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Protein

T-box transcription factor TBX6

Gene

Tbx6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi100 – 273T-boxPROSITE-ProRule annotationAdd BLAST174

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:102539 Tbx6

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

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)DescriptionActionsGraphical viewLength
ChainiPRO_00001844391 – 436T-box transcription factor TBX6Add BLAST436

Proteomic databases

PaxDbiP70327
PRIDEiP70327

PTM databases

iPTMnetiP70327
PhosphoSitePlusiP70327

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 Expressed in 77 organ(s), highest expression level in embryo
CleanExiMM_TBX6
GenevisibleiP70327 MM

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi203991, 1 interactor
IntActiP70327, 2 interactors
STRINGi10090.ENSMUSP00000091579

Structurei

3D structure databases

ProteinModelPortaliP70327
SMRiP70327
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG101171
InParanoidiP70327
KOiK10180
OMAiSAEAYLM
OrthoDBiEOG091G0I8R
TreeFamiTF106341

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
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00938 BRACHYURY
PR00937 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: 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)DescriptionActionsGraphical viewLength
Sequence conflicti156 – 157QH → PD in AAC53110 (PubMed:8878690).Curated2
Sequence conflicti331Q → R in AAC53110 (PubMed:8878690).Curated1
Sequence conflicti331Q → R in AAI40952 (PubMed:15489334).Curated1
Sequence conflicti370F → L in AAC53110 (PubMed:8878690).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043221281 – 304ERDAR…ACGSG → WASFIQGMLTNYCVPGTVPG YQEHD in isoform 2. 1 PublicationAdd BLAST24

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi203991, 1 interactor
IntActiP70327, 2 interactors
STRINGi10090.ENSMUSP00000091579

PTM databases

iPTMnetiP70327
PhosphoSitePlusiP70327

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
HOVERGENiHBG101171
InParanoidiP70327
KOiK10180
OMAiSAEAYLM
OrthoDBiEOG091G0I8R
TreeFamiTF106341

Miscellaneous databases

PROiPR:P70327
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000030699 Expressed in 77 organ(s), highest expression level in embryo
CleanExiMM_TBX6
GenevisibleiP70327 MM

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
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00938 BRACHYURY
PR00937 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
ProtoNetiSearch...

Entry informationi

Entry nameiTBX6_MOUSE
AccessioniPrimary (citable) accession number: P70327
Secondary accession number(s): B2RU37, Q5SDA2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 16, 2012
Last modified: November 7, 2018
This is version 140 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

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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