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O95935

- TBX18_HUMAN

UniProt

O95935 - TBX18_HUMAN

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Protein

T-box transcription factor TBX18

Gene

TBX18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript 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 similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi143 – 330188T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. protein heterodimerization activity Source: BHF-UCL
  2. protein homodimerization activity Source: BHF-UCL
  3. RNA polymerase II transcription corepressor activity Source: BHF-UCL
  4. sequence-specific DNA binding transcription factor activity Source: InterPro
  5. transcription regulatory region sequence-specific DNA binding Source: BHF-UCL

GO - Biological processi

  1. anterior/posterior axis specification Source: Ensembl
  2. cochlea morphogenesis Source: Ensembl
  3. morphogenesis of embryonic epithelium Source: Ensembl
  4. negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation Source: BHF-UCL
  5. negative regulation of transcription from RNA polymerase II promoter Source: GOC
  6. positive regulation of cell-cell adhesion Source: Ensembl
  7. positive regulation of epithelial cell proliferation Source: Ensembl
  8. positive regulation of mesenchymal cell proliferation involved in ureter development Source: Ensembl
  9. sensory perception of sound Source: Ensembl
  10. sinoatrial node development Source: Ensembl
  11. smooth muscle cell differentiation Source: Ensembl
  12. somitogenesis Source: Ensembl
  13. ureter development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:11595. TBX18.

Subcellular locationi

Nucleus By similarityPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36358.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 607607T-box transcription factor TBX18PRO_0000184446Add
BLAST

Proteomic databases

MaxQBiO95935.
PaxDbiO95935.
PRIDEiO95935.

PTM databases

PhosphoSiteiO95935.

Expressioni

Gene expression databases

BgeeiO95935.
CleanExiHS_TBX18.
ExpressionAtlasiO95935. baseline and differential.
GenevestigatoriO95935.

Organism-specific databases

HPAiHPA029014.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000358677.

Structurei

3D structure databases

ProteinModelPortaliO95935.
SMRiO95935. Positions 141-330.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi18 – 2811Engrailed homology 1 repressorCuratedAdd
BLAST
Motifi36 – 405Nuclear localization signalCurated

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG259442.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000039966.
HOVERGENiHBG055831.
InParanoidiO95935.
KOiK10183.
OMAiANQTHQG.
OrthoDBiEOG7GN2PM.
PhylomeDBiO95935.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. 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]

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481G → R.1 Publication
Corresponds to variant rs172562 [ dbSNP | Ensembl ].
VAR_052263

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL035694 Genomic DNA. Translation: CAD92511.1.
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.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL035694 Genomic DNA. Translation: CAD92511.1 .
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.
UniGenei Hs.251830.

3D structure databases

ProteinModelPortali O95935.
SMRi O95935. Positions 141-330.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000358677.

PTM databases

PhosphoSitei O95935.

Proteomic databases

MaxQBi O95935.
PaxDbi O95935.
PRIDEi O95935.

Protocols and materials databases

DNASUi 9096.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369663 ; ENSP00000358677 ; ENSG00000112837 .
GeneIDi 9096.
KEGGi hsa:9096.
UCSCi uc003pkl.2. human.

Organism-specific databases

CTDi 9096.
GeneCardsi GC06M085400.
H-InvDB HIX0032809.
HGNCi HGNC:11595. TBX18.
HPAi HPA029014.
MIMi 604613. gene.
neXtProti NX_O95935.
PharmGKBi PA36358.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259442.
GeneTreei ENSGT00760000118897.
HOGENOMi HOG000039966.
HOVERGENi HBG055831.
InParanoidi O95935.
KOi K10183.
OMAi ANQTHQG.
OrthoDBi EOG7GN2PM.
PhylomeDBi O95935.
TreeFami TF106341.

Miscellaneous databases

ChiTaRSi TBX18. human.
GenomeRNAii 9096.
NextBioi 34085.
PROi O95935.
SOURCEi Search...

Gene expression databases

Bgeei O95935.
CleanExi HS_TBX18.
ExpressionAtlasi O95935. baseline and differential.
Genevestigatori O95935.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
[Graphical view ]
PRINTSi PR00937. TBOX.
SMARTi SM00425. TBOX. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-48.
  3. "Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19."
    Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A., Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.
    Genomics 55:10-20(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 149-330.

Entry informationi

Entry nameiTBX18_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 118 of the entry and version 3 of the sequence. [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 chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3