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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]
TGFBR1 (Transforming Growth Factor Beta Receptor 1) is a Protein Coding gene. Diseases associated with TGFBR1 include Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz Syndrome 1. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Cell adhesion_Plasmin signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ACVR1B.
The transforming growth factor-beta family of polypeptides (TGF-beta1-3) are involved in the regulation of cellular processes, including division, differentiation, motility, adhesion and death. TGF-beta signals by binding the type II receptor (TGF-betaRII) which activates the type I receptor (TGF-betaRI).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA,IDA | 19736306 |
GO:0004674 | protein serine/threonine kinase activity | IEA,IDA | 12065756 |
GO:0004675 | transmembrane receptor protein serine/threonine kinase activity | IEA | -- |
GO:0005024 | contributes_to transforming growth factor beta-activated receptor activity | IEA,IMP | 1333888 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | ISS | -- |
GO:0005634 | nucleus | IDA | 26583432 |
GO:0005768 | endosome | IEA,IDA | 26583432 |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005923 | bicellular tight junction | IEA,IDA | 15761148 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
|
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | SMAD2/3 MH2 Domain Mutants in Cancer | ||
3 | Endometrial cancer | ||
4 | Apoptosis Pathway |
.39
|
|
5 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000186 | activation of MAPKK activity | IDA | 18625725 |
GO:0001501 | skeletal system development | IEA,ISS | -- |
GO:0001525 | angiogenesis | IEA | -- |
GO:0001701 | in utero embryonic development | IEA,ISS | -- |
GO:0001822 | kidney development | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Pirfenidone | Approved, Investigational | Pharma | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 86 | ||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Manganese | Approved | Nutra | 56 | |||
2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
SIS3 |
|
521984-48-5 |
|
|
Compound | Action | Cas Number |
---|---|---|
A 83-01 | Selective inhibitor of TGF-betaRI, ALK4 and ALK7 | 909910-43-6 |
RepSox | Potent and selective inhibitor of TGF-betaRI | 446859-33-2 |
SB 431542 | Potent, selective inhibitor of TGF-betaRI, ALK4 and ALK7 | 301836-41-9 |
SB 505124 | Selective inhibitor of TGF-betaRI, ALK4 and ALK7 | 694433-59-5 |
SIS3 | Selective Smad3 inhibitor; inhibits TGF-betaR1 signaling | 521984-48-5 |
Compound | Action | Cas Number |
---|---|---|
A 77-01 | Potent ALK5 inhibitor | 607737-87-1 |
A 83-01 | ALK-5 inhibitor | 909910-43-6 |
GW788388 | ALK5 inhibitor,potent and selective | 452342-67-5 |
K02288 | ALK inhibitor | 1431985-92-0 |
LDN-212854 | BMP receptor inhibitor,potent and selective | 1432597-26-6 |
LY2109761 | TβRI/II kinase inhibitor | 700874-71-1 |
LY2157299 | TGF-βR1 inhibitor,potent and selective | 700874-72-2 |
LY364947 | 396129-53-6 | |
ML347 | BMP receptor inhibitor,potent and selective | 1062368-49-3 |
Pirfenidone | TGF-β production inhibitor | 53179-13-8 |
RepSox | ALK5 inhibitor,potent and selective | 446859-33-2 |
SB 431542 | ALK inhibitor | 301836-41-9 |
SB505124 | ALK4/ALK5/ALK7 inhibitor | 694433-59-5 |
SB-505124 hydrochloride | ALK5/ALK4/ALK7 inhibitor in TGF-β/activin signalling,selective | 356559-13-2 |
SB525334 | (TGF-beta1) receptor inhibitor | 356559-20-1 |
SD-208 | TGF-βR I kinase inhibitor | 627536-09-8 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGFBR1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TGFBR1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TGFBR1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TGFBR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tgfbr1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgfbr1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TGFBR1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHALK5 31 |
|
OneToOne | |
TGFBR1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | TGFBR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgfbr1 30 |
|
||
Str.6441 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.996 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgfbr1a 31 |
|
OneToMany | |
tgfbr1b 30 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008247 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | babo 30 31 32 |
|
OneToMany | |
sax 32 |
|
|
|||
tkv 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | daf-1 32 |
|
|
|
sma-6 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7011 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
477560 | Uncertain Significance: Familial thoracic aortic aneurysm and aortic dissection | 99,138,035(+) | ACTGTAATGTTACGTC | SPLICE_DONOR_VARIANT | |
636440 | Uncertain Significance: not provided | 99,129,099(+) | T/A | SYNONYMOUS_VARIANT | |
636544 | Uncertain Significance: not provided | 99,138,002(+) | C/T | MISSENSE_VARIANT | |
636853 | Uncertain Significance: not provided | 99,142,584(+) | A/G | MISSENSE_VARIANT | |
636866 | Uncertain Significance: not provided | 99,142,574(+) | TATC/T | INFRAME_DELETION |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3621214 | CNV | gain | 21293372 |
nsv1076195 | CNV | deletion | 25765185 |
nsv1144284 | CNV | deletion | 24896259 |
nsv831666 | CNV | gain | 17160897 |
nsv950918 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple self-healing squamous epithelioma |
|
|
loeys-dietz syndrome 1 |
|
|
loeys-dietz syndrome |
|
|
familial keratoacanthoma |
|
|
familial thoracic aortic aneurysm and aortic dissection |
|