• THAT   AND

Sequence in raw or FASTA format:


Blast Method:


Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16616 Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu16616C Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, 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_001130916.1, 195963411
Length 1281 bp
Structure linear
Update Date 20-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA.
Product TGF-beta receptor type-1 isoform 2 precursor

Summary: The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that has a shorter N-terminus, compared to isoform 1.

Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_001124388.1
CDS 77..1357
Misc Feature(1)23..25
Misc Feature(2)23..25
Misc Feature(3)179..418
Misc Feature(4)<416..454
Misc Feature(5)458..1315
Misc Feature(6)476..1078
Misc Feature(7)order(476..490,500..502,533..535,539..541,623..625,
Misc Feature(8)order(476..490,500..502,533..535,539..541,623..625,
Misc Feature(9)order(488..490,704..706,710..712,842..844,848..850,
Misc Feature(10)<836..1330
Misc Feature(11)order(842..844,848..850,854..856,905..907,962..973)
Misc Feature(12)order(893..913,965..976)
Misc Feature(13)order(893..910,962..973)
Exon (1)1..173
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Exon (2)174..419
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Exon (3)420..650
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Exon (4)651..818
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Exon (5)819..975
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Exon (6)976..1100
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Exon (7)1101..1231
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Exon (8)1232..6244
Gene Synonym:AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
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Position Chain Variation Link
60+a, gdbSNP:201177231
67+c, tdbSNP:199624653
75+c, tdbSNP:200224304
145..153+, ggcggcggcdbSNP:11466445
196+c, tdbSNP:201267786
210+a, gdbSNP:387906696
211+c, tdbSNP:369226180
244+c, tdbSNP:199534451
263+a, gdbSNP:200779997
268+a, gdbSNP:112051451
283+c, tdbSNP:145033378
290+a, tdbSNP:111513627
298+a, cdbSNP:201910738
301+c, tdbSNP:200543076
325+a, gdbSNP:200091200
346+, adbSNP:147107882
381+a, gdbSNP:200860457
391+c, tdbSNP:201771506
394+c, tdbSNP:149417020
410+c, gdbSNP:199904970
418+g, tdbSNP:371415976
427+a, tdbSNP:200679996
441+a, gdbSNP:397517032
444+c, tdbSNP:121918712
451+a, gdbSNP:201497553
458+a, gdbSNP:200018073
517+a, gdbSNP:201021249
523+a, gdbSNP:201444476
547+c, tdbSNP:202156059
565+c, tdbSNP:200078591
567+c, tdbSNP:111854391
568+a, gdbSNP:201112150
598+c, tdbSNP:202189494
624+a, tdbSNP:397517033
640+a, cdbSNP:200158200
654+a, gdbSNP:201475375
655+c, tdbSNP:147388628
658+c, tdbSNP:200511345
