TBXT_HUMAN
ID TBXT_HUMAN Reviewed; 435 AA.
AC O15178; E7ERD6; Q4KMP4;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 178.
DE RecName: Full=T-box transcription factor T {ECO:0000305};
DE AltName: Full=Brachyury protein {ECO:0000305};
DE AltName: Full=Protein T;
GN Name=TBXT {ECO:0000312|HGNC:HGNC:11515}; Synonyms=T;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=8963900; DOI=10.1101/gr.6.3.226;
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, cDNA
RT sequence, and assignment to chromosome 6q27.";
RL Genome Res. 6:226-233(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX 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., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., 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., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ASP-177.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
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).
RN [5]
RP INVOLVEMENT IN SUSCEPTIBILITY TO THE DEVELOPMENT OF CHORDOMA.
RX PubMed=19801981; DOI=10.1038/ng.454;
RA Yang X.R., Ng D., Alcorta D.A., Liebsch N.J., Sheridan E., Li S.,
RA Goldstein A.M., Parry D.M., Kelley M.J.;
RT "T (brachyury) gene duplication confers major susceptibility to familial
RT chordoma.";
RL Nat. Genet. 41:1176-1178(2009).
RN [6]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=22611028; DOI=10.1158/1078-0432.ccr-11-3211;
RA Roselli M., Fernando R.I., Guadagni F., Spila A., Alessandroni J.,
RA Palmirotta R., Costarelli L., Litzinger M., Hamilton D., Huang B.,
RA Tucker J., Tsang K.Y., Schlom J., Palena C.;
RT "Brachyury, a driver of the epithelial-mesenchymal transition, is
RT overexpressed in human lung tumors: an opportunity for novel interventions
RT against lung cancer.";
RL Clin. Cancer Res. 18:3868-3879(2012).
RN [7]
RP INVOLVEMENT IN SAVA, VARIANT SAVA ARG-171, CHARACTERIZATION OF SAVA
RP ARG-171, AND SUBCELLULAR LOCATION.
RX PubMed=24253444; DOI=10.1136/jmedgenet-2013-102001;
RA Postma A.V., Alders M., Sylva M., Bilardo C.M., Pajkrt E., van Rijn R.R.,
RA Schulte-Merker S., Bulk S., Stefanovic S., Ilgun A., Barnett P.,
RA Mannens M.M., Moorman A.F., Oostra R.J., van Maarle M.C.;
RT "Mutations in the T (brachyury) gene cause a novel syndrome consisting of
RT sacral agenesis, abnormal ossification of the vertebral bodies and a
RT persistent notochordal canal.";
RL J. Med. Genet. 51:90-97(2014).
RN [8]
RP VARIANT NTD CYS-156.
RX PubMed=30237576; DOI=10.1038/s41436-018-0138-x;
RA Maddirevula S., Alzahrani F., Al-Owain M., Al Muhaizea M.A., Kayyali H.R.,
RA AlHashem A., Rahbeeni Z., Al-Otaibi M., Alzaidan H.I., Balobaid A.,
RA El Khashab H.Y., Bubshait D.K., Faden M., Yamani S.A., Dabbagh O.,
RA Al-Mureikhi M., Jasser A.A., Alsaif H.S., Alluhaydan I., Seidahmed M.Z.,
RA Alabbasi B.H., Almogarri I., Kurdi W., Akleh H., Qari A., Al Tala S.M.,
RA Alhomaidi S., Kentab A.Y., Salih M.A., Chedrawi A., Alameer S., Tabarki B.,
RA Shamseldin H.E., Patel N., Ibrahim N., Abdulwahab F., Samira M., Goljan E.,
RA Abouelhoda M., Meyer B.F., Hashem M., Shaheen R., AlShahwan S.,
RA Alfadhel M., Ben-Omran T., Al-Qattan M.M., Monies D., Alkuraya F.S.;
RT "Autozygome and high throughput confirmation of disease genes candidacy.";
RL Genet. Med. 21:736-742(2019).
