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Protein

T-box transcription factor TBX1

Gene

Tbx1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi108 – 286T-boxPROSITE-ProRule annotationAdd BLAST179

GO - Molecular functioni

  • DNA binding Source: MGI
  • protein homodimerization activity Source: UniProtKB
  • RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: UniProtKB
  • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB

GO - Biological processi

  • angiogenesis Source: MGI
  • anterior/posterior pattern specification Source: MGI
  • aorta morphogenesis Source: MGI
  • artery morphogenesis Source: MGI
  • blood vessel development Source: MGI
  • blood vessel morphogenesis Source: MGI
  • blood vessel remodeling Source: MGI
  • branching involved in blood vessel morphogenesis Source: DFLAT
  • cell fate specification Source: MGI
  • cell proliferation Source: MGI
  • cellular response to fibroblast growth factor stimulus Source: UniProtKB
  • cellular response to retinoic acid Source: UniProtKB
  • cochlea morphogenesis Source: MGI
  • coronary artery morphogenesis Source: MGI
  • determination of left/right symmetry Source: MGI
  • ear morphogenesis Source: MGI
  • embryonic cranial skeleton morphogenesis Source: MGI
  • embryonic viscerocranium morphogenesis Source: UniProtKB
  • enamel mineralization Source: MGI
  • epithelial cell differentiation Source: MGI
  • face morphogenesis Source: MGI
  • heart development Source: UniProtKB
  • heart morphogenesis Source: MGI
  • inner ear morphogenesis Source: MGI
  • lymph vessel development Source: MGI
  • mesenchymal cell apoptotic process Source: UniProtKB
  • mesoderm development Source: MGI
  • middle ear morphogenesis Source: MGI
  • muscle cell fate commitment Source: MGI
  • muscle organ development Source: MGI
  • muscle organ morphogenesis Source: MGI
  • muscle tissue morphogenesis Source: MGI
  • negative regulation of cell differentiation Source: MGI
  • negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
  • negative regulation of transcription by RNA polymerase II Source: BHF-UCL
  • neural crest cell migration Source: MGI
  • odontogenesis of dentin-containing tooth Source: MGI
  • otic vesicle morphogenesis Source: MGI
  • outer ear morphogenesis Source: MGI
  • outflow tract morphogenesis Source: MGI
  • outflow tract septum morphogenesis Source: UniProtKB
  • parathyroid gland development Source: UniProtKB
  • pattern specification process Source: MGI
  • pharyngeal system development Source: UniProtKB
  • positive regulation of cell proliferation Source: MGI
  • positive regulation of epithelial cell proliferation Source: UniProtKB
  • positive regulation of MAPK cascade Source: UniProtKB
  • positive regulation of mesenchymal cell proliferation Source: UniProtKB
  • positive regulation of protein phosphorylation Source: UniProtKB
  • positive regulation of secondary heart field cardioblast proliferation Source: MGI
  • positive regulation of tongue muscle cell differentiation Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: MGI
  • positive regulation of transcription by RNA polymerase II Source: UniProtKB
  • regulation of organ morphogenesis Source: MGI
  • regulation of transcription by RNA polymerase II Source: MGI
  • retinoic acid receptor signaling pathway Source: UniProtKB
  • semicircular canal morphogenesis Source: MGI
  • sensory perception of sound Source: MGI
  • social behavior Source: MGI
  • soft palate development Source: UniProtKB
  • thymus development Source: MGI
  • thyroid gland development Source: MGI
  • tongue morphogenesis Source: UniProtKB
  • vagus nerve morphogenesis Source: MGI

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX1
Short name:
T-box protein 1
Alternative name(s):
Testis-specific T-box protein
Gene namesi
Name:Tbx1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:98493 Tbx1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844241 – 479T-box transcription factor TBX1Add BLAST479

Proteomic databases

PaxDbiP70323
PRIDEiP70323

PTM databases

iPTMnetiP70323
PhosphoSitePlusiP70323

Expressioni

Tissue specificityi

Expressed in skeletal muscle, lung and testis.1 Publication

Developmental stagei

In the developing embryo, first expressed in the mesoderm at day 7.5. Expressed in the pharyngeal endoderm and the mesodermal cores of the pharyngeal arches at 8.5 dpc. At day 9.5, primarily expressed in the head region, specifically the mesenchyme and epithelium of the pharyngeal region and the otic vesicle epithelium. By day 12.5, expression is still observed in the latter as well as in the tongue mesenchyme, tooth buds and branching lung epithelium.2 Publications

