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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LSM1
LSM1 homolog, mRNA degradation associated
Chromosome 8 Β· 8p11.23
NCBI Gene: 27257Ensembl: ENSG00000175324.11HGNC: HGNC:20472UniProt: A0A0S2Z590
63PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusprotein bindingRNA bindinghistone mRNA catabolic processGlobal developmental delayrisk-taking behaviourschizophreniagout
✦AI Summary

LSM1 is a core component of the cytoplasmic Lsm1-7-Pat1 complex that functions primarily in mRNA degradation 1. The protein localizes to discrete cytoplasmic P-bodies where it colocalizes with decapping enzymes (Dcp1/2) and the exonuclease Xrn1, forming a functional mRNA degradation machinery 1. LSM1 plays a specialized role in degrading histone mRNAs, the only non-polyadenylated eukaryotic mRNAs, and participates in general mRNA decay through deadenylation-dependent decapping 2. In reproductive biology, LSM1 is critical for maternal RNA degradation during zygotic genome activation, with paternally-specific expression facilitating early human embryonic development 3. Clinically, LSM1 variants, particularly the homozygous splice-site variant c.231+4A>C causing exon 3 skipping, are causative for a novel autosomal recessive syndromic neurodevelopmental disorder characterized by dysmorphic facial features, developmental delay, and multisystemic involvement 4. In breast cancer, elevated LSM1 expression serves as a diagnostic and prognostic marker for advanced disease with poor survival, associated with tumor-promoting metabolic reprogramming and increased macrophage infiltration 5. LSM1 inactivation sensitizes breast cancer cells to MEK inhibitors, suggesting therapeutic potential 6.

Sources cited
1
LSM1 localizes to cytoplasmic P-bodies containing mRNA degradation enzymes Dcp1/2 and Xrn1; forms complex similar to yeast Lsm1-7
PMID: 12515382
2
LSM1 associates with Pat1 to form cytosolic complex mediating mRNA decay through decapping activation
PMID: 31231973
3
LSM1 is critical for maternal RNA degradation and zygotic genome activation with paternally-specific expression
PMID: 36717546
4
LSM1 homozygous c.231+4A>C variant causes autosomal recessive syndromic neurodevelopmental disorder with dysmorphic features and developmental delay
PMID: 40204357
5
LSM1 elevation in advanced breast cancer associated with poor survival, macrophage infiltration, and altered mitochondrial metabolism
PMID: 37995895
6
High LSM1 expression in breast cancer predicts poor prognosis; LSM1 inactivation increases sensitivity to MEK inhibitors
PMID: 35692083
Disease Associationsβ“˜21
Global developmental delayOpen Targets
0.26Weak
risk-taking behaviourOpen Targets
0.15Weak
schizophreniaOpen Targets
0.14Weak
goutOpen Targets
0.14Weak
Neurodevelopmental delayOpen Targets
0.12Weak
Bicuspid aortic valveOpen Targets
0.12Weak
complex neurodevelopmental disorderOpen Targets
0.12Weak
ConstipationOpen Targets
0.12Weak
Feeding difficultiesOpen Targets
0.12Weak
Fetal pyelectasisOpen Targets
0.12Weak
HemivertebraeOpen Targets
0.12Weak
HydroureterOpen Targets
0.12Weak
Inguinal herniaOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.12Weak
Mitral stenosisOpen Targets
0.12Weak
oligohydramniosOpen Targets
0.12Weak
Penile hypospadiasOpen Targets
0.12Weak
Perimembranous ventricular septal defectOpen Targets
0.12Weak
StrabismusOpen Targets
0.12Weak
Triphalangeal thumbOpen Targets
0.12Weak
FICUS syndromeUniProt
Pathogenic Variants1
NM_014462.3(LSM1):c.118A>T (p.Asn40Tyr)Pathogenic
Global developmental delay|FICUS syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 40
View on ClinVar β†—
Related Genes
DDX3XProtein interaction100%DDX6Protein interaction100%CNOT1Protein interaction100%EDC4Protein interaction100%UPF2Protein interaction100%LSM14AProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
57%
Bone Marrow
56%
Liver
53%
Lung
44%
Ovary
42%
Gene Interaction Network
Click a node to explore
LSM1DDX3XDDX6CNOT1EDC4UPF2LSM14A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O15116
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.40LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.75 [0.42–1.40]
RankingsWhere LSM1 stands among ~20K protein-coding genes
  • #7,383of 20,598
    Most Researched63
  • #5,031of 5,498
    Most Pathogenic Variants1
  • #14,482of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedLSM1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The role of LSM1 in breast cancer: Shaping metabolism and tumor-associated macrophage infiltration.
PMID: 37995895
Pharmacol Res Β· 2023
1.00
2
The human LSm1-7 proteins colocalize with the mRNA-degrading enzymes Dcp1/2 and Xrnl in distinct cytoplasmic foci.
PMID: 12515382
RNA Β· 2002
0.90
3
PMID: 40204357
J Med Genet Β· 2025
0.80
4
Pat1 RNA-binding proteins: Multitasking shuttling proteins.
PMID: 31231973
Wiley Interdiscip Rev RNA Β· 2019
0.70
5
Integrated analysis of pivotal biomarker of LSM1, immune cell infiltration and therapeutic drugs in breast cancer.
PMID: 35692083
J Cell Mol Med Β· 2022
0.60