Homo sapiens Gene: TGFBR1
Summary
InnateDB Gene IDBG-78488.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TGFBR1
Gene Name transforming growth factor, beta receptor 1
Synonyms AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1
Species Homo sapiens
Ensembl Gene ENSG00000106799
Encoded Proteins
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:99104038-99154192
Strand Forward strand
Band q22.33
Transcripts
ENST00000374994 ENSP00000364133
ENST00000374990 ENSP00000364129
ENST00000547314 ENSP00000449934
ENST00000552573 ENSP00000447182
ENST00000549766 ENSP00000446685
ENST00000552516 ENSP00000447297
ENST00000549021 ENSP00000449028
ENST00000548365 ENSP00000448518
ENST00000550253 ENSP00000450052
ENST00000546584 ENSP00000447707
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 369 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 369 [view]
Protein-Protein 366 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 1 [view]
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004514 nicotinate-nucleotide diphosphorylase (carboxylating) activity
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0004702 receptor signaling protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005114 type II transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0019838 growth factor binding
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0050431 transforming growth factor beta binding
GO:0070411 I-SMAD binding
Biological Process
GO:0000186 activation of MAPKK activity
GO:0001501 skeletal system development
GO:0001525 angiogenesis
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0001824 blastocyst development
GO:0001837 epithelial to mesenchymal transition
GO:0001937 negative regulation of endothelial cell proliferation
GO:0002088 lens development in camera-type eye
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0007050 cell cycle arrest
GO:0007165 signal transduction
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007507 heart development
GO:0008284 positive regulation of cell proliferation
GO:0008354 germ cell migration
GO:0009435 NAD biosynthetic process
GO:0009791 post-embryonic development
GO:0009952 anterior/posterior pattern specification
GO:0010468 regulation of gene expression
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0018105 peptidyl-serine phosphorylation
GO:0018107 peptidyl-threonine phosphorylation
GO:0023014 signal transduction by phosphorylation
GO:0030199 collagen fibril organization
GO:0030307 positive regulation of cell growth
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0031396 regulation of protein ubiquitination
GO:0032331 negative regulation of chondrocyte differentiation
GO:0042060 wound healing
GO:0043062 extracellular structure organization
GO:0043066 negative regulation of apoptotic process
GO:0043393 regulation of protein binding
GO:0043542 endothelial cell migration
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048538 thymus development
GO:0048663 neuron fate commitment
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048762 mesenchymal cell differentiation
GO:0048844 artery morphogenesis
GO:0048870 cell motility
GO:0051272 positive regulation of cellular component movement
GO:0051491 positive regulation of filopodium assembly
GO:0051897 positive regulation of protein kinase B signaling
GO:0060017 parathyroid gland development
GO:0060021 palate development
GO:0060037 pharyngeal system development
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060391 positive regulation of SMAD protein import into nucleus
GO:0070723 response to cholesterol
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:2001235 positive regulation of apoptotic signaling pathway
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway
Cellular Component
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0005923 tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex
GO:0070022 transforming growth factor beta receptor homodimeric complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
Downregulation of TGF-beta receptor signaling pathway
TGF-beta receptor signaling activates SMADs pathway
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
TGFBR1 KD Mutants in Cancer pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
KEGG
Colorectal cancer pathway
TGF-beta signaling pathway pathway
MAPK signaling pathway pathway
Adherens junction pathway
Cytokine-cytokine receptor interaction pathway
Chronic myeloid leukemia pathway
Pancreatic cancer pathway
Endocytosis pathway
Pathways in cancer pathway
Chagas disease (American trypanosomiasis) pathway
Osteoclast differentiation pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID NCI
Glypican 1 network
ALK1 signaling events
TGF-beta receptor signaling
Beta5 beta6 beta7 and beta8 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL F8VRH6 F8W0K6 F8W1R9
UniProt Splice Variant
Entrez Gene 7046
UniGene Hs.494622 Hs.623256 Hs.625128
RefSeq NM_001130916 NM_004612 XM_005252150
HUGO HGNC:11772
OMIM 190181
CCDS CCDS47998 CCDS6738
HPRD 01822
IMGT
EMBL AL162427
GenPept
RNA Seq Atlas 7046