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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMU1
SMU1 DNA replication regulator and spliceosomal factor
Chromosome 9 · 9p21.1
NCBI Gene: 55234Ensembl: ENSG00000122692.10HGNC: HGNC:18247UniProt: A0MNN4
123PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
U2-type precatalytic spliceosomemRNA splicing, via spliceosomenucleusprotein bindingmathematical abilitygastric cancerliver diseaseneoplasm
✦AI Summary

SMU1 is a conserved spliceosomal factor with dual roles in RNA splicing and DNA replication regulation. As a spliceosomal component, SMU1 functions within a heterotetrameric complex with RED that localizes to the B complex interface and is essential for spliceosome activation, particularly for splicing short introns by relieving physical constraints between the 5' splice site and branch site 1. Structurally, SMU1's N-terminal domain mediates critical protein-protein interactions required for pre-catalytic spliceosome assembly 2. In DNA replication, SMU1 acts as a chr9-bound negative regulator that prevents excessive DNA synthesis; SMU1 loss leads to aberrant replication and genomic instability 3. Additionally, SMU1 functions as a substrate recognition module within the CRL7 E3 ligase complex, mediating H2B monoubiquitylation to maintain sister chr9 cohesion 4. Clinically, SMU1 is upregulated in gastric carcinoma, where elevated expression correlates with poor prognosis and enhanced cell proliferation through G1/S checkpoint activation 5. In abdominal aortic aneurysm pathogenesis, SMU1 was identified as a macrophage-related diagnostic biomarker associated with pro-inflammatory signaling 6. The SMU1-RED complex also represents a host-directed antiviral target, as disrupting their interaction inhibits influenza viral mRNA splicing and replication while preserving cell viability 7.

Sources cited
1
SMU1 and RED form a heterotetrameric complex located at B dimer interfaces; new insights into SMU1 function in spliceosome assembly
PMID: 38383864
2
SMU1 and RED function as general splicing factors required for spliceosome activation, particularly for short introns
PMID: 31409787
3
SMU1 is a chromatin-bound negative regulator of DNA replication; loss causes excessive DNA synthesis and genomic instability
PMID: 23727573
4
SMU1 is a substrate recognition module in CRL7 E3 ligase complex mediating H2B ubiquitylation for chromatid cohesion
PMID: 29507117
5
SMU1 is upregulated in gastric carcinoma, correlates with poor prognosis, and promotes cell proliferation via G1/S checkpoint
PMID: 39236066
6
SMU1 is a macrophage-related diagnostic biomarker in abdominal aortic aneurysm associated with inflammatory signaling
PMID: 41815567
7
SMU1-RED complex is a host factor essential for influenza viral splicing; disrupting their interaction inhibits viral replication
PMID: 31076555
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.11Weak
gastric cancerOpen Targets
0.07Suggestive
liver diseaseOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
response to statinOpen Targets
0.03Suggestive
middle ear disorderOpen Targets
0.02Suggestive
hyperpituitarismOpen Targets
0.02Suggestive
Abnormal mastoid morphologyOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
influenzaOpen Targets
0.01Suggestive
3M syndromeOpen Targets
0.00Suggestive
Bardet-Biedl syndromeOpen Targets
0.00Suggestive
cardiomyopathyOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
respiratory system diseaseOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
Nijmegen breakage syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNRNP200Protein interaction100%SF3B2Protein interaction100%SNRPGProtein interaction100%SF3B5Protein interaction100%SF3A2Protein interaction100%PRPF8Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
56%
Ovary
55%
Heart
51%
Lung
47%
Liver
36%
Gene Interaction Network
Click a node to explore
SMU1SNRNP200SF3B2SNRPGSF3B5SF3A2PRPF8
PROTEIN STRUCTURE
Preparing viewer…
PDB6Q8J · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.10Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.10]
RankingsWhere SMU1 stands among ~20K protein-coding genes
  • #3,838of 20,598
    Most Researched123 · top quartile
  • #56of 17,882
    Most Constrained (LOEUF)0.10 · top 1%
Genes detectedSMU1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SMU1 Knockdown Suppresses Gastric Carcinoma Growth, Migration, and Invasion and Modulates the Cell Cycle.
PMID: 39236066
Cancer Control · 2024
1.00
2
Cryo-EM analyses of dimerized spliceosomes provide new insights into the functions of B complex proteins.
PMID: 38383864
EMBO J · 2024
0.90
3
Smu1 and RED are required for activation of spliceosomal B complexes assembled on short introns.
PMID: 31409787
Nat Commun · 2019
0.80
4
Comprehensive analysis for the role of macrophage-driven genes in abdominal aortic aneurysm.
PMID: 41815567
Cardiovasc Diagn Ther · 2026
0.70
5
Destabilization of the human RED-SMU1 splicing complex as a basis for host-directed antiinfluenza strategy.
PMID: 31076555
Proc Natl Acad Sci U S A · 2019
0.60