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Protein

T-box transcription factor TBX6

Gene

Tbx6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia.4 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi100 – 273174T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • DNA binding Source: MGI
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcriptional repressor activity, RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcription factor activity, sequence-specific DNA binding Source: InterPro

GO - Biological processi

  • cell fate specification Source: MGI
  • mesoderm formation Source: MGI
  • negative regulation of neuron maturation Source: MGI
  • negative regulation of neuron projection development Source: MGI
  • negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: MGI
  • signal transduction involved in regulation of gene expression Source: MGI
  • somite rostral/caudal axis specification Source: MGI
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX6
Short name:
T-box protein 6
Gene namesi
Name:Tbx6
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:102539. Tbx6.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

Defects in the differentiation of paraxial mesoderm. Irregular somites formed in the neck region of mutant embryos, whereas more posterior paraxial tissue did not form somites but instead differentiated along a neural pathway, forming neural-tube-like structures that flanked the axial neural tube. These paraxial tubes showed dorsal/ventral patterning that is characteristic of the neural tube and had differentiated motor neurons. Embryos lacking TBX6 show also randomization of the direction of heart looping and independent alterations in the direction of embryo turning.3 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 436436T-box transcription factor TBX6PRO_0000184439Add
BLAST

Proteomic databases

PaxDbiP70327.
PRIDEiP70327.

PTM databases

iPTMnetiP70327.
PhosphoSiteiP70327.

Expressioni

Developmental stagei

TBX6 is first detected in the gastrulation stage in the primitive streak and newly recruited paraxial mesoderm. Later in development it is restricted to presomitic, paraxial mesoderm and to the tail bud, which replaces the streak as the source of mesoderm.

Gene expression databases

BgeeiENSMUSG00000030699.
CleanExiMM_TBX6.
GenevisibleiP70327. MM.

Interactioni

GO - Molecular functioni

  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi203991. 3 interactions.
STRINGi10090.ENSMUSP00000091579.

Structurei

3D structure databases

ProteinModelPortaliP70327.
SMRiP70327. Positions 90-272.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286000.
HOVERGENiHBG017897.
InParanoidiP70327.
KOiK10180.
OMAiGMASFRF.
OrthoDBiEOG091G0I8R.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00938. BRACHYURY.
PR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: P70327-1) [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
MYHPRELYPS LGTGYRLGHP QPGADSTFPP ALTEGYRYPD LDTSKLDCFL
60 70 80 90 100
SGIEAAPHTL AAAAPLPLLP SALGPETAPP PPEALHSLPG VSLSLENQEL
110 120 130 140 150
WKEFSAVGTE MIITKAGRRM FPACRVSVTG LDPEARYLFL LDVVPVDGAR
160 170 180 190 200
YRWQGQHWEP SGKAEPRLPD RVYIHPDSPA TGAHWMRQPV SFHRVKLTNS
210 220 230 240 250
TLDPHGHLIL HSMHKYQPRI HLVRATQLCS QHWGGVASFR FPETTFISVT
260 270 280 290 300
AYQNPRITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPVATEA
310 320 330 340 350
CGSGDTPGGP CDSTLGGDIR DSDPEQAPTP QEAASASAPP CGGPSAEAYL
360 370 380 390 400
LHPAAFHGAP SHLPARTPSF AEAPDPGRPA PYSAAFLDLQ PGPGGSAYQA
410 420 430
APSVPSFAPH FIQGGPFPLP YPGPGGYLDM GSKPMY
Length:436
Mass (Da):47,006
Last modified:May 16, 2012 - v2
Checksum:iDBAAD94C88E9CC4B
GO
Isoform 2 (identifier: P70327-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     281-304: ERDARVKRKLRGPEPVATEACGSG → WASFIQGMLTNYCVPGTVPGYQEHD

Note: No experimental confirmation available.
Show »
Length:437
Mass (Da):47,237
Checksum:i3054494FB6409357
GO

Sequence cautioni

The sequence AAC53110 differs from that shown. Reason: Frameshift at positions 67, 72, 329 and 377. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti156 – 1572QH → PD in AAC53110 (PubMed:8878690).Curated
Sequence conflicti331 – 3311Q → R in AAC53110 (PubMed:8878690).Curated
Sequence conflicti331 – 3311Q → R in AAI40952 (PubMed:15489334).Curated
Sequence conflicti370 – 3701F → L in AAC53110 (PubMed:8878690).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei281 – 30424ERDAR…ACGSG → WASFIQGMLTNYCVPGTVPG YQEHD in isoform 2. 1 PublicationVSP_043221Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57331 mRNA. Translation: AAC53110.1. Frameshift.
AY654733 mRNA. Translation: AAT72924.1.
BC140951 mRNA. Translation: AAI40952.1.
CCDSiCCDS21843.1. [P70327-1]
PIRiS72233.
RefSeqiNP_035668.2. NM_011538.2. [P70327-1]
UniGeneiMm.727.

Genome annotation databases

EnsembliENSMUST00000094037; ENSMUSP00000091579; ENSMUSG00000030699. [P70327-1]
ENSMUST00000172352; ENSMUSP00000126418; ENSMUSG00000030699. [P70327-2]
GeneIDi21389.
KEGGimmu:21389.
UCSCiuc009jsr.1. mouse. [P70327-1]
uc012ftu.1. mouse. [P70327-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57331 mRNA. Translation: AAC53110.1. Frameshift.
AY654733 mRNA. Translation: AAT72924.1.
BC140951 mRNA. Translation: AAI40952.1.
CCDSiCCDS21843.1. [P70327-1]
PIRiS72233.
RefSeqiNP_035668.2. NM_011538.2. [P70327-1]
UniGeneiMm.727.

3D structure databases

ProteinModelPortaliP70327.
SMRiP70327. Positions 90-272.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi203991. 3 interactions.
STRINGi10090.ENSMUSP00000091579.

PTM databases

iPTMnetiP70327.
PhosphoSiteiP70327.

Proteomic databases

PaxDbiP70327.
PRIDEiP70327.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000094037; ENSMUSP00000091579; ENSMUSG00000030699. [P70327-1]
ENSMUST00000172352; ENSMUSP00000126418; ENSMUSG00000030699. [P70327-2]
GeneIDi21389.
KEGGimmu:21389.
UCSCiuc009jsr.1. mouse. [P70327-1]
uc012ftu.1. mouse. [P70327-2]

Organism-specific databases

CTDi6911.
MGIiMGI:102539. Tbx6.

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286000.
HOVERGENiHBG017897.
InParanoidiP70327.
KOiK10180.
OMAiGMASFRF.
OrthoDBiEOG091G0I8R.
TreeFamiTF106341.

Miscellaneous databases

PROiP70327.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000030699.
CleanExiMM_TBX6.
GenevisibleiP70327. MM.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00938. BRACHYURY.
PR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBX6_MOUSE
AccessioniPrimary (citable) accession number: P70327
Secondary accession number(s): B2RU37, Q5SDA2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 16, 2012
Last modified: September 7, 2016
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.