| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 7046 |
Name | TGFBR1 |
Synonym | AAT5|ACVRLK4|ALK-5|ALK5|LDS1A|LDS2A|MSSE|SKR4|TGFR-1;transforming growth factor, beta receptor 1;TGFBR1;transforming growth factor, beta receptor 1 |
Definition | TGF-beta receptor type I|TGF-beta receptor type-1|TGF-beta type I receptor|activin A receptor type II-like kinase, 53kD|activin A receptor type II-like kinase, 53kDa|activin A receptor type II-like protein kinase of 53kD|activin receptor-like kinase 5|ser |
Position | 9q22 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PAH | "Expression of TGF-beta1 and its receptor genes (TbetaR I, TbetaR II, and TbetaR III-betaglycan) in peripheral blood leucocytes in patients with idiopathic pulmonary arterial hypertension and Eisenmenger's syndrome." |
PAH | Activin-like kinase 5 (ALK5) mediates abnormal proliferation of vascular smooth muscle cells from patients with familial pulmonary arterial hypertension and is involved in the progression of experimental pulmonary arterial hypertension induced by monocrotaline. |
PH | Altered bone morphogenetic protein and transforming growth factor-beta signaling in rat models of pulmonary hypertension: potential for activin receptor-like kinase-5 inhibition in prevention and progression of disease. |
| More detail of all Human literatures about TGFBR1 | |
|
Pathways and Diseases |
|
Pathway | Chagas disease;KEGG PATHWAY;hsa05142 |
Pathway | Endocytosis;KEGG PATHWAY;hsa04144 |
Pathway | ctcf: first multivalent nuclear factor;PID BioCarta;100194 |
Pathway | Signaling by TGF beta;PID Reactome;500590 |
Pathway | Adherens junction;KEGG PATHWAY;hsa04520 |
Pathway | Chronic myeloid leukemia;KEGG PATHWAY;hsa05220 |
Pathway | Cytokine-cytokine receptor interaction;KEGG PATHWAY;hsa04060 |
Pathway | TGF-beta receptor signaling;PID Curated;200195 |
Pathway | Wnt signaling pathway;PANTHER;P00057 |
Pathway | MAPK signaling pathway;KEGG PATHWAY;hsa04010 |
Pathway | ALK1 signaling events;PID Curated;200126 |
Pathway | nfkb activation by nontypeable hemophilus influenzae;PID BioCarta;100088 |
Pathway | TGF-beta signaling pathway;PANTHER;P00052 |
Pathway | tgf beta signaling pathway;PID BioCarta;100017 |
Pathway | TGF-beta signaling pathway;KEGG PATHWAY;hsa04350 |
Pathway | Glypican 1 network;PID Curated;200021 |
Pathway | Signaling by TGF beta;Reactome;REACT:6844 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Pathway | alk in cardiac myocytes;PID BioCarta;100244 |
Pathway | Colorectal cancer;KEGG PATHWAY;hsa05210 |
Pathway | Pancreatic cancer;KEGG PATHWAY;hsa05212 |
Disease | Loeys-Dietz syndrome, type 1A;OMIM |
Disease | cancer;GAD |
Disease | kidney cancer;GAD |
Disease | prostate cancer;GAD |
Disease | CANCER;GAD |
Disease | bladder cancer;GAD |
Disease | INFECTION;GAD |
Disease | Loeys-Dietz syndrome, type 2A;OMIM |
Disease | respiratory syncytial virus bronchiolitis;GAD |
Disease | colorectal cancer;GAD |
|
External Links |
|
Links to Entrez Gene | 7046 |
Links to all GeneRIF Items | 7046 |
Links to iHOP | 7046 |
|
Sequence Information |
|
Nucleotide Sequence |
>7046 : length: 1281 atggaggcggcggtcgctgctccgcgtccccggctgctcctcctcgtgctggcggcggcg gcggcggcggcggcggcgctgctcccgggggcgacggcgttacagtgtttctgccacctc tgtacaaaagacaattttacttgtgtgacagatgggctctgctttgtctctgtcacagag accacagacaaagttatacacaacagcatgtgtatagctgaaattgacttaattcctcga gataggccgtttgtatgtgcaccctcttcaaaaactgggtctgtgactacaacatattgc tgcaatcaggaccattgcaataaaatagaacttccaactactggtttaccattgcttgtt cagagaacaattgcgagaactattgtgttacaagaaagcattggcaaaggtcgatttgga gaagtttggagaggaaagtggcggggagaagaagttgctgttaagatattctcctctaga gaagaacgttcgtggttccgtgaggcagagatttatcaaactgtaatgttacgtcatgaa aacatcctgggatttatagcagcagacaataaagacaatggtacttggactcagctctgg ttggtgtcagattatcatgagcatggatccctttttgattacttaaacagatacacagtt actgtggaaggaatgataaaacttgctctgtccacggcgagcggtcttgcccatcttcac atggagattgttggtacccaaggaaagccagccattgctcatagagatttgaaatcaaag aatatcttggtaaagaagaatggaacttgctgtattgcagacttaggactggcagtaaga catgattcagccacagataccattgatattgctccaaaccacagagtgggaacaaaaagg tacatggcccctgaagttctcgatgattccataaatatgaaacattttgaatccttcaaa cgtgctgacatctatgcaatgggcttagtattctgggaaattgctcgacgatgttccatt ggtggaattcatgaagattaccaactgccttattatgatcttgtaccttctgacccatca gttgaagaaatgagaaaagttgtttgtgaacagaagttaaggccaaatatcccaaacaga tggcagagctgtgaagccttgagagtaatggctaaaattatgagagaatgttggtatgcc aatggagcagctaggcttacagcattgcggattaagaaaacattatcgcaactcagtcaa caggaaggcatcaaaatgtaa |
Protein Sequence |
>7046 : length: 426 MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTE TTDKVIHNSMCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGLPLLV QRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREERSWFREAEIYQTVMLRHE NILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH MEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKR YMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPS VEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQ QEGIKM |