680+c, gdbSNP:112300506
706+c, tdbSNP:371269876
707+c, tdbSNP:201605956
716+c, tdbSNP:191136014
717+a, gdbSNP:35974499
723+a, gdbSNP:199759998
728+a, tdbSNP:200560562
733+a, gdbSNP:201943631
740+a, gdbSNP:199822546
742+a, gdbSNP:369881419
771+c, tdbSNP:200518416
772+a, gdbSNP:201323409
774+c, tdbSNP:202010361
775+a, gdbSNP:139090459
778+c, tdbSNP:200912890
798+g, tdbSNP:121918710
838+c, tdbSNP:199770942
854+a, gdbSNP:113911127
877+c, tdbSNP:192662552
885+a, c, gdbSNP:113786548
936+c, gdbSNP:201050937
955+c, tdbSNP:368402450
970+a, cdbSNP:7861780
997+c, tdbSNP:115324990
1014+c, tdbSNP:199574997
1038+a, gdbSNP:200657153
1044+a, gdbSNP:121918711
1048+c, tdbSNP:200358981
1055+a, gdbSNP:143435050
1061+a, c, tdbSNP:200062984
1064+c, gdbSNP:146549837
1077+c, tdbSNP:200986584
1082+c, tdbSNP:200595614
1085+c, tdbSNP:387906697
1123+g, tdbSNP:368928967
1129+c, tdbSNP:201163170
1130+c, tdbSNP:201745016
1200+, cdbSNP:111820381
1244+a, gdbSNP:199926741
1278+a, gdbSNP:141259922
1280+a, gdbSNP:377194685
1301+c, tdbSNP:111818778
1304+c, tdbSNP:111426349
1305+a, c, gdbSNP:113605875
1324+a, gdbSNP:144985585
1342+a, gdbSNP:200055681
1362+a, gdbSNP:201254457
1377+c, tdbSNP:369611795
1382+c, tdbSNP:202041245
1388+c, tdbSNP:201753435
1403+c, tdbSNP:192327847
1413+a, gdbSNP:994
1426+a, gdbSNP:868
1439+a, tdbSNP:200966435
1457+g, tdbSNP:201855724
1471+c, tdbSNP:200434439
1476+g, tdbSNP:184489732
1477+c, tdbSNP:201350756
1503..1504+, cdbSNP:35702937
1544+c, tdbSNP:202238690
1553+c, tdbSNP:200533591
1562+c, tdbSNP:201419046
1563+a, gdbSNP:199609928
1568+a, tdbSNP:200495698
1609+c, tdbSNP:201563225
1654+c, tdbSNP:199683401
1668+a, gdbSNP:200804500
1695+a, gdbSNP:201682869
1696+g, tdbSNP:199861787
1702+a, gdbSNP:200832519
1714+a, tdbSNP:368380699
1717+a, gdbSNP:145692006
1728+c, tdbSNP:200019371
1729+c, tdbSNP:200786932
1732+c, tdbSNP:201903995
1773+c, gdbSNP:200063976
1786+c, gdbSNP:201260283
1798+c, tdbSNP:202012098
1813+g, tdbSNP:200245567
1827+a, gdbSNP:201142879
1830+a, gdbSNP:202133538
1831..1832+, tdbSNP:377107241
1839+g, tdbSNP:200294552
1859+c, tdbSNP:201269197
1870+a, tdbSNP:199521592
1877+c, tdbSNP:200514984
1880+a, gdbSNP:11568807
1895+c, tdbSNP:199578935
1909+a, gdbSNP:200511595
1912+a, gdbSNP:201606447
1919+c, gdbSNP:199765042
1923+c, tdbSNP:11568808
1931+a, gdbSNP:201687617
1986+a, cdbSNP:199867951
1994+a, gdbSNP:201205567
2071+a, gdbSNP:201984381
2085+a, gdbSNP:199993828
2113+c, tdbSNP:200926268
2135+a, gdbSNP:202158467
2146+a, gdbSNP:200428927
2153+a, cdbSNP:201076760
2188+a, cdbSNP:201996934
2200+g, tdbSNP:200224469
2206+c, tdbSNP:201615730
2234+a, gdbSNP:199734350
2241+a, gdbSNP:334348
2247+a, gdbSNP:201052504
2249+a, gdbSNP:199549381
2250+a, gdbSNP:200679214
2256+c, tdbSNP:36049024
2270+c, tdbSNP:201990134
2278+g, tdbSNP:34325659
