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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GAPVD1
GTPase activating protein and VPS9 domains 1
Chromosome 9 · 9q33.3
NCBI Gene: 26130Ensembl: ENSG00000165219.23HGNC: HGNC:23375UniProt: B0QZ65
115PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityprotein bindingGTPase activating protein bindingcadherin bindingAbnormality of the skeletal systemobstructive sleep apneasmoking initiationfamilial idiopathic steroid-resistant nephrotic syndrome
✦AI Summary

GAPVD1 (GTPase activating protein and VPS9 domains 1) is a multifunctional regulator of small GTPases that controls endocytic trafficking and receptor internalization. As a guanine nucleotide exchange factor (GEF) for RAB31, GAPVD1 regulates GLUT4 trafficking by maintaining RAB31 in an active state, promoting glucose transporter cycling between intracellular storage vesicles and early endosomes 1. Upon insulin stimulation, GAPVD1 translocates to the plasma membrane, releasing GLUT4 for glucose uptake. GAPVD1 also regulates endocytosis through phosphorylation by casein kinase 1δ/ε; phosphorylation is essential for efficient transferrin and EGF internalization 2. Clinically, GAPVD1 mutations cause steroid-resistant nephrotic syndrome through impaired RAB5 regulation and reduced nephrin binding, disrupting podocyte endocytosis and cell migration 1. In cancer biology, GAPVD1 participates in triple-negative breast cancer stemness through VEGFA/NRP-1 signaling and Wnt/β-catenin pathway activation 3, while circular GAPVD1 suppresses gastric cancer progression via miR-4424/STK4 regulation 4. GAPVD1 expression levels correlate with interferon-β response in multiple sclerosis patients 5, suggesting pharmacogenetic significance.

Sources cited
1
GAPVD1 mutations cause nephrotic syndrome; GAPVD1 interacts with RAB5 and nephrin; supports RAB5 regulation in kidney podocytes
PMID: 29959197
2
GAPVD1 is a substrate of casein kinase 1δ/ε; phosphorylation is required for efficient endocytosis of transferrin and EGF
PMID: 32321936
3
GAPVD1 mediates triple-negative breast cancer stemness through VEGFA/NRP-1/GAPVD1/Wnt/β-catenin signaling axis
PMID: 38169627
4
circGAPVD1 inhibits gastric cancer progression via miR-4424/STK4 axis and encodes GAPVD1-137aa protein
PMID: 40545108
5
GAPVD1 expression level and rs2291858 polymorphism affect interferon-β response in multiple sclerosis patients
PMID: 33548618
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
obstructive sleep apneaOpen Targets
0.42Moderate
smoking initiationOpen Targets
0.40Weak
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.37Weak
sleep apneaOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.33Weak
hypothyroidismOpen Targets
0.29Weak
smoking behaviorOpen Targets
0.28Weak
Sleep DisorderOpen Targets
0.27Weak
risk-taking behaviourOpen Targets
0.26Weak
response to angiotensin-converting enzyme inhibitorOpen Targets
0.08Suggestive
CoughOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
esophageal diseaseOpen Targets
0.06Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.06Suggestive
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
0.05Suggestive
bronchopneumoniaOpen Targets
0.05Suggestive
Lung AbscessOpen Targets
0.05Suggestive
Tietze syndromeOpen Targets
0.05Suggestive
sign or symptomOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANKFY1Protein interaction99%MON1AProtein interaction97%RAB5BProtein interaction95%RABEP1Protein interaction95%CCZ1Protein interaction93%CCZ1BProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
84%
Lung
73%
Ovary
56%
Heart
52%
Liver
45%
Gene Interaction Network
Click a node to explore
GAPVD1ANKFY1MON1ARAB5BRABEP1CCZ1CCZ1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14C86
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.15–0.34]
RankingsWhere GAPVD1 stands among ~20K protein-coding genes
  • #4,118of 20,598
    Most Researched115 · top quartile
  • #1,463of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedGAPVD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
VEGFA/NRP-1/GAPVD1 axis promotes progression and cancer stemness of triple-negative breast cancer by enhancing tumor cell-macrophage crosstalk.
PMID: 38169627
Int J Biol Sci · 2024
1.00
2
An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis.
PMID: 33548618
J Neuroimmunol · 2021
0.90
3
Phosphorylation of GAPVD1 Is Regulated by the PER Complex and Linked to GAPVD1 Degradation.
PMID: 33917494
Int J Mol Sci · 2021
0.80
4
Role of syndecan-4 in breast cancer pathophysiology.
PMID: 36094435
Am J Physiol Cell Physiol · 2022
0.70
5
PMID: 29959197
J Am Soc Nephrol · 2018
0.60