CC -!- FUNCTION: Involved in the transcriptional regulation of genes required
CC for mesoderm formation and differentiation. Binds to a palindromic T
CC site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene
CC transcription when bound to such a site.
CC {ECO:0000250|UniProtKB:P20293}.
CC -!- SUBUNIT: Monomer. {ECO:0000250|UniProtKB:P20293}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22611028,
CC ECO:0000269|PubMed:24253444}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O15178-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O15178-2; Sequence=VSP_044795;
CC -!- TISSUE SPECIFICITY: Detected in testis, but not in other, normal
CC tissues. Detected in lung tumors (at protein level).
CC {ECO:0000269|PubMed:22611028, ECO:0000269|PubMed:30237576}.
CC -!- DISEASE: Neural tube defects (NTD) [MIM:182940]: Congenital
CC malformations of the central nervous system and adjacent structures
CC related to defective neural tube closure during the first trimester of
CC pregnancy. Failure of neural tube closure can occur at any level of the
CC embryonic axis. Common NTD forms include anencephaly, myelomeningocele
CC and spina bifida, which result from the failure of fusion in the
CC cranial and spinal region of the neural tube. NTDs have a
CC multifactorial etiology encompassing both genetic and environmental
CC components. {ECO:0000269|PubMed:15449172, ECO:0000269|PubMed:30237576}.
CC Note=Disease susceptibility is associated with variants affecting the
CC gene represented in this entry.
CC -!- DISEASE: Chordoma (CHDM) [MIM:215400]: Rare, clinically malignant
CC tumors derived from notochordal remnants. They occur along the length
CC of the spinal axis, predominantly in the sphenooccipital, vertebral and
CC sacrococcygeal regions. They are characterized by slow growth, local
CC destruction of bone, extension into adjacent soft tissues and rarely,
CC distant metastatic spread. {ECO:0000269|PubMed:19801981}. Note=Disease
CC susceptibility is associated with variants affecting the gene
CC represented in this entry. Susceptibility to development of chordomas
CC is due to a T gene duplication.
CC -!- DISEASE: Sacral agenesis with vertebral anomalies (SAVA) [MIM:615709]:
CC A disorder characterized by abnormalities of the spine, including
CC sacral agenesis, abnormal ossification of all vertebral bodies, and a
CC persistent notochordal canal during development.
CC {ECO:0000269|PubMed:24253444}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AJ001699; CAA04938.1; -; mRNA.
DR EMBL; AL627443; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC098425; AAH98425.1; -; mRNA.
DR CCDS; CCDS5290.1; -. [O15178-1]
DR CCDS; CCDS59045.1; -. [O15178-2]
DR RefSeq; NP_001257413.1; NM_001270484.1. [O15178-2]
DR RefSeq; NP_003172.1; NM_003181.3. [O15178-1]
DR PDB; 5QRF; X-ray; 2.03 A; A=41-211.
DR PDB; 5QRG; X-ray; 1.95 A; A=41-211.
DR PDB; 5QRH; X-ray; 1.81 A; A=41-211.
DR PDB; 5QRI; X-ray; 1.83 A; A=41-211.
DR PDB; 5QRJ; X-ray; 1.81 A; A=41-211.
DR PDB; 5QRK; X-ray; 1.63 A; A=41-211.
DR PDB; 5QRL; X-ray; 1.76 A; A=41-211.
DR PDB; 5QRM; X-ray; 1.55 A; A=41-211.
DR PDB; 5QRN; X-ray; 1.62 A; A=41-211.
DR PDB; 5QRO; X-ray; 1.61 A; A=41-211.
DR PDB; 5QRP; X-ray; 1.67 A; A=41-211.
DR PDB; 5QRQ; X-ray; 2.10 A; A=41-211.
DR PDB; 5QRR; X-ray; 1.69 A; A=41-211.
DR PDB; 5QRS; X-ray; 2.06 A; A=41-211.
DR PDB; 5QRT; X-ray; 1.77 A; A=41-211.
DR PDB; 5QRU; X-ray; 1.76 A; A=41-211.
DR PDB; 5QRV; X-ray; 1.67 A; A=41-211.
