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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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	Genetic variations in T are associated with susceptibility to neural tube defects (NTD) [MIM:182940]. NTD are common congenital malformations. Spina bifida, which results from malformations in the caudal region of the neural tube, is compatible with life but associated with significant morbidity, including lower limb paralysis. Ref.3 T is involved in susceptibility to the development of chordoma (CHDM) [MIM:215400]. Chordomas are 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=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	Polymorphism
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	anterior/posterior axis specification, embryo Traceable author statement. Source: ProtInc mesoderm development Traceable author statement. Source: ProtInc primitive streak formation Non-traceable author statement. Source: BHF-UCL transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: ProtInc
Complete GO annotation...

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
	Natural variant	177	1	G → D. 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)
	O15178 [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

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: 8963900] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15449172] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO NTD.
[4]	"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: 19801981] [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.
IPI	IPI00005203.
RefSeq	NP_003172.1. NM_003181.2.
UniGene	Hs.389457.
3D structure databases
ProteinModelPortal	O15178.
SMR	O15178. Positions 41-223.
ModBase	Search...
Protein-protein interaction databases
STRING	O15178.
PTM databases
PhosphoSite	O15178.
Proteomic databases
PRIDE	O15178.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296946; ENSP00000296946; ENSG00000164458. ENST00000366876; ENSP00000355841; ENSG00000164458.
GeneID	6862.
KEGG	hsa:6862.
UCSC	uc003qut.1. human.
Organism-specific databases
CTD	6862.
GeneCards	GC06M166541.
H-InvDB	HIX0032807.
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	prNOG08473.
GeneTree	ENSGT00590000082772.
HOGENOM	HBG402911.
HOVERGEN	HBG004599.
InParanoid	O15178.
OMA	PTYSDNS.
OrthoDB	EOG4FXR7S.
PhylomeDB	O15178.
Gene expression databases
ArrayExpress	O15178.
Bgee	O15178.
CleanEx	HS_T.
Genevestigator	O15178.
GermOnline	ENSG00000164458. Homo sapiens.
Family and domain databases
InterPro	IPR008967. p53-like_TF_DNA-bd. IPR002070. TF_Brachyury. IPR001699. TF_T-box. IPR018186. TF_T-box_CS. [Graphical view]
Gene3D	G3DSA:2.60.40.820. TF_T-box. 1 hit.
KO	K10172.
PANTHER	PTHR11267. TF_T-box. 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
NextBio	26779.
SOURCE	Search...

Entry information

Entry name

BRAC_HUMAN

Accession

Primary (citable) accession number: O15178

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	January 1, 1998
Last modified:	January 25, 2012
This is version 95 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.