Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Tgfbr1. (This text reflects annotations as of Wednesday, January 23, 2013.)

---

Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

---

Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Tgfbr1
  • participates in the following biological processes:
    • blastocyst development ^[12]
    • cellular response to transforming growth factor beta stimulus ^[2]
    • protein phosphorylation ^[17]
    • response to cholesterol ^[3]
    • transforming growth factor beta receptor signaling pathway ^{[8, 17]}
  • performs the following molecular functions:
    • SMAD binding ^[14]
    • transforming growth factor beta-activated receptor activity ^[17]
• The gene product of Tgfbr1 has been shown to bind to the gene products of Acvrl1, Tgfb1. ^{[8, 14]} Researchers have inferred, based on physical interactions, that the gene product of Tgfbr1
  • performs the following molecular functions:
    • transforming growth factor beta binding ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Tgfbr1
  • participates in the following biological processes:
    • angiogenesis ^[9]
    • artery morphogenesis ^[15]
    • collagen fibril organization ^[4]
    • embryo development ^{[6, 13]}
    • embryonic cranial skeleton morphogenesis ^[7]
    • endothelial cell migration ^[9]
    • germ cell migration ^[4]
    • heart development ^[15]
    • in utero embryonic development ^{[6, 9, 15]}
    • induction of apoptosis ^[7]
    • lens development in camera-type eye ^[5]
    • negative regulation of apoptotic process ^[15]
    • negative regulation of chondrocyte differentiation ^[2]
    • neuron fate commitment ^[11]
    • palate development ^[7]
    • parathyroid gland development ^[15]
    • pharyngeal system development ^[15]
    • positive regulation of filopodium assembly ^[7]
    • post-embryonic development ^[7]
    • regulation of apoptotic process ^[7]
    • regulation of gene expression ^[7]
    • regulation of protein binding ^[10]
    • thymus development ^[15]
    • transforming growth factor beta receptor signaling pathway ^{[9, 15, 16]}
• Researchers have inferred, based on genetic interactions, that the gene product of Tgfbr1
  • participates in the following biological processes:
    • anterior/posterior pattern specification based on interactions with Acvr2b ^[1]
    • kidney development based on interactions with Acvr2b ^[1]
    • negative regulation of endothelial cell proliferation based on interactions with Cav2 ^[16]
    • palate development based on interactions with Acvr2b ^[1]
    • skeletal system development based on interactions with Acvr2b ^[1]
    • skeletal system morphogenesis based on interactions with Acvr2b ^[1]
  • performs the following molecular functions:
    • transforming growth factor beta-activated receptor activity based on interactions with Tgfbr2 ^[3]

---

Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Tgfbr1:
  • participates in the following biological processes:
    • activation of MAPKK activity
    • cell motility
    • cellular response to transforming growth factor beta stimulus
    • epithelial to mesenchymal transition
    • negative regulation of apoptotic process
    • negative regulation of endothelial cell differentiation
    • pathway-restricted SMAD protein phosphorylation
    • peptidyl-serine phosphorylation
    • peptidyl-threonine phosphorylation
    • positive regulation of cell growth
    • positive regulation of cell proliferation
    • positive regulation of cellular component movement
    • positive regulation of pathway-restricted SMAD protein phosphorylation
    • positive regulation of protein kinase B signaling cascade
    • positive regulation of SMAD protein import into nucleus
    • positive regulation of transcription, DNA-dependent
    • protein autophosphorylation
    • protein phosphorylation
    • regulation of apoptotic process
    • regulation of protein ubiquitination
    • regulation of transcription, DNA-dependent
    • response to cholesterol
    • response to estrogen stimulus
    • signal transduction
    • transforming growth factor beta receptor signaling pathway
  • performs the following molecular functions:
    • ATP binding
    • I-SMAD binding
    • protein complex binding
    • protein heterodimerization activity
    • protein kinase activity
    • protein serine/threonine kinase activity
    • SMAD binding
    • transforming growth factor beta binding
    • transforming growth factor beta receptor activity, type I
    • transforming growth factor beta-activated receptor activity
    • transmembrane receptor protein serine/threonine kinase activity
    • type II transforming growth factor beta receptor binding
    • ubiquitin protein ligase binding
  • is located in the following cellular components:
    • apical plasma membrane
    • basolateral plasma membrane
    • caveola
    • membrane raft
    • plasma membrane part
    • protein complex
    • receptor complex
    • tight junction

