UniProtKB - O95935 (TBX18_HUMAN)
T-box transcription factor TBX18
TBX18
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 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 143 – 330 | T-boxPROSITE-ProRule annotationAdd BLAST | 188 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription cis-regulatory region binding Source: BHF-UCL
GO - Biological processi
- cell fate specification Source: GO_Central
- cochlea morphogenesis Source: ARUK-UCL
- morphogenesis of embryonic epithelium Source: GO_Central
- negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation Source: BHF-UCL
- regulation of SA node cell action potential Source: BHF-UCL
- regulation of transcription by RNA polymerase II Source: GO_Central
- sinoatrial node cell development Source: BHF-UCL
- sinoatrial node cell fate commitment Source: BHF-UCL
- sinoatrial node development Source: BHF-UCL
- smooth muscle cell differentiation Source: ARUK-UCL
- somitogenesis Source: ARUK-UCL
- ureter development Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O95935 |
SignaLinki | O95935 |
SIGNORi | O95935 |
Names & Taxonomyi
Protein namesi | Recommended name: T-box transcription factor TBX18Short name: T-box protein 18 |
Gene namesi | Name:TBX18 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11595, TBX18 |
MIMi | 604613, gene |
neXtProti | NX_O95935 |
VEuPathDBi | HostDB:ENSG00000112837 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- RNA polymerase II transcription repressor complex Source: ARUK-UCL
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Congenital anomalies of kidney and urinary tract 2 (CAKUT2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074629 | 163 | K → 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_074631 | 524 | H → 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 variantOrganism-specific databases
DisGeNETi | 9096 |
MalaCardsi | TBX18 |
MIMi | 143400, phenotype |
OpenTargetsi | ENSG00000112837 |
PharmGKBi | PA36358 |
Miscellaneous databases
Pharosi | O95935, Tbio |
Genetic variation databases
BioMutai | TBX18 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184446 | 1 – 607 | T-box transcription factor TBX18Add BLAST | 607 |
Proteomic databases
jPOSTi | O95935 |
MassIVEi | O95935 |
MaxQBi | O95935 |
PaxDbi | O95935 |
PeptideAtlasi | O95935 |
PRIDEi | O95935 |
ProteomicsDBi | 51134 |
PTM databases
iPTMneti | O95935 |
PhosphoSitePlusi | O95935 |
Expressioni
Gene expression databases
Bgeei | ENSG00000112837, Expressed in popliteal artery and 125 other tissues |
ExpressionAtlasi | O95935, baseline and differential |
Genevisiblei | O95935, HS |
Organism-specific databases
HPAi | ENSG00000112837, Low tissue specificity |
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 PublicationBinary interactionsi
O95935
With | #Exp. | IntAct |
---|---|---|
ARC [Q7LC44] | 3 | EBI-12085364,EBI-750550 |
KRTAP8-1 [Q8IUC2] | 3 | EBI-12085364,EBI-10261141 |
PLEKHG4 [Q58EX7] | 3 | EBI-12085364,EBI-949255 |
TRAF1 [Q13077] | 3 | EBI-12085364,EBI-359224 |
GO - Molecular functioni
- protein homodimerization activity Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 114550, 6 interactors |
CORUMi | O95935 |
IntActi | O95935, 4 interactors |
STRINGi | 9606.ENSP00000358677 |
Miscellaneous databases
RNActi | O95935, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 30 – 141 | DisorderedSequence analysisAdd BLAST | 112 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 18 – 28 | Engrailed homology 1 repressorCuratedAdd BLAST | 11 | |
Motifi | 36 – 40 | Nuclear localization signalCurated | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 32 – 46 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000155566 |
