• Gene id: 10716

Gene Summary

• Gene Symbol: TBR1   Gene   UCSC   Ensembl
• Aliases: IDDAS, TBR-1, TES-56
• Gene name: T-box brain transcription factor 1
• Alternate names: T-box brain protein 1, T-box, brain 1, T-brain-1,
• Gene location: 2q24.2 (161416296: 161425869)     Exons: 6     NC_000002.12
• Gene summary(Entrez): 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 express
• OMIM: 604616

Protein Summary

• Protein general information: Q16650  
  • Name: T box brain protein 1 (T brain 1) (TBR 1) (TES 56)
  • Length: 682  
  • Mass: 74053
  • Tissue specificity: Brain.
• Sequence:

  MQLEHCLSPSIMLSKKFLNVSSSYPHSGGSELVLHDHPIISTTDNLERSSPLKKITRGMTNQSDTDNFPDSKDSP
  GDVQRSKLSPVLDGVSELRHSFDGSAADRYLLSQSSQPQSAATAPSAMFPYPGQHGPAHPAFSIGSPSRYMAHHP
  VITNGAYNSLLSNSSPQGYPTAGYPYPQQYGHSYQGAPFYQFSSTQPGLVPGKAQVYLCNRPLWLKFHRHQTEMI
  ITKQGRRMFPFLSFNISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGKADTNVQGNRVYMHPDSPNTGAHWM
  RQEISFGKLKLTNNKGASNNNGQMVVLQSLHKYQPRLHVVEVNEDGTEDTSQPGRVQTFTFPETQFIAVTAYQNT
  DITQLKIDHNPFAKGFRDNYDTIYTGCDMDRLTPSPNDSPRSQIVPGARYAMAGSFLQDQFVSNYAKARFHPGAG
  AGPGPGTDRSVPHTNGLLSPQQAEDPGAPSPQRWFVTPANNRLDFAASAYDTATDFAGNAATLLSYAAAGVKALP
  LQAAGCTGRPLGYYADPSGWGARSPPQYCGTKSGSVLPCWPNSAAAAARMAGANPYLGEEAEGLAAERSPLPPGA
  AEDAKPKDLSDSSWIETPSSIKSIDSSDSGIYEQAKRRRISPADTPVSESSSPLKSEVLAQRDCEKNCAKDISGY
  YGFYSHS

• Structural information:
  • Interpro: IPR008967  IPR032385  IPR036960  IPR001699  IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • STRING: ENSP00000374205
• Other Databases: GeneCards:  TBR1  Malacards:  TBR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0001947	heart looping	IBA	biological process
GO:0010975	regulation of neuron projection development	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0001708	cell fate specification	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007420	brain development	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902667	regulation of axon guidance	IEA	biological process
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0010092	specification of animal organ identity	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain	IEA	biological process
GO:0021764	amygdala development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001661	conditioned taste aversion	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Intellectual developmental disorder with autism and speech delay	KEGG:H02371
Intellectual developmental disorder with autism and speech delay	KEGG:H02371
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)