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Aliases for TBR1 Gene

Aliases for TBR1 Gene

  • T-Box, Brain, 1 2 3
  • T-Brain-1 3 4
  • TES-56 3 4
  • TBR-1 3 4
  • T-Box Brain Protein 1 3

External Ids for TBR1 Gene

Summaries for TBR1 Gene

Entrez Gene Summary for TBR1 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 developmental processes. A similar protein has been disrupted in mice and shown to be critical for early cortical development, and causes loss of projection neurons in the olfactory bulbs and olfactory cortex. The C-terminal region this similar 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, Jul 2008]

GeneCards Summary for TBR1 Gene

TBR1 (T-Box, Brain, 1) is a Protein Coding gene. Diseases associated with TBR1 include sleeping sickness. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is MGA.

UniProtKB/Swiss-Prot for TBR1 Gene

  • Probable transcriptional regulator involved in developmental processes. Required for normal brain development

Gene Wiki entry for TBR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBR1 Gene

Genomics for TBR1 Gene

Genomic Location for TBR1 Gene

Start:
161,416,094 bp from pter
End:
161,425,870 bp from pter
Size:
9,777 bases
Orientation:
Plus strand

Genomic View for TBR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBR1 Gene

Regulatory Elements for TBR1 Gene

Proteins for TBR1 Gene

  • Protein details for TBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16650-TBR1_HUMAN
    Recommended name:
    T-box brain protein 1
    Protein Accession:
    Q16650
    Secondary Accessions:
    • B0AZS4
    • B2R6G5
    • Q14DC5
    • Q53TH0
    • Q56A81

    Protein attributes for TBR1 Gene

    Size:
    682 amino acids
    Molecular mass:
    74053 Da
    Quaternary structure:
    • Part of a complex containing CASK, TBR1 and TSPYL2; may modulate gene expression in response to neuronal synaptic activity.

    Alternative splice isoforms for TBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBR1 Gene

Proteomics data for TBR1 Gene at MOPED

Post-translational modifications for TBR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBR1 Gene

Domains for TBR1 Gene

Gene Families for TBR1 Gene

HGNC:

Protein Domains for TBR1 Gene

UniProtKB/Swiss-Prot:

TBR1_HUMAN
Domain:
  • Contains 1 T-box DNA-binding domain.:
    • Q16650
genes like me logo Genes that share domains with TBR1: view

Function for TBR1 Gene

Molecular function for TBR1 Gene

UniProtKB/Swiss-Prot Function: Probable transcriptional regulator involved in developmental processes. Required for normal brain development

Gene Ontology (GO) - Molecular Function for TBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with TBR1: view

Phenotypes for TBR1 Gene

genes like me logo Genes that share phenotypes with TBR1: view

Animal Models for TBR1 Gene

MGI Knock Outs for TBR1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for TBR1 Gene

Localization for TBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBR1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBR1 Gene COMPARTMENTS Subcellular localization image for TBR1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for TBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with TBR1: view

Pathways for TBR1 Gene

SuperPathways for TBR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0007411 axon guidance IEA --
GO:0007420 brain development TAS 7619531
GO:0010092 specification of organ identity IEA --
genes like me logo Genes that share ontologies with TBR1: view

No data available for Pathways by source for TBR1 Gene

Transcripts for TBR1 Gene

Unigene Clusters for TBR1 Gene

T-box, brain, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBR1 Gene

No ASD Table

Relevant External Links for TBR1 Gene

GeneLoc Exon Structure for
TBR1
ECgene alternative splicing isoforms for
TBR1

Expression for TBR1 Gene

mRNA expression in normal human tissues for TBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBR1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (17.7), Brain - Cortex (13.1), Brain - Anterior cingulate cortex (BA24) (11.3), and Brain - Amygdala (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TBR1 Gene

SOURCE GeneReport for Unigene cluster for TBR1 Gene Hs.210862

mRNA Expression by UniProt/SwissProt for TBR1 Gene

Q16650-TBR1_HUMAN
Tissue specificity: Brain
genes like me logo Genes that share expressions with TBR1: view

