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Protein

T-box transcription factor TBX3

Gene

TBX3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi107 – 220T-box; first partPROSITE-ProRule annotationAdd BLAST114
DNA bindingi241 – 305T-box; second partPROSITE-ProRule annotationAdd BLAST65

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SIGNORiO15119

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX3
Short name:
T-box protein 3
Gene namesi
Name:TBX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000135111.14
HGNCiHGNC:11602 TBX3
MIMi601621 gene
neXtProtiNX_O15119

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

Involvement in diseasei

Ulnar-mammary syndrome (UMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.
See also OMIM:181450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009601143L → P in UMS. 1 Publication1
Natural variantiVAR_009602149Y → S in UMS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6926
MalaCardsiTBX3
MIMi181450 phenotype
OpenTargetsiENSG00000135111
Orphaneti3138 Ulnar-mammary syndrome
PharmGKBiPA36365

Polymorphism and mutation databases

BioMutaiTBX3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844281 – 743T-box transcription factor TBX3Add BLAST743

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei371PhosphoserineCombined sources1
Modified residuei432PhosphoserineCombined sources1
Modified residuei438PhosphoserineCombined sources1
Modified residuei456PhosphoserineCombined sources1
Modified residuei707PhosphoserineCombined sources1
Modified residuei738PhosphoserineCombined sources1
Modified residuei740PhosphoserineCombined sources1
Modified residuei742PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO15119
PeptideAtlasiO15119
PRIDEiO15119
ProteomicsDBi48454
48455 [O15119-2]
48456 [O15119-3]

PTM databases

iPTMnetiO15119
PhosphoSitePlusiO15119

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000135111 Expressed in 201 organ(s), highest expression level in adrenal cortex
CleanExiHS_TBX3
ExpressionAtlasiO15119 baseline and differential
GenevisibleiO15119 HS

Organism-specific databases

HPAiHPA005799

Interactioni

Subunit structurei

Interacts with PML (isoform PML-4).1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112788, 22 interactors
IntActiO15119, 19 interactors
MINTiO15119
STRINGi9606.ENSP00000257566

Structurei

Secondary structure

1743
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO15119
SMRiO15119
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15119

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni544 – 695Transcription repressionAdd BLAST152

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000038046
HOVERGENiHBG000412
InParanoidiO15119
KOiK10177
OMAiRHPFLNA
OrthoDBiEOG091G0I8R
PhylomeDBiO15119
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
IPR022582 TBX
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PF12598 TBX, 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 (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform II (identifier: O15119-1) [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
MSLSMRDPVI PGTSMAYHPF LPHRAPDFAM SAVLGHQPPF FPALTLPPNG
60 70 80 90 100
AAALSLPGAL AKPIMDQLVG AAETGIPFSS LGPQAHLRPL KTMEPEEEVE
110 120 130 140 150
DDPKVHLEAK ELWDQFHKRG TEMVITKSGR RMFPPFKVRC SGLDKKAKYI
160 170 180 190 200
LLMDIIAADD CRYKFHNSRW MVAGKADPEM PKRMYIHPDS PATGEQWMSK
210 220 230 240 250
VVTFHKLKLT NNISDKHGFT LAFPSDHATW QGNYSFGTQT ILNSMHKYQP
260 270 280 290 300
RFHIVRANDI LKLPYSTFRT YLFPETEFIA VTAYQNDKIT QLKIDNNPFA
310 320 330 340 350
KGFRDTGNGR REKRKQLTLQ SMRVFDERHK KENGTSDESS SEQAAFNCFA
360 370 380 390 400
QASSPAASTV GTSNLKDLCP SEGESDAEAE SKEEHGPEAC DAAKISTTTS
410 420 430 440 450
EEPCRDKGSP AVKAHLFAAE RPRDSGRLDK ASPDSRHSPA TISSSTRGLG
460 470 480 490 500
AEERRSPVRE GTAPAKVEEA RALPGKEAFA PLTVQTDAAA AHLAQGPLPG
510 520 530 540 550
LGFAPGLAGQ QFFNGHPLFL HPSQFAMGGA FSSMAAAGMG PLLATVSGAS
560 570 580 590 600
TGVSGLDSTA MASAAAAQGL SGASAATLPF HLQQHVLASQ GLAMSPFGSL
610 620 630 640 650
FPYPYTYMAA AAAASSAAAS SSVHRHPFLN LNTMRPRLRY SPYSIPVPVP
660 670 680 690 700
DGSSLLTTAL PSMAAAAGPL DGKVAALAAS PASVAVDSGS ELNSRSSTLS
710 720 730 740
SSSMSLSPKL CAEKEAATSE LQSIQRLVSG LEAKPDRSRS ASP
Note: Contains an interrupted T-box domain.
Length:743
Mass (Da):79,389
Last modified:February 12, 2003 - v4
Checksum:iD5572F9CF871E89F
GO
Isoform I (identifier: O15119-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     221-240: Missing.