DR PDB; 5QRW; X-ray; 1.74 A; A=41-211.
DR PDB; 5QRX; X-ray; 1.87 A; A=41-211.
DR PDB; 5QRY; X-ray; 1.58 A; A=41-211.
DR PDB; 5QRZ; X-ray; 1.96 A; A=41-211.
DR PDB; 5QS0; X-ray; 1.60 A; A=41-211.
DR PDB; 5QS1; X-ray; 1.66 A; A=41-211.
DR PDB; 5QS2; X-ray; 1.68 A; A=41-211.
DR PDB; 5QS3; X-ray; 1.71 A; A=41-211.
DR PDB; 5QS4; X-ray; 1.65 A; A=41-211.
DR PDB; 5QS5; X-ray; 1.81 A; A=41-211.
DR PDB; 5QS6; X-ray; 1.67 A; A=41-211.
DR PDB; 5QS7; X-ray; 1.66 A; A=41-211.
DR PDB; 5QS8; X-ray; 1.47 A; A=41-211.
DR PDB; 5QS9; X-ray; 1.43 A; A=41-211.
DR PDB; 5QSA; X-ray; 1.55 A; A=41-211.
DR PDB; 5QSB; X-ray; 1.82 A; A=41-211.
DR PDB; 5QSC; X-ray; 1.62 A; A=41-211.
DR PDB; 5QSD; X-ray; 1.87 A; A=41-211.
DR PDB; 5QSE; X-ray; 2.01 A; A=41-211.
DR PDB; 5QSF; X-ray; 1.96 A; A=41-211.
DR PDB; 5QSG; X-ray; 1.87 A; A=41-211.
DR PDB; 5QSH; X-ray; 1.90 A; A=41-211.
DR PDB; 5QSI; X-ray; 1.64 A; A=41-211.
DR PDB; 5QSJ; X-ray; 1.49 A; A=41-211.
DR PDB; 5QSK; X-ray; 1.55 A; A=41-211.
DR PDB; 5QSL; X-ray; 2.20 A; A=41-211.
DR PDB; 5QT0; X-ray; 2.10 A; A=41-211.
DR PDB; 6F58; X-ray; 2.25 A; A/B=40-224.
DR PDB; 6F59; X-ray; 2.15 A; A/B=41-224.
DR PDB; 6ZU8; X-ray; 1.95 A; A=41-224.
DR PDBsum; 5QRF; -.
DR PDBsum; 5QRG; -.
DR PDBsum; 5QRH; -.
DR PDBsum; 5QRI; -.
DR PDBsum; 5QRJ; -.
DR PDBsum; 5QRK; -.
DR PDBsum; 5QRL; -.
DR PDBsum; 5QRM; -.
DR PDBsum; 5QRN; -.
DR PDBsum; 5QRO; -.
DR PDBsum; 5QRP; -.
DR PDBsum; 5QRQ; -.
DR PDBsum; 5QRR; -.
DR PDBsum; 5QRS; -.
DR PDBsum; 5QRT; -.
DR PDBsum; 5QRU; -.
DR PDBsum; 5QRV; -.
DR PDBsum; 5QRW; -.
DR PDBsum; 5QRX; -.
DR PDBsum; 5QRY; -.
DR PDBsum; 5QRZ; -.
DR PDBsum; 5QS0; -.
DR PDBsum; 5QS1; -.
DR PDBsum; 5QS2; -.
DR PDBsum; 5QS3; -.
DR PDBsum; 5QS4; -.
DR PDBsum; 5QS5; -.
DR PDBsum; 5QS6; -.
DR PDBsum; 5QS7; -.
DR PDBsum; 5QS8; -.
DR PDBsum; 5QS9; -.
DR PDBsum; 5QSA; -.
DR PDBsum; 5QSB; -.
DR PDBsum; 5QSC; -.
DR PDBsum; 5QSD; -.
DR PDBsum; 5QSE; -.
DR PDBsum; 5QSF; -.
DR PDBsum; 5QSG; -.
DR PDBsum; 5QSH; -.
DR PDBsum; 5QSI; -.
