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O95947

- TBX6_HUMAN

UniProt

O95947 - TBX6_HUMAN

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Protein
T-box transcription factor TBX6
Gene
TBX6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi100 – 273174T-box
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: ProtInc
  2. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  3. RNA polymerase II transcription factor binding Source: BHF-UCL
  4. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
  5. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. cell fate specification Source: Ensembl
  3. mesoderm development Source: ProtInc
  4. mesoderm formation Source: Ensembl
  5. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  6. signal transduction involved in regulation of gene expression Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX6
Short name:
T-box protein 6
Gene namesi
Name:TBX6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:11605. TBX6.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Dwarfism

Organism-specific databases

MIMi122600. phenotype.
Orphaneti1797. Autosomal dominant spondylocostal dysostosis.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
2578. MURCS association.
PharmGKBiPA36368.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 436436T-box transcription factor TBX6
PRO_0000184438Add
BLAST

Proteomic databases

PaxDbiO95947.
PRIDEiO95947.

PTM databases

PhosphoSiteiO95947.

Expressioni

Tissue specificityi

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

Developmental stagei

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

Gene expression databases

ArrayExpressiO95947.
BgeeiO95947.
CleanExiHS_TBX6.
GenevestigatoriO95947.

Interactioni

Subunit structurei

Forms a dimeric complex with DNA (in vitro).

Protein-protein interaction databases

BioGridi112774. 1 interaction.
IntActiO95947. 2 interactions.
MINTiMINT-6772404.
STRINGi9606.ENSP00000279386.

Structurei

3D structure databases

ProteinModelPortaliO95947.
SMRiO95947. Positions 90-272.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG240293.
HOGENOMiHOG000286000.
HOVERGENiHBG101171.
InParanoidiO95947.
KOiK10180.
OMAiFAPHFLQ.
OrthoDBiEOG7JMGDH.
PhylomeDBiO95947.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00938. BRACHYURY.
PR00937. 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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O95947-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL    50
SGMEAAPRTL AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL 100
WKEFSSVGTE MIITKAGRRM FPACRVSVTG LDPEARYLFL LDVIPVDGAR 150
YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA TGAHWMRQPV SFHRVKLTNS 200
TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR FPETTFISVT 250
AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA 300
YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL 350
LHPAAFHGAP SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA 400
APPAVPFAPH FLQGGPFPLP YTAPGGYLDV GSKPMY 436
Length:436
Mass (Da):47,045
Last modified:October 3, 2006 - v2
Checksum:i649CDFB141B966F4
GO
Isoform 2 (identifier: O95947-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     281-294: ERDARVKRKLRGPE → WELFIHLFMHSTNV
     295-435: Missing.

Note: No experimental confirmation available.

Show »
Length:295
Mass (Da):33,197
Checksum:iF2BD3E53E0ED21E0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti162 – 1621G → S.
Corresponds to variant rs56098093 [ dbSNP | Ensembl ].
VAR_061837
Natural varianti178 – 1781S → F.
Corresponds to variant rs12925839 [ dbSNP | Ensembl ].
VAR_027836
Natural varianti179 – 1791P → S.
Corresponds to variant rs12925838 [ dbSNP | Ensembl ].
VAR_027837

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei281 – 29414ERDAR…LRGPE → WELFIHLFMHSTNV in isoform 2.
VSP_054003Add
BLAST
Alternative sequencei295 – 435141Missing in isoform 2.
VSP_054004Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti207 – 2071H → HV in CAB37938. 1 Publication
Sequence conflicti388 – 3892EL → DV in CAA07812. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS10670.1. [O95947-1]
RefSeqiNP_004599.2. NM_004608.3. [O95947-1]
XP_005255580.1. XM_005255523.1. [O95947-1]
UniGeneiHs.198301.

Genome annotation databases

EnsembliENST00000279386; ENSP00000279386; ENSG00000149922.
ENST00000395224; ENSP00000378650; ENSG00000149922.
ENST00000553607; ENSP00000461223; ENSG00000149922.
GeneIDi6911.
KEGGihsa:6911.
UCSCiuc002dwk.1. human.
uc010veh.2. human. [O95947-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS10670.1. [O95947-1 ]
RefSeqi NP_004599.2. NM_004608.3. [O95947-1 ]
XP_005255580.1. XM_005255523.1. [O95947-1 ]
UniGenei Hs.198301.

3D structure databases

ProteinModelPortali O95947.
SMRi O95947. Positions 90-272.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112774. 1 interaction.
IntActi O95947. 2 interactions.
MINTi MINT-6772404.
STRINGi 9606.ENSP00000279386.

PTM databases

PhosphoSitei O95947.

Proteomic databases

PaxDbi O95947.
PRIDEi O95947.

Protocols and materials databases

DNASUi 6911.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000279386 ; ENSP00000279386 ; ENSG00000149922 .
ENST00000395224 ; ENSP00000378650 ; ENSG00000149922 .
ENST00000553607 ; ENSP00000461223 ; ENSG00000149922 .
GeneIDi 6911.
KEGGi hsa:6911.
UCSCi uc002dwk.1. human.
uc010veh.2. human. [O95947-1 ]

Organism-specific databases

CTDi 6911.
GeneCardsi GC16M030097.
HGNCi HGNC:11605. TBX6.
MIMi 122600. phenotype.
602427. gene.
neXtProti NX_O95947.
Orphaneti 1797. Autosomal dominant spondylocostal dysostosis.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
2578. MURCS association.
PharmGKBi PA36368.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240293.
HOGENOMi HOG000286000.
HOVERGENi HBG101171.
InParanoidi O95947.
KOi K10180.
OMAi FAPHFLQ.
OrthoDBi EOG7JMGDH.
PhylomeDBi O95947.
TreeFami TF106341.

Miscellaneous databases

GenomeRNAii 6911.
NextBioi 13651042.
PROi O95947.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95947.
Bgeei O95947.
CleanExi HS_TBX6.
Genevestigatori O95947.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
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 PR00938. BRACHYURY.
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 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.
    , 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.
    , 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. 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. Cited for: INVOLVEMENT IN SCDO5.

Entry informationi

Entry nameiTBX6_HUMAN
AccessioniPrimary (citable) accession number: O95947
Secondary accession number(s): Q8TAS4, Q9HA44
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 3, 2006
Last modified: September 3, 2014
This is version 133 of the entry and version 2 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 16
    Human chromosome 16: 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

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