Show »
Length:723
Mass (Da):77,178
Checksum:i08A64D15A005F0CF
GO
Isoform III (identifier: O15119-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     490-615: Missing.
     661-677: Missing.

Note: Contains an interrupted T-box domain.
Show »
Length:600
Mass (Da):65,604
Checksum:iFCCF7491391BE8DA
GO
Isoform IV (identifier: O15119-4)
Sequence is not available
Note: May be produced by joining exon 1 to exon 7 thereby eliminating the T-box.
Length:
Mass (Da):

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti315K → Q in AAF61207 (Ref. 4) Curated1
Sequence conflicti616 – 628SAAAS…HRHPF → LRQPQLRCTAPL (PubMed:10468588).CuratedAdd BLAST13
Sequence conflicti674V → A in AAD50989 (PubMed:10468588).Curated1
Sequence conflicti692L → P in AAD50989 (PubMed:10468588).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009601143L → P in UMS. 1 Publication1
Natural variantiVAR_009602149Y → S in UMS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006384221 – 240Missing in isoform I. 2 PublicationsAdd BLAST20
Alternative sequenceiVSP_006385490 – 615Missing in isoform III. 1 PublicationAdd BLAST126
Alternative sequenceiVSP_006386661 – 677Missing in isoform III. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF170708 mRNA Translation: AAD50989.2
AF002228 mRNA Translation: AAC12947.1
AF140240 mRNA Translation: AAF61816.1
AF216750 mRNA Translation: AAF61207.1
BC025258 mRNA Translation: AAH25258.1
CCDSiCCDS9175.1 [O15119-2]
CCDS9176.1 [O15119-1]
RefSeqiNP_005987.3, NM_005996.3 [O15119-2]
NP_057653.3, NM_016569.3 [O15119-1]
UniGeneiHs.744016

Genome annotation databases

EnsembliENST00000257566; ENSP00000257566; ENSG00000135111 [O15119-1]
ENST00000349155; ENSP00000257567; ENSG00000135111 [O15119-2]
GeneIDi6926
KEGGihsa:6926
UCSCiuc001tvt.2 human [O15119-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF170708 mRNA Translation: AAD50989.2
AF002228 mRNA Translation: AAC12947.1
AF140240 mRNA Translation: AAF61816.1
AF216750 mRNA Translation: AAF61207.1
BC025258 mRNA Translation: AAH25258.1
CCDSiCCDS9175.1 [O15119-2]
CCDS9176.1 [O15119-1]
RefSeqiNP_005987.3, NM_005996.3 [O15119-2]
NP_057653.3, NM_016569.3 [O15119-1]
UniGeneiHs.744016

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H6FX-ray1.70A/B101-311[»]
ProteinModelPortaliO15119
SMRiO15119
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112788, 22 interactors
IntActiO15119, 19 interactors
MINTiO15119
STRINGi9606.ENSP00000257566

PTM databases

iPTMnetiO15119
PhosphoSitePlusiO15119

Polymorphism and mutation databases

BioMutaiTBX3

Proteomic databases

PaxDbiO15119
PeptideAtlasiO15119
PRIDEiO15119
ProteomicsDBi48454
48455 [O15119-2]
48456 [O15119-3]

Protocols and materials databases

DNASUi6926
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257566; ENSP00000257566; ENSG00000135111 [O15119-1]
ENST00000349155; ENSP00000257567; ENSG00000135111 [O15119-2]
GeneIDi6926
KEGGihsa:6926
UCSCiuc001tvt.2 human [O15119-1]

Organism-specific databases

CTDi6926
DisGeNETi6926
EuPathDBiHostDB:ENSG00000135111.14
GeneCardsiTBX3
HGNCiHGNC:11602 TBX3
HPAiHPA005799
MalaCardsiTBX3
MIMi181450 phenotype
601621 gene
neXtProtiNX_O15119
OpenTargetsiENSG00000135111
Orphaneti3138 Ulnar-mammary syndrome
PharmGKBiPA36365
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000038046
HOVERGENiHBG000412
InParanoidiO15119
KOiK10177
OMAiRHPFLNA
OrthoDBiEOG091G0I8R
PhylomeDBiO15119
TreeFamiTF106341

Enzyme and pathway databases

SIGNORiO15119

Miscellaneous databases

ChiTaRSiTBX3 human
EvolutionaryTraceiO15119
GeneWikiiTBX3
GenomeRNAii6926
PROiPR:O15119
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135111 Expressed in 201 organ(s), highest expression level in adrenal cortex
CleanExiHS_TBX3
ExpressionAtlasiO15119 baseline and differential
GenevisibleiO15119 HS

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
IPR022582 TBX
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PF12598 TBX, 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
ProtoNetiSearch...

Entry informationi

Entry nameiTBX3_HUMAN
AccessioniPrimary (citable) accession number: O15119
Secondary accession number(s): Q8TB20, Q9UKF8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 12, 2003
Last modified: November 7, 2018
This is version 188 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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