2283+c, tdbSNP:199584415
2306+a, gdbSNP:189593120
2324+c, gdbSNP:200755777
2335+a, gdbSNP:35870119
2361+a, tdbSNP:35607843
2363+c, tdbSNP:201910377
2391+a, gdbSNP:200005909
2393+g, tdbSNP:201098935
2403+g, tdbSNP:201701125
2406+c, tdbSNP:11568809
2420+a, gdbSNP:201191454
2445+c, tdbSNP:202224779
2460+c, gdbSNP:199978072
2468+c, tdbSNP:201110333
2511+c, tdbSNP:141078676
2528+c, tdbSNP:10988732
2536+a, gdbSNP:193056376
2539+c, tdbSNP:200376574
2540+a, gdbSNP:184564501
2563+c, gdbSNP:201746454
2564+a, gdbSNP:200186059
2589+c, tdbSNP:201621825
2596+c, tdbSNP:199740407
2597+a, gdbSNP:200689459
2601+a, gdbSNP:201519485
2616+c, g, tdbSNP:150247576
2617+a, gdbSNP:200765185
2626+c, g, tdbSNP:189032587
2645+g, tdbSNP:199956399
2650+c, g, tdbSNP:200739404
2673+c, gdbSNP:201894361
2677+a, gdbSNP:138860379
2689+a, gdbSNP:200076723
2699+a, gdbSNP:201116349
2700+c, tdbSNP:11568810
2722+g, tdbSNP:199891042
2726+a, gdbSNP:200970226
2733+c, gdbSNP:201863088
2735+a, gdbSNP:200278937
2762+c, tdbSNP:201453348
2767+c, tdbSNP:201952413
2769+c, tdbSNP:200562457
2785+c, gdbSNP:11568811
2804+a, tdbSNP:199588065
2808+c, tdbSNP:200560836
2872+a, gdbSNP:11568812
2898+c, tdbSNP:199733000
2924+a, gdbSNP:200669525
2929+a, gdbSNP:79410528
2931+a, gdbSNP:199522012
2939+c, tdbSNP:200943776
2960+a, gdbSNP:201500025
2969+c, tdbSNP:200036408
2971+a, gdbSNP:200791684
2997+a, gdbSNP:201604963
3016+c, tdbSNP:200082162
3045+c, tdbSNP:201101156
3054+c, tdbSNP:181403208
3067+a, gdbSNP:200197062
3105+a, gdbSNP:201222590
3108+c, tdbSNP:202128625
3109+a, gdbSNP:200296344
3116+a, cdbSNP:183812806
3129+a, cdbSNP:201191009
3135+a, gdbSNP:200566464
3155+c, tdbSNP:138248864
3155+c, tdbSNP:386471081
3156+a, gdbSNP:199580278
3161+a, gdbSNP:200656974
3182+a, gdbSNP:201607717
3225+a, gdbSNP:199765790
3226+c, gdbSNP:200570178
3235+g, tdbSNP:201434094
3298+a, tdbSNP:199811787
3317+c, tdbSNP:201307737
3345+g, tdbSNP:201829833
3362+g, tdbSNP:144216869
3438..3440+, gttdbSNP:75796733
3438+g, tdbSNP:200898127
3439+g, tdbSNP:112113922
3443+g, tdbSNP:148063684
3447+g, tdbSNP:201152885
3449..3450+, tdbSNP:376556150
3449+g, tdbSNP:199545273
3450+g, tdbSNP:202187266
3450+, tdbSNP:200529894
3451+g, tdbSNP:200204084
3452+g, tdbSNP:201780012
3453+g, tdbSNP:200867114
3454..3455+, g, gt, tgdbSNP:61566226
3455+g, tdbSNP:201738100
3456+g, tdbSNP:199659996
3460..3461+, gdbSNP:36064078
3460+g, tdbSNP:7871490
3463+g, tdbSNP:201054018
3469..3470+, tttdbSNP:199589877
3469+g, tdbSNP:60885995
3474+g, tdbSNP:181680115
3503+c, tdbSNP:200675329
3511+a, gdbSNP:201153037
3536+, adbSNP:373576679
3610+c, tdbSNP:199645690
3619+g, tdbSNP:200653031
3631+a, gdbSNP:202068970
3750+a, gdbSNP:77810552
3767+c, tdbSNP:200722893
3768+a, gdbSNP:11568813
3772+g, tdbSNP:140497381
3783+a, gdbSNP:185811148
3808+g, tdbSNP:201140077
