O95947 (TBX6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
T-box transcription factor TBX6
Short name=T-box protein 6

Gene names

Name:

TBX6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	436 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Sequence similarities	Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anatomical structure morphogenesis Traceable author statement Ref.4. Source: ProtInc cell fate specification Inferred from electronic annotation. Source: Compara mesoderm development Traceable author statement Ref.1. Source: ProtInc mesoderm formation Inferred from electronic annotation. Source: Compara signal transduction involved in regulation of gene expression Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA 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 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...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 436	436	T-box transcription factor TBX6		PRO_0000184438
Regions
	DNA binding	100 – 273	174	T-box
Natural variations
	Natural variant	162	1	G → S. Corresponds to variant rs56098093 [ dbSNP | Ensembl ].		VAR_061837
	Natural variant	178	1	S → F. Corresponds to variant rs12925839 [ dbSNP | Ensembl ].		VAR_027836
	Natural variant	179	1	P → S. Corresponds to variant rs12925838 [ dbSNP | Ensembl ].		VAR_027837
Experimental info
	Sequence conflict	207	1	H → HV in CAB37938. Ref.4
	Sequence conflict	388 – 389	2	EL → DV in CAA07812. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O95947 [UniParc]. Last modified October 3, 2006. Version 2. Checksum: 649CDFB141B966F4	FASTA	436	47,045
	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

References

	« Hide 'large scale' referencesShow '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].
[2]	"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].
[3]	"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]. Tissue: Brain.
[4]	"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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ007989 mRNA. Translation: CAA07812.1. AC012645 Genomic DNA. No translation available. AC093512 Genomic DNA. No translation available. BC026031 mRNA. Translation: AAH26031.1. AJ010279 Genomic DNA. Translation: CAB37938.1.
IPI	IPI00296043.
RefSeq	NP_004599.2. NM_004608.3.
UniGene	Hs.198301.
3D structure databases
ProteinModelPortal	O95947.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000279386.
PTM databases
PhosphoSite	O95947.
Proteomic databases
PaxDb	O95947.
PRIDE	O95947.
Protocols and materials databases
DNASU	6911.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000279386; ENSP00000279386; ENSG00000149922. ENST00000395224; ENSP00000378650; ENSG00000149922.
GeneID	6911.
KEGG	hsa:6911.
UCSC	uc010veh.2. human.
Organism-specific databases
CTD	6911.
GeneCards	GC16M030097.
HGNC	HGNC:11605. TBX6.
MIM	602427. gene.
neXtProt	NX_O95947.
PharmGKB	PA36368.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240293.
HOGENOM	HOG000286000.
HOVERGEN	HBG101171.
InParanoid	O95947.
KO	K10180.
OMA	FAPHFLQ.
OrthoDB	EOG4W3SN3.
PhylomeDB	O95947.
Gene expression databases
ArrayExpress	O95947.
Bgee	O95947.
CleanEx	HS_TBX6.
Genevestigator	O95947.
GermOnline	ENSG00000149922. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.820. 1 hit.
InterPro	IPR008967. p53-like_TF_DNA-bd. IPR002070. TF_Brachyury. IPR001699. TF_T-box. IPR018186. TF_T-box_CS. [Graphical view]
PANTHER	PTHR11267. PTHR11267. 1 hit.
Pfam	PF00907. T-box. 1 hit. [Graphical view]
PRINTS	PR00938. BRACHYURY. PR00937. TBOX.
SMART	SM00425. TBOX. 1 hit. [Graphical view]
SUPFAM	SSF49417. P53_like_DNA_bnd. 1 hit.
PROSITE	PS01283. TBOX_1. 1 hit. PS01264. TBOX_2. 1 hit. PS50252. TBOX_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6911.
NextBio	27033.
SOURCE	Search...

Entry information

Entry name

TBX6_HUMAN

Accession

Primary (citable) accession number: O95947
Secondary accession number(s): Q8TAS4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	October 3, 2006
Last modified:	May 1, 2013
This is version 120 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.