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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DOP1A
DOP1 leucine zipper like protein A
Chromosome 6 · 6q14.1
NCBI Gene: 23033Ensembl: ENSG00000083097.15HGNC: HGNC:21194UniProt: B2RWN9
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusprotein bindingendosometrans-Golgi networkAbnormality of the skeletal systemtympanic membrane perforationschizophreniaallergic rhinitis
✦AI Summary

DOP1A (Dopey1) is a leucine zipper protein that functions as a dual-lipid-regulated cargo adaptor mediating protein trafficking between the Golgi apparatus and endosomes. Mechanistically, DOP1A assembles with Mon2 into a complex that localizes to the Golgi, endolysosome, and endoplasmic reticulum exit sites by binding phosphatidylinositol-4-phosphate and phosphatidic acid 1. The DOP1A-Mon2 complex recruits kinesin-1 motor proteins to facilitate centrifugally biased bidirectional transport of membrane carriers along microtubules 1. DOP1A dysfunction has emerging clinical relevance in both neurodevelopmental and neoplastic diseases. A homozygous DOP1A variant was identified in a consanguineous family with neurodevelopmental disorders, where the mutation disrupted protein-protein binding sites critical for Golgi-endosome trafficking, potentially affecting myelin-associated protein transport during development 2. In cancer contexts, DOP1A mutations stratified prognosis in stage IV gastric cancer patients 3, and alternative DOP1A splice variants (DOPEY1v2) were detected in peripheral blood and could discriminate breast cancer patients from healthy controls, with potential utility as diagnostic biomarkers 4. These findings suggest DOP1A plays essential roles in both normal neurobiological development and cancer pathogenesis.

Sources cited
1
DOP1A-Mon2 complex localizes to Golgi and endosomes, binds dual lipids (PI4P and phosphatidic acid), and recruits kinesin-1 for membrane trafficking
PMID: 31324769
2
DOP1A homozygous variant associated with neurodevelopmental disorders and impaired Golgi-endosome protein traffic affecting myelinogenesis
PMID: 38818041
3
DOP1A mutation status stratifies prognosis in stage IV gastric cancer patients
PMID: 39043541
4
Alternative DOP1A splice variant (DOPEY1v2) expression in blood distinguishes cancer patients from healthy controls and discriminates cancer stages
PMID: 25424701
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.31Weak
tympanic membrane perforationOpen Targets
0.21Weak
schizophreniaOpen Targets
0.21Weak
allergic rhinitisOpen Targets
0.17Weak
Crohn's diseaseOpen Targets
0.13Weak
bile duct disorderOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
carotid artery diseaseOpen Targets
0.02Suggestive
pituitary cancerOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Helicobacter pylori infectious diseaseOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MON2Protein interaction71%SYS1Shared pathway33%DOP1BShared pathway20%CORO7Shared pathway20%VPS13CShared pathway20%KLHL20Shared pathway20%
Tissue Expression6 tissues
Ovary
100%
Heart
95%
Brain
72%
Bone Marrow
59%
Liver
54%
Lung
53%
Gene Interaction Network
Click a node to explore
DOP1AMON2SYS1DOP1BCORO7VPS13CKLHL20
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5JWR5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.27–0.40]
RankingsWhere DOP1A stands among ~20K protein-coding genes
  • #12,968of 20,598
    Most Researched25
  • #1,958of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedDOP1A
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Mutational and transcriptional profile predicts the prognosis of stage IV gastric cancer - Prognostic factors for metastatic gastric cancer.
PMID: 39043541
Arab J Gastroenterol · 2024
1.00
2
Whole exome sequencing identified a homozygous novel variant in
PMID: 38818041
Front Genet · 2024
0.75
3
Dopey1-Mon2 complex binds to dual-lipids and recruits kinesin-1 for membrane trafficking.
PMID: 31324769
Nat Commun · 2019
0.50
4
Diagnostic significance of alternative splice variants of REST and DOPEY1 in the peripheral blood of patients with breast cancer.
PMID: 25424701
Tumour Biol · 2015
0.25