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

Gene ID: 21380, updated on 8-May-2016
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; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Orthologs
Location:
16 A3; 16 11.51 cM
Exon count:
10
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 16 NC_000082.6 (18581704..18590671, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (18581806..18587062, complement)

Chromosome 16 - NC_000082.6Genomic 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 RIKEN cDNA 4930588K23 gene Neighboring gene predicted gene, 35369 Neighboring gene glycoprotein Ib, beta polypeptide Neighboring gene septin 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding ISO
Inferred from Sequence Orthology
more info
 
RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
transcription factor activity, sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
anterior/posterior pattern specification IGI
Inferred from Genetic Interaction
more info
PubMed 
anterior/posterior pattern specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
aorta morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
aorta morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
artery morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood vessel development IGI
Inferred from Genetic Interaction
more info
PubMed 
blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood vessel remodeling IGI
Inferred from Genetic Interaction
more info
PubMed 
cell fate specification IGI
Inferred from Genetic Interaction
more info
PubMed 
cell fate specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to fibroblast growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cochlea morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
cochlea morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
coronary artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
coronary artery morphogenesis TAS
Traceable Author Statement
more info
PubMed 
determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic cranial skeleton morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic viscerocranium morphogenesis ISO
Inferred from Sequence Orthology
more info
 
embryonic viscerocranium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enamel mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IGI
Inferred from Genetic Interaction
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development ISO
Inferred from Sequence Orthology
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
lymph vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesenchymal cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesoderm development IMP
Inferred from Mutant Phenotype
more info
PubMed 
middle ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
muscle cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle organ development IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle organ morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mesenchymal cell apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural crest cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
odontogenesis of dentin-containing tooth IMP
Inferred from Mutant Phenotype
more info
PubMed 
otic vesicle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
outer ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
outflow tract morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
outflow tract septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
parathyroid gland development ISO
Inferred from Sequence Orthology
more info
 
parathyroid gland development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
pattern specification process IGI
Inferred from Genetic Interaction
more info
PubMed 
pattern specification process IMP
Inferred from Mutant Phenotype
more info
PubMed 
patterning of blood vessels TAS
Traceable Author Statement
more info
PubMed 
pharyngeal system development IGI
Inferred from Genetic Interaction
more info
PubMed 
pharyngeal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
pharyngeal system development ISO
Inferred from Sequence Orthology
more info
 
pharyngeal system development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mesenchymal cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of secondary heart field cardioblast proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of tongue muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
regulation of organ morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
retinoic acid receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
semicircular canal morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
soft palate development ISO
Inferred from Sequence Orthology
more info
 
soft palate development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
thymus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
thymus development ISO
Inferred from Sequence Orthology
more info
 
thymus development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
thyroid gland development IGI
Inferred from Genetic Interaction
more info
PubMed 
thyroid gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
tongue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
vagus nerve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
T-box transcription factor TBX1
Names
T-box protein 1
testis-specific T-box protein

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
    Conserved Domains (1) summary
    cd00182
    Location:99288
    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 ...
  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_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 the longest isoform (1).
    Source sequence(s)
    AC133488, AF326960
    Consensus CDS
    CCDS28023.1
    UniProtKB/Swiss-Prot
    P70323
    UniProtKB/TrEMBL
    B9EII4
    Related
    ENSMUSP00000009241, ENSMUST00000009241
    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 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000082.6 Reference GRCm38.p3 C57BL/6J

    Range
    18581704..18590671 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006521979.1XP_006522042.1  

    See identical proteins and their annotated locations for XP_006522042.1

    Conserved Domains (1) summary
    cd00182
    Location:99288
    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 ...
  2. XM_006521978.1XP_006522041.1  

    See identical proteins and their annotated locations for XP_006522041.1

    Conserved Domains (1) summary
    cd00182
    Location:99288
    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 ...

Reference GRCm38.p3 129S6/SvEvTac

Genomic

  1. NT_187013.1 Reference GRCm38.p3 129S6/SvEvTac

    Range
    38899..47866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006536889.1XP_006536952.1  

    See identical proteins and their annotated locations for XP_006536952.1

    Conserved Domains (1) summary
    cd00182
    Location:99288
    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 ...
  2. XM_006536888.1XP_006536951.1  

    See identical proteins and their annotated locations for XP_006536951.1

    Conserved Domains (1) summary
    cd00182
    Location:99288
    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 ...

Reference GRCm38.p3 129X1/SvJ

Genomic

  1. NT_039630.5 Reference GRCm38.p3 129X1/SvJ

    Range
    152089..161058 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006523153.1XP_006523216.1  

    See identical proteins and their annotated locations for XP_006523216.1

    Conserved Domains (1) summary
    cd00182
    Location:99288
    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 ...
  2. XM_006523152.1XP_006523215.1  

    See identical proteins and their annotated locations for XP_006523215.1

    Conserved Domains (1) summary
    cd00182
    Location:99288
    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 ...

Alternate Mm_Celera

Genomic

  1. AC_000038.1 Alternate Mm_Celera

    Range
    19155974..19164943 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)