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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NSMCE4A
NSE4A component of SMC5/6 complex
Chromosome 10 · 10q26.13
NCBI Gene: 54780Ensembl: ENSG00000107672.16HGNC: HGNC:25935UniProt: Q9NXX6
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoplasmSmc5-Smc6 complexDNA damage responseneurodegenerative diseasealcohol drinkingAbruptio Placentaemalnutrition
✦AI Summary

NSMCE4A is a kleisin subunit component of the SMC5/6 complex, a structural maintenance of chr10 complex essential for genome maintenance 1. The complex functions primarily in DNA double-strand break repair via homologous recombination and mediates protein sumoylation of shelterin complex components, with proposed roles in telomere maintenance through alternative lengthening mechanisms 2. NSMCE4A interacts with topoisomerase TOP3A 2 and GPS1, a component of the COP9 signalosome, linking SMC5/6 to cullin deNEDDylation during DNA damage response 1. Depletion of GPS1 increases SMC5/6 accumulation at DNA damage sites, suggesting NSMCE4A participates in regulating repair complex dynamics 1. Evolutionary analysis reveals NSMCE4A exhibits positive selection signals in mammals, potentially reflecting host-pathogen arms race pressures 3. Additionally, NSMCE4A shows adaptive introgression in Iberian grey wolves carrying dog-derived alleles under positive selection 4. Clinically, NSMCE4A haploinsufficiency through 10q26.1 deletion associates with neurodevelopmental impairment, growth retardation, and facial dysmorphism 5, highlighting its importance in normal development and genome stability maintenance.

Sources cited
1
NSMCE4A interacts with topoisomerase TOP3A in human cells, relevant to DNA damage and repair processes
PMID: 41043513
2
NSMCE4A (kleisin subunit of SMC5/6) interacts with GPS1/COP9 signalosome component; SMC5/6 complex involved in homologous recombination repair
PMID: 32384871
3
NSMCE4A exhibits positive selection signals in mammalian evolution, suggesting adaptive pressure on SMC5/6 complex genes
PMID: 39336750
4
NSMCE4A carries dog-derived introgressed alleles under positive selection in Iberian grey wolves
PMID: 39791197
5
NSMCE4A haploinsufficiency through 10q26.1 deletion associates with microcephaly, growth and psychomotor retardation, and facial dysmorphism
PMID: 26114870
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
alcohol drinkingOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.29Weak
malnutritionOpen Targets
0.14Weak
conjunctivitisOpen Targets
0.12Weak
allergic conjunctivitisOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
Dupuytren ContractureOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
corneal ulcerOpen Targets
0.03Suggestive
fibroblastic disorderOpen Targets
0.03Suggestive
lumbar disc herniationOpen Targets
0.03Suggestive
Palmar FibromatosisOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
septic shockOpen Targets
0.01Suggestive
infectionOpen Targets
0.00Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
myelodysplastic syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMC3Protein interaction100%SUMO4Protein interaction96%EID3Protein interaction94%NSMCE1Protein interaction88%PJA1Protein interaction87%ZNF597Protein interaction84%
Tissue Expression6 tissues
Ovary
100%
Liver
98%
Bone Marrow
84%
Lung
77%
Heart
65%
Brain
28%
Gene Interaction Network
Click a node to explore
NSMCE4ASMC3SUMO4EID3NSMCE1PJA1ZNF597
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NXX6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.63–1.25]
RankingsWhere NSMCE4A stands among ~20K protein-coding genes
  • #9,917of 20,598
    Most Researched42
  • #13,238of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedNSMCE4A
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Proteomic Analysis of Human Topoisomerases Reveals Their Distinct and Diverse Cellular Functions.
PMID: 41043513
Mol Cell Proteomics · 2025
1.00
2
Positive Selection Drives the Evolution of the Structural Maintenance of Chromosomes (SMC) Complexes.
PMID: 39336750
Genes (Basel) · 2024
0.83
3
[Bioinformatics analysis and construction of eukaryotic expression vector of MAGE-D4].
PMID: 33148382
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi · 2020
0.67
4
Potential Adaptive Introgression From Dogs in Iberian Grey Wolves (Canis lupus).
PMID: 39791197
Mol Ecol · 2025
0.50
5
Interaction between NSMCE4A and GPS1 links the SMC5/6 complex to the COP9 signalosome.
PMID: 32384871
BMC Mol Cell Biol · 2020
0.33