Gene table of TGFBR1 : transforming growth factor beta receptor 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TGFBR1	OMIM link	Number of associated genes	genes
132800	MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TGFBR1
PS609192	LOEYS-DIETZ SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	TGFB3, SMAD3, TGFBR2, TGFBR1, TGFB2
PS607086	AORTIC ANEURYSM, FAMILIAL THORACIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	TGFBR2, ACTA2, TGFBR1, MYH11, MYLK, PRKG1, MFAP5

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Annotation of the gene TGFBR1

Associated genes in ENSEMBL

ENSG00000106799

Associated proteins - SwissProt Accession ID

P36897

Associated PDB IDs

Cytogenetic Band

9q22.33

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
TGF-beta signaling pathway	hsa04350	6.41
Chronic myeloid leukemia	hsa05220	6.48
Pancreatic cancer	hsa05212	6.56
Colorectal cancer	hsa05210	6.52
MAPK signaling pathway	hsa04010	4.63
Pathways in cancer	hsa05200	3.98
Chagas disease (American trypanosomiasis)	hsa05142	5.99
Adherens junction	hsa04520	6.26
Hippo signaling pathway	hsa04390	5.37
Endocytosis	hsa04144	4.92
FoxO signaling pathway	hsa04068	5.63
Osteoclast differentiation	hsa04380	5.64
HTLV-I infection	hsa05166	4.59
Hepatitis B	hsa05161	5.52
Cytokine-cytokine receptor interaction	hsa04060	4.67

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signal Transduction	R-HSA-162582	1.78
Diseases of signal transduction	R-HSA-5663202	4.89
SMAD2/3 Phosphorylation Motif Mutants in Cancer	R-HSA-3304356	10.4
Signaling by TGF-beta Receptor Complex in Cancer	R-HSA-3304351	9.98
TGFBR2 Kinase Domain Mutants in Cancer	R-HSA-3645790	10.98
Loss of Function of TGFBR2 in Cancer	R-HSA-3642278	10.98
Signaling by TGF-beta Receptor Complex	R-HSA-170834	6.81
Loss of Function of SMAD2/3 in Cancer	R-HSA-3304349	10.18
TGFBR1 KD Mutants in Cancer	R-HSA-3656532	10.18
TGFBR1 LBD Mutants in Cancer	R-HSA-3656535	10.98
Loss of Function of TGFBR1 in Cancer	R-HSA-3656534	10.18
TGF-beta receptor signaling activates SMADs	R-HSA-2173789	7.98
Downregulation of TGF-beta receptor signaling	R-HSA-2173788	8.28
SMAD2/3 MH2 Domain Mutants in Cancer	R-HSA-3315487	10.18
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	R-HSA-2173791	8.98
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytokine receptor binding	GO:0005126	4.14
signaling receptor activity	GO:0038023	2.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
transforming growth factor beta receptor binding	GO:0005160	5.81
cytokine binding	GO:0019955	5.21
ribonucleoside binding	GO:0032549	2.22
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
transforming growth factor beta binding	GO:0050431	6.97
cation binding	GO:0043169	1.4
receptor signaling protein activity	GO:0005057	4.76
growth factor binding	GO:0019838	4.89
ion binding	GO:0043167	1.36
transmembrane receptor protein serine/threonine kinase activity	GO:0004675	6.91
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
nucleoside binding	GO:0001882	2.21
purine nucleoside binding	GO:0001883	2.22
I-SMAD binding	GO:0070411	7.34
purine nucleotide binding	GO:0017076	2.19
protein kinase activity	GO:0004672	3.27
type II transforming growth factor beta receptor binding	GO:0005114	7.79
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
SMAD binding	GO:0046332	5.45
catalytic activity	GO:0003824	1.05
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
small molecule binding	GO:0036094	1.89
metal ion binding	GO:0046872	1.41
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
transforming growth factor beta receptor activity, type I	GO:0005025	8.35
transforming growth factor beta-activated receptor activity	GO:0005024	7.44
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
transmembrane receptor activity	GO:0099600	2.53
protein binding	GO:0005515	0.46
receptor signaling protein serine/threonine kinase activity	GO:0004702	5.23
purine ribonucleotide binding	GO:0032555	2.2
receptor binding	GO:0005102	2.43
transmembrane receptor protein kinase activity	GO:0019199	5.32
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32