MBTD1 Gene Summary [Human]
Enables methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MBTD1 |
| Official Name | mbt domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19866] |
| Ensembl ID | ENSG00000011258 |
| Bio databases IDs | |
| Aliases | mbt domain containing 1 |
| Synonyms | hemp, MBTD1 isoform 3, mbt domain containing 1, SA49P01 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MBTD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- binding protein
- Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
- mbt repeat
- protein binding activity, bridging
- protein binding
- malignant brain tumor (MBT) repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- coronary artery disease
- hypoplasia
- congenital malformation
- primary antiphospholipid antibody syndrome
regulated by
- histone H4
- RPL13A
role in cell
- expression in
- quantity
- number
- cell cycle progression
- proliferative capacity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MBTD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- regulation of double-strand break repair
- positive regulation of transcription, DNA-dependent
- double-strand break repair via homologous recombination
- regulation of apoptotic process
- regulation of cell cycle
- chromatin organization
- embryonic skeletal system development
Cellular Component
Where in the cell the gene product is active
- nucleus
- NuA4 histone acetyltransferase complex
- site of double-strand break
- nucleosome
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- methylated histone residue binding
- chromatin binding