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Aliases for TGFBR1 Gene

Aliases for TGFBR1 Gene

  • Transforming Growth Factor, Beta Receptor 1 2 3
  • ALK5 3 4 6
  • Transforming Growth Factor, Beta Receptor I (Activin A Receptor Type II-Like Kinase, 53kD) 2 3
  • Activin A Receptor Type II-Like Protein Kinase Of 53kD 3 4
  • Transforming Growth Factor-Beta Receptor Type I 3 4
  • Serine/Threonine-Protein Kinase Receptor R4 3 4
  • Activin Receptor-Like Kinase 5 3 4
  • EC 2.7.11.30 4 64
  • TbetaR-I 3 4
  • TGFR-1 3 4
  • ALK-5 3 4
  • AAT5 3 6
  • LDS1 3 6
  • MSSE 3 6
  • SKR4 3 4
  • Activin A Receptor Type II-Like Kinase, 53kDa 3
  • Multiple Self-Healing Squamous Epithelioma 2
  • Activin A Receptor Type II-Like Kinase 2
  • TGF-Beta Receptor Type-1 3
  • TGF-Beta Receptor Type I 4
  • TGF-Beta Type I Receptor 4
  • EC 2.7.11 64
  • ACVRLK4 3
  • 53kDa 2
  • LDS1A 3
  • LDS2A 3
  • ESS1 3

External Ids for TGFBR1 Gene

Previous Symbols for TGFBR1 Gene

  • MSSE
  • ESS1

Summaries for TGFBR1 Gene

Entrez Gene Summary for TGFBR1 Gene

  • 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]

GeneCards Summary for TGFBR1 Gene

TGFBR1 (Transforming Growth Factor, Beta Receptor 1) is a Protein Coding gene. Diseases associated with TGFBR1 include tgfbr1-related thoracic aortic aneurysms and aortic dissections and tgfbr1-related loeys-dietz syndrome. Among its related pathways are MAPK signaling pathway and Signaling by GPCR. GO annotations related to this gene include protein serine/threonine kinase activity and SMAD binding. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for TGFBR1 Gene

  • Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation.

Tocris Summary for TGFBR1 Gene

  • The transforming growth factor-beta family of polypeptides (TGF-beta1, TGF-beta2 and TGF-beta3) are involved in the regulation of cellular processes, including cell division, differentiation, motility, adhesion and death. TGF-beta signals by binding the TGF-beta type II receptor (TGF-betaRII) which transphosphorylates and activates the type I receptor (TGF-betaRI). Activated TGF-betaRI then phosphorylates a subset of SMAD proteins, Smad2 and Smad3, which translocate to the nucleus where they form transcription complexes with DNA binding factors and co-activators/co-repressors. TGF-beta functions as a tumor suppressor by inhibiting the cell cycle in the G1 phase. Administration of TGF-beta is able to protect against mammary tumor development in transgenic mouse models in vivo. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers, with the majority of colon and gastric cancers being caused by an inactivating mutation of TGF-betaRII. Homozygous deletions of TGF-betaRI and inactivating mutations of SMAD genes have also been found. A pro-oncogenic role for TGF-beta has also been proposed. Once cells lose their sensitivity to TGF-beta1-mediated growth inhibition, autocrine TGF-beta signaling can promote tumorigenesis. Elevated levels of TGF-beta1 are often observed in advanced carcinomas, and have been correlated with increased tumor invasiveness and disease progression.

Gene Wiki entry for TGFBR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFBR1 Gene

Genomics for TGFBR1 Gene

Genomic Location for TGFBR1 Gene

Start:
99,104,038 bp from pter
End:
99,154,192 bp from pter
Size:
50,155 bases
Orientation:
Plus strand

Genomic View for TGFBR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGFBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFBR1 Gene

Regulatory Elements for TGFBR1 Gene

Proteins for TGFBR1 Gene

  • Protein details for TGFBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36897-TGFR1_HUMAN
    Recommended name:
    TGF-beta receptor type-1
    Protein Accession:
    P36897
    Secondary Accessions:
    • Q6IR47
    • Q706C0
    • Q706C1

    Protein attributes for TGFBR1 Gene

    Size:
    503 amino acids
    Molecular mass:
    55960 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer; in the endoplasmic reticulum but also at the cell membrane. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composed of two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGBRB1 and TGFBR2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3. Interacts with CD109; inhibits TGF-beta receptor activation in keratinocytes. Interacts with RBPMS. Interacts (unphosphorylated) with FKBP1A; prevents TGFBR1 phosphorylation by TGFBR2 and stabilizes it in the inactive conformation. Interacts with SMAD2, SMAD3 and ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF-beta receptor. Interacts with TRAF6 and MAP3K7; induces MAP3K7 activation by TRAF6. Interacts with PARD6A; involved in TGF-beta induced epithelial to mesenchymal transition. Interacts with SMAD7, NEDD4L, SMURF1 and SMURF2; SMAD7 recruits NEDD4L, SMURF1 and SMURF2 to the TGF-beta receptor. Interacts with USP15 and VPS39.