3830+a, tdbSNP:202106034
3877+c, tdbSNP:200032389
3878+c, tdbSNP:200985953
3879+a, gdbSNP:202239214
3893+a, cdbSNP:200378819
3913+a, tdbSNP:200553684
3932+a, gdbSNP:201156487
3945+c, tdbSNP:201719827
3947+a, cdbSNP:11544423
3975+c, gdbSNP:200240411
3977+a, gdbSNP:201765733
3984+g, tdbSNP:147373120
3993+a, tdbSNP:199685230
4002+a, cdbSNP:17724567
4003+c, tdbSNP:201410594
4009+a, gdbSNP:199515707
4042+g, tdbSNP:145043837
4051+a, gdbSNP:201761492
4052+a, gdbSNP:199959704
4053+a, gdbSNP:200552727
4055+a, gdbSNP:202073426
4060+a, gdbSNP:76392135
4064+c, tdbSNP:201264579
4089+c, tdbSNP:202010937
4116+a, gdbSNP:199878100
4117+c, gdbSNP:201021066
4148+a, gdbSNP:201846922
4156+c, tdbSNP:200274678
4157+a, gdbSNP:334349
4175+a, gdbSNP:202139828
4190+a, gdbSNP:200520116
4198+a, gdbSNP:201591510
4201+c, tdbSNP:199594054
4203+a, gdbSNP:200238696
4212+c, tdbSNP:201552761
4213+a, gdbSNP:199736646
4234+c, tdbSNP:200813968
4259+g, tdbSNP:201689327
4262+a, gdbSNP:199520869
4274+g, tdbSNP:144871415
4279+c, tdbSNP:200836217
4293+a, tdbSNP:202035846
4313+c, tdbSNP:200010917
4334+c, tdbSNP:200777095
4335+a, gdbSNP:28427103
4412+a, gdbSNP:201599459
4416+a, gdbSNP:200138586
4440+a, gdbSNP:201249841
4441+a, cdbSNP:202000313
4451+a, gdbSNP:191007659
4462+a, gdbSNP:200225987
4466+a, gdbSNP:201277448
4472+c, gdbSNP:202129409
4486+c, g, tdbSNP:200301959
4487+c, tdbSNP:201273317
4498+a, gdbSNP:199540214
4502+a, gdbSNP:11544424
4507+c, tdbSNP:200525939
4548+a, cdbSNP:201595773
4549+c, tdbSNP:148797981
4563+c, tdbSNP:200734120
4573+g, tdbSNP:201601841
4575+a, gdbSNP:142454519
4578+a, gdbSNP:199752579
4580+a, cdbSNP:200620396
complement(4582)-t, cdbSNP:3739798
4584+a, gdbSNP:199886589
4592+c, tdbSNP:201191549
4594+c, tdbSNP:151310060
4602+c, gdbSNP:202040220
4607+c, tdbSNP:199982490
4613+a, cdbSNP:201114226
4618+c, tdbSNP:117440593
4619+c, tdbSNP:78385793
4634+c, tdbSNP:201094276
4643+c, gdbSNP:420549
4653+a, g, tdbSNP:200228516
4655+a, gdbSNP:140654961
4663+a, gdbSNP:202218587
4671+a, gdbSNP:200374520
4674+c, gdbSNP:201113438
4709+c, tdbSNP:199531451
4718+a, gdbSNP:200676329
4723+c, tdbSNP:145719397
4724+c, tdbSNP:199642245
4725+a, gdbSNP:200742860
4733+a, gdbSNP:201896896
4739+g, tdbSNP:200080374
4747+a, gdbSNP:200724388
4756+g, tdbSNP:201706420
4783+a, gdbSNP:199858917
4785+g, tdbSNP:201143384
4786+, adbSNP:78078491
4805+c, tdbSNP:146582850
4815+c, tdbSNP:199969402
4824+a, gdbSNP:201094409
4839+c, g, tdbSNP:201952588
4860+g, tdbSNP:200562618
4900+c, tdbSNP:201157110
4901+a, cdbSNP:201723845
4919+a, gdbSNP:200245074
4922+c, tdbSNP:201287805
4971+a, tdbSNP:199726281
5055+a, gdbSNP:200670357
5058+g, tdbSNP:201522923
5065+a, tdbSNP:181994273
5070+a, gdbSNP:200775937
5088+g, tdbSNP:201764616
5092+c, tdbSNP:199961896
5116+a, gdbSNP:200535063
