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Tbr1 T-box brain transcription factor 1 [ Mus musculus (house mouse) ]

Gene ID: 21375, updated on 21-Apr-2024

Summary

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Official Symbol
Tbr1provided by MGI
Official Full Name
T-box brain transcription factor 1provided by MGI
Primary source
MGI:MGI:107404
See related
Ensembl:ENSMUSG00000035033 AllianceGenome:MGI:107404
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including brain development; conditioned taste aversion; and specification of animal organ identity. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and sensory organ. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TBR1 (T-box brain transcription factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 13.7), CNS E14 (RPKM 13.4) and 4 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 C1.3; 2 35.56 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (61633228..61644458)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (61802863..61814114)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E808 Neighboring gene STARR-positive B cell enhancer ABC_E5924 Neighboring gene STARR-positive B cell enhancer ABC_E506 Neighboring gene STARR-positive B cell enhancer ABC_E7821 Neighboring gene TRAF family member-associated Nf-kappa B activator Neighboring gene STARR-positive B cell enhancer mm9_chr2:61481154-61481454 Neighboring gene STARR-seq mESC enhancer starr_04632 Neighboring gene STARR-positive B cell enhancer ABC_E4457 Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 Neighboring gene STARR-seq mESC enhancer starr_04635 Neighboring gene predicted gene, 39837 Neighboring gene zinc finger protein 277 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Tbr1 Misexpression Alters Neuronal Development in the Cerebral Cortex. Crespo I, et al. Mol Neurobiol, 2022 Sep. PMID 35781633, Free PMC Article
  2. Dietary zinc supplementation rescues fear-based learning and synaptic function in the Tbr1(+/-) mouse model of autism spectrum disorders. Lee K, et al. Mol Autism, 2022 Mar 18. PMID 35303947, Free PMC Article
  3. Interhemispheric Connectivity Potentiates the Basolateral Amygdalae and Regulates Social Interaction and Memory. Huang TN, et al. Cell Rep, 2019 Oct 1. PMID 31577954
  4. Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice. Huang TN, et al. Mol Autism, 2019. PMID 30792833, Free PMC Article
  5. Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity. Fazel Darbandi S, et al. Neuron, 2018 Nov 21. PMID 30318412, Free PMC Article

See all (779) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tbr1 Misexpression Alters Neuronal Development in the Cerebral Cortex.
    Title: Tbr1 Misexpression Alters Neuronal Development in the Cerebral Cortex.
  2. Enhancing WNT Signaling Restores Cortical Neuronal Spine Maturation and Synaptogenesis in Tbr1 Mutants.
    Title: Enhancing WNT Signaling Restores Cortical Neuronal Spine Maturation and Synaptogenesis in Tbr1 Mutants.
  3. Tbr1 is genetically ablated during retinal development, these two RGC groups cannot develop. Ectopically expressing Tbr1 in M4 ipRGCs during development alters dendritic branching and density but not the inner plexiform layer stratification level.
    Title: Essential Roles of Tbr1 in the Formation and Maintenance of the Orientation-Selective J-RGCs and a Group of OFF-Sustained RGCs in Mouse.
  4. Tbr1 gene dosage regulates neocortex layer 6 connectivity.
    Title: Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity.
  5. Two transmembrane molecules, Sorcs3 and Cdh8, act as effectors of the Tbr1-controlled lamination program
    Title: Tbr1 instructs laminar patterning of retinal ganglion cell dendrites.
  6. Tbr1 haploinsufficiency specifically impaired olfactory discrimination but not olfactory sensation. Tbr1+/- mice exhibited abnormal olfactory bulbs.
    Title: Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice.
  7. Study induced neuronal differentiation of mouse bone mesenchymal stem cells (bMSCs) into neuron-like cells in vitro. miR-122-5p was well complementary with the target site of Tbr1 mRNA3'UTR and could inhibit Tbr1 expression by binding to its 3'UTR. Expressions of Tbr1 mRNA and protein were decreased. Overexpression of miR-122-5p downregulated the expressions of Tbr1, NSE, and TAU.
    Title: The role of miR-122-5p in negatively regulating T-box brain 1 expression on the differentiation of mouse bone mesenchymal stem cells.
  8. CASK T740A mutation attenuated the interaction between CASK and TBR1 in the brain. However, CASK T740A mice were generally healthy, without obvious defects in brain morphology. The most dramatic defect among the mutant mice was in extinction of associative memory, though acquisition was normal.
    Title: Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice.
  9. Mice lacking Tbr1 have Ca2+ waves in the cortex at normal frequencies and with normal neurotransmitter dependencies.
    Title: Distinct calcium signals in developing cortical interneurons persist despite disorganization of cortex by Tbr1 KO.
  10. Our findings highlight a TBR1-regulated network of autism spectrum disorders genes in the developing neocortex that are relatively intolerant to loss-of-function mutations, indicating that these genes may play critical roles in normal cortical development.
    Title: TBR1 regulates autism risk genes in the developing neocortex.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within amygdala development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in commitment of neuronal cell to specific neuron type in forebrain IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within commitment of neuronal cell to specific neuron type in forebrain IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within conditioned taste aversion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within hindbrain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within neuron differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of axon guidance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within specification of animal organ identity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
T-box brain protein 1
Names
T-box brain gene 1
T-brain-1
TBR-1
TES-56

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001418366.1 → NP_001405295.1  T-box brain protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL845291
    UniProtKB/TrEMBL
    A2AR81
    Related
    ENSMUSP00000099798.5, ENSMUST00000102737.5

  2. NM_001418367.1 → NP_001405296.1  T-box brain protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL845291

  3. NM_009322.4 → NP_033348.2  T-box brain protein 1 isoform 1

    See identical proteins and their annotated locations for NP_033348.2

    Status: VALIDATED

    Source sequence(s)
    AL845291
    Consensus CDS
    CCDS16063.1
    UniProtKB/Swiss-Prot
    Q64336, Q7TSY9
    Related
    ENSMUSP00000046787.9, ENSMUST00000048934.15
    Conserved Domains (2) summary
    pfam16176
    Location:418 → 679
    T-box_assoc; T-box transcription factor-associated
    cd20204
    Location:203 → 393
    T-box_TBR1; DNA-binding domain of T-box brain protein 1 and related T-box proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    61633228..61644458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006499098.5 → XP_006499161.1  T-box brain protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006499161.1

    UniProtKB/Swiss-Prot
    Q64336, Q7TSY9
    Conserved Domains (2) summary
    pfam16176
    Location:418 → 679
    T-box_assoc; T-box transcription factor-associated
    cd20204
    Location:203 → 393
    T-box_TBR1; DNA-binding domain of T-box brain protein 1 and related T-box proteins
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q64336.2 GenPept UniProtKB/Swiss-Prot:Q64336

Gene LinkOut

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