HOGENOMi | CLU_030727_0_0_1 |
InParanoidi | O95935 |
OMAi | MSMSGND |
OrthoDBi | 828211at2759 |
PhylomeDBi | O95935 |
TreeFami | TF106341 |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketU3KQ31 | U3KQ31_HUMAN | T-box transcription factor TBX18 | TBX18 | 176 | Annotation score: | ||
U3KQH2 | U3KQH2_HUMAN | T-box transcription factor TBX18 | TBX18 | 232 | Annotation score: | ||
U3KQQ9 | U3KQQ9_HUMAN | T-box transcription factor TBX18 | TBX18 | 32 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052263 | 48 | G → R1 PublicationCorresponds to variant dbSNP:rs172562EnsemblClinVar. | 1 | |
Natural variantiVAR_074629 | 163 | K → 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_074630 | 164 | A → T1 Publication | 1 | |
Natural variantiVAR_074631 | 524 | H → 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_074632 | 526 | P → S1 Publication | 1 |
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 |
CCDSi | CCDS34495.1 |
RefSeqi | NP_001073977.1, NM_001080508.2 |
Genome annotation databases
Ensembli | ENST00000369663; ENSP00000358677; ENSG00000112837 |
GeneIDi | 9096 |
KEGGi | hsa:9096 |
MANE-Selecti | ENST00000369663.10; ENSP00000358677.4; NM_001080508.3; NP_001073977.1 |
UCSCi | uc003pkl.4, human |
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 |
CCDSi | CCDS34495.1 |
RefSeqi | NP_001073977.1, NM_001080508.2 |
3D structure databases
SMRi | O95935 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114550, 6 interactors |
CORUMi | O95935 |
IntActi | O95935, 4 interactors |
STRINGi | 9606.ENSP00000358677 |
PTM databases
iPTMneti | O95935 |
PhosphoSitePlusi | O95935 |
Genetic variation databases
BioMutai | TBX18 |
Proteomic databases
jPOSTi | O95935 |
MassIVEi | O95935 |
MaxQBi | O95935 |
PaxDbi | O95935 |
PeptideAtlasi | O95935 |
PRIDEi | O95935 |
ProteomicsDBi | 51134 |
Protocols and materials databases
Antibodypediai | 18548, 273 antibodies from 34 providers |
DNASUi | 9096 |
Genome annotation databases
Ensembli | ENST00000369663; ENSP00000358677; ENSG00000112837 |
GeneIDi | 9096 |
KEGGi | hsa:9096 |
MANE-Selecti | ENST00000369663.10; ENSP00000358677.4; NM_001080508.3; NP_001073977.1 |
UCSCi | uc003pkl.4, human |
Organism-specific databases
CTDi | 9096 |
DisGeNETi | 9096 |
GeneCardsi | TBX18 |
HGNCi | HGNC:11595, TBX18 |
HPAi | ENSG00000112837, Low tissue specificity |
MalaCardsi | TBX18 |
MIMi | 143400, phenotype 604613, gene |
neXtProti | NX_O95935 |
OpenTargetsi | ENSG00000112837 |
PharmGKBi | PA36358 |
VEuPathDBi | HostDB:ENSG00000112837 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000155566 |
HOGENOMi | CLU_030727_0_0_1 |
InParanoidi | O95935 |
OMAi | MSMSGND |
OrthoDBi | 828211at2759 |
PhylomeDBi | O95935 |
TreeFami | TF106341 |
Enzyme and pathway databases
PathwayCommonsi | O95935 |
SignaLinki | O95935 |
SIGNORi | O95935 |
Miscellaneous databases
BioGRID-ORCSi | 9096, 4 hits in 1078 CRISPR screens |
ChiTaRSi | TBX18, human |
GenomeRNAii | 9096 |
Pharosi | O95935, Tbio |
PROi | PR:O95935 |
RNActi | O95935, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112837, Expressed in popliteal artery and 125 other tissues |
ExpressionAtlasi | O95935, baseline and differential |
Genevisiblei | O95935, HS |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TBX18_HUMAN | |
Accessioni | O95935Primary (citable) accession number: O95935 Secondary accession number(s): A2RU13, Q7Z6U4, Q9UJI6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | May 10, 2004 | |
Last modified: | February 23, 2022 | |
This is version 167 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries