HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SORT1
sortilin 1
Chromosome 1 · 1p13.3|1p21.3-p13.1
NCBI Gene: 6272Ensembl: ENSG00000134243.13HGNC: HGNC:11186UniProt: Q99523
242PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membrane to endosome transportGolgi to lysosome transportGolgi apparatuscoronary artery diseasemyocardial infarctionHypercholesterolemiametabolic disease
✦AI Summary

SORT1 encodes sortilin, a type I transmembrane receptor that functions as both a sorting receptor in the Golgi compartment and a clearance receptor at the cell surface. The protein plays critical roles in cardiovascular health and lipid metabolism. SORT1 is strongly associated with cardiovascular disease risk, with genome-wide association studies identifying the 1p13.3 locus (containing SORT1) as linked to LDL-cholesterol levels, coronary artery disease, and calcific aortic stenosis 12. Mechanistically, sortilin regulates hepatic lipid metabolism through VLDL secretion and facilitates lysosomal degradation of CES1, which is crucial for triglyceride breakdown 3. The protein undergoes chaperone-mediated autophagy via recognition of KFERQ-like motifs, and disruption of this degradation pathway leads to impaired lipid homeostasis 3. In cardiovascular pathology, sortilin promotes calcific aortic valve disease by inducing valvular interstitial cell transformation into inflammatory myofibroblastic-osteogenic phenotypes, contributing to fibrosis and calcification 4. Additionally, SORT1 expression in vascular smooth muscle cells is critical for maintaining normal aortic wall function, with genetic variants providing protection against cardiovascular disease in cognitively healthy centenarians 56.

Sources cited
1
SORT1 locus linked to cardiovascular phenotypes and LDL-cholesterol metabolism
PMID: 25702058
2
SORT1 association with calcific aortic stenosis and apolipoprotein B causality
PMID: 37038246
3
SORT1 regulation by chaperone-mediated autophagy and role in CES1-dependent triglyceride hydrolysis
PMID: 39611307
4
Sortilin promotes aortic valve disease through valvular interstitial cell transformation
PMID: 36660854
5
SORT1 expression in vascular smooth muscle cells critical for aortic wall function
PMID: 35762613
6
SORT1 protective variants enriched in cognitively healthy centenarians
PMID: 38634500
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.62Moderate
myocardial infarctionOpen Targets
0.59Moderate
HypercholesterolemiaOpen Targets
0.59Moderate
metabolic diseaseOpen Targets
0.58Moderate
angina pectorisOpen Targets
0.58Moderate
hyperlipidemiaOpen Targets
0.57Moderate
Myocardial IschemiaOpen Targets
0.57Moderate
coronary atherosclerosisOpen Targets
0.57Moderate
cardiovascular diseaseOpen Targets
0.57Moderate
Abdominal Aortic AneurysmOpen Targets
0.56Moderate
heart failureOpen Targets
0.54Moderate
heart diseaseOpen Targets
0.54Moderate
familial hyperlipidemiaOpen Targets
0.53Moderate
peripheral vascular diseaseOpen Targets
0.52Moderate
metabolic syndromeOpen Targets
0.50Moderate
familial hypercholesterolemiaOpen Targets
0.50Moderate
familial lipoprotein lipase deficiencyOpen Targets
0.50Moderate
diabetes mellitusOpen Targets
0.47Moderate
strokeOpen Targets
0.47Moderate
peripheral arterial diseaseOpen Targets
0.47Moderate
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BDNFProtein interaction100%NGFProtein interaction100%NGFRProtein interaction100%NTF3Protein interaction100%NTF4Protein interaction100%NTRK1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
57%
Lung
29%
Bone Marrow
13%
Liver
3%
Ovary
2%
Gene Interaction Network
Click a node to explore
SORT1BDNFNGFNGFRNTF3NTF4NTRK1
PROTEIN STRUCTURE
Preparing viewer…
PDB3F6K · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.83Intermediate
Observed/Expected LoF0.36 [0.25–0.55]
RankingsWhere SORT1 stands among ~20K protein-coding genes
  • #1,619of 20,598
    Most Researched242 · top 10%
  • #3,555of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedSORT1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Bayesian test for colocalisation between pairs of genetic association studies using summary statistics.
PMID: 24830394
PLoS Genet · 2014
1.00
2
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.
PMID: 37038246
Eur Heart J · 2023
0.90
3
Cognitively healthy centenarians are genetically protected against Alzheimer's disease.
PMID: 38634500
Alzheimers Dement · 2024
0.80
4
Impaired chaperone-mediated autophagy leads to abnormal SORT1 (sortilin 1) turnover and CES1-dependent triglyceride hydrolysis.
PMID: 39611307
Autophagy · 2025
0.70
5
Novel Transcriptional and DNA Methylation Abnormalities of SORT1 Gene in Non-Small Cell Lung Cancer.
PMID: 38893272
Cancers (Basel) · 2024
0.68