Version 5.4
Mus musculus Gene: Tgfbr1
Summary
InnateDB Gene IDBG-146050.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Tgfbr1
Gene Name transforming growth factor, beta receptor I
Synonyms Alk-5; ALK5; AU017191; TbetaR-I; TbetaRI
Species Mus musculus
Ensembl Gene ENSMUSG00000007613
Encoded Proteins
IDBP-146052
transforming growth factor, beta receptor I
IDBP-146054
transforming growth factor, beta receptor I
IDBP-266057
transforming growth factor, beta receptor I
IDBP-536505
transforming growth factor, beta receptor I
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000106799:
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 4:47353222-47414931
Strand Forward strand
Band B1
Transcripts
ENSMUST00000007757 ENSMUSP00000007757
ENSMUST00000044234 ENSMUSP00000048501
ENSMUST00000107725 ENSMUSP00000103353
ENSMUST00000123962
ENSMUST00000126171 ENSMUSP00000123761
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 69 interaction(s) predicted by orthology.
Experimentally validated
Total 37 [view]
Protein-Protein 36 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 69 [view]
Gene Ontology

Molecular Function
Accession GO Term
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:0007165 signal transduction
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: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:0031396 regulation of protein ubiquitination
GO:0032331 negative regulation of chondrocyte differentiation
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: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:0005901 caveola
GO:0005923 tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex
GO:0045121 membrane raft
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000106799
View Gene Order
ENSBTAG00000018035
Not yet available
Pathways
NETPATH
REACTOME
REACT_217958
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
REACT_215733
Downregulation of TGF-beta receptor signaling pathway
REACT_189085
Disease pathway
REACT_215068
Loss of Function of SMAD4 in Cancer pathway
REACT_213336
Signaling by TGF-beta Receptor Complex in Cancer pathway
REACT_224217
TGFBR1 LBD Mutants in Cancer pathway
REACT_203510
TGF-beta receptor signaling activates SMADs pathway
REACT_204241
Loss of Function of TGFBR2 in Cancer pathway
REACT_196549
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) pathway
REACT_216792
SMAD2/3 MH2 Domain Mutants in Cancer pathway
REACT_224787
TGFBR2 Kinase Domain Mutants in Cancer pathway
REACT_223317
Loss of Function of TGFBR1 in Cancer pathway
REACT_209370
TGFBR2 MSI Frameshift Mutants in Cancer pathway
REACT_202264
SMAD4 MH2 Domain Mutants in Cancer pathway
REACT_188257
Signal Transduction pathway
REACT_224802
TGFBR1 KD Mutants in Cancer pathway
REACT_225428
Signaling by TGF-beta Receptor Complex pathway
REACT_226256
Loss of Function of SMAD2/3 in Cancer pathway
KEGG
mmu04060
Cytokine-cytokine receptor interaction pathway
mmu04350
TGF-beta signaling pathway pathway
mmu05210
Colorectal cancer pathway
mmu04010
MAPK signaling pathway pathway
mmu04520
Adherens junction pathway
mmu05220
Chronic myeloid leukemia pathway
mmu05212
Pancreatic cancer pathway
mmu04144
Endocytosis pathway
mmu05200
Pathways in cancer pathway
mmu04380
Osteoclast differentiation pathway
mmu05142
Chagas disease (American trypanosomiasis) pathway
INOH
INOH website
IL-7 signaling pathway
INOH website
JAK STAT pathway and regulation pathway
INOH website
EPO signaling pathway pathway
INOH website
VEGF signaling pathway pathway
INOH website
BMP2 signaling pathway
INOH website
TGF-beta signaling pathway
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_7
