MBD3L1 Gene - Methyl-CpG-Binding Domain Protein 3 Like 1
A gene encoding a protein related to methyl-CpG-binding domain proteins, involved in transcriptional regulation and chromatin remodeling.
Gene Information Card
| Symbol | MBD3L1 |
|---|---|
| Full Name | Methyl-CpG-binding domain protein 3-like 1 |
| Gene Type | protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 85548 ncbi.nlm.nih.gov/gene/85548 |
| Ensembl ID | ENSG00000188352 |
| UniProt ID | Q8N9Y4 |
| OMIM ID | 617046 |
| HGNC ID | 23220 |
| Aliases | MBD3L, MGC119055 |
Description
MBD3L1 (Methyl-CpG-binding domain protein 3-like 1) is a protein-coding gene located on chromosome 19p13.2. It encodes a protein that belongs to the methyl-CpG-binding domain (MBD) family, which are involved in reading DNA methylation marks and recruiting chromatin remodeling complexes. MBD3L1 is known to interact with the Nucleosome Remodeling and Deacetylase (NuRD) complex, potentially modulating its activity. It is expressed in various tissues and may play a role in transcriptional regulation and epigenetic silencing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Potential involvement in tumor suppression or promotion via epigenetic regulation; altered expression may affect chromatin remodeling. | Limited evidence from studies; not yet clinically validated. |
| Neurodevelopmental disorders | Possible role in neuronal gene regulation; mutations or dysregulation may contribute to neurodevelopmental phenotypes. | Inferred from functional similarity to MBD3; no direct clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression |
| Brain | Not available | Low expression |
| Kidney | Not available | Low expression |
| Liver | Not available | Low expression |
| Heart | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected in some studies |
| HEK293 | Not available | Detected in some studies |
| MCF7 | Not available | Detected in some studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of protein function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown effect; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the MBD domain or protein stability may lead to loss of function, impairing chromatin remodeling.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Possible if mutant protein interferes with NuRD complex assembly, but not confirmed.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • chromatin binding |
| • transcription corepressor activity | • nucleosome remodeling |
Pathways
• Chromatin organization
• Epigenetic regulation of gene expression
Protein Summary
The MBD3L1 protein is a 265-amino acid protein that contains a methyl-CpG-binding domain (MBD) and a coiled-coil domain. It is localized to the nucleus and interacts with the NuRD complex, a major chromatin remodeling complex. MBD3L1 may compete with MBD3 for binding to the NuRD complex, thereby modulating its activity. It is involved in transcriptional repression and may play a role in DNA damage response and cell cycle regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBD3L1 Knockout HEK293 Cell Line | EDJ-KQ9649 | Human | 85509 | Details Get a Quote |
| MBD3L1 Knockout HeLa Cell Line | EDJ-KQ57730 | Human | 85509 | Details Get a Quote |
| MBD3L1 Knockout A-549 Cell Line | EDJ-KQ66227 | Human | 85509 | Details Get a Quote |
| MBD3L1 Knockout HCT 116 Cell Line | EDJ-KQ74649 | Human | 85509 | Details Get a Quote |
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