Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA.
| RefSeq Version | NM_001130916.1, 195963411 |
| Length | 6244 bp |
| Structure | linear |
| Update Date | 23-APR-2011 |
| 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 |
| Comment | 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]. 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 | Exon (1) | 1..173 | Exon (2) | 1..173 | Exon (3) | 174..419 | Exon (4) | 420..650 | Exon (5) | 651..818 | Exon (6) | 819..975 | Exon (7) | 976..1100 | Exon (8) | 1101..1231 | Exon (9) | 1232..6244 |
| Translation | MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTE
TTDKVIHNSMCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGLPLLV
QRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREERSWFREAEIYQTVMLRHE
NILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH
MEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKR
YMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPS
VEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQ
QEGIKM
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| Gene Symbol | TGFBR1 |
| Gene Synonym | AAT5; ACVRLK4; ALK-5; ALK5; LDS1A; LDS2A; SKR4; TGFR-1 |
| Chromosome | 9 |
| Locus Map | 9q22 |
| All Transcripts | NM_001130916 , NM_004612 |
| Title | GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling . |
| Author | Froese,N., Kattih,B., Breitbart,A., Grund,A., Geffers,R., Molkentin,J.D., Kispert,A., Wollert,K.C., Drexler,H. and Heineke,J. |
| Journal | J. Biol. Chem. 286 (7), 5680-5690 (2011) |
| Title | Expression of TGF-beta receptor ALK-5 has a negative impact on outcome of patients with acute myeloid leukemia . |
| Author | Otten,J., Schmitz,L., Vettorazzi,E., Schultze,A., Marx,A.H., Simon,R., Krauter,J., Loges,S., Sauter,G., Bokemeyer,C. and Fiedler,W. |
| Journal | Leukemia 25 (2), 375-379 (2011) |
| Title | Genetic variation in the TGF-beta signaling pathway and colon and rectal cancer risk . |
| Author | Slattery,M.L., Herrick,J.S., Lundgreen,A. and Wolff,R.K. |
| Journal | Cancer Epidemiol. Biomarkers Prev. 20 (1), 57-69 (2011) |
| Title | Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 . |
| Author | Goudie,D.R., D'Alessandro,M., Merriman,B., Lee,H., Szeverenyi,I., Avery,S., O'Connor,B.D., Nelson,S.F., Coats,S.E., Stewart,A., Christie,L., Pichert,G., Friedel,J., Hayes,I., Burrows,N., Whittaker,S., Gerdes,A.M., Broesby-Olsen,S., Ferguson-Smith,M.A., Verma,C., Lunny,D.P., Reversade,B. and Lane,E.B. |
| Journal | Nat. Genet. 43 (4), 365-369 (2011) |
| Title | The role of the TGF-beta coreceptor endoglin in cancer . |
| Author | Perez-Gomez,E., Del Castillo,G., Juan Francisco,S., Lopez-Novoa,J.M., Bernabeu,C. and Quintanilla,M. |
| Journal | ScientificWorldJournal 10, 2367-2384 (2010) |
| Title | GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex . |
| Author | Wieser,R., Wrana,J.L. and Massague,J. |
| Journal | EMBO J. 14 (10), 2199-2208 (1995) |
| Title | Specific interaction of type I receptors of the TGF-beta family with the immunophilin FKBP-12 . |
| Author | Wang,T., Donahoe,P.K. and Zervos,A.S. |
| Journal | Science 265 (5172), 674-676 (1994) |
| Title | TGF beta signals through a heteromeric protein kinase receptor complex . |
| Author | Wrana,J.L., Attisano,L., Carcamo,J., Zentella,A., Doody,J., Laiho,M., Wang,X.F. and Massague,J. |
| Journal | Cell 71 (6), 1003-1014 (1992) |
| Title | Endoglin is a component of the transforming growth factor-beta receptor system in human endothelial cells . |
| Author | Cheifetz,S., Bellon,T., Cales,C., Vera,S., Bernabeu,C., Massague,J. and Letarte,M. |
| Journal | J. Biol. Chem. 267 (27), 19027-19030 (1992) |
| Title | Receptors for the TGF-beta family . |
| Author | Massague,J. |
| Journal | Cell 69 (7), 1067-1070 (1992) |
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