TGFBR1 (transforming growth factor beta receptor 1)

2003-02-01  

Identity

HGNC
TGFBR1
LOCATION
9q22.33
LOCUSID
7046
ALIAS
AAT5,ACVRLK4,ALK-5,ALK5,ESS1,LDS1,LDS1A,LDS2A,MSSE,SKR4,TBR-i,TBRI,TGFR-1,tbetaR-I
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7046
MIM: 190181
HGNC: 11772
Ensembl: ENSG00000106799

Variants:

dbSNP: 7046
ClinVar: 7046
TCGA: ENSG00000106799
COSMIC: TGFBR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106799ENST00000374990P36897
ENSG00000106799ENST00000374994P36897
ENSG00000106799ENST00000374994Q5T7S2
ENSG00000106799ENST00000546584H0YHS4
ENSG00000106799ENST00000547314F8VVC4
ENSG00000106799ENST00000548365F8VRH6
ENSG00000106799ENST00000549021F8VXZ5
ENSG00000106799ENST00000549766F8W1R9
ENSG00000106799ENST00000550253B4DY26
ENSG00000106799ENST00000552516P36897
ENSG00000106799ENST00000552573F8W0K6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Cytokine-cytokine receptor interactionKEGGko04060
TGF-beta signaling pathwayKEGGko04350
Adherens junctionKEGGko04520
Colorectal cancerKEGGko05210
Pancreatic cancerKEGGko05212
Chronic myeloid leukemiaKEGGko05220
MAPK signaling pathwayKEGGhsa04010
Cytokine-cytokine receptor interactionKEGGhsa04060
TGF-beta signaling pathwayKEGGhsa04350
Adherens junctionKEGGhsa04520
Pathways in cancerKEGGhsa05200
Colorectal cancerKEGGhsa05210
Pancreatic cancerKEGGhsa05212
Chronic myeloid leukemiaKEGGhsa05220
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Hepatitis BKEGGhsa05161
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
FoxO signaling pathwayKEGGhsa04068
TGF-beta signalingKEGGhsa_M00680
TGF-beta signalingKEGGM00680
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by TGF-beta Receptor Complex in CancerREACTOMER-HSA-3304351
Loss of Function of SMAD2/3 in CancerREACTOMER-HSA-3304349
SMAD2/3 Phosphorylation Motif Mutants in CancerREACTOMER-HSA-3304356
SMAD2/3 MH2 Domain Mutants in CancerREACTOMER-HSA-3315487
Loss of Function of TGFBR2 in CancerREACTOMER-HSA-3642278
TGFBR2 Kinase Domain Mutants in CancerREACTOMER-HSA-3645790
Loss of Function of TGFBR1 in CancerREACTOMER-HSA-3656534
TGFBR1 LBD Mutants in CancerREACTOMER-HSA-3656535
TGFBR1 KD Mutants in CancerREACTOMER-HSA-3656532
Signal TransductionREACTOMER-HSA-162582
Signaling by TGF-beta Receptor ComplexREACTOMER-HSA-170834
TGF-beta receptor signaling activates SMADsREACTOMER-HSA-2173789
Downregulation of TGF-beta receptor signalingREACTOMER-HSA-2173788
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)REACTOMER-HSA-2173791
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
DeubiquitinationREACTOMER-HSA-5688426
UCH proteinasesREACTOMER-HSA-5689603
Ub-specific processing proteasesREACTOMER-HSA-5689880
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161907438Thoracic Aortic Aneurysms and Dissections (TAAD)DiseaseDataAnnotationassociated
PA166123310loeys-dietz syndromeDiseaseDataAnnotationassociated
PA24456ACTA2GeneDataAnnotationassociated
PA28016FBN1GeneDataAnnotationassociated
PA30526SMAD3GeneDataAnnotationassociated
PA31367MYH11GeneDataAnnotationassociated
PA31388MYLKGeneDataAnnotationassociated
PA36486TGFBR2GeneDataAnnotationassociated
PA444880Marfan SyndromeDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
383289442024TGFβR1 inhibition drives hepatocellular carcinoma proliferation through induction of toll-like-receptor signalling.1
385227622024Blockade of endothelial adenosine receptor 2 A suppresses atherosclerosis in vivo through inhibiting CREB-ALK5-mediated endothelial to mesenchymal transition.0
385820122024Gut microbiota regulates the ALK5/NOX1 axis by altering glutamine metabolism to inhibit ferroptosis of intrahepatic cholangiocarcinoma cells.0
387301072024Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma.0
383289442024TGFβR1 inhibition drives hepatocellular carcinoma proliferation through induction of toll-like-receptor signalling.1
385227622024Blockade of endothelial adenosine receptor 2 A suppresses atherosclerosis in vivo through inhibiting CREB-ALK5-mediated endothelial to mesenchymal transition.0
385820122024Gut microbiota regulates the ALK5/NOX1 axis by altering glutamine metabolism to inhibit ferroptosis of intrahepatic cholangiocarcinoma cells.0
387301072024Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma.0
356439622023Transforming growth factor beta isoforms and TGF-βR1 and TGF-βR2 expression in systemic sclerosis patients.6
365665672023Shear-mediated ALK5 expression regulates endothelial activation.0
365843392023Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.0
365999372023Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.1
367919122023Crosstalk between protein kinase C α and transforming growth factor β signaling mediated by Runx2 in intestinal epithelial cells.1
369945422023LncRNA LITATS1 suppresses TGF-β-induced EMT and cancer cell plasticity by potentiating TβRI degradation.14
373273152023Functional Genetic Variants in TGFβ1 and TGFβR1 in miRNA-Binding Sites Predict Outcomes in Patients with HPV-positive Oropharyngeal Squamous Cell Carcinoma.3

Citation

Dessen P

TGFBR1 (transforming growth factor beta receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42540/cancer-prone-explorer/gene-fusions-explorer/tumors-explorer/