TGF_beta_Receptor pathway
REACTOME
REACT_120727
Downregulation of TGF-beta receptor signaling pathway
REACT_120850
TGF-beta receptor signaling activates SMADs pathway
REACT_120726
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) pathway
REACT_169107
SMAD4 MH2 Domain Mutants in Cancer pathway
REACT_169219
Loss of Function of SMAD4 in Cancer pathway
REACT_169398
Loss of Function of SMAD2/3 in Cancer pathway
REACT_169122
Signaling by TGF-beta Receptor Complex in Cancer pathway
REACT_169192
TGFBR2 MSI Frameshift Mutants in Cancer pathway
REACT_111102
Signal Transduction pathway
REACT_169165
SMAD2/3 MH2 Domain Mutants in Cancer pathway
REACT_169435
Loss of Function of TGFBR2 in Cancer pathway
REACT_169103
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
REACT_169263
TGFBR1 KD Mutants in Cancer pathway
REACT_169311
Loss of Function of TGFBR1 in Cancer pathway
REACT_169445
TGFBR1 LBD Mutants in Cancer pathway
REACT_169440
TGFBR2 Kinase Domain Mutants in Cancer pathway
REACT_116125
Disease pathway
REACT_6844
Signaling by TGF-beta Receptor Complex pathway
REACT_221739
Loss of Function of TGFBR1 in Cancer pathway
REACT_217678
Signaling by TGF-beta Receptor Complex pathway
REACT_220609
SMAD2/3 MH2 Domain Mutants in Cancer pathway
REACT_207152
Loss of Function of SMAD4 in Cancer pathway
REACT_209241
Loss of Function of TGFBR2 in Cancer pathway
REACT_211897
TGFBR2 Kinase Domain Mutants in Cancer pathway
REACT_214353
Signal Transduction pathway
REACT_220430
TGF-beta receptor signaling activates SMADs pathway
REACT_211138
Signaling by TGF-beta Receptor Complex in Cancer pathway
REACT_217890
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) pathway
REACT_225632
Downregulation of TGF-beta receptor signaling pathway
REACT_207908
SMAD4 MH2 Domain Mutants in Cancer pathway
REACT_207832
TGFBR2 MSI Frameshift Mutants in Cancer pathway
REACT_216195
Loss of Function of SMAD2/3 in Cancer pathway
REACT_220643
TGFBR1 LBD Mutants in Cancer pathway
REACT_207087
Disease pathway
REACT_209664
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
REACT_223905
TGFBR1 KD Mutants in Cancer pathway
KEGG
hsa05210
Colorectal cancer pathway
hsa04350
TGF-beta signaling pathway pathway
hsa04010
MAPK signaling pathway pathway
hsa04520
Adherens junction pathway
hsa04060
Cytokine-cytokine receptor interaction pathway
hsa05220
Chronic myeloid leukemia pathway
hsa05212
Pancreatic cancer pathway
hsa04144
Endocytosis pathway
hsa05200
Pathways in cancer pathway
hsa05142
Chagas disease (American trypanosomiasis) pathway
hsa04380
Osteoclast differentiation pathway
INOH
INOH website
IL-7 signaling pathway
INOH website
JAK STAT pathway and regulation pathway
INOH website
EPO signaling pathway pathway
INOH website
VEGF signaling pathway pathway
INOH website
TGF-beta signaling pathway
INOH website
BMP2 signaling pathway
PID NCI
glypican_1pathway
Glypican 1 network
alk1pathway
ALK1 signaling events
tgfbrpathway
TGF-beta receptor signaling
integrin5_pathway
Beta5 beta6 beta7 and beta8 integrin cell surface interactions
Cross-References
SwissProt Q64729
TrEMBL E9Q418 Q3U485 Q4FJL1 Q9CVP4 Q9D5H8
UniProt Splice Variant
Entrez Gene 21812
UniGene Mm.197552 Mm.400705 Mm.408299 Mm.414760 Mm.452145
RefSeq NM_009370 XM_006537756 XM_006537757
OMIM
CCDS CCDS18160
HPRD
IMGT
MGI ID MGI:98728
MGI Symbol Tgfbr1
EMBL AK007125 AK015337 AK154381 AL772150 AL772232 BC063260 CH466565 CT010393 D25540 D28526
GenPept AAH63260 BAA05023 BAA05878 BAB24865 BAB29802 BAE32548 CAJ18600 CAM13897 CAM24923 EDL02353
RNA Seq Atlas 21812

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca