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Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_080646.1, 18104949
Length 1482 bp
Structure linear
Update Date 18-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA.
Product T-box transcription factor TBX1 isoform A
Comment

Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (A) contains an alternate exon 9 compared to variant C, resulting in an isoform (A) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms B and C.

RefSeq NP_542377.1
CDS 130..1326
Misc Feature(1)454..1026
Misc Feature(2)454..1026
Misc Feature(3)order(520..522,526..543,547..549,634..636,790..792,
Misc Feature(4)order(592..594,727..735,865..867)
Exon (1)1..43
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (2)44..163
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (3)164..539
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (4)540..641
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (5)642..813
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (6)814..969
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (7)970..1037
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (8)1038..1138
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Exon (9)1139..1465
Gene:TBX1
Gene Synonym:CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Translation MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
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Position Chain Variation Link
3+dbSNP:
3+g, tdbSNP:72646938
45+dbSNP:
45+c, gdbSNP:737868
91+c, tdbSNP:72646950
127+a, gdbSNP:41298786
151+a, gdbSNP:28649236
204+dbSNP:
204+g, tdbSNP:72646952
425+a, cdbSNP:143602782
426+a, gdbSNP:72646953
450+a, gdbSNP:148928907
549+dbSNP:
549+c, tdbSNP:41298814
572+a, tdbSNP:28939675
573+c, tdbSNP:139776757
576+c, tdbSNP:142182296
591+c, tdbSNP:41298816
621+a, gdbSNP:111754814
660+dbSNP:
660+c, tdbSNP:200036203
696+a, gdbSNP:138724943
711+c, gdbSNP:74315522
729+g, tdbSNP:201107301
759+a, cdbSNP:141186024
762+a, gdbSNP:150320937
793+c, tdbSNP:2301558
807+c, tdbSNP:149453540
813+c, tdbSNP:200021644
855+dbSNP:
855+c, tdbSNP:201412495
925+a, gdbSNP:144848597
942+c, tdbSNP:61730282
943+g, tdbSNP:190302733
1015+dbSNP:
1015+a, cdbSNP:142958165
1017+c, gdbSNP:146109202
1056+dbSNP:
1056+c, tdbSNP:201607803
1057+a, gdbSNP:41298838
1062+a, gdbSNP:41298840
1148+dbSNP:
1148+a, tdbSNP:140123922
1178+c, tdbSNP:4819522
1191+a, gdbSNP:200318249
1193+c, gdbSNP:150417730
1199+a, gdbSNP:139273521
1205+c, tdbSNP:200361367
1223+c, tdbSNP:149975157
1224+a, gdbSNP:147647675
1284+a, gdbSNP:140564310
1292+c, tdbSNP:144421657
1304+c, tdbSNP:147834990
1306+a, gdbSNP:5993826
1316+a, gdbSNP:207477905
1337+c, tdbSNP:72646973
1350+c, gdbSNP:41298008
1362+a, gdbSNP:200575065
1383+c, gdbSNP:41298010
1447+g, tdbSNP:5746826
Gene SymbolTBX1
Gene SynonymCAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Chromosome22
Locus Map22q11.21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005992 Homo sapiens T-box 1 (TBX1), transcript variant B, mRNA. On-demand TBD TBD
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. On-demand TBD TBD
NM_080647 Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA. On-demand TBD TBD
Title Genetic analysis of the TBX1 gene promoter in ventricular septal defects .
Author Wang,H., Chen,D., Ma,L., Meng,H., Liu,Y., Xie,W., Pang,S. and Yan,B.
Journal Mol. Cell. Biochem. 370 (1-2), 53-58 (2012)
Title Phenotypic variability of atypical 22q11.2 deletions not including TBX1 .
Author Verhagen,J.M., Diderich,K.E., Oudesluijs,G., Mancini,G.M., Eggink,A.J., Verkleij-Hagoort,A.C., Groenenberg,I.A., Willems,P.J., du Plessis,F.A., de Man,S.A., Srebniak,M.I., van Opstal,D., Hulsman,L.O., van Zutven,L.J. and Wessels,M.W.
Journal Am. J. Med. Genet. A 158A (10), 2412-2420 (2012)
Title Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients .
Author Guo,T., McDonald-McGinn,D., Blonska,A., Shanske,A., Bassett,A.S., Chow,E., Bowser,M., Sheridan,M., Beemer,F., Devriendt,K., Swillen,A., Breckpot,J., Digilio,M.C., Marino,B., Dallapiccola,B., Carpenter,C., Zheng,X., Johnson,J., Chung,J., Higgins,A.M., Philip,N., Simon,T.J., Coleman,K., Heine-Suner,D., Rosell,J., Kates,W., Devoto,M., Goldmuntz,E., Zackai,E., Wang,T., Shprintzen,R., Emanuel,B. and Morrow,B.
Journal Hum. Mutat. 32 (11), 1278-1289 (2011)
Title Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus .
Author Xu,Y.J., Wang,J., Xu,R., Zhao,P.J., Wang,X.K., Sun,H.J., Bao,L.M., Shen,J., Fu,Q.H., Li,F. and Sun,K.
Journal BMC Med. Genet. 12, 169 (2011)
Title Brachyury and related Tbx proteins interact with the Mixl1 homeodomain protein and negatively regulate Mixl1 transcriptional activity .
Author Pereira,L.A., Wong,M.S., Lim,S.M., Sides,A., Stanley,E.G. and Elefanty,A.G.
Journal PLoS ONE 6 (12), E28394 (2011)
Title Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer .
Author Yamagishi,H., Maeda,J., Hu,T., McAnally,J., Conway,S.J., Kume,T., Meyers,E.N., Yamagishi,C. and Srivastava,D.
Journal Genes Dev. 17 (2), 269-281 (2003)
Title Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects .
Author Gong,W., Gottlieb,S., Collins,J., Blescia,A., Dietz,H., Goldmuntz,E., McDonald-McGinn,D.M., Zackai,E.H., Emanuel,B.S., Driscoll,D.A. and Budarf,M.L.
Journal J. Med. Genet. 38 (12), E45 (2001)
Title Developing models of DiGeorge syndrome .
Author Epstein,J.A.
Journal Trends Genet. 17 (10), S13-S17 (2001)
Title Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2 .
Author Sinha,S., Abraham,S., Gronostajski,R.M. and Campbell,C.E.
Journal Gene 258 (1-2), 15-29 (2000)
Title Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene .
Author Chieffo,C., Garvey,N., Gong,W., Roe,B., Zhang,G., Silver,L., Emanuel,B.S. and Budarf,M.L.
Journal Genomics 43 (3), 267-277 (1997)


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