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Reviewed, UniProtKB/Swiss-Prot O15178 (BRAC_HUMAN)

Last modified June 16, 2009. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Brachyury protein
      Short name=T protein
Gene names
Name: T
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length435 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

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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

Sequence similarities

Contains 1 T-box DNA-binding domain.

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Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
Gene Ontology (GO)
   Biological processdetermination of anterior/posterior axis, embryo Ref.1

Traceable author statement. Source: ProtInc

mesoderm development Ref.1

Traceable author statement. Source: ProtInc

signal transduction Ref.1

Non-traceable author statement. Source: ProtInc

transcription

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functiontranscription factor activity Ref.1

Non-traceable author statement. Source: ProtInc

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 435435Brachyury protein
PRO_0000184414

Regions

DNA binding51 – 219169T-box

Natural variations

Natural variant1771G → D: dbSNP rs2305089.
VAR_021982
Natural variant3561G → S: dbSNP rs3127328.
VAR_024656
Natural variant3671V → M: dbSNP rs35292451.
VAR_032457
Natural variant3691N → S: dbSNP rs3816300.
VAR_020250
Natural variant4021E → K: dbSNP rs34517945.
VAR_032458

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Sequences

Sequence LengthMass (Da)Tools
O15178-1 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 9D470088C8602631

FASTA43547,443
        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

« Hide

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References

« Hide '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. expand/collapse author list , 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.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AJ001699 mRNA. Translation: CAA04938.1.
AL627443 Genomic DNA. Translation: CAI14269.1.
IPIIPI00005203.
RefSeqNP_003172.1.
UniGeneHs.389457

3D structure databases

HSSPHSSP built from PDB template 1XBR based on UniProtKB P24781.
SMRO15178. Positions 41-224.
ModBaseSearch...

Proteomic databases

PRIDEO15178.

Genome annotation databases

EnsemblENSG00000164458. Homo sapiens. [Contig view]
GeneID6862.
KEGGhsa:6862.

Organism-specific databases

GeneCardsGC06M166541.
H-InvDBHIX0032807.
HGNCHGNC:11515. T.
HPAHPA003322.
MIM182940. phenotype.
601397. gene.
Orphanet3027. Caudal regression sequence.
3388. Neural tube defect.
823. Spina bifida.
PharmGKBPA24359.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO15178.
HOVERGENO15178.
OMAO15178. IASWTPV.

Gene expression databases

ArrayExpressO15178.
BgeeO15178.
CleanExHS_T.
GermOnlineENSG00000164458. Homo sapiens.

Family and domain databases

InterProIPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
Gene3DG3DSA:2.60.40.820. TF_T-box. 1 hit.
PANTHERPTHR11267. TF_T-box. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00938. BRACHYURY.
PR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio26779.
SOURCESearch...

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Entry information

Entry nameBRAC_HUMAN
AccessionPrimary (citable) accession number: O15178
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: June 16, 2009
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents