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

Gene ID: 21380, updated on 19-Sep-2021

Summary

Official Symbol
Tbx1provided by MGI
Official Full Name
T-box 1provided by MGI
Primary source
MGI:MGI:98493
See related
Ensembl:ENSMUSG00000009097
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
nmf21; nmf219
Expression
Biased expression in lung adult (RPKM 10.1), ovary adult (RPKM 3.6) and 11 other tissues See more
Orthologs
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Genomic context

See Tbx1 in Genome Data Viewer
Location:
16 A3; 16
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (18399729..18409421, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (18580979..18590671, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (18581806..18587062, complement)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene catechol-O-methyltransferase Neighboring gene thioredoxin reductase 2 Neighboring gene guanine nucleotide binding protein (G protein), beta polypeptide 1-like Neighboring gene VISTA enhancer mm321 Neighboring gene Tbx1 upstream enhancer region Neighboring gene RIKEN cDNA 4930588K23 gene Neighboring gene predicted gene, 35369

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
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
PubMed 
acts_upstream_of_or_within cell fate specification IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cell fate specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to fibroblast growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within 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 
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_or_within epithelial cell differentiation 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 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 multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
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 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 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 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 
involved_in positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
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
PubMed 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
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 
acts_upstream_of_or_within 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 nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
T-box transcription factor TBX1
Names
T-box protein 1
testis-specific T-box protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001285472.1NP_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
    Related
    ENSMUSP00000009241.7, ENSMUST00000009241.7
    Conserved Domains (1) summary
    pfam00907
    Location:101286
    T-box
  2. NM_001285476.1NP_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, BC145636
    Conserved Domains (1) summary
    cd00182
    Location:1161
    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 ...
  3. NM_001373938.1NP_001360867.1  T-box transcription factor TBX1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC133488
    Conserved Domains (1) summary
    pfam00907
    Location:151336
    T-box
  4. NM_011532.2NP_035662.1  T-box transcription factor TBX1 isoform 1

    See identical proteins and their annotated locations for NP_035662.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC133488, AF326960
    Consensus CDS
    CCDS28023.1
    UniProtKB/Swiss-Prot
    P70323
    UniProtKB/TrEMBL
    B9EII4
    Related
    ENSMUSP00000156061.2, ENSMUST00000232335.2
    Conserved Domains (1) summary
    cd00182
    Location:108297
    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 ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    18399729..18409421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006521979.3XP_006522042.1  T-box transcription factor TBX1 isoform X1

    See identical proteins and their annotated locations for XP_006522042.1

    Conserved Domains (1) summary
    pfam00907
    Location:101286
    T-box
  2. XM_006521978.2XP_006522041.1  T-box transcription factor TBX1 isoform X1

    See identical proteins and their annotated locations for XP_006522041.1

    Conserved Domains (1) summary
    pfam00907
    Location:101286
    T-box
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