Human Gene TGFBR1 (ENST00000374994.9_10) from GENCODE V47lift37
  Description: Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L- seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30; Evidence=; (from UniProt Q5T7S2)
Gencode Transcript: ENST00000374994.9_10
Gencode Gene: ENSG00000106799.15_17
Transcript (Including UTRs)
   Position: hg19 chr9:101,867,395-101,916,474 Size: 49,080 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr9:101,867,488-101,911,587 Size: 44,100 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:101,867,395-101,916,474)mRNA (may differ from genome)Protein (503 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TGFBR1
Diseases sorted by gene-association score: multiple self-healing squamous epithelioma* (1379), loeys-dietz syndrome 1* (1231), loeys-dietz syndrome* (318), thoracic aortic aneurysms and aortic dissections* (301), tgfbr1-related loeys-dietz syndrome* (100), tgfbr1-related thoracic aortic aneurysms and aortic dissections* (100), aortic aneurysm (27), aneurysm (19), hereditary hemorrhagic telangiectasia (13), transient hypogammaglobulinemia of infancy (13), marfan syndrome (12), aortic disease (10), cutaneous t cell lymphoma (10), familial thoracic aortic aneurysm and dissection (9), arterial tortuosity syndrome (9), transient hypogammaglobulinemia (9), eisenmenger syndrome (9), telangiectasis (7), gastric cardia adenocarcinoma (7), craniosynostosis (7), bifid uvula (7), osteopathia striata with cranial sclerosis (7), aortic aneurysm, familial thoracic 1 (5), hereditary colorectal cancer (5), pancreatic cancer (5), hepatocellular carcinoma (3), colorectal cancer (3), endometrial cancer (2), osteoporosis (2), lung cancer susceptibility 3 (2), breast cancer (2), pulmonary fibrosis, idiopathic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C459179 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide
  • D037742 Nanotubes, Carbon
  • D013749 Tetrachlorodibenzodioxin
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C029216 2-amino-3-methylimidazo(4,5-f)quinoline
  • C457499 2-chloro-5-nitrobenzanilide
  • C502971 2-phenyl-4-(3-pyridin-2-yl-1H-pyrazol-4-yl)pyridine
  • C509927 4-(4-(3-(pyridin-2-yl)-1H-pyrazol-4-yl)pyridin-2-yl)-N-(tetrahydro-2H-pyran-4-yl)benzamide
  • C027576 4-hydroxy-2-nonenal
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.06 RPKM in Artery - Aorta
Total median expression: 317.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.5093-0.403 Picture PostScript Text
3' UTR -1274.804887-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000472 - Activin_rcpt
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR008271 - Ser/Thr_kinase_AS
IPR003605 - TGF_beta_rcpt_GS

Pfam Domains:
PF00069 - Protein kinase domain
PF01064 - Activin types I and II receptor domain
PF07714 - Protein tyrosine and serine/threonine kinase
PF08515 - Transforming growth factor beta type I GS-motif

SCOP Domains:
51690 - Nicotinate/Quinolinate PRTase C-terminal domain-like
56112 - Protein kinase-like (PK-like)
57302 - Snake toxin-like

ModBase Predicted Comparative 3D Structure on Q5T7S2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005057 signal transducer activity, downstream of receptor
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0050431 transforming growth factor beta binding

Biological Process:
GO:0001938 positive regulation of endothelial cell proliferation
GO:0006468 protein phosphorylation
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007507 heart development
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010717 regulation of epithelial to mesenchymal transition
GO:0016310 phosphorylation
GO:0032924 activin receptor signaling pathway
GO:0035556 intracellular signal transduction
GO:0042118 endothelial cell activation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048762 mesenchymal cell differentiation
GO:0060317 cardiac epithelial to mesenchymal transition

