MBTD1 Gene - MBT Domain Containing 1
A chromatin-associated protein involved in transcriptional regulation and potential tumor suppression.
Gene Information Card
| Symbol | MBTD1 |
|---|---|
| Full Name | MBT domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 54799 ncbi.nlm.nih.gov/gene/54799 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q05D60 |
| OMIM ID | 614476 |
| HGNC ID | 28338 |
| Aliases | dJ1103G7.1, FLJ20036, Mbt, SFMBT1 |
Description
MBTD1 (MBT domain containing 1) encodes a protein that contains four malignant brain tumor (MBT) repeats, which are known to bind methylated lysine residues on histones. The protein is thought to function as a transcriptional repressor by recruiting chromatin-modifying complexes. It is involved in the regulation of gene expression and may play a role in development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential tumor suppressor; loss of expression may contribute to oncogenesis | Limited evidence from expression studies and COSMIC mutation data |
| Prostate cancer | Altered expression and copy number changes observed | COSMIC and literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| A549 | 6.5 | Lung carcinoma |
| MCF7 | 5.9 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.1% | Predicted loss of function |
| c.1423G>A (p.Gly475Arg) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function, potentially contributing to tumorigenesis.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • chromatin binding (GO:0003682) | • negative regulation of transcription by RNA polymerase II (GO:0000122) |
Pathways
• Chromatin organization
• Transcriptional regulation by MBT domain proteins
Protein Summary
The MBTD1 protein contains four MBT repeats that recognize methylated histones, facilitating recruitment of repressive complexes to chromatin. It localizes to the nucleus and is implicated in transcriptional repression. Its role in cancer is emerging, with evidence of altered expression in several tumor types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBTD1 Knockout HEK293 Cell Line | EDJ-KQ12117 | Human | 54799 | Details Get a Quote |
| MBTD1 Knockout A-549 Cell Line | EDJ-KQ39545 | Human | 54799 | Details Get a Quote |
| MBTD1 Knockout HCT 116 Cell Line | EDJ-KQ40801 | Human | 54799 | Details Get a Quote |
| MBTD1 Knockout HeLa Cell Line | EDJ-KQ40802 | Human | 54799 | Details Get a Quote |
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