5136+c, tdbSNP:201887512
5137+a, gdbSNP:200173366
5144+c, tdbSNP:377612306
5147+c, tdbSNP:201101442
5155+a, gdbSNP:141277814
5173+a, gdbSNP:199803452
5187+c, tdbSNP:186157987
5192+a, cdbSNP:201848660
5233+a, gdbSNP:200275772
5235+c, tdbSNP:190633391
5290+c, tdbSNP:200772657
5291+c, tdbSNP:201957037
5312+a, gdbSNP:200567981
5336+c, gdbSNP:114704997
5337+a, gdbSNP:199582297
5350+g, tdbSNP:200241838
5384+a, gdbSNP:201535475
5387+a, gdbSNP:199718989
5389+c, gdbSNP:200721028
5397+a, tdbSNP:41283640
5448+a, gdbSNP:199511095
5452+c, tdbSNP:200932500
5467+a, tdbSNP:201831473
5472+a, gdbSNP:200013714
5478+g, tdbSNP:200780252
5487+a, gdbSNP:201600236
5493+c, tdbSNP:200142252
5520+c, gdbSNP:201105741
5546+a, gdbSNP:202187992
5559+a, gdbSNP:200206515
5561+a, gdbSNP:201385076
5564+g, tdbSNP:202104135
5577+c, tdbSNP:200270666
5583+g, tdbSNP:201343315
5593+a, tdbSNP:182830158
5635+c, tdbSNP:200414044
5650+a, gdbSNP:201453868
5652+c, tdbSNP:199650257
5657+c, g, tdbSNP:41283642
5668+c, tdbSNP:202070537
5686+a, gdbSNP:199756594
5688+c, tdbSNP:200621336
5713+a, gdbSNP:201446431
5723+a, gdbSNP:199892683
5724+c, tdbSNP:201313404
5729+c, tdbSNP:201836319
5732+a, gdbSNP:200033182
5745+a, gdbSNP:200967869
5753+a, cdbSNP:201960827
5767+g, tdbSNP:200110980
5768+a, tdbSNP:201041849
5802+c, g, tdbSNP:202020004
5814+c, tdbSNP:200302744
5846+c, tdbSNP:7850895
5850+a, gdbSNP:41274644
5855+c, tdbSNP:200426010
5856+a, gdbSNP:79641064
5883+c, gdbSNP:190176458
5899+g, tdbSNP:199544779
5915+g, tdbSNP:200673182
5922+c, tdbSNP:138721378
5932+a, cdbSNP:199690272
complement(5935)-c, adbSNP:1590
5941+a, c, tdbSNP:202059366
5959+a, gdbSNP:200142533
5975+c, gdbSNP:200893525
5980+c, gdbSNP:200806851
5991+g, tdbSNP:183125039
6008+c, gdbSNP:199856397
6020+c, tdbSNP:201217895
6040+a, gdbSNP:202131821
6051+c, tdbSNP:200026653
6062+c, tdbSNP:200982996
6085+a, g, tdbSNP:187415138
6103+c, tdbSNP:149547319
6107+c, tdbSNP:193268210
6110+a, gdbSNP:201737358
6141+a, gdbSNP:200227864
6146+a, gdbSNP:201292552
6147+a, gdbSNP:199749616
6150+a, tdbSNP:77001090
6155+g, tdbSNP:200878817
6161+c, tdbSNP:201414939
6162+c, tdbSNP:199504836
6164+g, tdbSNP:143177738
6166+a, tdbSNP:185400896
6169+a, gdbSNP:138857390
6176+c, tdbSNP:376933076
6189+g, tdbSNP:199959527
6209+a, gdbSNP:200530773
6211+, adbSNP:35118283
6227+a, tdbSNP:201913378
Gene SymbolTGFBR1
Gene SynonymAAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Locus Map9q22
Title Glucocorticoids recruit Tgfbr3 and Smad1 to shift transforming growth factor-beta signaling from the Tgfbr1/Smad2/3 axis to the Acvrl1/Smad1 axis in lung fibroblasts .
Author Schwartze JT, Becker S, Sakkas E, Wujak LA, Niess G, Usemann J, Reichenberger F, Herold S, Vadasz I, Mayer K, Seeger W and Morty RE.
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