O15178 (BRAC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Brachyury protein

Alternative name(s):
Protein T

Gene names

Name:

T

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	435 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site.
Subunit structure	Monomer By similarity.
Subcellular location	Nucleus.
Involvement in disease	Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.4 Chordoma (CHDM) [MIM:215400]: Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to development of chordomas is due to a T gene duplication.
Sequence similarities	Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Inferred from electronic annotation. Source: Compara SMAD protein signal transduction Inferred from electronic annotation. Source: Compara anterior/posterior axis specification, embryo Traceable author statement Ref.1. Source: ProtInc bone morphogenesis Inferred from electronic annotation. Source: Compara canonical Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara cardiac muscle cell differentiation Inferred from electronic annotation. Source: Compara determination of heart left/right asymmetry Inferred from electronic annotation. Source: Compara embryonic skeletal system development Inferred from electronic annotation. Source: Compara heart morphogenesis Inferred from direct assay PubMed 21632880. Source: BHF-UCL mesoderm development Traceable author statement Ref.1. Source: ProtInc mesoderm migration involved in gastrulation Inferred from electronic annotation. Source: Compara neural plate morphogenesis Inferred from electronic annotation. Source: Compara neural tube closure Inferred from electronic annotation. Source: Compara notochord formation Inferred from electronic annotation. Source: Compara penetration of zona pellucida Inferred from electronic annotation. Source: Compara positive regulation of cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation Inferred from direct assay PubMed 21632880. Source: BHF-UCL post-anal tail morphogenesis Inferred from electronic annotation. Source: Compara primitive streak formation Non-traceable author statement PubMed 18593560. Source: BHF-UCL signal transduction Non-traceable author statement Ref.1. Source: ProtInc signal transduction involved in regulation of gene expression Inferred from electronic annotation. Source: Compara somitogenesis Inferred from electronic annotation. Source: Compara vasculogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara nuclear chromatin Inferred from direct assay PubMed 21632880. Source: BHF-UCL
Molecular_function	RNA polymerase II core promoter proximal region sequence-specific DNA binding Inferred from sequence or structural similarity. Source: BHF-UCL RNA polymerase II distal enhancer sequence-specific DNA binding Inferred from direct assay PubMed 21632880. Source: BHF-UCL RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Inferred from direct assay PubMed 21632880. 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
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O15178-1)

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: O15178-2)

The sequence of this isoform differs from the canonical sequence as follows:
     244-302: WGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNSPT → S

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 435	435	Brachyury protein		PRO_0000184414
Regions
	DNA binding	51 – 219	169	T-box
Natural variations
	Alternative sequence	244 – 302	59	WGWLL…NNSPT → S in isoform 2.		VSP_044795
	Natural variant	177	1	G → D. Ref.3 Corresponds to variant rs2305089 [ dbSNP | Ensembl ].		VAR_021982
	Natural variant	356	1	G → S. Corresponds to variant rs3127328 [ dbSNP | Ensembl ].		VAR_024656
	Natural variant	358	1	V → I. Corresponds to variant rs77703807 [ dbSNP | Ensembl ].		VAR_063239
	Natural variant	367	1	V → M. Corresponds to variant rs35292451 [ dbSNP | Ensembl ].		VAR_032457
	Natural variant	369	1	N → S. Corresponds to variant rs3816300 [ dbSNP | Ensembl ].		VAR_020250
	Natural variant	402	1	E → K. Corresponds to variant rs34517945 [ dbSNP | Ensembl ].		VAR_032458

