane trafficking and fusion 1. The protein forms complexes with RABEP1 to regulate endosome maturation and is essential for endocytic vesicle transport 2. Beyond its GEF activity, RABGEF1 also functions as an E3 ubiquitin ligase, promoting protein degradation through K63-linked ubiquitination and directing proteins to multivesicular bodies for lysosomal degradation 3. RABGEF1 plays crucial roles in maintaining tissue homeostasis by regulating intrinsic immune signaling pathways. In keratinocytes and intestinal epithelial cells, RABGEF1 dampens IL-1R/MYD88/NF-κB signaling to prevent excessive inflammation and maintain barrier function 4 5. Disease relevance includes its oncogenic role in glioblastoma, where it promotes cell proliferation and metastasis through AKT and ERK pathway activation 6, and its involvement in promoting TNF-induced necroptosis by targeting cIAP1 7. Clinically, reduced RABGEF1 expression is associated with allergic skin disorders and diabetic foot ulcers, making it a potential therapeutic target 4 8.

Sources cited
1
RABGEF1 functions as GEF for RAB5 and regulates endosomal Rab cycles in mitophagy
PMID: 29360040
2
RABGEF1 facilitates cholesterol absorption through endosome maturation
PMID: 38971819
3
RABGEF1 promotes protein degradation via K63-linked ubiquitination and endosomal trafficking
PMID: 37787182
4
RABGEF1 dampens IL-1R/MYD88/NF-κB signaling in keratinocytes for skin barrier function
PMID: 27820702
5
RABGEF1 regulates MYD88-dependent signaling in intestinal epithelial cells
PMID: 31628426
6
RABGEF1 acts as oncogene in glioblastoma through AKT/ERK pathways
PMID: 33166495
7
RABGEF1 promotes TNF-induced necroptosis by targeting cIAP1
PMID: 38377943
8
RABGEF1 is identified as diagnostic marker for diabetic foot ulcers
PMID: 38862997
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.17Weak
bronchiectasisOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.08Suggestive
AnxietyOpen Targets
0.08Suggestive
congenital rubellaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.05Suggestive
obesityOpen Targets
0.05Suggestive
subarachnoid hemorrhageOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.04Suggestive
colitisOpen Targets
0.04Suggestive
acute lymphoblastic leukemiaOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.04Suggestive
osteosarcomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB5BProtein interaction100%GGA1Protein interaction100%UBA52Protein interaction100%UBBProtein interaction100%UBCProtein interaction100%RAB21Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
38%
Brain
36%
Liver
31%
Lung
29%
Heart
14%
Gene Interaction Network
Click a node to explore
RABGEF1RAB5BGGA1UBA52UBBUBCRAB21
PROTEIN STRUCTURE
Preparing viewer…
PDB4N3X · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.36–0.69]
RankingsWhere RABGEF1 stands among ~20K protein-coding genes
  • #5,055of 20,598
    Most Researched95 · top quartile
  • #5,217of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedRABGEF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ATP6V0A1-dependent cholesterol absorption in colorectal cancer cells triggers immunosuppressive signaling to inactivate memory CD8
PMID: 38971819
Nat Commun · 2024
1.00
2
GPRASP1 loss-of-function links to arteriovenous malformations by endothelial activating GPR4 signals.
PMID: 37787182
Brain · 2024
0.90
3
RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways.
PMID: 33166495
Exp Mol Pathol · 2021
0.80
4
Endosomal Rab cycles regulate Parkin-mediated mitophagy.
PMID: 29360040
Elife · 2018
0.70
5
Guanine nucleotide exchange factor RABGEF1 facilitates TNF-induced necroptosis by targeting cIAP1.
PMID: 38377943
Biochem Biophys Res Commun · 2024
0.60