Gene expression databases

CleanExiMM_TBX1

Interactioni

Subunit structurei

Interacts with DSCR6.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi203984, 5 interactors
IntActiP70323, 3 interactors
STRINGi10090.ENSMUSP00000009241

Structurei

3D structure databases

ProteinModelPortaliP70323
SMRiP70323
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi24 – 65Pro-richAdd BLAST42
Compositional biasi429 – 446His-richAdd BLAST18
Compositional biasi448 – 473Ala-richAdd BLAST26

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
HOGENOMiHOG000286000
HOVERGENiHBG014448
InParanoidiP70323
KOiK10175
PhylomeDBiP70323

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P70323-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHFSTVTRDM EAFAASSLSG LGSPSPGADP FGPREPPPPR YDPCAAVPGA
60 70 80 90 100
PGPPPPRAYP FAPAPGAAGS SAAESEGPGA SRAAAVKAPV KKNPKVASVS
110 120 130 140 150
VQLEMKALWD EFNQLGTEMI VTKAGRRMFP TFQVKLFGMD PMADYMLLMD
160 170 180 190 200
FVPVDDKRYR YAFHSSSWLV AGKADPATPG RVHYHPDSPA KGAQWMKQIV
210 220 230 240 250
SFDKLKLTNN LLDDNGQIIL NSMHRYQPRF HVVYVDPRKD SEKYAEENFK
260 270 280 290 300
TFVFEETRFT AVTAYQNHRI TQLKIASNPF AKGFRDCDPE DWPRNHRPGA
310 320 330 340 350
LPLVSAFARS RNPVASPTQP NGSDKDAAEA RREFDRDSGP AALGDATHPP
360 370 380 390 400
QLLARVLSPA LPGPGGLVPL PGGSGGRHSP PHADLRLEAP GASEPLHHHP
410 420 430 440 450
YKYPAAAYDH YLGAKSRPAP YPLPGLRGHG YHPHAHPHAH PHHHHHPAVN
460 470
PAAAAAAAAA ANVYSSAAAP PGAYDYCPR
Length:479
Mass (Da):51,668
Last modified:December 20, 2005 - v2
Checksum:iF6FE34621B2E7164
GO
Isoform 2 (identifier: P70323-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MHFSTVTRDME → MISAVSSPWLTQLSHFCDVA

Show »
Length:488
Mass (Da):52,507
Checksum:i388E8A2BB826308C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti174A → R in AAC53106 (PubMed:8878690).Curated1
Sequence conflicti183 – 184HY → YI in AAC52696 (PubMed:7920656).Curated2
Sequence conflicti217Q → H in AAG61088 (PubMed:11242049).Curated1
Sequence conflicti217Q → H in AAC53106 (PubMed:8878690).Curated1
Sequence conflicti217Q → H in AAC52696 (PubMed:7920656).Curated1
Sequence conflicti236D → A in AAC53106 (PubMed:8878690).Curated1
Sequence conflicti236D → A in AAC52696 (PubMed:7920656).Curated1
Sequence conflicti245A → E in AAC53106 (PubMed:8878690).Curated1
Sequence conflicti245A → E in AAC52696 (PubMed:7920656).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0167601 – 11MHFSTVTRDME → MISAVSSPWLTQLSHFCDVA in isoform 2. CuratedAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF349658 mRNA Translation: AAK14407.1
AF326960 mRNA Translation: AAG61088.1
U57327 mRNA Translation: AAC53106.1
U15565 mRNA Translation: AAC52696.1
CCDSiCCDS28023.1 [P70323-2]
RefSeqiNP_035662.1, NM_011532.2
UniGeneiMm.295194

Genome annotation databases

GeneIDi21380
KEGGimmu:21380

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTBX1_MOUSE
AccessioniPrimary (citable) accession number: P70323
Secondary accession number(s): Q60706, Q99MP0, Q99P22
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 20, 2005
Last modified: March 28, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health