DR PDBsum; 5QSJ; -.
DR PDBsum; 5QSK; -.
DR PDBsum; 5QSL; -.
DR PDBsum; 5QT0; -.
DR PDBsum; 6F58; -.
DR PDBsum; 6F59; -.
DR PDBsum; 6ZU8; -.
DR AlphaFoldDB; O15178; -.
DR SMR; O15178; -.
DR BioGRID; 112726; 115.
DR ELM; O15178; -.
DR IntAct; O15178; 116.
DR STRING; 9606.ENSP00000296946; -.
DR GlyGen; O15178; 4 sites, 1 O-linked glycan (4 sites).
DR iPTMnet; O15178; -.
DR PhosphoSitePlus; O15178; -.
DR BioMuta; T; -.
DR EPD; O15178; -.
DR MassIVE; O15178; -.
DR PaxDb; O15178; -.
DR PeptideAtlas; O15178; -.
DR PRIDE; O15178; -.
DR ProteomicsDB; 17762; -.
DR ProteomicsDB; 48496; -. [O15178-1]
DR Antibodypedia; 925; 473 antibodies from 35 providers.
DR DNASU; 6862; -.
DR Ensembl; ENST00000296946.6; ENSP00000296946.2; ENSG00000164458.10. [O15178-1]
DR Ensembl; ENST00000366871.7; ENSP00000355836.3; ENSG00000164458.10. [O15178-2]
DR GeneID; 6862; -.
DR KEGG; hsa:6862; -.
DR UCSC; uc003quu.4; human. [O15178-1]
DR CTD; 6862; -.
DR DisGeNET; 6862; -.
DR GeneCards; TBXT; -.
DR HGNC; HGNC:11515; TBXT.
DR HPA; ENSG00000164458; Group enriched (parathyroid gland, pituitary gland).
DR MalaCards; TBXT; -.
DR MIM; 182940; phenotype.
DR MIM; 215400; phenotype.
DR MIM; 601397; gene.
DR MIM; 615709; phenotype.
DR neXtProt; NX_O15178; -.
DR OpenTargets; ENSG00000164458; -.
DR Orphanet; 268392; Cervical spina bifida aperta.
DR Orphanet; 268762; Cervical spina bifida cystica.
DR Orphanet; 268397; Cervicothoracic spina bifida aperta.
DR Orphanet; 268766; Cervicothoracic spina bifida cystica.
DR Orphanet; 178; Chordoma.
DR Orphanet; 268388; Lumbosacral spina bifida aperta.
DR Orphanet; 268758; Lumbosacral spina bifida cystica.
DR Orphanet; 397927; Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
DR Orphanet; 268384; Thoracolumbosacral spina bifida aperta.
DR Orphanet; 268752; Thoracolumbosacral spina bifida cystica.
DR Orphanet; 268377; Total spina bifida aperta.
DR Orphanet; 268748; Total spina bifida cystica.
DR Orphanet; 268740; Upper thoracic spina bifida aperta.
DR Orphanet; 268770; Upper thoracic spina bifida cystica.
DR PharmGKB; PA36296; -.
DR VEuPathDB; HostDB:ENSG00000164458; -.
DR eggNOG; KOG3585; Eukaryota.
DR GeneTree; ENSGT00940000157912; -.
DR InParanoid; O15178; -.
DR OrthoDB; 1201455at2759; -.
DR PhylomeDB; O15178; -.
DR TreeFam; TF106341; -.
DR PathwayCommons; O15178; -.
DR SignaLink; O15178; -.
DR SIGNOR; O15178; -.
DR BioGRID-ORCS; 6862; 12 hits in 1090 CRISPR screens.
DR GeneWiki; Brachyury; -.
DR GenomeRNAi; 6862; -.
DR Pharos; O15178; Tbio.
DR PRO; PR:O15178; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; O15178; protein.
DR Bgee; ENSG00000164458; Expressed in oocyte and 37 other tissues.
DR ExpressionAtlas; O15178; baseline and differential.
DR Genevisible; O15178; HS.
