TGFBR1 (transforming growth factor beta receptor 1)

2003-02-01  

Identity

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

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

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

PharmGKB

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

References

Pubmed IDYearTitleCitations
157317572005A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.376
169289942006Aneurysm syndromes caused by mutations in the TGF-beta receptor.318
187584502008The type I TGF-beta receptor engages TRAF6 to activate TAK1 in a receptor kinase-independent manner.223
223442982012USP15 stabilizes TGF-β receptor I and promotes oncogenesis through the activation of TGF-β signaling in glioblastoma.117
199368992010Foxp3+ regulatory T cells, Th17 effector cells, and cytokine environment in inflammatory bowel disease.109
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
227061602012USP4 is regulated by AKT phosphorylation and directly deubiquitylates TGF-β type I receptor.98
172381352007Reduced chondrogenic potential of adipose tissue derived stromal cells correlates with an altered TGFbeta receptor and BMP profile and is overcome by BMP-6.97
182431112008Cooperative assembly of TGF-beta superfamily signaling complexes is mediated by two disparate mechanisms and distinct modes of receptor binding.95
147185192004GADD34-PP1c recruited by Smad7 dephosphorylates TGFbeta type I receptor.88

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/tgfbr1