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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DMXL1
Dmx like 1
Chromosome 5 · 5q23.1
NCBI Gene: 1657Ensembl: ENSG00000172869.15HGNC: HGNC:2937UniProt: B2RWN7
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
vacuolar acidificationRAVE complexendomembrane systemsecretory vesicleneurodegenerative diseaseenteritiscorneal neovascularizationnephrotic syndrome
✦AI Summary

DMXL1 (Dmx-like 1) encodes a large WD repeat protein that serves as a critical regulator of lysosomal acidification and V-ATPase assembly 1. The protein is highly evolutionarily conserved across species, suggesting an important cellular function 1. DMXL1 functions as part of the metazoan RAVE (mRAVE) complex, assembling with ROGDI and WDR7 to facilitate V-ATPase assembly on lysosomal membranes 23. Upon TRPML1 activation, DMXL1 is recruited to lysosomes in a CASM-dependent manner and promotes V1 subunit recruitment, maintaining proper lysosomal pH and hydrolytic capacity 3. The protein also regulates phagosome acidification through TPL-2 kinase-mediated phosphorylation, which is essential for bacterial killing in macrophages 4. Loss of Dmxl1 in mice causes early embryonic lethality, confirming its essential role in basic cellular functions 5. Clinically, DMXL1 is targeted for degradation by human cytomegalovirus to disrupt autophagy and lysosomal function 6, and variants in DMXL1 have been identified as candidate disease-causing mutations in Saudi Arabian patients 7. The protein's critical role in V-ATPase assembly makes it essential for multiple cellular processes including neurotransmitter loading and autophagy regulation 2.

Sources cited
1
DMXL1 encodes a large WD repeat protein that is highly evolutionarily conserved
PMID: 10708522
2
DMXL1 functions as part of the metazoan RAVE complex with ROGDI and WDR7 to facilitate V-ATPase assembly
PMID: 40646309
3
DMXL1 is recruited to lysosomes upon TRPML1 activation and promotes V1 subunit recruitment for maintaining lysosomal pH
PMID: 40527988
4
TPL-2 kinase phosphorylates DMXL1 to regulate phagosome acidification and bacterial killing
PMID: 33881780
5
Loss of Dmxl1 in mice causes early embryonic lethality
PMID: 41330162
6
Human cytomegalovirus degrades DMXL1 to disrupt lysosomal acidification and autophagy
PMID: 38479395
7
DMXL1 variants identified as candidate disease-causing mutations in Saudi Arabian patients
PMID: 28600779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
enteritisOpen Targets
0.25Weak
corneal neovascularizationOpen Targets
0.24Weak
nephrotic syndromeOpen Targets
0.24Weak
polyarteritis nodosaOpen Targets
0.05Suggestive
frozen shoulderOpen Targets
0.03Suggestive
male reproductive organ cancerOpen Targets
0.03Suggestive
Graves diseaseOpen Targets
0.03Suggestive
hemolytic anemiaOpen Targets
0.03Suggestive
inherited retinal dystrophyOpen Targets
0.03Suggestive
thrombophiliaOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
facial painOpen Targets
0.02Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
cutaneous lupus erythematosusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
open-angle glaucomaOpen Targets
0.00Suggestive
glaucomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB3GAP1Protein interaction100%ATP6V1G1Protein interaction100%ATP6V1C2Protein interaction100%ATP6V1B1Protein interaction91%ATP6V1E1Protein interaction91%RAB3GAP2Protein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
79%
Heart
67%
Ovary
56%
Liver
46%
Lung
44%
Gene Interaction Network
Click a node to explore
DMXL1RAB3GAP1ATP6V1G1ATP6V1C2ATP6V1B1ATP6V1E1RAB3GAP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y485
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.24–0.36]
RankingsWhere DMXL1 stands among ~20K protein-coding genes
  • #9,862of 20,598
    Most Researched42
  • #1,608of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedDMXL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human cytomegalovirus degrades DMXL1 to inhibit autophagy, lysosomal acidification, and viral assembly.
PMID: 38479395
Cell Host Microbe · 2024
1.00
2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
0.90
3
DMXL1 promotes recruitment of V1-ATPase to lysosomes upon TRPML1 activation.
PMID: 40527988
Nat Struct Mol Biol · 2025
0.80
4
Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein.
PMID: 10708522
Genomics · 2000
0.70
5
A heterotrimeric protein complex assembles the metazoan V-ATPase upon dissipation of proton gradients.
PMID: 40646309
Nat Struct Mol Biol · 2025
0.60