DR GO; GO:0000785; C:chromatin; IDA:BHF-UCL.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:BHF-UCL.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:BHF-UCL.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0008595; P:anterior/posterior axis specification, embryo; TAS:ProtInc.
DR GO; GO:0060379; P:cardiac muscle cell myoblast differentiation; IDA:BHF-UCL.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0003007; P:heart morphogenesis; IDA:BHF-UCL.
DR GO; GO:0007498; P:mesoderm development; TAS:ProtInc.
DR GO; GO:0001707; P:mesoderm formation; IBA:GO_Central.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; ISS:BHF-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
DR GO; GO:0090009; P:primitive streak formation; NAS:BHF-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; NAS:ProtInc.
DR GO; GO:0001756; P:somitogenesis; IBA:GO_Central.
DR CDD; cd00182; TBOX; 1.
DR Gene3D; 2.60.40.820; -; 1.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR046360; T-box_DNA-bd.
DR InterPro; IPR036960; T-box_sf.
DR InterPro; IPR002070; TF_Brachyury.
DR InterPro; IPR001699; TF_T-box.
DR InterPro; IPR018186; TF_T-box_CS.
DR PANTHER; PTHR11267; PTHR11267; 1.
DR Pfam; PF00907; T-box; 1.
DR PRINTS; PR00938; BRACHYURY.
DR PRINTS; PR00937; TBOX.
DR SMART; SM00425; TBOX; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS01283; TBOX_1; 1.
DR PROSITE; PS01264; TBOX_2; 1.
DR PROSITE; PS50252; TBOX_3; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Activator; Alternative splicing; Developmental protein;
KW Disease variant; DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..435
FT /note="T-box transcription factor T"
FT /id="PRO_0000184414"
FT DNA_BIND 51..219
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 279..308
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 285..308
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 244..302
FT /note="WGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYA
FT HRNNSPT -> S (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044795"
FT VARIANT 156
FT /note="G -> C (in NTD; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:30237576"
FT /id="VAR_082154"
FT VARIANT 171
FT /note="H -> R (in SAVA; reduced DNA binding activity;
FT increased cell growth; altered expression of genes involved
FT in ossification and notochord maintenance;
FT dbSNP:rs587777303)"
FT /evidence="ECO:0000269|PubMed:24253444"
FT /id="VAR_071251"
FT VARIANT 177
FT /note="G -> D (in dbSNP:rs2305089)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_021982"
FT VARIANT 356
FT /note="G -> S (in dbSNP:rs3127328)"
FT /id="VAR_024656"
FT VARIANT 358
FT /note="V -> I (in dbSNP:rs77703807)"
FT /id="VAR_063239"
FT VARIANT 367
FT /note="V -> M (in dbSNP:rs35292451)"
FT /id="VAR_032457"
FT VARIANT 369
FT /note="N -> S (in dbSNP:rs3816300)"
FT /id="VAR_020250"
FT VARIANT 402
FT /note="E -> K (in dbSNP:rs34517945)"
FT /id="VAR_032458"
FT STRAND 43..46
FT /evidence="ECO:0007829|PDB:5QS9"
FT HELIX 49..58
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 61..63
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 65..67
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 76..82
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 86..96
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 99..105
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 108..114
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 130..132
FT /evidence="ECO:0007829|PDB:5QS9"
FT HELIX 133..138
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 147..151
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 154..159
FT /evidence="ECO:0007829|PDB:5QRM"
FT STRAND 165..174
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 176..178
FT /evidence="ECO:0007829|PDB:5QRJ"
FT STRAND 182..186
FT /evidence="ECO:0007829|PDB:5QS9"
FT HELIX 188..190
FT /evidence="ECO:0007829|PDB:5QS9"
FT STRAND 192..197
FT /evidence="ECO:0007829|PDB:5QS9"
FT HELIX 201..210
FT /evidence="ECO:0007829|PDB:5QS9"
FT HELIX 212..216
FT /evidence="ECO:0007829|PDB:6ZU8"
FT HELIX 218..222
FT /evidence="ECO:0007829|PDB:6F58"
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
