Entity Details

Primary name TBR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ16650
EntryNameTBR1_HUMAN
FullNameT-box brain protein 1
TaxID9606
Evidenceevidence at protein level
Length682
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesTBR1

GO terms

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GOName
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001661 conditioned taste aversion
GO:0001708 cell fate specification
GO:0001947 heart looping
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007420 brain development
GO:0010092 specification of animal organ identity
GO:0010975 regulation of neuron projection development
GO:0019901 protein kinase binding
GO:0021764 amygdala development
GO:0021902 commitment of neuronal cell to specific neuron type in forebrain
GO:0021987 cerebral cortex development
GO:0030902 hindbrain development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:1902667 regulation of axon guidance

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR032385 T-box transcription factor-associatedDomainDomain
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
606053 OMIMIntellectual 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. The disease is caused by variants affecting the gene represented in this entry.