Orthologs for TBR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBR1 36
  • 99.8 (n)
  • 100 (a)
TBR1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBR1 36
  • 96.68 (n)
  • 99.56 (a)
TBR1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBR1 36
  • 96.43 (n)
  • 99.27 (a)
TBR1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbr1 36
  • 95.01 (n)
  • 99.41 (a)
Tbr1 16
Tbr1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBR1 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBR1 37
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbr1 36
  • 94.57 (n)
  • 99.27 (a)
chicken
(Gallus gallus)
Aves TBR1 36
  • 89.59 (n)
  • 94.89 (a)
TBR1 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBR1 37
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbr1 36
  • 80.38 (n)
  • 87.63 (a)
zebrafish
(Danio rerio)
Actinopterygii tbr1 36
tbr1b 36
  • 76.13 (n)
  • 81.13 (a)
tbr1b 37
  • 81 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbx-11 37
  • 23 (a)
ManyToMany
tbx-30 37
  • 18 (a)
ManyToMany
tbx-34 37
  • 22 (a)
ManyToMany
tbx-35 37
  • 20 (a)
ManyToMany
tbx-37 37
  • 26 (a)
ManyToMany
tbx-38 37
  • 24 (a)
ManyToMany
tbx-39 37
  • 16 (a)
ManyToMany
tbx-40 37
  • 17 (a)
ManyToMany
tbx-42 37
  • 18 (a)
ManyToMany
tbx-43 37
  • 27 (a)
ManyToMany
tbx-8 37
  • 27 (a)
ManyToMany
tbx-9 37
  • 31 (a)
ManyToMany
tbx-9 38
  • 42 (a)
tbx-8 38
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7001 37
  • 15 (a)
OneToMany
Species with no ortholog for TBR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBR1 Gene

ENSEMBL:
Gene Tree for TBR1 (if available)
TreeFam:
Gene Tree for TBR1 (if available)

Paralogs for TBR1 Gene

Paralogs for TBR1 Gene

Selected SIMAP similar genes for TBR1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TBR1: view

Variants for TBR1 Gene

Sequence variations from dbSNP and Humsavar for TBR1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs890076 -- 161,424,237(+) CCCCT(A/G)CCCGC utr-variant-3-prime
rs1065061 -- 161,424,465(+) GTTTT(C/G)CTACT utr-variant-3-prime
rs1065062 -- 161,424,720(+) tggta(G/T)ggatg utr-variant-3-prime
rs1559629 -- 161,414,217(+) CGCAC(C/T)CCAAC upstream-variant-2KB
rs2194730 -- 161,419,474(+) CTCTT(G/T)TTTTC intron-variant

Relevant External Links for TBR1 Gene

HapMap Linkage Disequilibrium report
TBR1
Human Gene Mutation Database (HGMD)
TBR1

No data available for Structural Variations from Database of Genomic Variants (DGV) for TBR1 Gene

Disorders for TBR1 Gene

(1) MalaCards Diseases for TBR1 Gene

Search for TBR1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for TBR1 Gene

Relevant External Links for TBR1

Genetic Association Database (GAD)
TBR1
Human Genome Epidemiology (HuGE) Navigator
TBR1
genes like me logo Genes that share disorders with TBR1: view

No data available for UniProtKB/Swiss-Prot for TBR1 Gene

Publications for TBR1 Gene

  1. T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex. (PMID: 7619531) Bulfone A. … Rubenstein J.L.R. (Neuron 1995) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  4. TbetaR-I(6A) polymorphism is not a tumor susceptibility allele in Macedonian colorectal cancer patients. Correspondence re: B. Pasche et al. Type I TbetaR-I(6A) Is a Candidate Tumor Susceptibility Allele. Cancer Res., 58: 2727-2732, 1998. (PMID: 11719470) Stefanovska A.M. … Spiroski M. (Cancer Res. 2001) 3 49
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for TBR1 Gene

  • Addgene plasmids for TBR1

Sources for TBR1 Gene

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