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O95947 (TBX6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 132. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX6

Short name=T-box protein 6
Gene names
Name:TBX6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length436 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia By similarity.

Subunit structure

Forms a dimeric complex with DNA (in vitro).

Subcellular location

Nucleus Potential.

Tissue specificity

Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.

Developmental stage

Expressed during gastrulation and during a second phase in some adult tissues.

Involvement in disease

Spondylocostal dysostosis 5, autosomal dominant (SCDO5) [MIM:122600]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDwarfism
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement Ref.6. Source: ProtInc

cell fate specification

Inferred from electronic annotation. Source: Ensembl

mesoderm development

Traceable author statement Ref.1. Source: ProtInc

mesoderm formation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

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

signal transduction involved in regulation of gene expression

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Traceable author statement Ref.1. Source: ProtInc

RNA polymerase II activating transcription factor binding

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

RNA polymerase II transcription factor binding

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

RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription

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

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95947-1)

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.
Isoform 2 (identifier: O95947-2)

The sequence of this isoform differs from the canonical sequence as follows:
     281-294: ERDARVKRKLRGPE → WELFIHLFMHSTNV
     295-435: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 436436T-box transcription factor TBX6
PRO_0000184438

Regions

DNA binding100 – 273174T-box

Natural variations

Alternative sequence281 – 29414ERDAR…LRGPE → WELFIHLFMHSTNV in isoform 2.
VSP_054003
Alternative sequence295 – 435141Missing in isoform 2.
VSP_054004
Natural variant1621G → S.
Corresponds to variant rs56098093 [ dbSNP | Ensembl ].
VAR_061837
Natural variant1781S → F.
Corresponds to variant rs12925839 [ dbSNP | Ensembl ].
VAR_027836
Natural variant1791P → S.
Corresponds to variant rs12925838 [ dbSNP | Ensembl ].
VAR_027837

Experimental info

Sequence conflict2071H → HV in CAB37938. Ref.6
Sequence conflict388 – 3892EL → DV in CAA07812. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 3, 2006. Version 2.
Checksum: 649CDFB141B966F4

FASTA43647,045
        10         20         30         40         50         60 
MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL SGMEAAPRTL 

        70         80         90        100        110        120 
AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL WKEFSSVGTE MIITKAGRRM 

       130        140        150        160        170        180 
FPACRVSVTG LDPEARYLFL LDVIPVDGAR YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA 

       190        200        210        220        230        240 
TGAHWMRQPV SFHRVKLTNS TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR 

       250        260        270        280        290        300 
FPETTFISVT AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA 

       310        320        330        340        350        360 
YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL LHPAAFHGAP 

       370        380        390        400        410        420 
SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA APPAVPFAPH FLQGGPFPLP 

       430 
YTAPGGYLDV GSKPMY 

« Hide

Isoform 2 [UniParc].

Checksum: F2BD3E53E0ED21E0
Show »

FASTA29533,197

References

« Hide 'large scale' references
[1]"The human TBX6 gene: cloning and assignment to chromosome 16p11.2."
Papapetrou C., Putt W., Fox M., Edwards Y.H.
Genomics 55:238-241(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Mammary gland.
[3]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORM 1).
Tissue: Brain.
[6]"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 [GENOMIC DNA] OF 135-272.
Tissue: Myeloid.
[7]"Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6."
Sparrow D.B., McInerney-Leo A., Gucev Z.S., Gardiner B., Marshall M., Leo P.J., Chapman D.L., Tasic V., Shishko A., Brown M.A., Duncan E.L., Dunwoodie S.L.
Hum. Mol. Genet. 22:1625-1631(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SCDO5.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ007989 mRNA. Translation: CAA07812.1.
AK022330 mRNA. Translation: BAB14014.1.
AC012645 Genomic DNA. No translation available.
AC093512 Genomic DNA. No translation available.
CH471238 Genomic DNA. Translation: EAW79927.1.
BC026031 mRNA. Translation: AAH26031.1.
AJ010279 Genomic DNA. Translation: CAB37938.1.
CCDSCCDS10670.1.
RefSeqNP_004599.2. NM_004608.3. [O95947-1]
XP_005255580.1. XM_005255523.1. [O95947-1]
UniGeneHs.198301.

3D structure databases

ProteinModelPortalO95947.
SMRO95947. Positions 90-272.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112774. 1 interaction.
IntActO95947. 2 interactions.
MINTMINT-6772404.
STRING9606.ENSP00000279386.

PTM databases

PhosphoSiteO95947.

Proteomic databases

PaxDbO95947.
PRIDEO95947.

Protocols and materials databases

DNASU6911.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000279386; ENSP00000279386; ENSG00000149922.
ENST00000395224; ENSP00000378650; ENSG00000149922.
ENST00000553607; ENSP00000461223; ENSG00000149922.
GeneID6911.
KEGGhsa:6911.
UCSCuc010veh.2. human. [O95947-1]

Organism-specific databases

CTD6911.
GeneCardsGC16M030097.
HGNCHGNC:11605. TBX6.
MIM122600. phenotype.
602427. gene.
neXtProtNX_O95947.
Orphanet1797. Autosomal dominant spondylocostal dysostosis.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
2578. MURCS association.
PharmGKBPA36368.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG240293.
HOGENOMHOG000286000.
HOVERGENHBG101171.
InParanoidO95947.
KOK10180.
OMAFAPHFLQ.
OrthoDBEOG7JMGDH.
PhylomeDBO95947.
TreeFamTF106341.

Gene expression databases

ArrayExpressO95947.
BgeeO95947.
CleanExHS_TBX6.
GenevestigatorO95947.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00938. BRACHYURY.
PR00937. 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

GenomeRNAi6911.
NextBio13651042.
PROO95947.
SOURCESearch...

Entry information

Entry nameTBX6_HUMAN
AccessionPrimary (citable) accession number: O95947
Secondary accession number(s): Q8TAS4, Q9HA44
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 3, 2006
Last modified: July 9, 2014
This is version 132 of the entry and version 2 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 16

Human chromosome 16: entries, gene names and cross-references to MIM