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Protein

T-box transcription factor TBX18

Gene

TBX18

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

Functioni

Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi143 – 330T-boxPROSITE-ProRule annotationAdd BLAST188

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SIGNORiO95935

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX18
Short name:
T-box protein 18
Gene namesi
Name:TBX18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112837.16
HGNCiHGNC:11595 TBX18
MIMi604613 gene
neXtProtiNX_O95935

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

Congenital anomalies of kidney and urinary tract 2 (CAKUT2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.
See also OMIM:143400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074629163K → E in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; does not bind DNA; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs797045022EnsemblClinVar.1
Natural variantiVAR_074631524H → Y in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; no effect on DNA binding; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs760905589EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9096
MalaCardsiTBX18
MIMi143400 phenotype
OpenTargetsiENSG00000112837
Orphaneti2190 Congenital hydronephrosis
PharmGKBiPA36358

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844461 – 607T-box transcription factor TBX18Add BLAST607

Proteomic databases

MaxQBiO95935
PaxDbiO95935
PeptideAtlasiO95935
PRIDEiO95935
ProteomicsDBi51134

PTM databases

iPTMnetiO95935
PhosphoSitePlusiO95935

Expressioni

Gene expression databases

BgeeiENSG00000112837 Expressed in 104 organ(s), highest expression level in popliteal artery
CleanExiHS_TBX18
ExpressionAtlasiO95935 baseline and differential
GenevisibleiO95935 HS

Interactioni

Subunit structurei

Homodimer. Can form a heterodimer with TBX15. Interacts with GATA4 AND NKX2-5. Interacts with PAX3 (By similarity). Interacts (via engrailed homology 1 repressor motif) with TLE3; this interaction represses TBX18 transcriptional activity (By similarity) (PubMed:26235987). Interacts with SIX1 (PubMed:26235987).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114550, 2 interactors
CORUMiO95935
IntActiO95935, 5 interactors
STRINGi9606.ENSP00000358677

Structurei

3D structure databases

ProteinModelPortaliO95935
SMRiO95935
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi18 – 28Engrailed homology 1 repressorCuratedAdd BLAST11
Motifi36 – 40Nuclear localization signalCurated5

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000039966
HOVERGENiHBG055831
InParanoidiO95935
KOiK10183
OrthoDBiEOG091G0I8R
PhylomeDBiO95935
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
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

O95935-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEKRRGSPC SMLSLKAHAF SVEALIGAEK QQQLQKKRRK LGAEEAAGAV
60 70 80 90 100
DDGGCSRGGG AGEKGSSEGD EGAALPPPAG ATSGPARSGA DLERGAAGGC
110 120 130 140 150
EDGFQQGASP LASPGGSPKG SPARSLARPG TPLPSPQAPR VDLQGAELWK
160 170 180 190 200
RFHEIGTEMI ITKAGRRMFP AMRVKISGLD PHQQYYIAMD IVPVDNKRYR
210 220 230 240 250
YVYHSSKWMV AGNADSPVPP RVYIHPDSPA SGETWMRQVI SFDKLKLTNN
260 270 280 290 300
ELDDQGHIIL HSMHKYQPRV HVIRKDCGDD LSPIKPVPSG EGVKAFSFPE
310 320 330 340 350
TVFTTVTAYQ NQQITRLKID RNPFAKGFRD SGRNRMGLEA LVESYAFWRP
360 370 380 390 400
SLRTLTFEDI PGIPKQGNAS SSTLLQGTGN GVPATHPHLL SGSSCSSPAF
410 420 430 440 450
HLGPNTSQLC SLAPADYSAC ARSGLTLNRY STSLAETYNR LTNQAGETFA
460 470 480 490 500
PPRTPSYVGV SSSTSVNMSM GGTDGDTFSC PQTSLSMQIS GMSPQLQYIM
510 520 530 540 550
PSPSSNAFAT NQTHQGSYNT FRLHSPCALY GYNFSTSPKL AASPEKIVSS
560 570 580 590 600
QGSFLGSSPS GTMTDRQMLP PVEGVHLLSS GGQQSFFDSR TLGSLTLSSS

QVSAHMV
Length:607
Mass (Da):64,753
Last modified:May 10, 2004 - v3
Checksum:iAFDCE41154CA55DA
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
U3KQH2U3KQH2_HUMAN
T-box transcription factor TBX18
TBX18
232Annotation score:
U3KQ31U3KQ31_HUMAN
T-box transcription factor TBX18
TBX18
176Annotation score:
U3KQQ9U3KQQ9_HUMAN
T-box transcription factor TBX18
TBX18
32Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05226348G → R1 PublicationCorresponds to variant dbSNP:rs172562Ensembl.1
Natural variantiVAR_074629163K → E in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; does not bind DNA; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs797045022EnsemblClinVar.1
Natural variantiVAR_074630164A → T1 Publication1
Natural variantiVAR_074631524H → Y in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; no effect on DNA binding; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs760905589EnsemblClinVar.1
Natural variantiVAR_074632526P → S1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL035694 Genomic DNA No translation available.
BC132715 mRNA Translation: AAI32716.1
BC157841 mRNA Translation: AAI57842.1
AJ010278 mRNA Translation: CAB37937.1
CCDSiCCDS34495.1
RefSeqiNP_001073977.1, NM_001080508.2
UniGeneiHs.251830

Genome annotation databases

EnsembliENST00000369663; ENSP00000358677; ENSG00000112837
GeneIDi9096
KEGGihsa:9096
UCSCiuc003pkl.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Protein Spotlight

At the heart of things - Issue 165 of November 2014

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL035694 Genomic DNA No translation available.
BC132715 mRNA Translation: AAI32716.1
BC157841 mRNA Translation: AAI57842.1
AJ010278 mRNA Translation: CAB37937.1
CCDSiCCDS34495.1
RefSeqiNP_001073977.1, NM_001080508.2
UniGeneiHs.251830

3D structure databases

ProteinModelPortaliO95935
SMRiO95935
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114550, 2 interactors
CORUMiO95935
IntActiO95935, 5 interactors
STRINGi9606.ENSP00000358677

PTM databases

iPTMnetiO95935
PhosphoSitePlusiO95935

Proteomic databases

MaxQBiO95935
PaxDbiO95935
PeptideAtlasiO95935
PRIDEiO95935
ProteomicsDBi51134

Protocols and materials databases

DNASUi9096
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369663; ENSP00000358677; ENSG00000112837
GeneIDi9096
KEGGihsa:9096
UCSCiuc003pkl.4 human

Organism-specific databases

CTDi9096
DisGeNETi9096
EuPathDBiHostDB:ENSG00000112837.16
GeneCardsiTBX18
H-InvDBiHIX0032809
HGNCiHGNC:11595 TBX18
MalaCardsiTBX18
MIMi143400 phenotype
604613 gene
neXtProtiNX_O95935
OpenTargetsiENSG00000112837
Orphaneti2190 Congenital hydronephrosis
PharmGKBiPA36358
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000039966
HOVERGENiHBG055831
InParanoidiO95935
KOiK10183
OrthoDBiEOG091G0I8R
PhylomeDBiO95935
TreeFamiTF106341

Enzyme and pathway databases

SIGNORiO95935

Miscellaneous databases

ChiTaRSiTBX18 human
GenomeRNAii9096
PROiPR:O95935
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112837 Expressed in 104 organ(s), highest expression level in popliteal artery
CleanExiHS_TBX18
ExpressionAtlasiO95935 baseline and differential
GenevisibleiO95935 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
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
ProtoNetiSearch...

Entry informationi

Entry nameiTBX18_HUMAN
AccessioniPrimary (citable) accession number: O95935
Secondary accession number(s): A2RU13, Q7Z6U4, Q9UJI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 10, 2004
Last modified: November 7, 2018
This is version 149 of the entry and version 3 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

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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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Main funding by: National Institutes of Health

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