TBR1 Gene Summary [Human]
This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | TBR1 |
| Official Name | T-box brain transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:11590] |
| Ensembl ID | ENSG00000136535 |
| Bio databases IDs | |
| Aliases | T-box brain transcription factor 1 |
| Synonyms | AUTS5, IDDAS, LOC100365364, LOC679107, T-box brain transcription factor 1, Tbrain 1, TES-56 |
| 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 TBR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- T-box transcription factor-associated
- protein kinase binding
- nucleic acid binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- T-box
- double-stranded DNA binding
- CASK binding domain
- DNA-binding domain of the T-box transcription factor family
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- bipolar disorder
- hereditary disorder
- susceptibility to autism type 5
- intellectual developmental disorder with autism and speech delay
- mental retardation
- complex neurodevelopmental disorder
- intellectual developmental disorder with speech delay, autism, and dysmorphic facies
- marfanoid habitus with mental retardation
- neurodevelopmental disorder
role in cell
- apoptosis
- differentiation
- quantity
- migration
- formation
- function
- abnormal morphology
- remodeling
- guidance
- generation
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
- nuclear fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- specification of organ identity
- commitment of neuronal cell to specific neuron type in forebrain
- amygdala development
- cerebral cortex development
- brain development
- positive regulation of transcription from RNA polymerase II promoter
- conditioned taste aversion
- regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- hindbrain development
- gene expression
- regulation of neuron projection development
- cell fate specification
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- chromatin DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity