TBR1

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]

Full Name

TBR1 Gene(Protein Coding) T-Box, Brain 1

Function

Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039).
As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity).

Biological Process

Biological Process amygdala developmentIEA:Ensembl
Biological Process brain developmentTAS:ProtInc1 Publication
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process cerebral cortex developmentIEA:Ensembl
Biological Process chromatin remodelingIEA:Ensembl
Biological Process commitment of neuronal cell to specific neuron type in forebrainIBA:GO_Central1 Publication
Biological Process conditioned taste aversionIEA:Ensembl
Biological Process hindbrain developmentIEA:Ensembl
Biological Process histone deacetylationIEA:Ensembl
Biological Process negative regulation of DNA-templated transcriptionIDA:UniProtKB1 Publication
Biological Process positive regulation of transcription by RNA polymerase IIIEA:Ensembl
Biological Process regulation of axon guidanceIEA:Ensembl
Biological Process regulation of neuron projection developmentIBA:GO_Central1 Publication
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process specification of animal organ identityIEA:Ensembl

Cellular Location

Nucleus

Involvement in disease

Intellectual developmental disorder with autism and speech delay (IDDAS):
An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits.