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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NSMCE1
NSE1 component of SMC5/6 complex
Chromosome 16 · 16p12.1
NCBI Gene: 197370Ensembl: ENSG00000169189.18HGNC: HGNC:29897UniProt: Q8WV22
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA damage responseprotein bindingprotein dimerization activityubiquitin protein ligase activityasthmaatopic eczemaEczematoid dermatitisallergic rhinitis
✦AI Summary

NSMCE1 (NSE1) is a RING-type E3 ubiquitin ligase component of the SMC5/6 complex essential for genome integrity maintenance 1. As part of the SMC5/6 heterodimer, NSMCE1 assembles with MAGE proteins to catalyze ubiquitin transfer from E2 enzymes to substrates, regulating DNA damage response and homologous recombination-mediated repair 2. The NSE1 RING domain is critical for Smc5/6 complex stability; mutations in this domain drastically reduce complex protein levels and cause cell growth defects, replication fork slowdown, and genomic instability 2. NSMCE1 controls fork progression independent of FANCM, demonstrating a non-conserved regulatory pathway 2. Additionally, NSMCE1 promotes proteasomal degradation of MMS19, a cytosolic iron-sulfur protein assembly component, thereby regulating DNA repair enzymes like ERCC2, FANCJ, and POLD1 that require iron-sulfur cofactors. Beyond DNA repair, NSMCE1-containing complexes suppress hepatitis B virus transcription through ubiquitin-independent proteasomal mechanisms 3. Dysregulation of NSMCE1-derived long non-coding RNAs (NSMCE1-DT) associates with colon cancer prognosis and immune microenvironment composition 45, while NSMCE1 downregulation in multiple brain regions correlates with Alzheimer's disease pathogenesis 67.

Sources cited
1
NSE1 RING domain mutations reduce Smc5/6 stability, cause growth defects and genomic instability; Smc5/6 controls fork progression independently of FANCM
PMID: 38847937
2
NSMCE1/NSE1 is a RING-type E3 ligase subunit of SMC5/6 complex with capacity to regulate proteins through ubiquitin-like modifiers
PMID: 32964921
3
NSMCE1/3 subcomplex inhibits HBV transcription via ubiquitin-independent proteasomal degradation of HBx
PMID: 41825673
4
NSMCE1-DT (lncRNA) is significantly associated with colon cancer prognosis and immune microenvironment composition
PMID: 36280825
5
NSMCE1-DT is a disulfidptosis-related lncRNA with prognostic value in colon cancer affecting immune landscape and treatment responses
PMID: 37629096
6
NSMCE1 is identified as a downregulated hub E3 ubiquitin ligase gene in multiple brain regions of Alzheimer's disease patients
PMID: 33754896
7
NSMCE1-DGKE/C17orf67 genetic interaction identified in genome-wide epistasis analysis for Alzheimer's disease
PMID: 33663605
Disease Associationsⓘ20
asthmaOpen Targets
0.47Moderate
atopic eczemaOpen Targets
0.31Weak
allergic rhinitisOpen Targets
0.09Suggestive
Eczematoid dermatitisOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.07Suggestive
psoriasis vulgarisOpen Targets
0.07Suggestive
Hyperlipoproteinemia type 1Open Targets
0.06Suggestive
skin diseaseOpen Targets
0.06Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
familial lipoprotein lipase deficiencyOpen Targets
0.04Suggestive
proteasome-associated autoinflammatory syndrome 5Open Targets
0.03Suggestive
Nasal Cavity PolypOpen Targets
0.03Suggestive
X-linked retinoschisisOpen Targets
0.03Suggestive
information processing speedOpen Targets
0.03Suggestive
Niemann-Pick disease type BOpen Targets
0.03Suggestive
familial hypobetalipoproteinemia 1Open Targets
0.03Suggestive
diabetic ketoacidosisOpen Targets
0.03Suggestive
alopecia areataOpen Targets
0.03Suggestive
childhood onset asthmaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF597Protein interaction100%SUMO4Protein interaction96%EID3Protein interaction94%SMC3Protein interaction88%NSMCE4AProtein interaction88%MAGEF1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Liver
98%
Lung
90%
Ovary
84%
Heart
76%
Bone Marrow
71%
Gene Interaction Network
Click a node to explore
NSMCE1ZNF597SUMO4EID3SMC3NSMCE4AMAGEF1
PROTEIN STRUCTURE
Preparing viewer…
PDB5HVQ · 2.92 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.53 [0.34–0.85]
RankingsWhere NSMCE1 stands among ~20K protein-coding genes
  • #9,490of 20,598
    Most Researched45
  • #7,309of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedNSMCE1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mechanism insights into the role of Smc5/6 in HBV inhibition.
PMID: 41825673
Int J Biol Macromol · 2026
1.00
2
Role of a lipid metabolism-related lncRNA signature in risk stratification and immune microenvironment for colon cancer.
PMID: 36280825
BMC Med Genomics · 2022
0.90
3
Genome-wide epistasis analysis for Alzheimer's disease and implications for genetic risk prediction.
PMID: 33663605
Alzheimers Res Ther · 2021
0.80
4
Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression.
PMID: 38847937
Cell Mol Life Sci · 2024
0.70
5
Construction and Validation of a Reliable Disulfidptosis-Related LncRNAs Signature of the Subtype, Prognostic, and Immune Landscape in Colon Cancer.
PMID: 37629096
Int J Mol Sci · 2023
0.60