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 9D470088C8602631	FASTA	435	47,443
	10 20 30 40 50 60 MSSPGTESAG KSLQYRVDHL LSAVENELQA GSEKGDPTER ELRVGLEESE LWLRFKELTN 70 80 90 100 110 120 EMIVTKNGRR MFPVLKVNVS GLDPNAMYSF LLDFVAADNH RWKYVNGEWV PGGKPEPQAP 130 140 150 160 170 180 SCVYIHPDSP NFGAHWMKAP VSFSKVKLTN KLNGGGQIML NSLHKYEPRI HIVRVGGPQR 190 200 210 220 230 240 MITSHCFPET QFIAVTAYQN EEITALKIKY NPFAKAFLDA KERSDHKEMM EEPGDSQQPG 250 260 270 280 290 300 YSQWGWLLPG TSTLCPPANP HPQFGGALSL PSTHSCDRYP TLRSHRSSPY PSPYAHRNNS 310 320 330 340 350 360 PTYSDNSPAC LSMLQSHDNW SSLGMPAHPS MLPVSHNASP PTSSSQYPSL WSVSNGAVTP 370 380 390 400 410 420 GSQAAAVSNG LGAQFFRGSP AHYTPLTHPV SAPSSSGSPL YEGAAAATDI VDSQYDAAAQ 430 GRLIASWTPV SPPSM
	Isoform 2 [UniParc]. Checksum: 28A89725810C9002	FASTA	377	41,078
	10 20 30 40 50 60 MSSPGTESAG KSLQYRVDHL LSAVENELQA GSEKGDPTER ELRVGLEESE LWLRFKELTN 70 80 90 100 110 120 EMIVTKNGRR MFPVLKVNVS GLDPNAMYSF LLDFVAADNH RWKYVNGEWV PGGKPEPQAP 130 140 150 160 170 180 SCVYIHPDSP NFGAHWMKAP VSFSKVKLTN KLNGGGQIML NSLHKYEPRI HIVRVGGPQR 190 200 210 220 230 240 MITSHCFPET QFIAVTAYQN EEITALKIKY NPFAKAFLDA KERSDHKEMM EEPGDSQQPG 250 260 270 280 290 300 YSQSYSDNSP ACLSMLQSHD NWSSLGMPAH PSMLPVSHNA SPPTSSSQYP SLWSVSNGAV 310 320 330 340 350 360 TPGSQAAAVS NGLGAQFFRG SPAHYTPLTH PVSAPSSSGS PLYEGAAAAT DIVDSQYDAA 370 AQGRLIASWT PVSPPSM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27." Edwards Y.H., Putt W., Lekoape K.M., Stott D., Fox M., Hopkinson D.A., Sowden J. Genome Res. 6:226-233(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"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].
[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] (ISOFORM 2), VARIANT ASP-177. Tissue: Lung.
[4]	"The human T locus and spina bifida risk." Jensen L.E., Barbaux S., Hoess K., Fraterman S., Whitehead A.S., Mitchell L.E. Hum. Genet. 115:475-482(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO NTD.
[5]	"T (brachyury) gene duplication confers major susceptibility to familial chordoma." Yang X.R., Ng D., Alcorta D.A., Liebsch N.J., Sheridan E., Li S., Goldstein A.M., Parry D.M., Kelley M.J. Nat. Genet. 41:1176-1178(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO THE DEVELOPMENT OF CHORDOMA.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ001699 mRNA. Translation: CAA04938.1. AL627443 Genomic DNA. Translation: CAI14269.1. BC098425 mRNA. Translation: AAH98425.1.
IPI	IPI00005203. IPI00619896.
RefSeq	NP_001257413.1. NM_001270484.1. NP_003172.1. NM_003181.3.
UniGene	Hs.389457. Hs.742027.
3D structure databases
ProteinModelPortal	O15178.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000296946.
PTM databases
PhosphoSite	O15178.
Proteomic databases
PaxDb	O15178.
PRIDE	O15178.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296946; ENSP00000296946; ENSG00000164458. ENST00000366871; ENSP00000355836; ENSG00000164458.
GeneID	6862.
KEGG	hsa:6862.
UCSC	uc003qut.1. human.
Organism-specific databases
CTD	6862.
GeneCards	GC06M166541.
HGNC	HGNC:11515. T.
HPA	HPA003322.
MIM	182940. phenotype. 215400. phenotype. 601397. gene.
neXtProt	NX_O15178.
Orphanet	3027. Caudal regression sequence. 823. Isolated spina bifida.
PharmGKB	PA36296.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG257463.
HOGENOM	HOG000063663.
HOVERGEN	HBG004599.
InParanoid	O15178.
KO	K10172.
OMA	QFFRGSP.
OrthoDB	EOG4FXR7S.
PhylomeDB	O15178.
Gene expression databases
ArrayExpress	O15178.
Bgee	O15178.
CleanEx	HS_T.
Genevestigator	O15178.
GermOnline	ENSG00000164458. 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	6862.
NextBio	26779.
SOURCE	Search...

Entry information

Entry name

BRAC_HUMAN

Accession

Primary (citable) accession number: O15178
Secondary accession number(s): E7ERD6, Q4KMP4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	January 1, 1998
Last modified:	May 1, 2013
This is version 109 of the entry and version 1 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.