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TBR1 T-box brain transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 10716, updated on 1-Jun-2020

Summary

Official Symbol
TBR1provided by HGNC
Official Full Name
T-box brain transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:11590
See related
Ensembl:ENSG00000136535 MIM:604616
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IDDAS; TBR-1; TES-56
Summary
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]
Expression
Restricted expression toward brain (RPKM 13.1) See more
Orthologs

Genomic context

See TBR1 in Genome Data Viewer
Location:
2q24.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (161416297..161425870)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (162272620..162282381)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit, non-ATPase 14 Neighboring gene VISTA enhancer hs2337 Neighboring gene RNA, 5S ribosomal pseudogene 108 Neighboring gene uncharacterized LOC105373720 Neighboring gene AT-hook containing transcription factor 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Autism 5
MedGen: C1853755 OMIM: 606053 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-01-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-01-24)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC141978

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II activating transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amygdala development IEA
Inferred from Electronic Annotation
more info
 
brain development TAS
Traceable Author Statement
more info
PubMed 
cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
commitment of neuronal cell to specific neuron type in forebrain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
conditioned taste aversion IEA
Inferred from Electronic Annotation
more info
 
heart looping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hindbrain development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of axon guidance IEA
Inferred from Electronic Annotation
more info
 
regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
specification of animal organ identity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
T-box brain protein 1
Names
T-box, brain 1
T-brain-1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_046904.1 RefSeqGene

    Range
    5189..14762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006593.4NP_006584.1  T-box brain protein 1

    See identical proteins and their annotated locations for NP_006584.1

    Status: REVIEWED

    Source sequence(s)
    AC009487, BC113418, BX114402, DA511772, DA771310, DB550595, H41824, U49250
    Consensus CDS
    CCDS33310.1
    UniProtKB/Swiss-Prot
    Q16650
    Related
    ENSP00000374205.3, ENST00000389554.8
    Conserved Domains (2) summary
    pfam00907
    Location:206393
    T-box; T-box
    pfam16176
    Location:418680
    T-box_assoc; T-box transcription factor-associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    161416297..161425870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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