DMBX1 Gene Summary [Human]
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | DMBX1 |
| Official Name | diencephalon/mesencephalon homeobox 1 [Source:HGNC Symbol;Acc:HGNC:19026] |
| Ensembl ID | ENSG00000197587 |
| Bio databases IDs | |
| Aliases | diencephalon/mesencephalon homeobox 1 |
| Synonyms | Atx, Cdmx, diencephalon/mesencephalon homeobox 1, MBX, OTX3, PAXB |
| 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 DMBX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- identical protein binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- desmoplastic small round cell tumor
- soft tissue sarcoma cancer
- hyperphagia
- obesity
- hyperactive behavior
- growth failure
- diabetes mellitus
- starvation
- hypophagia
regulates
- synthetic promoter
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
- reporter gene
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DMBX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- central nervous system development
- negative regulation of transcription, DNA-dependent
- adult locomotory behavior
- developmental growth
- brain development
- adult feeding behavior
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity