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TBX1 T-box 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005992 Homo sapiens T-box 1 (TBX1), transcript variant B, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_080647 Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005261269 PREDICTED: Homo sapiens T-box 1 (TBX1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006724312 PREDICTED: Homo sapiens T-box 1 (TBX1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol TBX1
Entrez Gene ID 6899
Full Name T-box 1
Synonyms CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
General protein information
Preferred Names
T-box transcription factor TBX1
Names
T-box transcription factor TBX1
brachyury
Testis-specific T-box protein
T-box 1 transcription factor C
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q11.21

Summary This gene is a member of a phylogenetically 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. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 602054

Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome,

mRNA Protein Product Sequence Price Select
NM_005992, 5174710 NP_005983, 5174711 T-box transcription factor TBX1 isoform B ORF Sequence $400.00
NM_080646, 18104949 NP_542377, 18104950 T-box transcription factor TBX1 isoform A ORF Sequence $400.00
NM_080647, 18104951 NP_542378, 18104952 T-box transcription factor TBX1 isoform C ORF Sequence $550.00
XM_005261269, 530426269 XP_005261326, 530426270 T-box transcription factor TBX1 isoform X1 ORF Sequence $550.00
XM_006724312, 578837372 XP_006724375, 578837373 T-box transcription factor TBX1 isoform X2 ORF Sequence $550.00
WikiPathways
WP1591Heart Development
Homo sapiens (human)TBX1NP_542378.1
Pan troglodytes (chimpanzee)TBX1XP_514982.3
Macaca mulatta (Rhesus monkey)LOC100429202XP_002798308.1
Canis lupus familiaris (dog)TBX1XP_850266.3
Mus musculus (house mouse)Tbx1NP_035662.1
Rattus norvegicus (Norway rat)Tbx1NP_001101792.1
Danio rerio (zebrafish)tbx1NP_899182.1
Caenorhabditis elegansmls-1NP_498640.1
Xenopus (Silurana) tropicalis (western clawed frog)tbx1NP_001030290.1
Process
IDNameEvidence
GO:0001525angiogenesisISS
GO:0001568blood vessel developmentISS
GO:0001708cell fate specificationISS
GO:0001755neural crest cell migrationISS
GO:0001934positive regulation of protein phosphorylationISS
GO:0001945lymph vessel developmentISS
GO:0001974blood vessel remodelingIEA
GO:0002053positive regulation of mesenchymal cell proliferationISS
GO:0003007heart morphogenesisISS
GO:0003148outflow tract septum morphogenesisISS
GO:0003151outflow tract morphogenesisISS
GO:0006351transcription, DNA-templatedIEA
GO:0006357regulation of transcription from RNA polymerase II promoterISS
GO:0006357regulation of transcription from RNA polymerase II promoterNAS
GO:0007368determination of left/right symmetryISS
GO:0007389pattern specification processISS
GO:0007498mesoderm developmentISS
GO:0007507heart developmentIMP
GO:0007517muscle organ developmentISS
GO:0007605sensory perception of soundISS
GO:0008283cell proliferationISS
GO:0008284positive regulation of cell proliferationISS
GO:0009952anterior/posterior pattern specificationISS
GO:0021644vagus nerve morphogenesisISS
GO:0030855epithelial cell differentiationISS
GO:0030878thyroid gland developmentISS
GO:0035176social behaviorISS
GO:0035909aorta morphogenesisISS
GO:0042471ear morphogenesisISS
GO:0042472inner ear morphogenesisISS
GO:0042473outer ear morphogenesisISS
GO:0042474middle ear morphogenesisISS
GO:0042475odontogenesis of dentin-containing toothISS
GO:0042693muscle cell fate commitmentISS
GO:0043410positive regulation of MAPK cascadeISS
GO:0043587tongue morphogenesisISS
GO:0044344cellular response to fibroblast growth factor stimulusISS
GO:0045596negative regulation of cell differentiationISS
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedISS
GO:0045944positive regulation of transcription from RNA polymerase II promoterISS
GO:0048384retinoic acid receptor signaling pathwayISS
GO:0048514blood vessel morphogenesisISS
GO:0048538thymus developmentIMP
GO:0048644muscle organ morphogenesisISS
GO:0048701embryonic cranial skeleton morphogenesisISS
GO:0048703embryonic viscerocranium morphogenesisIMP
GO:0048752semicircular canal morphogenesisISS
GO:0048844artery morphogenesisISS
GO:0050679positive regulation of epithelial cell proliferationISS
GO:0060017parathyroid gland developmentIMP
GO:0060023soft palate developmentIMP
GO:0060037pharyngeal system developmentIMP
GO:0060325face morphogenesisISS
GO:0060415muscle tissue morphogenesisISS
GO:0060982coronary artery morphogenesisISS
GO:0070166enamel mineralizationISS
GO:0071300cellular response to retinoic acidISS
GO:0071600otic vesicle morphogenesisIEA
GO:0072513positive regulation of secondary heart field cardioblast proliferationIEA
GO:0090103cochlea morphogenesisISS
GO:0097152mesenchymal cell apoptotic processISS
GO:2000027regulation of organ morphogenesisISS
GO:2001037positive regulation of tongue muscle cell differentiationISS
GO:2001054negative regulation of mesenchymal cell apoptotic processISS
Component
IDNameEvidence
GO:0005634nucleusIDA
Function
IDNameEvidence
GO:0003677DNA bindingIDA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0042803protein homodimerization activityIDA
GO:0043565sequence-specific DNA bindingIDA
GO:0046983protein dimerization activityTAS
GeneCards TBX1
UniProt O43435, Q152R5, D9ZGG0
Vega OTTHUMG00000150421
MIM 602054
Ensembl ENSG00000184058
HGNC 11592
HPRD 09069

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TBX1 gene?

The TBX1 gene provides instructions for making a protein called T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins produced from these genes bind to specific areas of DNA. The proteins attach to critical regions near genes and help control the activity of those genes. T-box proteins are called transcription factors on the basis of this action.

The T-box 1 protein appears to be necessary for the normal development of muscles and bones of the face and neck, large arteries that carry blood out of the heart, structures in the ear, and glands such as the thymus and parathyroid. Although the T-box 1 protein acts as a transcription factor, researchers have not determined which genes are regulated by this protein.

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