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Tbx1 T-box transcription factor 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 360737, updated on 9-Dec-2024

Summary

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Official Symbol: Tbx1provided by RGD
Official Full Name: T-box transcription factor 1provided by RGD
Primary source: RGD:1307734
See related: EnsemblRapid:ENSRNOG00000001892 AllianceGenome:RGD:1307734
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: T-box 1
Summary: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of receptor signaling pathway via JAK-STAT; positive regulation of cardiac muscle cell proliferation; and positive regulation of cell cycle G1/S phase transition. Predicted to be located in chromatin. Predicted to be active in nucleus. Biomarker of acute kidney failure and acute myocardial infarction. Human ortholog(s) of this gene implicated in several diseases, including DiGeorge syndrome; congenital heart disease (multiple); hypoparathyroidism; sensorineural hearing loss; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Muscle (RPKM 18.2), Lung (RPKM 11.7) and 4 other tissues See more
Orthologs: human mouse all
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Genomic context

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See Tbx1 in Genome Data Viewer

Location:: 11q23

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	11	NC_086029.1 (95913610..95923392)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	11	NC_051346.1 (82409275..82419058)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	11	NC_005110.4 (86552022..86561647)

Chromosome 11 - NC_086029.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.
Title: Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.
MiR-144 acts as a proliferation inhibitor in cardiomyocytes via the TBX1/JAK2/STAT1 axis
Title: MicroRNA-144 Regulates Cardiomyocyte Proliferation and Apoptosis by Targeting TBX1 through the JAK2/STAT1 Pathway.
results show the reactivated expression of TBX1 and indicate its involvement in cardiac fibrosis and remodeling after acute myocardial infarction and its participation in the benefit from mineralocorticoid receptor blockade.
Title: The TBX1 Transcription Factor in Cardiac Remodeling After Myocardial Infarction.
Increased Tbx1 expression may play a role via TGFbeta-Smad2/3 signaling pathway in acute kidney injury induced by gentamicin in the rat model.
Title: Increased Tbx1 expression may play a role via TGFβ-Smad2/3 signaling pathway in acute kidney injury induced by gentamicin.

Submit: New GeneRIF Correction

General gene information

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Markers

Tbx1 (e-PCR), detects polymorphism
- UniSTS:516154

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
NOT enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ameloblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within anterior/posterior pattern specification	ISO Inferred from Sequence Orthology more info
involved_in anterior/posterior pattern specification	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within aorta morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within artery morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within blood vessel development	ISO Inferred from Sequence Orthology more info
involved_in blood vessel development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within blood vessel morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within blood vessel remodeling	ISO Inferred from Sequence Orthology more info
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to fibroblast growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to fibroblast growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to retinoic acid	ISO Inferred from Sequence Orthology more info
involved_in cellular response to retinoic acid	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cochlea morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cochlea morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cochlea morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within coronary artery morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in coronary artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cranial skeletal system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
involved_in determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within ear morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in embryonic cranial skeleton morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic viscerocranium morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in embryonic viscerocranium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within enamel mineralization	ISO Inferred from Sequence Orthology more info
involved_in enamel mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within face morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in face morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hard palate development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
involved_in heart development	ISO Inferred from Sequence Orthology more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heart morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within inner ear morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in inner ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within lymph vessel development	ISO Inferred from Sequence Orthology more info
involved_in lymph vessel development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchymal cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in mesenchymal cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within mesenchymal cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mesoderm development	ISO Inferred from Sequence Orthology more info
involved_in mesoderm development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within middle ear morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in middle ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within muscle cell fate commitment	ISO Inferred from Sequence Orthology more info
involved_in muscle cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within muscle organ development	ISO Inferred from Sequence Orthology more info
involved_in muscle organ development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within muscle organ morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in muscle organ morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of mesenchymal cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of mesenchymal cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of muscle cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of receptor signaling pathway via JAK-STAT	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural crest cell migration	ISO Inferred from Sequence Orthology more info
involved_in neural crest cell migration	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neuron fate specification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	ISO Inferred from Sequence Orthology more info
involved_in odontogenesis of dentin-containing tooth	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within otic vesicle morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within outer ear morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in outer ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within outflow tract morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in outflow tract septum morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in outflow tract septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in parathyroid gland development	ISO Inferred from Sequence Orthology more info
involved_in parathyroid gland development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pattern specification process	ISO Inferred from Sequence Orthology more info
involved_in pattern specification process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pharyngeal system development	ISO Inferred from Sequence Orthology more info
involved_in pharyngeal system development	ISO Inferred from Sequence Orthology more info
involved_in pharyngeal system development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cardiac muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell cycle G1/S phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mesenchymal cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tongue muscle cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tongue muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of animal organ morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of animal organ morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinoic acid receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in retinoic acid receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within semicircular canal morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in semicircular canal morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within social behavior	ISO Inferred from Sequence Orthology more info
involved_in social behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in soft palate development	ISO Inferred from Sequence Orthology more info
involved_in soft palate development	ISS Inferred from Sequence or Structural Similarity more info
involved_in somatic stem cell population maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within thymus development	ISO Inferred from Sequence Orthology more info
involved_in thymus development	ISO Inferred from Sequence Orthology more info
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within thyroid gland development	ISO Inferred from Sequence Orthology more info
involved_in thyroid gland development	ISS Inferred from Sequence or Structural Similarity more info
involved_in tongue morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in tongue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within vagus nerve morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in vagus nerve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: T-box transcription factor TBX1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001108322.2 → NP_001101792.1 T-box transcription factor TBX1 isoform 3

See identical proteins and their annotated locations for NP_001101792.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000011

UniProtKB/TrEMBL

A6JSG0, D4A2E9

Related

ENSRNOP00000002597.4, ENSRNOT00000002597.7

Conserved Domains (1) summary

cd20187
Location:100 → 287

T-box_TBX1_10-like; DNA-binding domain of T-box transcription factor 1 and 10, and related T-box proteifactors
NM_001415704.1 → NP_001402633.1 T-box transcription factor TBX1 isoform 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000011

Related

ENSRNOP00000102869.1, ENSRNOT00000168762.1
NM_001415705.1 → NP_001402634.1 T-box transcription factor TBX1 isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000011

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086029.1 Reference GRCr8

Range

95913610..95923392

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063270648.1 → XP_063126718.1 T-box transcription factor TBX1 isoform X1

UniProtKB/TrEMBL

A6JSG0, D4A2E9
XM_039088501.2 → XP_038944429.1 T-box transcription factor TBX1 isoform X2

Conserved Domains (1) summary

cd20187
Location:16 → 177

T-box_TBX1_10-like; DNA-binding domain of T-box transcription factor 1 and 10, and related T-box proteifactors