HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 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.
SEH1L
SEH1 like nucleoporin
Chromosome 18 · 18p11.21
NCBI Gene: 81929Ensembl: ENSG00000085415.17HGNC: HGNC:30379UniProt: Q96EE3
109PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomal membraneprotein bindingnuclear pore outer ringGATOR2 complexinfluenzaHIV infectionviral diseaseHistiocytosis
✦AI Summary

SEH1L (SEH1 like nucleoporin) functions as a structural component of the GATOR2 complex, a nutrient-sensing hub that regulates mTORC1 signaling in response to amino acid availability 1. Within GATOR2, SEH1L, along with SEC13, stabilizes the complex's cage-like architecture through β-propeller blade donation, facilitating interactions with amino acid sensors SESN2 and CASTOR1 1. The GATOR2 complex activates mTORC1 by inhibiting GATOR1, and in amino acid-rich conditions, GATOR2 mediates ubiquitination of GATOR1 components, suppressing their activity 2. Conversely, amino acid deprivation inhibits GATOR2, allowing GATOR1 activation and mTORC1 suppression 3. Beyond mTOR regulation, SEH1L components interact with SUMO proteins through WD40 domains in an SIM-independent manner 4. Clinically, SEH1L upregulation correlates with poor prognosis across multiple cancers, and SEH1L knockdown suppresses hepatocellular carcinoma progression via ferroptosis induction through the ATF3/HMOX1/GPX4 axis 5. Additionally, SEH1L serves as a diagnostic biomarker for osteoarthritis, with reduced expression in OA patients and involvement in immune cell infiltration 67.

Sources cited
1
SEH1L is a component of the five-subunit GATOR2 complex with a cage-like architecture; SEH1L stabilizes GATOR2 through β-propeller blade donation
PMID: 35831510
2
SEH1L is part of GATOR2 complex that negatively regulates GATOR1 to control mTORC1 signaling in response to amino acids
PMID: 23723238
3
SEH1L is a component of human GATOR2 that interacts with amino acid sensors CASTOR1 and Sestrin2 to regulate mTORC1
PMID: 40742811
4
SEH1L binds SUMO through WD40 domains in an SIM-independent manner
PMID: 40367183
5
SEH1L is upregulated in hepatocellular carcinoma and associated with poor prognosis; SEH1L silencing induces ferroptosis via ATF3/HMOX1/GPX4 axis
PMID: 39095556
6
SEH1L is a diagnostic biomarker for osteoarthritis with higher expression in healthy donors; knockdown suppresses chondrocyte proliferation
PMID: 40034747
7
SEH1L is a key ubiquitination-related gene involved in mTOR pathway regulation in osteoarthritis and associated with immune cell infiltration
PMID: 38505924
Disease Associationsⓘ20
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
COVID-19Open Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
intelligenceOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.29Weak
schizophreniaOpen Targets
0.26Weak
hypothyroidismOpen Targets
0.23Weak
inflammatory bowel diseaseOpen Targets
0.23Weak
self-injurious ideationOpen Targets
0.16Weak
tooth agenesisOpen Targets
0.11Weak
cancerOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.03Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LAMTOR3Protein interaction100%POM121Protein interaction100%SESN1Protein interaction100%LAMTOR1Protein interaction100%GLE1Protein interaction99%NUP88Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
46%
Liver
44%
Lung
34%
Ovary
33%
Heart
27%
Gene Interaction Network
Click a node to explore
SEH1LLAMTOR3POM121SESN1LAMTOR1GLE1NUP88
PROTEIN STRUCTURE
Preparing viewer…
PDB9LWF · 3.41 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.26Tolerant
Observed/Expected LoF0.41 [0.28–0.63]
RankingsWhere SEH1L stands among ~20K protein-coding genes
  • #4,382of 20,598
    Most Researched109 · top quartile
  • #4,435of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedSEH1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure of the nutrient-sensing hub GATOR2.
PMID: 35831510
Nature · 2022
1.00
2
SEH1L siliencing induces ferroptosis and suppresses hepatocellular carcinoma progression via ATF3/HMOX1/GPX4 axis.
PMID: 39095556
Apoptosis · 2024
0.90
3
A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1.
PMID: 23723238
Science · 2013
0.80
4
Exploration and verification of circulating diagnostic biomarkers in osteoarthritis based on machine learning.
PMID: 40034747
Front Genet · 2025
0.70
5
Identification of Key Ubiquitination-Related Genes and Their Association with Immune Infiltration in Osteoarthritis Based on the mRNA-miRNA Network.
PMID: 38505924
Crit Rev Immunol · 2024
0.60