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Tbx1 T-box 1 [ Mus musculus (house mouse) ]

Gene ID: 21380, updated on 2-Nov-2024

Summary

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Official Symbol: Tbx1provided by MGI
Official Full Name: T-box 1provided by MGI
Primary source: MGI:MGI:98493
See related: Ensembl:ENSMUSG00000009097 AllianceGenome:MGI:98493
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: nmf219
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including outflow tract septum morphogenesis; positive regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; embryonic organ morphogenesis; and regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including alimentary system; branchial arch; ear; embryo mesenchyme; and heart. Used to study DiGeorge syndrome; autism spectrum disorder; chromosome 22q11.2 deletion syndrome, distal; otitis media; and velocardiofacial syndrome. 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, Nov 2024]
Expression: Biased expression in lung adult (RPKM 10.1), ovary adult (RPKM 3.6) and 11 other tissues See more
Orthologs: human all
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Genomic context

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See Tbx1 in Genome Data Viewer

Location:: 16 A3; 16

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (18399729..18409412, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (18580979..18590671, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Conserved enhancers control notochord expression of vertebrate Brachyury.
Title: Conserved enhancers control notochord expression of vertebrate Brachyury.
Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development.
Title: Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development.
TBX1 regulates myogenic differentiation by activating the TGFbeta-Smad2/3 pathway in myoblasts.
Title: TBX1 regulates myogenic differentiation by activating the TGFβ-Smad2/3 pathway in myoblasts.
Tbx1, a gene encoded in 22q11.2 copy number variant, is a link between alterations in fimbria myelination and cognitive speed in mice.
Title: Tbx1, a gene encoded in 22q11.2 copy number variant, is a link between alterations in fimbria myelination and cognitive speed in mice.
Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm.
Title: Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm.
Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.
Title: Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.
Aberrant early growth of individual trigeminal sensory and motor axons in a series of mouse genetic models of 22q11.2 deletion syndrome.
Title: Aberrant early growth of individual trigeminal sensory and motor axons in a series of mouse genetic models of 22q11.2 deletion syndrome.
Adipose TBX1 regulates beta-adrenergic sensitivity in subcutaneous adipose tissue and thermogenic capacity in vivo.
Title: Adipose TBX1 regulates β-adrenergic sensitivity in subcutaneous adipose tissue and thermogenic capacity in vivo.
A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3.
Title: A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3.
Decrease in the T-box1 gene expression in embryonic brain and adult hippocampus of down syndrome mouse models.
Title: Decrease in the T-box1 gene expression in embryonic brain and adult hippocampus of down syndrome mouse models.

Submit: New GeneRIF Correction See all GeneRIFs (122)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (4)
Spontaneous (2) 1 citation
Targeted (18) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tbx1 (e-PCR), detects polymorphism
- UniSTS:265753

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

Tbx1 (e-PCR), detects polymorphism
- UniSTS:516155

NoName (e-PCR)
- UniSTS:548189

NoName (e-PCR)
- UniSTS:548190

Tbx1 (e-PCR), detects polymorphism
- UniSTS:144549

Tbx1 (e-PCR), detects polymorphism
- UniSTS:496819

Tbx1 (e-PCR), detects polymorphism
- UniSTS:525749

Tbx1 (e-PCR), detects polymorphism
- UniSTS:525750

Tbx1 (e-PCR), detects polymorphism
- UniSTS:496836

Tbx1 (e-PCR), detects polymorphism
- UniSTS:276941

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
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 cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aorta morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within artery morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel remodeling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in branching involved in blood vessel morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to fibroblast growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to retinoic acid	IEP Inferred from Expression Pattern more info	PubMed
involved_in cochlea morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in coronary artery morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cranial skeletal system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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	PubMed
acts_upstream_of_or_within enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hard palate development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	ISO Inferred from Sequence Orthology more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymph vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesenchymal cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchymal cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mesenchymal cell apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of muscle cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otic vesicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outer ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outflow tract morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in parathyroid gland development	IMP Inferred from Mutant Phenotype more info	PubMed
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	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
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	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cardiac muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell cycle G1/S phase transition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tongue muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of animal organ morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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	IGI Inferred from Genetic Interaction more info	PubMed
involved_in retinoic acid receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within semicircular canal morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
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	PubMed
involved_in somatic stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thymus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thymus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thymus development	ISO Inferred from Sequence Orthology more info
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within thyroid gland development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within thyroid gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tongue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vagus nerve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: T-box transcription factor TBX1

Names: T-box protein 1; testis-specific T-box protein

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_001285472.2 → NP_001272401.1 T-box transcription factor TBX1 isoform 2

See identical proteins and their annotated locations for NP_001272401.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC133488

Consensus CDS

CCDS88897.1

UniProtKB/Swiss-Prot

P70323, Q60706, Q99MP0, Q99P22

UniProtKB/TrEMBL

F6ZP09

Related

ENSMUSP00000009241.7, ENSMUST00000009241.7

Conserved Domains (1) summary

pfam00907
Location:101 → 286

T-box
NM_001285476.2 → NP_001272405.1 T-box transcription factor TBX1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses and alternate splice site in the 5' UTR which results in the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC133488

Conserved Domains (1) summary

cd00182
Location:1 → 161

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
NM_001373938.1 → NP_001360867.1 T-box transcription factor TBX1 isoform 4

Status: VALIDATED

Source sequence(s)

AC133488

UniProtKB/Swiss-Prot

P70323, Q60706, Q99MP0, Q99P22

Conserved Domains (1) summary

pfam00907
Location:151 → 336

T-box
NM_011532.3 → NP_035662.1 T-box transcription factor TBX1 isoform 1

See identical proteins and their annotated locations for NP_035662.1

Status: VALIDATED

Source sequence(s)

AC133488

Consensus CDS

CCDS28023.1

UniProtKB/Swiss-Prot

P70323, Q60706, Q99MP0, Q99P22

UniProtKB/TrEMBL

B9EII4

Related

ENSMUSP00000156061.2, ENSMUST00000232335.2

Conserved Domains (1) summary

cd00182
Location:108 → 297

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...