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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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L3MBTL1
L3MBTL histone methyl-lysine binding protein 1
Chromosome 20 Β· 20q13.12
NCBI Gene: 26013Ensembl: ENSG00000185513.18HGNC: HGNC:15905UniProt: A0A0A0MRR4
46PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
condensed chromosomenuclear bodyprotein bindingchromatin bindinggenetic disordertype 2 diabetes mellitusthrombophiliaAnxiety
✦AI Summary

L3MBTL1 is a Polycomb group protein that functions as an epigenetic 'reader' of histone methylation marks. It specifically recognizes and binds mono- and dimethylated lysine residues on histone H1b (at Lys-26) and histone H4 (at Lys-20), as well as monomethylated p53 and RB1, leading to chr20 condensation and transcriptional repression 1. The nucleosome context significantly influences L3MBTL1 binding preferences, with full nucleosome substrates providing greater specificity than histone peptides alone 2. Clinically, L3MBTL1 demonstrates relevance across multiple disease contexts. Loss of L3MBTL1 protects against proteotoxicity from misfolded proteins associated with amyotrophic lateral sclerosis and frontotemporal dementia, indicating its role in p53-dependent protein quality control 3. Genome-wide sequencing identified L3MBTL1 as a novel subtype-specific risk gene for frontotemporal lobar degeneration with TDP-43 pathology 4. In lung adenocarcinoma, L3MBTL1 promotes acquired resistance to Osimertinib by regulating chr20 structure and DNA damage response through H4K20me2 binding, competing with 53BP1 1. Higher L3MBTL1 expression correlates with improved breast cancer survival and lower disease recurrence risk 5. Additionally, L3MBTL1 is an imprinted gene whose dysregulation in assisted reproductive technology offspring may influence developmental outcomes through altered methylation patterns 6.

Sources cited
1
L3MBTL1 is a polycomb protein that binds H4K20me2, regulates chromatin structure and DNA damage response, and promotes Osimertinib resistance in lung cancer by competing with 53BP1
PMID: 39231972
2
Nucleosome context refines L3MBTL1 chromatin reader binding preferences compared to histone peptide substrates
PMID: 41182902
3
L3MBTL1 regulates p53-dependent protein quality control systems; loss of L3MBTL1 protects against proteotoxicity from mutant SOD1 and C9orf72 dipeptide repeats in ALS/FTD
PMID: 31061493
4
L3MBTL1 identified as a novel subtype-specific FTLD-TDP risk gene through rare variant analysis in genome-wide sequencing study
PMID: 40280976
5
Higher L3MBTL1 expression is associated with favorable breast cancer survival outcomes, lower grade tumors, and reduced disease recurrence risk
PMID: 21837478
6
L3MBTL1 is an imprinted gene with altered expression and methylation patterns in assisted reproductive technology offspring
PMID: 33515207
Disease Associationsβ“˜20
genetic disorderOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
thrombophiliaOpen Targets
0.06Suggestive
AnxietyOpen Targets
0.03Suggestive
neuroblastomaOpen Targets
0.03Suggestive
depressive disorderOpen Targets
0.03Suggestive
small cell lung carcinomaOpen Targets
0.02Suggestive
pyogenic granulomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
myeloid neoplasmOpen Targets
0.01Suggestive
polycythemia veraOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
myelodysplastic syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
myeloproliferative disorderOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_001377303.1(L3MBTL1):c.2041G>T (p.Glu681Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2019β†’ Residue 681
View on ClinVar β†—
Related Genes
KMT5AProtein interaction100%H1-4Protein interaction99%H1-5Protein interaction99%CBX3Protein interaction99%H4C9Protein interaction98%H4C2Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
85%
Heart
36%
Lung
30%
Liver
26%
Brain
21%
Gene Interaction Network
Click a node to explore
L3MBTL1KMT5AH1-4H1-5CBX3H4C9H4C2
PROTEIN STRUCTURE
Preparing viewer…
PDB1OZ2 Β· 1.55 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.56–0.84]
RankingsWhere L3MBTL1 stands among ~20K protein-coding genes
  • #9,340of 20,598
    Most Researched46
  • #5,126of 5,498
    Most Pathogenic Variants1
  • #7,229of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedL3MBTL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
PMID: 40280976
Nat Commun Β· 2025
1.00
2
L3MBTL1, a polycomb protein, promotes Osimertinib acquired resistance through epigenetic regulation of DNA damage response in lung adenocarcinoma.
PMID: 39231972
Cell Death Dis Β· 2024
0.90
3
Nucleosome context regulates chromatin reader preference.
PMID: 41182902
Nucleic Acids Res Β· 2025
0.80
4
L3MBTL1 regulates ALS/FTD-associated proteotoxicity and quality control.
PMID: 31061493
Nat Neurosci Β· 2019
0.70
5
Physical activity and breast cancer survival: an epigenetic link through reduced methylation of a tumor suppressor gene L3MBTL1.
PMID: 21837478
Breast Cancer Res Treat Β· 2012
0.60