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Gene Model: Brac

NomenclatureGenomic Location
SymbolBracChromosome1
NameBrachyuryLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 87 Mbp

Molecular 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.

Molecular Function Terms:

binding
   nucleic acid binding
      DNA binding
         sequence-specific DNA binding
   protein binding

nucleic acid binding transcription factor activity
   sequence-specific DNA binding transcription factor activity

Human Disease Association

Genetic variations in brachyury protein 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.

Brachyury protein 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 brachyury gene duplication.

Predicted Transcript
     1 ACGCCGAGCCCCGACAGCGCCGGCAAGAGCCTGCAGTACCGGGTGGACCACCTGCTGAGC
    61 GCCGTGGAAAACGAGCTGCAGGCGGGCAGCGAGAAGGGGGACCCCACGGAGCGGGAGCTG
   121 CGCGTCAGCCTGGAGGACGGAGAGCTGTGGCTCCGCTTTAAGGAGCTCACCAACGAGATG
   181 ATCGTCACCAAGAACGGCAGGCGCATGTTCCCGGTGCTGAAGGCCAGTGTCTCCGGGCTG
   241 GACCCCAACGCCATGTACTCCTTCCTGCTGGACTTCGTGGCGGCCGACAACCACCGCTGG
   301 AAGTACGTGAACGGGGAGTGGGTGCCGGGGGGCAAGCCCGAGCCCCAGGCCCCCAGCTGC
   361 GTCTACATCCACCCGGACTCGCCCAACTTCGGCGCCCACTGGATGAAGGCGCCCGTCTCC
   421 TTCAGCAAGGTCAAGCTCACCAACAAGCTCAACGGAGGCGGACAGATTATGTTGAACTCT
   481 TTGCACAAATATGAACCTAGGATTCATATAGTGAGAGTTGGTGGTCCTCAGCGGATGATC
   541 ACCAGCCATTCCTTCCCAGAGACCCAATTTATAGCTGTGACAGCTTACCAAAATGAGGAG
   601 ATAACAGCTTTAAAAATTAAGTACAACCCCTTTGCAAAAGCGTTTCTTGATGCAAAAGAA
   661 AGAAGTGATCACAAAGACATGATGGATGAAGTGGGAGAAGGCCAGCAGCCGGGGTATTCA
   721 CAATTAGGTGGTTGGCTGATTCCTGGAACAGGGACTCTGTGTCCTCCTACCAATCCTCAC
   781 TCACAATTTGGAGCACCTCTGTCACTGCCCTCTGCTCACAGTTGTGAAAGATATTCATCT
   841 CTGAGGAATCATCGCTCAGCTCCTTATCCAAATCCATACACTCACAGAACCAGTTCTCCA
   901 ACTGCTTATGGGGACAGCTCTTCAGCTTGCCTTTCTATGCTTCAGCCACATGACAATTGG
   961 TCCAGTCTGGGAGTCCCACCGCCAACAAGTATGTTGCCTATGAGTCATAGTACTGGTCCT
  1021 CCAACCAGCTCCAGCCAGTATCCCAATTTGTGGTCTGTGAGCAACAGCACCATCTCACCA
  1081 GTGTCACAAACAAGTGGGGTATCCAGTGGGATAGGAACCCAGTTTTTGCGAGGCTCAGCA
  1141 ACCCATTACCCTGCCCTTTCTCATTCAGTAACTTCTGCTTCCTCAGGATCTCCATTATAT
  1201 GACAGTGGGACACCAACAGACATTGCCGATGGCCAGTATGATGCCTCAGTGCATGCTAGA
  1261 CTTGCTTCCACATGGACACCTGTCACAACTCCTTCTATGTAG

Predicted Protein Product
TPSPDSAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVSLEDGELWLRFKELTNEM
IVTKNGRRMFPVLKASVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSC
VYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMI
TSHSFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKDMMDEVGEGQQPGYS
QLGGWLIPGTGTLCPPTNPHSQFGAPLSLPSAHSCERYSSLRNHRSAPYPNPYTHRTSSP
TAYGDSSSACLSMLQPHDNWSSLGVPPPTSMLPMSHSTGPPTSSSQYPNLWSVSNSTISP
VSQTSGVSSGIGTQFLRGSATHYPALSHSVTSASSGSPLYDSGTPTDIADGQYDASVHAR
LASTWTPVTTPSM
Protein Alignment to Mouse
sp|P20293|BRAC_MOUSE Brachyury protein OS=Mus musculus GN=T PE=1 SV=1
      MGI:98472 T brachyury (Chr 17)
        Length = 436

 Score = 1886 (669.0 bits), Expect = 2.0e-195, P = 2.0e-195
 Identities = 353/437 (80%), Positives = 385/437 (88%)

Query:     1 TPSPDSAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVSLEDGELWLRFKELTNEM 60
             +P  +SAGKSLQYRVDHLLSAVE+ELQAGSEKGDPTERELRV LE+ ELWLRFKELTNEM
Sbjct:     3 SPGTESAGKSLQYRVDHLLSAVESELQAGSEKGDPTERELRVGLEESELWLRFKELTNEM 62

Query:    61 IVTKNGRRMFPVLKASVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSC 120
             IVTKNGRRMFPVLK +VSGLDPNAMYSFLLDFV ADNHRWKYVNGEWVPGGKPEPQAPSC
Sbjct:    63 IVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVTADNHRWKYVNGEWVPGGKPEPQAPSC 122

Query:   121 VYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMI 180
             VYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMI
Sbjct:   123 VYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMI 182

Query:   181 TSHSFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKDMMDEVGEGQQPGYS 240
             TSH FPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKER+DHKD+M+E G+ QQPGYS
Sbjct:   183 TSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERNDHKDVMEEPGDCQQPGYS 242

Query:   241 QLGGWLIPGTGTLCPPTNPHSQFGAPLSLPSAHSCERYSSLRNHRSAPYPNPYTHRTSSP 300
             Q G WL+PG GTLCPP + H QFG  LSLPS H CERY +LRNHRS+PYP+PY HR SSP
Sbjct:   243 QWG-WLVPGAGTLCPPASSHPQFGGSLSLPSTHGCERYPALRNHRSSPYPSPYAHRNSSP 301

Query:   301 TAYGDSSSACLSMLQPHDNWSSLGVPPPTSMLPMSHSTGPPTSSSQYPNLWSVSNSTISP 360
             T Y D+SSACLSMLQ HDNWSSLGVP  TSMLP+SH+  PPT SSQYP+LWSVSN TI+P
Sbjct:   302 T-YADNSSACLSMLQSHDNWSSLGVPGHTSMLPVSHNASPPTGSSQYPSLWSVSNGTITP 360

Query:   361 VSQTSGVSSGIGTQFLRGSATHYPALSHSV---TSASSGSPLYD-SGTPTDIADGQYDAS 416
              SQT+GVS+G+G QF RGS  HY  L+H+V   TS+SSGSP+Y+ + T TDI+D QYD +
Sbjct:   361 GSQTAGVSNGLGAQFFRGSPAHYTPLTHTVSAATSSSSGSPMYEGAATVTDISDSQYDTA 420

Query:   417 VHARLASTWTPVTTPSM 433
                 +AS WTPV+ PSM
Sbjct:   421 QSLLIAS-WTPVSPPSM 436