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Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_030984 Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_030984.3, 261278364
Length 1919 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 2, mRNA.
Product thromboxane-A synthase isoform 2
Comment

Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].


Transcript Variant: This variant (2, also known as TXS-II) lacks an alternate exon in the 3' coding region that encodes the heme binding site, compared to transcript variant 1. The encoded isoform (2, also known as isoform TXS-II) lacks thromboxane A synthase activity, has a distinct C-terminus, and is shorter than isoform 1.


CCDS Note: This CCDS representation uses the 5'-most in-frame start codon. It should be noted that this start codon is restricted to primate species (human, chimp, orangutan, rhesus and marmoset), whereas other mammalian species use a much better-conserved downstream start codon, which has a stronger Kozak signal. It is possible that the first start codon is used in human some of the time, while leaky scanning by ribosomes allows the second start codon to be used more of the time. The use of the latter would reduce the protein length by 1 aa. There is no experimental evidence indicating which start codon is preferably used in vivo.

RefSeq NP_112246.2
CDS 236..1618
Misc Feature(1)68
Misc Feature(2)173..175
Misc Feature(3)377..1606
Misc Feature(4)377..1606
Exon (1)1..327
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (2)328..421
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (3)422..474
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (4)475..571
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (5)572..688
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (6)689..777
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (7)778..926
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (8)927..1057
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (9)1058..1372
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (10)1373..1464
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (11)1465..1602
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Exon (12)1603..1903
Gene:TBXAS1
Gene Synonym:BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Translation MMEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFF RQGFWESQMELRKLYGPLCGYYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKS VADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQ RCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPL ARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDI VRDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLAT NPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCE VLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERYRCS
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Position Chain Variation Link
8+dbSNP:
8+a, gdbSNP:150958431
195+c, tdbSNP:181789109
240+g, tdbSNP:148207522
288+c, tdbSNP:61733586
289+a, gdbSNP:201600575
305+g, tdbSNP:77579057
326+c, tdbSNP:146180153
350+dbSNP:
350+a, gdbSNP:137899905
416+c, tdbSNP:143035930
417+a, gdbSNP:6138
446+dbSNP:
446+c, tdbSNP:140463378
483+dbSNP:
483+c, tdbSNP:140005285
489+a, gdbSNP:193110720
501+c, tdbSNP:184269562
503+a, gdbSNP:149814692
512+a, gdbSNP:144789379
573+dbSNP:
573+c, tdbSNP:139976441
583+c, gdbSNP:145491642
595+a, c, gdbSNP:41275018
608+a, gdbSNP:8192833
658+a, gdbSNP:200508924
679+c, gdbSNP:142359181
685+c, tdbSNP:199666672
692+dbSNP:
692+a, gdbSNP:142284603
713+c, tdbSNP:150999114
718+g, tdbSNP:5768
722+a, cdbSNP:6137
741+a, gdbSNP:150139510
760+c, tdbSNP:201279773
820+dbSNP:
820+c, gdbSNP:1042561
830+c, gdbSNP:138612126
831+c, tdbSNP:140278426
859+a, tdbSNP:143125111
861+c, gdbSNP:137946697
874+c, tdbSNP:142313797
917+a, gdbSNP:148258306
972+dbSNP:
972+a, gdbSNP:55856189
980+c, tdbSNP:200644306
981+a, gdbSNP:141602429
1007+a, gdbSNP:5769
1016+a, gdbSNP:5770
