L3MBTL3 Gene - L3MBTL Histone Methyl-Lysine Binding Protein 3
A chromatin reader involved in transcriptional repression and tumor suppression.
Gene Information Card
| Symbol | L3MBTL3 |
|---|---|
| Full Name | L3MBTL histone methyl-lysine binding protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.1 |
| NCBI Gene ID | 84456 ncbi.nlm.nih.gov/gene/84456 |
| Ensembl ID | ENSG00000198944 |
| UniProt ID | Q96JM2 |
| OMIM ID | 609442 |
| HGNC ID | 23002 |
| Aliases | L3MBTL3, KIAA1794, L3MBTL3a, L3MBTL3b |
Description
L3MBTL3 is a member of the L(3)MBT-like family of chromatin readers that specifically recognize mono- and dimethylated lysine residues on histones, particularly H4K20me1/me2 and H1.4K26me1/me2. It functions as a transcriptional repressor by compacting chromatin and recruiting repressive complexes. L3MBTL3 is implicated in cell cycle regulation, differentiation, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Loss of L3MBTL3 expression or function leads to derepression of oncogenic targets and genomic instability. | COSMIC; PMID: 23535662 |
| Myelodysplastic syndromes | Somatic mutations and deletions of L3MBTL3 are recurrent in myeloid malignancies. | ClinVar; PMID: 23535662 |
| Intellectual disability | Homozygous loss-of-function variants in L3MBTL3 are associated with neurodevelopmental phenotypes. | OMIM 609442; PMID: 28397838 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 10.2 | High expression |
| HeLa (cervical) | 7.8 | Medium expression |
| HEK293 (embryonic kidney) | 6.5 | Medium expression |
| HepG2 (liver) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1573C>T (p.Arg525*) | Nonsense | <1% | Loss of function; truncation of MBT repeats |
| c.1120_1121del (p.Glu374fs) | Frameshift | <1% | Loss of function; premature termination |
| c.2032G>A (p.Glu678Lys) | Missense | <0.5% | Unknown; located in C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt MBT domains lead to loss of chromatin binding and transcriptional repression.
Gain of Function (GOF)
No gain-of-function mutations have been reported for L3MBTL3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding (GO:0003682) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • chromatin organization (GO:0006325) |
| • regulation of transcription by RNA polymerase II (GO:0006357) | • methylated histone binding (GO:0035064) |
Pathways
• Chromatin organization
• Transcriptional repression by polycomb group proteins
Protein Summary
L3MBTL3 is a 760-amino acid nuclear protein containing three malignant brain tumor (MBT) repeats that mediate binding to mono- and dimethylated lysine residues on histones. It acts as a chromatin compaction factor and transcriptional repressor, playing roles in cell cycle control, hematopoiesis, and neurodevelopment. Loss of L3MBTL3 function is associated with cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| L3MBTL3 Knockout HEK293 Cell Line | EDJ-KQ1076 | Human | 84456 | Details Get a Quote |
| L3MBTL3 Knockout A-549 Cell Line | EDJ-KQ20213 | Human | 84456 | Details Get a Quote |
| L3MBTL3 Knockout HCT 116 Cell Line | EDJ-KQ20214 | Human | 84456 | Details Get a Quote |
| L3MBTL3 Knockout HeLa Cell Line | EDJ-KQ20215 | Human | 84456 | Details Get a Quote |
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