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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SAE1
SUMO1 activating enzyme subunit 1
Chromosome 19 · 19q13.32
NCBI Gene: 10055Ensembl: ENSG00000142230.14HGNC: HGNC:30660UniProt: Q9UBE0
134PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SUMO activating enzyme activitypositive regulation of protein sumoylationpositive regulation of protein localization to mitochondrionnucleoplasmneurodegenerative diseasemultiple sclerosislymphoid leukemialysosomal storage disease
✦AI Summary

SAE1 (SUMO1 activating enzyme subunit 1) functions as a critical component of the SUMOylation machinery, forming a heterodimer that acts as an E1 ligase for SUMO proteins 1. The SAE1-containing complex mediates ATP-dependent activation of SUMO1, SUMO2, and SUMO3, leading to formation of thioester bonds between SUMO proteins and target substrates 1. This post-translational modification regulates protein stability, trafficking, protein-protein interactions, and cellular activity rather than protein degradation 1. SAE1 has emerged as a significant oncogenic driver across multiple cancer types, with overexpression associated with poor prognosis in gastric cancer 2, hepatocellular carcinoma 3, pancreatic adenocarcinoma 4, and breast cancer 5. In hepatocellular carcinoma, SAE1 interacts with YY1 transcription factor to promote Wnt pathway activation and cellular invasion 3. SAE1 also plays a role in therapy resistance, as hyperactive SUMO signaling contributes to proteasome inhibitor resistance in multiple myeloma 6. Clinically, SAE1 represents a potential therapeutic target, as inhibition through compounds like ginkgolic acid can induce ferroptosis and reduce fibrosis 7, while SUMO pathway inhibitors show promise in overcoming drug resistance 6.

Sources cited
1
SAE1 functions as E1 ligase in SUMOylation pathway and regulates protein functions
PMID: 28197903
2
SAE1 overexpression in gastric cancer associated with poor prognosis
PMID: 38351014
3
SAE1 acts as oncogenic driver in hepatocellular carcinoma through YY1-Wnt pathway
PMID: 40513659
4
SAE1 overexpression promotes pancreatic adenocarcinoma development
PMID: 40302186
5
SAE1 overexpression associated with poor outcomes in breast cancer
PMID: 39742381
6
Hyperactive SAE1/SUMO signaling contributes to proteasome inhibitor resistance in multiple myeloma
PMID: 35917568
7
SAE1 inhibition induces ferroptosis and reduces hepatic fibrosis
PMID: 38387271
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
multiple sclerosisOpen Targets
0.37Weak
lymphoid leukemiaOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.29Weak
Genu valgumOpen Targets
0.28Weak
Genu varumOpen Targets
0.28Weak
obesityOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.22Weak
lymphoid neoplasmOpen Targets
0.20Weak
central nervous system cancerOpen Targets
0.17Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Suggestive
type 2 diabetes mellitusOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
pancreatic adenocarcinomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MOCS2Protein interaction100%RANGAP1Protein interaction100%UBE2IProtein interaction100%SUMO1Protein interaction100%PIAS2Protein interaction100%TRIM33Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
71%
Heart
66%
Lung
56%
Ovary
44%
Liver
39%
Gene Interaction Network
Click a node to explore
SAE1MOCS2RANGAP1UBE2ISUMO1PIAS2TRIM33
PROTEIN STRUCTURE
Preparing viewer…
PDB6XOG · 1.98 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.26 [0.15–0.49]
RankingsWhere SAE1 stands among ~20K protein-coding genes
  • #3,468of 20,598
    Most Researched134 · top quartile
  • #2,886of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedSAE1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ROS-mediated up-regulation of SAE1 by Helicobacter pylori promotes human gastric tumor genesis and progression.
PMID: 38351014
J Transl Med · 2024
1.00
2
SAE1 emerges as a pan-cancer driver and key regulator of HCC metastasis.
PMID: 40513659
J Adv Res · 2026
0.90
3
Ginkgolic acid inhibits the expression of SAE1 and induces ferroptosis to exert an anti-hepatic fibrosis effect.
PMID: 38387271
Phytomedicine · 2024
0.80
4
Introduction to Sumoylation.
PMID: 28197903
Adv Exp Med Biol · 2017
0.70
5
[Dermatomyositis and Autoantibodies].
PMID: 29632290
Brain Nerve · 2018
0.60