L3MBTL1 Gene
L3MBTL1: A Chromatin Reader in Transcriptional Regulation and Cancer
Gene Information Card
| Symbol | L3MBTL1 |
|---|---|
| Full Name | L3MBTL1 histone methyl-lysine binding protein |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 26013 ncbi.nlm.nih.gov/gene/26013 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y468 |
| OMIM ID | 608251 |
| HGNC ID | 15958 |
| Aliases | L3MBTL, dL3MBTL, H-l(3)mbt-like 1 |
Description
L3MBTL1 (L3MBTL1 histone methyl-lysine binding protein) is a protein-coding gene that encodes a member of the Polycomb group (PcG) family. The protein functions as a chromatin reader that specifically binds to mono- and dimethylated lysine residues on histones, particularly histone H4 lysine 20 (H4K20me1/me2) and histone H1.4 lysine 26 (H1.4K26me1/me2). Through this binding, L3MBTL1 mediates chromatin compaction and transcriptional repression, playing a role in cell cycle regulation, differentiation, and genomic stability. It is considered a putative tumor suppressor, with loss or mutation implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic syndrome (MDS) | Loss of L3MBTL1 expression via deletion or mutation may contribute to aberrant hematopoiesis and disease progression. | ClinVar, COSMIC |
| Acute myeloid leukemia (AML) | Somatic mutations and deletions of L3MBTL1 are recurrent in AML, suggesting a tumor suppressor role. | COSMIC, NCBI |
| Chronic lymphocytic leukemia (CLL) | Decreased L3MBTL1 expression is associated with poor prognosis and disease progression. | OMIM, NCBI |
| Breast cancer | Epigenetic silencing or loss of L3MBTL1 may promote tumorigenesis through deregulated cell cycle control. | COSMIC, NCBI |
| Colorectal cancer | Mutations and reduced expression of L3MBTL1 have been reported, potentially affecting chromatin regulation. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.1 | Low |
| Brain | 6.3 | Low |
| Lung | 5.4 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 8.7 | Medium expression |
| HeLa (cervical cancer) | 7.1 | Medium expression |
| MCF7 (breast cancer) | 5.6 | Low expression |
| HCT116 (colorectal cancer) | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.789_790del (p.Glu264fs) | Frameshift | <0.1% | Loss of function; premature stop |
| c.1567G>A (p.Gly523Arg) | Missense | <0.1% | Unknown; possibly damaging |
| c.2011C>T (p.Arg671Trp) | Missense | <0.1% | Unknown; possibly damaging |
| Whole gene deletion | Copy number loss | <1% | Loss of function; haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and whole gene deletions lead to loss of L3MBTL1 protein, impairing chromatin compaction and transcriptional repression, contributing to tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for L3MBTL1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for L3MBTL1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin organization
• Transcriptional regulation by Polycomb group proteins
• H4K20 methylation and compaction
• Cell cycle regulation
Protein Summary
The L3MBTL1 protein is a 757-amino acid chromatin reader containing three MBT (malignant brain tumor) repeats that specifically recognize mono- and dimethylated lysine residues on histones, particularly H4K20me1/me2 and H1.4K26me1/me2. It localizes to the nucleus and mediates chromatin compaction, leading to transcriptional repression of target genes involved in cell cycle progression and differentiation. L3MBTL1 is considered a tumor suppressor, and its loss or mutation is associated with hematologic malignancies and solid tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| L3MBTL1 Knockout HEK293 Cell Line | EDJ-KQ51156 | Human | 26013 | Details Get a Quote |
| L3MBTL1 Knockout HeLa Cell Line | EDJ-KQ55865 | Human | 26013 | Details Get a Quote |
| L3MBTL1 Knockout A-549 Cell Line | EDJ-KQ64356 | Human | 26013 | Details Get a Quote |
| L3MBTL1 Knockout HCT 116 Cell Line | EDJ-KQ72805 | Human | 26013 | Details Get a Quote |