1034+c, tdbSNP:140774405
1035+c, gdbSNP:145426879
1062+dbSNP:
1062+a, gdbSNP:201485922
1086+c, tdbSNP:199733937
1093+c, gdbSNP:147264784
1118+a, gdbSNP:13306052
1124+a, gdbSNP:200064479
1142+a, gdbSNP:181415079
1144+c, tdbSNP:186487639
1170+c, tdbSNP:202115912
1184+a, cdbSNP:5771
1230+c, tdbSNP:6140
1237+c, tdbSNP:149759095
1295+g, tdbSNP:145733169
1304+c, gdbSNP:4529
1372+c, tdbSNP:13306054
1374+dbSNP:
1374+c, tdbSNP:142238148
1381+c, tdbSNP:201680614
1397+c, tdbSNP:3735354
1404+g, tdbSNP:5760
1424+c, gdbSNP:201269727
1437+c, tdbSNP:78666490
1439+c, tdbSNP:143966863
1441+a, gdbSNP:5761
1464+a, gdbSNP:13306055
1472+dbSNP:
1472+c, tdbSNP:200525534
1473+a, gdbSNP:199422117
1484+c, gdbSNP:4528
1492+c, tdbSNP:13306049
1493+a, gdbSNP:150087656
1498+a, gdbSNP:138413218
1507+a, gdbSNP:202122899
1508+c, tdbSNP:5762
1517+c, tdbSNP:2286199
1523+a, gdbSNP:4526
1540+c, tdbSNP:4527
1579+c, tdbSNP:113298427
1582+a, gdbSNP:147299625
1583+a, gdbSNP:8192868
1587+a, cdbSNP:5763
1607+dbSNP:
1607+c, tdbSNP:13306050
1618+a, gdbSNP:199906594
1662+a, gdbSNP:200093421
1665+c, tdbSNP:200481367
1666+a, gdbSNP:185290287
1671+c, tdbSNP:202145405
1672+c, tdbSNP:201159138
1691+c, gdbSNP:200404222
1696+c, gdbSNP:149010293
1798+a, gdbSNP:56091454
1799+a, gdbSNP:5765
1842+a, gdbSNP:13306051
Gene SymbolTBXAS1
Gene SynonymBDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS
Chromosome7
Locus Map7q34-q35
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001061 Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
NM_001130966 Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 3, mRNA. In-stock $509.00 $460.00 12
NM_001166253 Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. On-demand $849.00 20
NM_001166254 Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 5, mRNA. In-stock $509.00 $460.00 12
NM_030984 Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 2, mRNA. On-demand $699.00 18
Title Functional analysis of human thromboxane synthase polymorphic variants .
Author Chen,C.Y., Poole,E.M., Ulrich,C.M., Kulmacz,R.J. and Wang,L.H.
Journal Pharmacogenet. Genomics 22 (9), 653-658 (2012)
Title Thromboxane synthase: structure and function of protein and gene .
Author Wang,L.H. and Kulmacz,R.J.
Journal Prostaglandins Other Lipid Mediat. 68-69, 409-422 (2002)
Title Characterization of the complete genomic structure of human thromboxane synthase gene and functional analysis of its promoter .
Author Tazawa,R., Green,E.D., Ohashi,K., Wu,K.K. and Wang,L.H.
Journal Arch. Biochem. Biophys. 334 (2), 349-356 (1996)
Title Genomic structure and polymorphism of the human thromboxane synthase-encoding gene .
Author Baek,S.J., Lee,K.D. and Shen,R.F.
Journal Gene 173 (2), 251-256 (1996)
Title Alternate splicing of human thromboxane synthase mRNA .
Author Wang,L.H., Tazawa,R., Lang,A.Q. and Wu,K.K.
Journal Arch. Biochem. Biophys. 315 (2), 273-278 (1994)
Title Characterization of the human gene (TBXAS1) encoding thromboxane synthase .
Author Miyata,A., Yokoyama,C., Ihara,H., Bandoh,S., Takeda,O., Takahashi,E. and Tanabe,T.
Journal Eur. J. Biochem. 224 (2), 273-279 (1994)
Title Cloning and characterization of the human thromboxane synthase gene promoter .
Author Lee,K.D., Baek,S.J. and Shen,R.F.
Journal Biochem. Biophys. Res. Commun. 201 (1), 379-387 (1994)
Title Primary structure of human thromboxane synthase determined from the cDNA sequence .
Author Ohashi,K., Ruan,K.H., Kulmacz,R.J., Wu,K.K. and Wang,L.H.
Journal J. Biol. Chem. 267 (2), 789-793 (1992)
Title Thromboxane A2 synthesis in human erythroleukemia cells .
Author Jones,D.A., Fitzpatrick,F.A. and Malcolm,K.C.
Journal Biochem. Biophys. Res. Commun. 180 (1), 8-14 (1991)
Title Molecular cloning of human platelet thromboxane A synthase .
Author Yokoyama,C., Miyata,A., Ihara,H., Ullrich,V. and Tanabe,T.
Journal Biochem. Biophys. Res. Commun. 178 (3), 1479-1484 (1991)


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