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O95935 (TBX18_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX18

Short name=T-box protein 18
Gene names
Name:TBX18
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length607 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable transcriptional regulator involved in developmental processes.

Subcellular location

Nucleus Potential.

Sequence similarities

Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterior/posterior axis specification

Inferred from electronic annotation. Source: Ensembl

cochlea morphogenesis

Inferred from electronic annotation. Source: Ensembl

morphogenesis of embryonic epithelium

Inferred from electronic annotation. Source: Ensembl

negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: GOC

positive regulation of cell-cell adhesion

Inferred from electronic annotation. Source: Ensembl

positive regulation of epithelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of mesenchymal cell proliferation involved in ureter development

Inferred from electronic annotation. Source: Ensembl

sensory perception of sound

Inferred from electronic annotation. Source: Ensembl

sinoatrial node development

Inferred from electronic annotation. Source: Ensembl

smooth muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

somitogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from sequence or structural similarity. Source: BHF-UCL

   Molecular_functionRNA polymerase II transcription corepressor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

protein heterodimerization activity

Inferred from sequence or structural similarity. Source: BHF-UCL

protein homodimerization activity

Inferred from sequence or structural similarity. Source: BHF-UCL

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

transcription regulatory region sequence-specific DNA binding

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 607607T-box transcription factor TBX18
PRO_0000184446

Regions

DNA binding143 – 330188T-box

Natural variations

Natural variant481G → R. Ref.2
Corresponds to variant rs172562 [ dbSNP | Ensembl ].
VAR_052263

Sequences

Sequence LengthMass (Da)Tools
O95935 [UniParc].

Last modified May 10, 2004. Version 3.
Checksum: AFDCE41154CA55DA

FASTA60764,753
        10         20         30         40         50         60 
MAEKRRGSPC SMLSLKAHAF SVEALIGAEK QQQLQKKRRK LGAEEAAGAV DDGGCSRGGG 

        70         80         90        100        110        120 
AGEKGSSEGD EGAALPPPAG ATSGPARSGA DLERGAAGGC EDGFQQGASP LASPGGSPKG 

       130        140        150        160        170        180 
SPARSLARPG TPLPSPQAPR VDLQGAELWK RFHEIGTEMI ITKAGRRMFP AMRVKISGLD 

       190        200        210        220        230        240 
PHQQYYIAMD IVPVDNKRYR YVYHSSKWMV AGNADSPVPP RVYIHPDSPA SGETWMRQVI 

       250        260        270        280        290        300 
SFDKLKLTNN ELDDQGHIIL HSMHKYQPRV HVIRKDCGDD LSPIKPVPSG EGVKAFSFPE 

       310        320        330        340        350        360 
TVFTTVTAYQ NQQITRLKID RNPFAKGFRD SGRNRMGLEA LVESYAFWRP SLRTLTFEDI 

       370        380        390        400        410        420 
PGIPKQGNAS SSTLLQGTGN GVPATHPHLL SGSSCSSPAF HLGPNTSQLC SLAPADYSAC 

       430        440        450        460        470        480 
ARSGLTLNRY STSLAETYNR LTNQAGETFA PPRTPSYVGV SSSTSVNMSM GGTDGDTFSC 

       490        500        510        520        530        540 
PQTSLSMQIS GMSPQLQYIM PSPSSNAFAT NQTHQGSYNT FRLHSPCALY GYNFSTSPKL 

       550        560        570        580        590        600 
AASPEKIVSS QGSFLGSSPS GTMTDRQMLP PVEGVHLLSS GGQQSFFDSR TLGSLTLSSS 


QVSAHMV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL035694 Genomic DNA. Translation: CAD92511.1.
BC132715 mRNA. Translation: AAI32716.1.
BC157841 mRNA. Translation: AAI57842.1.
AJ010278 mRNA. Translation: CAB37937.1.
CCDSCCDS34495.1.
RefSeqNP_001073977.1. NM_001080508.2.
UniGeneHs.251830.

3D structure databases

ProteinModelPortalO95935.
SMRO95935. Positions 141-330.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000358677.

PTM databases

PhosphoSiteO95935.

Proteomic databases

MaxQBO95935.
PaxDbO95935.
PRIDEO95935.

Protocols and materials databases

DNASU9096.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369663; ENSP00000358677; ENSG00000112837.
GeneID9096.
KEGGhsa:9096.
UCSCuc003pkl.2. human.

Organism-specific databases

CTD9096.
GeneCardsGC06M085400.
H-InvDBHIX0032809.
HGNCHGNC:11595. TBX18.
HPAHPA029014.
MIM604613. gene.
neXtProtNX_O95935.
PharmGKBPA36358.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259442.
HOGENOMHOG000039966.
HOVERGENHBG055831.
InParanoidO95935.
KOK10183.
OMAANQTHQG.
OrthoDBEOG7GN2PM.
PhylomeDBO95935.
TreeFamTF106341.

Gene expression databases

BgeeO95935.
CleanExHS_TBX18.
GenevestigatorO95935.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTBX18. human.
GenomeRNAi9096.
NextBio34085.
PROO95935.
SOURCESearch...

Entry information

Entry nameTBX18_HUMAN
AccessionPrimary (citable) accession number: O95935
Secondary accession number(s): A2RU13, Q7Z6U4, Q9UJI6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 10, 2004
Last modified: July 9, 2014
This is version 116 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM