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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LSM11
LSM11, U7 small nuclear RNA associated
Chromosome 5 · 5q33.3
NCBI Gene: 134353Ensembl: ENSG00000155858.6HGNC: HGNC:30860UniProt: P83369
37PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
telomerase holoenzyme complexprotein bindingU7 snRNA bindingmRNA 3'-end processing by stem-loop binding and cleavageneurodegenerative diseaseAicardi-Goutieres syndrome 8Aicardi-Goutieres syndromeAicardi-Goutières syndrome
✦AI Summary

LSM11 is a critical component of the U7 small nuclear ribonucleoprotein (snRNP) complex that plays an essential role in histone 3'-end pre-mRNA processing 1. The protein specifically binds to the Sm-binding site of U7 snRNA and interacts with FLASH protein to recruit the endonuclease CPSF73, forming the catalytically active holo U7 snRNP complex 23. This mechanism is crucial for proper 3'-end cleavage of replication-dependent histone pre-mRNAs, which differs from typical mRNA polyadenylation 4. LSM11 contains dual binding sites that interact with the zinc finger processing factor ZFP100, enhancing histone pre-mRNA processing efficiency 5. Disease-wise, biallelic mutations in LSM11 cause Aicardi-Goutières syndrome type 8, a rare autoimmune disorder characterized by inappropriate type I interferon activation 61. These mutations disrupt histone pre-mRNA processing, leading to altered linker histone stoichiometry and enhanced cGAS-STING pathway activation 1. Clinically, LSM11 has been identified as essential for cancer stem cell growth in pediatric high-grade gliomas, suggesting potential therapeutic targeting opportunities 7. Additionally, LSM11 is regulated by miR146a during chondrogenesis of mesenchymal stem cells 8.

Sources cited
1
LSM11 is component of U7 snRNP complex involved in histone 3'-end pre-mRNA processing and mutations cause Aicardi-Goutières syndrome
PMID: 33230297
2
LSM11 forms catalytically active holo U7 snRNP with FLASH and CPSF73
PMID: 31819999
3
LSM11 interacts with FLASH protein for histone pre-mRNA processing
PMID: 19854135
4
LSM11 and FLASH recruit CPSF-73 for endonucleolytic cleavage of histone pre-mRNAs
PMID: 21245389
5
LSM11 has dual binding contacts with ZFP100 processing factor
PMID: 15824063
6
LSM11 mutations cause Aicardi-Goutières syndrome type 8
PMID: 37515439
7
LSM11 is essential for cancer stem cell growth in pediatric high-grade gliomas
PMID: 37161535
8
LSM11 is regulated by miR146a during chondrogenesis
PMID: 36939200
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.53Moderate
Aicardi-Goutieres syndrome 8Open Targets
0.50Moderate
Aicardi-Goutieres syndromeOpen Targets
0.37Weak
Aicardi-Goutières syndromeOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.06Suggestive
dysthymic disorderOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
age-related macular degenerationOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.02Suggestive
Increased blood pressureOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
Hodgkins lymphomaOpen Targets
0.02Suggestive
severe malarial anemiaOpen Targets
0.01Suggestive
Bartsocas-Papas syndrome 1Open Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
agingOpen Targets
0.01Suggestive
microphthalmia with limb anomaliesOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
ependymomaOpen Targets
0.00Suggestive
Aicardi-Goutieres syndrome 8UniProt
Pathogenic Variants1
NM_173491.4(LSM11):c.631G>A (p.Gly211Ser)Pathogenic
Aicardi-Goutieres syndrome 8
☆☆☆☆2025→ Residue 211
View on ClinVar ↗
Related Genes
SNRPGProtein interaction100%SNRPD1Protein interaction100%SNRPD2Protein interaction100%SNRPFProtein interaction100%SNRPBProtein interaction100%NVLProtein interaction97%
Tissue Expression6 tissues
Brain
100%
Ovary
41%
Bone Marrow
33%
Lung
23%
Heart
21%
Liver
20%
Gene Interaction Network
Click a node to explore
LSM11SNRPGSNRPD1SNRPD2SNRPFSNRPBNVL
PROTEIN STRUCTURE
Preparing viewer…
PDB8G1U · 2.83 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.39–0.93]
RankingsWhere LSM11 stands among ~20K protein-coding genes
  • #10,646of 20,598
    Most Researched37
  • #5,196of 5,498
    Most Pathogenic Variants1
  • #8,589of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedLSM11
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
PMID: 37515439
Scand J Immunol · 2023
1.00
2
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
PMID: 33230297
Nat Genet · 2020
0.90
3
Composition and processing activity of a semi-recombinant holo U7 snRNP.
PMID: 31819999
Nucleic Acids Res · 2020
0.80
4
FLASH, a proapoptotic protein involved in activation of caspase-8, is essential for 3' end processing of histone pre-mRNAs.
PMID: 19854135
Mol Cell · 2009
0.70
5
FLASH is required for the endonucleolytic cleavage of histone pre-mRNAs but is dispensable for the 5' exonucleolytic degradation of the downstream cleavage product.
PMID: 21245389
Mol Cell Biol · 2011
0.60