• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19962 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu19962C Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_080646.1, 18104949
Length 1197 bp
Structure linear
Update Date 04-MAY-2014
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; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (2)44..163
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (3)164..539
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (4)540..641
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (5)642..813
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (6)814..969
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (7)970..1037
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (8)1038..1138
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Exon (9)1139..1465
Gene:TBX1
Gene Synonym:CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Translation MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
3+dbSNP:
3+g, tdbSNP:72646938
45+dbSNP:
45+c, gdbSNP:737868
91+c, tdbSNP:72646950
94+g, tdbSNP:372793286
127+a, gdbSNP:41298786
135+c, tdbSNP:367692432
151+a, gdbSNP:28649236
204+dbSNP:
204+g, tdbSNP:72646952
425+a, cdbSNP:143602782
426+a, gdbSNP:72646953
432..434+, gaadbSNP:369050575
450+a, gdbSNP:148928907
451+g, tdbSNP:375718057
549+dbSNP:
549+c, tdbSNP:41298814
572+a, tdbSNP:28939675
573+c, tdbSNP:139776757
576+c, tdbSNP:142182296
591+c, tdbSNP:41298816
592+a, gdbSNP:374011293
616+a, gdbSNP:368122035
621+a, gdbSNP:111754814
625+a, gdbSNP:371125236
660+dbSNP:
660+c, tdbSNP:200036203
696+a, gdbSNP:138724943
708+a, gdbSNP:375727246
711+c, gdbSNP:74315522
729+g, tdbSNP:201107301
759+a, cdbSNP:141186024
762+a, gdbSNP:150320937
793+c, tdbSNP:2301558
801+c, tdbSNP:367657296
807+c, tdbSNP:149453540
810+c, gdbSNP:371829515
813+c, tdbSNP:200021644
842+dbSNP:
842+a, gdbSNP:373539086
855+c, tdbSNP:201412495
925+a, gdbSNP:144848597
942+c, tdbSNP:61730282
943+g, tdbSNP:190302733
1017+dbSNP:
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
1291+a, gdbSNP:375380772
1292+c, tdbSNP:144421657
1301+a, gdbSNP:369898376
1304+c, tdbSNP:147834990
1305+c, tdbSNP:372448872
1306+a, gdbSNP:5993826
1316+a, gdbSNP:207477905
1317+a, tdbSNP:375709966
1337+c, tdbSNP:72646973
1341+c, tdbSNP:372837457
1350+c, gdbSNP:41298008
1351+a, tdbSNP:370729983
1362+a, gdbSNP:200575065
1383+c, gdbSNP:41298010
1447+g, tdbSNP:5746826
Gene SymbolTBX1
Gene SynonymCAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
Chromosome22
Locus Map22q11.21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. On-demand TBD TBD
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. On-demand TBD TBD
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. On-demand TBD TBD
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. On-demand TBD TBD
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. On-demand TBD TBD
Title Genetic analysis of the TBX1 gene promoter in indirect inguinal hernia .
Author Zhang Y, Han Q, Li C, Li W, Fan H, Xing Q and Yan B.
Journal Gene 535 (2), 290-293 (2014)
Title GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association .
Author Renteria ME, Coolen MW, Statham AL, Choi RS, Qu W, Campbell MJ, Smith S, Henders AK, Montgomery GW, Clark SJ, Martin NG and Medland SE.
Journal Twin Res Hum Genet 16 (4), 767-781 (2013)
Title Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes .
Author Chinnadurai S and Goudy S.
Journal Curr Opin Otolaryngol Head Neck Surg 20 (6), 502-506 (2012)
Title Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients .
Author Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS and Morrow BE.
Journal Am. J. Med. Genet. A 158A (11), 2781-2787 (2012)
Title The T-box transcription factor Brachyury regulates epithelial-mesenchymal transition in association with cancer stem-like cells in adenoid cystic carcinoma cells .
Author Shimoda M, Sugiura T, Imajyo I, Ishii K, Chigita S, Seki K, Kobayashi Y and Shirasuna K.
Journal BMC Cancer 12, 377 (2012)
Title Developing models of DiGeorge syndrome .
Author Epstein JA.
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 RM and Campbell CE.
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 BS and Budarf ML.
Journal Genomics 43 (3), 267-277 (1997)
Title 22q11.2 Deletion Syndrome .
Author McDonald-McGinn,D.M., Emanuel,B.S. and Zackai,E.H.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome .
Author Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J and Jones MC.
Journal Am. J. Med. Genet. 44 (2), 261-268 (1992)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.