ID   BRAC_HUMAN              Reviewed;         435 AA.
AC   O15178;
DT   15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT   01-JAN-1998, sequence version 1.
DT   07-JUL-2009, entry version 72.
DE   RecName: Full=Brachyury protein;
DE            Short=T protein;
GN   Name=T;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=96402060; PubMed=8963900;
RA   Edwards Y.H., Putt W., Lekoape K.M., Stott D., Fox M., Hopkinson D.A.,
RA   Sowden J.;
RT   "The human homolog T of the mouse T(Brachyury) gene; gene structure,
RT   cDNA sequence, and assignment to chromosome 6q27.";
RL   Genome Res. 6:226-233(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22935763; PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA   Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA   Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA   Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA   Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA   Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA   Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA   Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA   Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA   Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA   Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA   Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA   Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA   McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA   Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA   Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA   Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA   Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA   Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA   Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA   Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA   Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA   Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [3]
RP   INVOLVEMENT IN SUSCEPTIBILITY TO NTD.
RX   PubMed=15449172; DOI=10.1007/s00439-004-1185-8;
RA   Jensen L.E., Barbaux S., Hoess K., Fraterman S., Whitehead A.S.,
RA   Mitchell L.E.;
RT   "The human T locus and spina bifida risk.";
RL   Hum. Genet. 115:475-482(2004).
CC   -!- FUNCTION: Involved in the transcriptional regulation of genes
CC       required for mesoderm formation and differentiation. Binds to a
CC       palindromic site (called T site) and activates gene transcription
CC       when bound to such a site.
CC   -!- SUBUNIT: Monomer (By similarity).
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- DISEASE: Genetic variations in T are associated with
CC       susceptibility to neural tube defects (NTD) [MIM:182940]. NTD are
CC       common congenital malformations. Spina bifida, which results from
CC       malformations in the caudal region of the neural tube, is
CC       compatible with life but associated with significant morbidity,
CC       including lower limb paralysis.
CC   -!- SIMILARITY: Contains 1 T-box DNA-binding domain.
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DR   EMBL; AJ001699; CAA04938.1; -; mRNA.
DR   EMBL; AL627443; CAI14269.1; -; Genomic_DNA.
DR   IPI; IPI00005203; -.
DR   RefSeq; NP_003172.1; -.
DR   UniGene; Hs.389457; -.
DR   HSSP; P24781; 1XBR.
DR   SMR; O15178; 41-224.
DR   PRIDE; O15178; -.
DR   Ensembl; ENSG00000164458; Homo sapiens.
DR   GeneID; 6862; -.
DR   KEGG; hsa:6862; -.
DR   UCSC; uc003qut.1; human.
DR   GeneCards; GC06M166541; -.
DR   H-InvDB; HIX0032807; -.
DR   HGNC; HGNC:11515; T.
DR   HPA; HPA003322; -.
DR   MIM; 182940; phenotype.
DR   MIM; 601397; gene.
DR   Orphanet; 3027; Caudal regression sequence.
DR   Orphanet; 3388; Neural tube defect.
DR   Orphanet; 823; Spina bifida.
DR   PharmGKB; PA24359; -.
DR   HOGENOM; O15178; -.
DR   HOVERGEN; O15178; -.
DR   OMA; O15178; IASWTPV.
DR   NextBio; 26779; -.
DR   ArrayExpress; O15178; -.
DR   Bgee; O15178; -.
DR   CleanEx; HS_T; -.
DR   GermOnline; ENSG00000164458; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0003700; F:transcription factor activity; NAS:ProtInc.
DR   GO; GO:0008595; P:determination of anterior/posterior axis, e...; TAS:ProtInc.
DR   GO; GO:0007498; P:mesoderm development; TAS:ProtInc.
DR   GO; GO:0007165; P:signal transduction; NAS:ProtInc.
DR   GO; GO:0006350; P:transcription; IEA:UniProtKB-KW.
DR   InterPro; IPR002070; TF_Brachyury.
DR   InterPro; IPR001699; TF_T-box.
DR   InterPro; IPR018186; TF_T-box_CS.
DR   Gene3D; G3DSA:2.60.40.820; TF_T-box; 1.
DR   PANTHER; PTHR11267; TF_T-box; 1.
DR   Pfam; PF00907; T-box; 1.
DR   PRINTS; PR00938; BRACHYURY.
DR   PRINTS; PR00937; TBOX.
DR   SMART; SM00425; TBOX; 1.
DR   PROSITE; PS01283; TBOX_1; 1.
DR   PROSITE; PS01264; TBOX_2; 1.
DR   PROSITE; PS50252; TBOX_3; 1.
PE   2: Evidence at transcript level;
KW   Activator; Complete proteome; Developmental protein; DNA-binding;
KW   Nucleus; Polymorphism; Transcription; Transcription regulation.
FT   CHAIN         1    435       Brachyury protein.
FT                                /FTId=PRO_0000184414.
FT   DNA_BIND     51    219       T-box.
FT   VARIANT     177    177       G -> D (in dbSNP:rs2305089).
FT                                /FTId=VAR_021982.
FT   VARIANT     356    356       G -> S (in dbSNP:rs3127328).
FT                                /FTId=VAR_024656.
FT   VARIANT     367    367       V -> M (in dbSNP:rs35292451).
FT                                /FTId=VAR_032457.
FT   VARIANT     369    369       N -> S (in dbSNP:rs3816300).
FT                                /FTId=VAR_020250.
FT   VARIANT     402    402       E -> K (in dbSNP:rs34517945).
FT                                /FTId=VAR_032458.
SQ   SEQUENCE   435 AA;  47443 MW;  9D470088C8602631 CRC64;
     MSSPGTESAG KSLQYRVDHL LSAVENELQA GSEKGDPTER ELRVGLEESE LWLRFKELTN
     EMIVTKNGRR MFPVLKVNVS GLDPNAMYSF LLDFVAADNH RWKYVNGEWV PGGKPEPQAP
     SCVYIHPDSP NFGAHWMKAP VSFSKVKLTN KLNGGGQIML NSLHKYEPRI HIVRVGGPQR
     MITSHCFPET QFIAVTAYQN EEITALKIKY NPFAKAFLDA KERSDHKEMM EEPGDSQQPG
     YSQWGWLLPG TSTLCPPANP HPQFGGALSL PSTHSCDRYP TLRSHRSSPY PSPYAHRNNS
     PTYSDNSPAC LSMLQSHDNW SSLGMPAHPS MLPVSHNASP PTSSSQYPSL WSVSNGAVTP
     GSQAAAVSNG LGAQFFRGSP AHYTPLTHPV SAPSSSGSPL YEGAAAATDI VDSQYDAAAQ
     GRLIASWTPV SPPSM
//