---

Summary text based on GO annotations supported by structural data

• Tgfbr1 encodes a protein or proteins that contain the following InterPro domains: Protein kinase, ATP binding site, Protein kinase, catalytic domain, Protein kinase-like domain, Serine/threonine-protein kinase, active site, TGF beta receptor, GS motif, TGF-beta receptor/activin receptor, type I/II, indicating that the gene product:
  • performs the following molecular functions:
    • transferase activity, transferring phosphorus-containing groups
  • is located in the following cellular components:
    • membrane

---

Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Tgfbr1 indicates that it:
  • participates in the following biological processes:
    • apoptotic process
    • cell differentiation
    • phosphorylation
    • regulation of growth
  • performs the following molecular functions:
    • kinase activity
    • metal ion binding
    • nucleotide binding
    • transferase activity
  • is located in the following cellular components:
    • cell junction
    • integral to membrane
    • membrane
    • plasma membrane

---

References

1. Andersson O et al. (2006) Growth differentiation factor 11 signals through the transforming growth factor-beta receptor ALK5 to regionalize the anterior-posterior axis. EMBO Rep, 7:831-7. (PubMed:16845371)
2. Blaney Davidson EN et al. (2009) Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice. J Immunol, 182:7937-45. (PubMed:19494318)
3. Chen CL et al. (2007) Cholesterol suppresses cellular TGF-beta responsiveness: implications in atherogenesis. J Cell Sci, 120:3509-21. (PubMed:17878231)
4. Chuva de Sousa Lopes SM et al. (2005) Altered primordial germ cell migration in the absence of transforming growth factor beta signaling via ALK5. Dev Biol, 284:194-203. (PubMed:15993878)
5. de Iongh RU et al. (2001) Requirement for TGFbeta receptor signaling during terminal lens fiber differentiation. Development, 128:3995-4010. (PubMed:11641223)
6. Dudas M et al. (2004) Tgf-beta3-induced palatal fusion is mediated by Alk-5/Smad pathway. Dev Biol, 266:96-108. (PubMed:14729481)
7. Dudas M et al. (2006) Epithelial and ectomesenchymal role of the type I TGF-beta receptor ALK5 during facial morphogenesis and palatal fusion. Dev Biol, 296:298-314. (PubMed:16806156)
8. Goumans MJ et al. (2003) Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling. Mol Cell, 12:817-28. (PubMed:14580334)
9. Larsson J et al. (2001) Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice. EMBO J, 20:1663-73. (PubMed:11285230)
10. Liu W et al. (2006) Axin is a scaffold protein in TGF-beta signaling that promotes degradation of Smad7 by Arkadia. EMBO J, 25:1646-58. (PubMed:16601693)
11. Okano J et al. (2005) Transforming growth factor beta2 promotes the formation of the mouse cochleovestibular ganglion in organ culture. Int J Dev Biol, 49:23-31. (PubMed:15744664)
12. Roelen BA et al. (1998) Identification of two distinct functions for TGF-beta in early mouse development. Differentiation, 64:19-31. (PubMed:9921650)
13. Seki T et al. (2006) Nonoverlapping expression patterns of ALK1 and ALK5 reveal distinct roles of each receptor in vascular development. Lab Invest, 86:116-29. (PubMed:16344855)
14. Stenvers KL et al. (2003) Heart and liver defects and reduced transforming growth factor beta2 sensitivity in transforming growth factor beta type III receptor-deficient embryos. Mol Cell Biol, 23:4371-85. (PubMed:12773577)
15. Wang J et al. (2006) Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects. BMC Dev Biol, 6:51. (PubMed:17078885)
16. Xie L et al. (2011) Caveolin-2 is a negative regulator of anti-proliferative function and signaling of transforming growth factor-beta in endothelial cells. Am J Physiol Cell Physiol, 301:C1161-74. (PubMed:21832243)
17. Yamashita M et al. (2005) Ubiquitin Ligase Smurf1 Controls Osteoblast Activity and Bone Homeostasis by Targeting MEKK2 for Degradation. Cell, 121:101-13. (PubMed:15820682)

---

---

Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

---