Cellular Component:
GO:0005623 cell
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK302059 - Homo sapiens cDNA FLJ61454 complete cds, highly similar to TGF-beta receptor type-1 precursor (EC 2.7.11.30).
BC071181 - Homo sapiens transforming growth factor, beta receptor 1, mRNA (cDNA clone MGC:71700 IMAGE:30344890), complete cds.
L11695 - Human activin receptor-like kinase (ALK-5) mRNA, complete cds.
AJ619019 - Homo sapiens mRNA for transforming growth factor receptor beta 1 (TBETAR1 gene), long variant.
HW061234 - JP 2012529430-A/109: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061235 - JP 2012529430-A/110: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JB252042 - Sequence 109 from Patent EP2440214.
JB252043 - Sequence 110 from Patent EP2440214.
LP764941 - Sequence 109 from Patent EP3276004.
LP764942 - Sequence 110 from Patent EP3276004.
JD139200 - Sequence 120224 from Patent EP1572962.
AB384823 - Synthetic construct DNA, clone: pF1KB3596, Homo sapiens TGFBR1 gene for TGF-beta receptor type-1 precursor, complete cds, without stop codon, in Flexi system.
KJ892272 - Synthetic construct Homo sapiens clone ccsbBroadEn_01666 TGFBR1 gene, encodes complete protein.
EF142853 - Homo sapiens isolate OT 15T mutant transforming growth factor beta receptor I (TGFBR1) mRNA, partial cds.
EF142854 - Homo sapiens isolate OT 41T mutant transforming growth factor beta receptor I (TGFBR1) mRNA, partial cds.
JC506674 - Sequence 42 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC506661 - Sequence 29 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC506688 - Sequence 56 from Patent EP2733220.
JC737800 - Sequence 56 from Patent WO2014075939.
JC506666 - Sequence 34 from Patent EP2733220.
JC737778 - Sequence 34 from Patent WO2014075939.
AK302234 - Homo sapiens cDNA FLJ58645 complete cds, highly similar to TGF-beta receptor type-1 precursor (EC 2.7.11.30).
AJ619020 - Homo sapiens partial mRNA for transforming growth factor beta receptor 1 (TBETAR 1 gene), short variant.
LZ100731 - JP 2017513922-A/2: PHARMACEUTICAL COMPOSITION AND METHOD FOR REDUCING SCAR FORMATION.
MS936931 - Sequence 2 from Patent EP3116512.
LZ100732 - JP 2017513922-A/3: PHARMACEUTICAL COMPOSITION AND METHOD FOR REDUCING SCAR FORMATION.
MS936932 - Sequence 3 from Patent EP3116512.
LZ100730 - JP 2017513922-A/1: PHARMACEUTICAL COMPOSITION AND METHOD FOR REDUCING SCAR FORMATION.
MS936930 - Sequence 1 from Patent EP3116512.
JD411630 - Sequence 392654 from Patent EP1572962.
JD117972 - Sequence 98996 from Patent EP1572962.
JD162291 - Sequence 143315 from Patent EP1572962.
JD562498 - Sequence 543522 from Patent EP1572962.
JD284766 - Sequence 265790 from Patent EP1572962.
JD258160 - Sequence 239184 from Patent EP1572962.
BX648917 - Homo sapiens mRNA; cDNA DKFZp686E0660 (from clone DKFZp686E0660).
JD566360 - Sequence 547384 from Patent EP1572962.
AK002171 - Homo sapiens cDNA FLJ11309 fis, clone PLACE1010076.
JD469084 - Sequence 450108 from Patent EP1572962.
JD490638 - Sequence 471662 from Patent EP1572962.
JD446579 - Sequence 427603 from Patent EP1572962.
JD375708 - Sequence 356732 from Patent EP1572962.
JD510119 - Sequence 491143 from Patent EP1572962.
JD245479 - Sequence 226503 from Patent EP1572962.
JD048739 - Sequence 29763 from Patent EP1572962.
JD438516 - Sequence 419540 from Patent EP1572962.
JD036401 - Sequence 17425 from Patent EP1572962.
AL117597 - Homo sapiens mRNA; cDNA DKFZp564G2463 (from clone DKFZp564G2463).
JD563768 - Sequence 544792 from Patent EP1572962.
AJ420419 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 994846.
JD236733 - Sequence 217757 from Patent EP1572962.
JD239222 - Sequence 220246 from Patent EP1572962.
JD413952 - Sequence 394976 from Patent EP1572962.
BC038347 - Homo sapiens, clone IMAGE:4750477, mRNA.
JD393532 - Sequence 374556 from Patent EP1572962.
JD351409 - Sequence 332433 from Patent EP1572962.
JD161809 - Sequence 142833 from Patent EP1572962.
JD467624 - Sequence 448648 from Patent EP1572962.
JD559855 - Sequence 540879 from Patent EP1572962.
JD521429 - Sequence 502453 from Patent EP1572962.
JD560149 - Sequence 541173 from Patent EP1572962.
JD564246 - Sequence 545270 from Patent EP1572962.
JD287798 - Sequence 268822 from Patent EP1572962.
BC056247 - Homo sapiens cDNA clone IMAGE:4073852, partial cds.
JD186696 - Sequence 167720 from Patent EP1572962.
AK129793 - Homo sapiens cDNA FLJ26282 fis, clone DMC06777.
JD085839 - Sequence 66863 from Patent EP1572962.
JD231703 - Sequence 212727 from Patent EP1572962.
JD492463 - Sequence 473487 from Patent EP1572962.
JD357250 - Sequence 338274 from Patent EP1572962.
JD052948 - Sequence 33972 from Patent EP1572962.
JD539446 - Sequence 520470 from Patent EP1572962.
JD349372 - Sequence 330396 from Patent EP1572962.
JD309773 - Sequence 290797 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_tob1Pathway - Role of Tob in T-cell activation
h_mapkPathway - MAPKinase Signaling Pathway
h_nthiPathway - NFkB activation by Nontypeable Hemophilus influenzae
h_ctcfPathway - CTCF: First Multivalent Nuclear Factor
h_tgfbPathway - TGF beta signaling pathway
h_alkPathway - ALK in cardiac myocytes
h_slrp2Pathway - Function of SLRP in Bone: An Integrated View
h_p38mapkPathway - p38 MAPK Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000374994.1, ENST00000374994.2, ENST00000374994.3, ENST00000374994.4, ENST00000374994.5, ENST00000374994.6, ENST00000374994.7, ENST00000374994.8, hCG_30154 , NR_176363, Q5T7S2, Q5T7S2_HUMAN, TGFBR1 , uc318lzd.1, uc318lzd.2
UCSC ID: ENST00000374994.9_10
RefSeq Accession: NM_004612.4
Protein: Q5T7S2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TGFBR1:
loeys-dietz (Loeys-Dietz Syndrome)
taa (Heritable Thoracic Aortic Disease Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.