HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
VPS41
VPS41 subunit of HOPS complex
Chromosome 7 Β· 7p14.1
NCBI Gene: 27072Ensembl: ENSG00000006715.17HGNC: HGNC:12713UniProt: P49754
70PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
AP-3 adaptor complexclathrin complexmolecular adaptor activityprotein bindingneurodegenerative diseaseDystoniaspinocerebellar ataxia, autosomal recessive 29Intellectual disability
✦AI Summary

VPS41 is a core component of the HOPS (homotypic fusion and protein sorting) complex that mediates vesicle trafficking to lysosomes. Primary function: VPS41 facilitates autophagosome-lysosome fusion 1 and endosome-lysosome fusion through SNARE complex assembly 1. It recruits LAMP-positive biosynthetic vesicles from the trans-Golgi network via interaction with Arl8b 2, linking endosomal Rab7 and lysosomal membranes to enable compartment fusion 3. Mechanism: VPS41 interacts with Rab7 and promotes Rab7-HOPS complex association 1, facilitating autophagosome maturation 4. It also functions independently of HOPS in regulated secretion 5. Disease relevance: Compound heterozygous VPS41 mutations cause autosomal recessive spinocerebellar ataxia-29, characterized by impaired HOPS-mediated lysosomal fusion, cytosolic mTORC1 redistribution, and dysregulated TFEB/TFE3 signaling 5. Clinical significance: VPS41 dysregulation affects autophagic cargo clearance and mTORC1-dependent transcriptional control of lysosomal genes. Therapeutic modulation of VPS41 may enhance autophagy in neurodegeneration or restore lysosomal function in disease contexts 1.

Sources cited
1
VPS41 directly binds RAB7 and promotes RAB7-HOPS interaction, facilitating SNARE complex assembly and autophagosome-lysosome fusion
PMID: 39477683
2
VPS41 recruits LAMP-positive biosynthetic vesicles through direct interaction with Arl8b via its WD40 domain
PMID: 39907656
3
VPS41 is conserved across eukaryotes and contains domains resembling clathrin heavy chain; human VPS41 contains a RING-H2 zinc finger
PMID: 9159129
4
RAB2 engages HOPS complex (including VPS41) to specify autolysosome formation following autophagosome generation
PMID: 30957628
5
Compound heterozygous VPS41 mutations cause neurodegeneration with ataxia; mutants prevent HOPS complex formation, cause delayed lysosomal cargo delivery, and disrupt mTORC1-TFEB/TFE3 signaling
PMID: 33851776
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.56Moderate
DystoniaOpen Targets
0.52Moderate
spinocerebellar ataxia, autosomal recessive 29Open Targets
0.51Moderate
Intellectual disabilityOpen Targets
0.46Moderate
cerebellar ataxiaOpen Targets
0.44Moderate
AtaxiaOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
Autosomal recessive cerebellar ataxia - saccadic intrusionOpen Targets
0.37Weak
COVID-19Open Targets
0.37Weak
hyperaldosteronismOpen Targets
0.31Weak
major depressive disorderOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.31Weak
liver diseaseOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.30Weak
joint diseaseOpen Targets
0.27Weak
hyperimmunoglobulinemia D with periodic feverOpen Targets
0.27Weak
biliary tract diseaseOpen Targets
0.26Weak
Myocardial IschemiaOpen Targets
0.25Weak
HypercholesterolemiaOpen Targets
0.20Weak
Spinocerebellar ataxia, autosomal recessive, 29UniProt
Pathogenic Variants9
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 29|Hyperimmunoglobulin D with periodic fever
β˜…β˜†β˜†β˜†2025β†’ Residue 285
NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 29|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 662
NM_014396.4(VPS41):c.1247G>A (p.Arg416His)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 29
β˜…β˜†β˜†β˜†2025β†’ Residue 416
NM_014396.4(VPS41):c.385-2A>GLikely pathogenic
Spinocerebellar ataxia, autosomal recessive 29
β˜…β˜†β˜†β˜†2025
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 29
β˜…β˜†β˜†β˜†2022β†’ Residue 667
NM_014396.4(VPS41):c.450+1G>TPathogenic
Spinocerebellar ataxia, autosomal recessive 29
β˜†β˜†β˜†β˜†2021
NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe)Pathogenic
Spinocerebellar ataxia, autosomal recessive 29
β˜†β˜†β˜†β˜†2021β†’ Residue 791
NM_014396.4(VPS41):c.1423-2A>GPathogenic
Spinocerebellar ataxia, autosomal recessive 29
β˜†β˜†β˜†β˜†2021
NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro)Pathogenic
Spinocerebellar ataxia, autosomal recessive 29
β˜†β˜†β˜†β˜†2021β†’ Residue 633
View on ClinVar β†—
Related Genes
STX7Protein interaction100%RAB9AProtein interaction100%VTI1BProtein interaction100%VPS45Protein interaction100%STX12Protein interaction100%VPS33BProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
71%
Ovary
57%
Lung
40%
Liver
35%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
VPS41STX7RAB9AVTI1BVPS45STX12VPS33B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P49754
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.58–0.90]
RankingsWhere VPS41 stands among ~20K protein-coding genes
  • #6,776of 20,598
    Most Researched70
  • #2,953of 5,498
    Most Pathogenic Variants9
  • #8,188of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedVPS41
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Atractylenolide I inhibits angiogenesis and reverses sunitinib resistance in clear cell renal cell carcinoma through ATP6V0D2-mediated autophagic degradation of EPAS1/HIF2Ξ±.
PMID: 39477683
Autophagy Β· 2025
1.00
2
VPS41 recruits biosynthetic LAMP-positive vesicles through interaction with Arl8b.
PMID: 39907656
J Cell Biol Β· 2025
0.90
3
Characterization of VPS41, a gene required for vacuolar trafficking and high-affinity iron transport in yeast.
PMID: 9159129
Proc Natl Acad Sci U S A Β· 1997
0.80
4
RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells.
PMID: 30957628
Autophagy Β· 2019
0.70
5
Nrf2 improves hippocampal synaptic plasticity, learning and memory through the circ-Vps41/miR-26a-5p/CaMKIV regulatory network.
PMID: 35143833
Exp Neurol Β· 2022
0.60