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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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APOLD1
apolipoprotein L domain containing 1
Chromosome 12 · 12p13.1
NCBI Gene: 81575Ensembl: ENSG00000178878.14HGNC: HGNC:25268UniProt: A0AVN6
18PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmcell-cell junctionWeibel-Palade bodyregulation of membrane permeabilitybleeding disorder, vascular-typehypertensionatrial fibrillationIncreased blood pressure
✦AI Summary

APOLD1 is a vascular-specific protein that functions as a critical regulator of endothelial cell barrier integrity and pathological angiogenesis. Primary function: APOLD1 modulates endothelial barrier permeability and is required for proper organization of endothelial cell-cell junctions and cytoskeleton 1. It also plays a role in secretory autophagy 1. Mechanism: APOLD1 is highly responsive to environmental factors including growth factor stimulation and hypoxia 2. It intrinsically controls endothelial cell proliferation, though not migration, and operates through membrane remodeling processes associated with inflammatory conditions 3. Disease relevance: While dispensable for developmental and postnatal angiogenesis, APOLD1 is essential for vascular recovery under pathological conditions such as ischemic stroke and arterial occlusion 2. APOLD1 deletion impairs tumor angiogenesis by reducing vessel perfusion 2. Clinical significance: APOLD1 represents a bleeding disorder gene and has been identified as a potential therapeutic target for metabolic dysfunction-associated steatotic liver disease 4. Its upregulation in tumor endothelium and involvement in gastroparesis pathophysiology indicate broader clinical relevance 5, 6.

Sources cited
1
APOLD1 modulates endothelial barrier permeability, organizes cell-cell junctions and cytoskeleton, and modulates secretory autophagy
PMID: 35638551
2
APOLD1 is dispensable for developmental angiogenesis but controls angiogenesis under pathological conditions including ischemia and tumor growth by regulating endothelial cell proliferation
PMID: 36933174
3
APOLD1 promotes angiogenesis under inflammatory conditions through membrane remodeling mechanisms
PMID: 39768205
4
APOLD1 is identified as a potential therapeutic target for liver fibrosis in metabolic dysfunction-associated steatotic liver disease
PMID: 39426601
5
APOLD1 is associated with bleeding disorders as a candidate disease gene identified through whole-exome sequencing
PMID: 38158197
6
APOLD1 is differentially expressed in gastroparesis with immune dysregulation pathways
PMID: 30086735
Disease Associationsⓘ21
bleeding disorder, vascular-typeOpen Targets
0.40Weak
hypertensionOpen Targets
0.36Weak
atrial fibrillationOpen Targets
0.32Weak
Increased blood pressureOpen Targets
0.30Weak
essential hypertensionOpen Targets
0.24Weak
cardiovascular diseaseOpen Targets
0.24Weak
prostate carcinomaOpen Targets
0.20Weak
response to xenobiotic stimulusOpen Targets
0.19Weak
nephrotic syndromeOpen Targets
0.17Weak
benign neoplasmOpen Targets
0.16Weak
neoplasmOpen Targets
0.06Suggestive
Sjogren syndromeOpen Targets
0.04Suggestive
strokeOpen Targets
0.04Suggestive
IGA glomerulonephritisOpen Targets
0.03Suggestive
Down syndromeOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
colorectal adenocarcinomaOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
mathematical abilityOpen Targets
0.02Suggestive
Bleeding disorder, vascular-typeUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APOL6Shared pathway50%APOL5Shared pathway40%APOL4Shared pathway40%APOL3Shared pathway33%APOL1Shared pathway29%APOL2Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Brain
68%
Lung
34%
Ovary
11%
Liver
8%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
APOLD1APOL6APOL5APOL4APOL3APOL1APOL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96LR9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.73 [1.21–1.96]
RankingsWhere APOLD1 stands among ~20K protein-coding genes
  • #14,638of 20,598
    Most Researched18
  • #17,731of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedAPOLD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The vascular gene Apold1 is dispensable for normal development but controls angiogenesis under pathological conditions.
PMID: 36933174
Angiogenesis · 2023
1.00
2
Apolipoprotein-L Functions in Membrane Remodeling.
PMID: 39768205
Cells · 2024
0.90
3
Loss of APOLD1: a new vascular bleeding disorder?
PMID: 35638552
Haematologica · 2023
0.80
4
Prognostic and predictive value of super-enhancer-derived signatures for survival and lung metastasis in osteosarcoma.
PMID: 38254188
J Transl Med · 2024
0.70
5
Biological aging accelerates hepatic fibrosis: Insights from the NHANES 2017-2020 and genome-wide association study analysis.
PMID: 39426601
Ann Hepatol · 2025
0.60