TBR1

Protein identityUniProt · HPA

UniProt accession

Q16650

Gene

TBR1

Ensembl

ENSG00000136535

Chromosome

2

Canonical length

682 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

682 residues, UniProt reviewed canonical sequence.

>Q16650|TBR1
     1  MQLEHCLSPS IMLSKKFLNV SSSYPHSGGS ELVLHDHPII STTDNLERSS PLKKITRGMT
    61  NQSDTDNFPD SKDSPGDVQR SKLSPVLDGV SELRHSFDGS AADRYLLSQS SQPQSAATAP
   121  SAMFPYPGQH GPAHPAFSIG SPSRYMAHHP VITNGAYNSL LSNSSPQGYP TAGYPYPQQY
   181  GHSYQGAPFY QFSSTQPGLV PGKAQVYLCN RPLWLKFHRH QTEMIITKQG RRMFPFLSFN
   241  ISGLDPTAHY NIFVDVILAD PNHWRFQGGK WVPCGKADTN VQGNRVYMHP DSPNTGAHWM
   301  RQEISFGKLK LTNNKGASNN NGQMVVLQSL HKYQPRLHVV EVNEDGTEDT SQPGRVQTFT
   361  FPETQFIAVT AYQNTDITQL KIDHNPFAKG FRDNYDTIYT GCDMDRLTPS PNDSPRSQIV
   421  PGARYAMAGS FLQDQFVSNY AKARFHPGAG AGPGPGTDRS VPHTNGLLSP QQAEDPGAPS
   481  PQRWFVTPAN NRLDFAASAY DTATDFAGNA ATLLSYAAAG VKALPLQAAG CTGRPLGYYA
   541  DPSGWGARSP PQYCGTKSGS VLPCWPNSAA AAARMAGANP YLGEEAEGLA AERSPLPPGA
   601  AEDAKPKDLS DSSWIETPSS IKSIDSSDSG IYEQAKRRRI SPADTPVSES SSPLKSEVLA
   661  QRDCEKNCAK DISGYYGFYS HS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

33 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBR1.

Disease | AllUniProt

Conditions TBR1 is implicated in, by any mechanism.

• Intellectual developmental disorder with autism and speech delay (IDDAS) MIM:606053

Disease | GeneticClinVar

76 pathogenic / likely-pathogenic of 336 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder with autism and speech delay
• Autistic behavior
• Moderate global developmental delay
• Severe global developmental delay
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.19

gnomAD pLI

1

gnomAD missense Z

3.64

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amygdala development
• brain development
• cell fate specification
• cerebral cortex development
• chromatin remodeling
• commitment of neuronal cell to specific neuron type in forebrain
• conditioned taste aversion
• gene expression
• hindbrain development
• negative regulation of DNA-templated transcription
• positive regulation of transcription by RNA polymerase II
• regulation of axon guidance
• regulation of neuron projection development
• regulation of transcription by RNA polymerase II
• specification of animal organ identity

Molecular functions

• chromatin DNA binding
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein kinase binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• T-box transcription factor
• p53-like transcription factor, DNA-binding domain superfamily
• Transcription factor, T-box, conserved site
• T-box transcription factor-associated
• T-box superfamily
• T-box transcription factor, DNA-binding domain
• T-box
• T-box transcription factor-associated

KeywordsUniProt

• Autism spectrum disorder
• DNA-binding
• Intellectual disability
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of TBR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BCL11A
• FOXP1
• FOXP2
• CASK