    Three dimensional structures from OCA and Proteopedia for TGFBR1 Gene

    Alternative splice isoforms for TGFBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFBR1 Gene

Proteomics data for TGFBR1 Gene at MOPED

Post-translational modifications for TGFBR1 Gene

  • N-Glycosylated.
  • Phosphorylated at basal levels in the absence of ligand. Activated upon phosphorylation by TGFBR2, mainly in the GS domain. Phosphorylation in the GS domain abrogates FKBP1A-binding.
  • Ubiquitinated; undergoes ubiquitination catalyzed by several E3 ubiquitin ligases including SMURF1, SMURF2 and NEDD4L2. Results in the proteasomal and/or lysosomal degradation of the receptor thereby negatively regulating its activity. Deubiquitinated by USP15, leading to stabilization of the protein and enhanced TGF-beta signal.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn45

Domains for TGFBR1 Gene

UniProtKB/Swiss-Prot:

TGFR1_HUMAN
Domain:
  • Contains 1 GS domain.:
    • P36897
  • Contains 1 protein kinase domain.:
    • P36897
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • P36897
genes like me logo Genes that share domains with TGFBR1: view

Function for TGFBR1 Gene

Molecular function for TGFBR1 Gene

GENATLAS Biochemistry: transforming growth factor beta,receptor type I,regulating cell cycle progression,including two variants TGFBR1,6A and TGFBR1,10A,inactivated in pancreatic and biliary cancers,deleted in cutaneous T cell lymphoma
UniProtKB/Swiss-Prot CatalyticActivity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Kept in an inactive conformation by FKBP1A preventing receptor activation in absence of ligand. CD109 is another inhibitor of the receptor.
UniProtKB/Swiss-Prot Function: Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation.

Enzyme Numbers (IUBMB) for TGFBR1 Gene

Gene Ontology (GO) - Molecular Function for TGFBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004514 nicotinate-nucleotide diphosphorylase (carboxylating) activity --
GO:0004672 protein kinase activity IDA 19736306
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity --
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
genes like me logo Genes that share ontologies with TGFBR1: view
genes like me logo Genes that share phenotypes with TGFBR1: view

Animal Models for TGFBR1 Gene

MGI Knock Outs for TGFBR1:

No data available for Transcription Factor Targeting and HOMER Transcription for TGFBR1 Gene

Localization for TGFBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFBR1 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, tight junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGFBR1 Gene COMPARTMENTS Subcellular localization image for TGFBR1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 2
nucleus 2
chloroplast 1
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TGFBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell ISS --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IDA 15761148
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with TGFBR1: view

Pathways for TGFBR1 Gene

genes like me logo Genes that share pathways with TGFBR1: view

Pathways by source for TGFBR1 Gene

Gene Ontology (GO) - Biological Process for TGFBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity IDA 18625725
GO:0001501 skeletal system development ISS --
GO:0001525 angiogenesis IEA --
GO:0001701 in utero embryonic development ISS --
GO:0001822 kidney development ISS --
genes like me logo Genes that share ontologies with TGFBR1: view

Compounds for TGFBR1 Gene

(5) Tocris Compounds for TGFBR1 Gene

Compound Action Cas Number
LY 364947 Selective inhibitor of TGF-betaRI [396129-53-6]
RepSox Selective inhibitor of TGF-betaRI [446859-33-2]
SB 431542 Potent, selective inhibitor of TGF-betaRI, ALK4 and ALK7 [301836-41-9]
SB 525334 Selective inhibitor of TGF-betaRI [356559-20-1]
SD 208 Potent ATP-competitive TGF-betaRI inhibitor [627536-09-8]

(4) HMDB Compounds for TGFBR1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(26) Novoseek inferred chemical compound relationships for TGFBR1 Gene

Compound -log(P) Hits PubMed IDs
tgf beta1 78.7 20
threonine 65.3 12
serine 54.2 13
pyrazole 17 1
ribonucleic acid 12.2 2
genes like me logo Genes that share compounds with TGFBR1: view

Transcripts for TGFBR1 Gene

Unigene Clusters for TGFBR1 Gene

Transforming growth factor, beta receptor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - - - - -
SP2: - - - - - - - -
SP3: -
SP4: - - - - - - -
SP5: - - - - - -
SP6: -
SP7: - - - - -
SP8: - -
SP9: -

Relevant External Links for TGFBR1 Gene

GeneLoc Exon Structure for
TGFBR1
ECgene alternative splicing isoforms for
TGFBR1

Expression for TGFBR1 Gene

mRNA expression in normal human tissues for TGFBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TGFBR1 Gene

SOURCE GeneReport for Unigene cluster for TGFBR1 Gene Hs.494622

mRNA Expression by UniProt/SwissProt for TGFBR1 Gene

P36897-TGFR1_HUMAN
Tissue specificity: Found in all tissues examined, most abundant in placenta and least abundant in brain and heart
genes like me logo Genes that share expressions with TGFBR1: view

Orthologs for TGFBR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFBR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGFBR1 36
  • 99.87 (n)
  • 99.8 (a)
TGFBR1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGFBR1 36
  • 92.85 (n)
  • 96.39 (a)
TGFBR1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBR1 36
  • 94.14 (n)
  • 98.73 (a)
TGFBR1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfbr1 36
  • 90.45 (n)
  • 96.59 (a)
Tgfbr1 16
Tgfbr1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGFBR1 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFBR1 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfbr1 36
  • 90.09 (n)
  • 97.24 (a)
chicken
(Gallus gallus)
Aves CHALK5 37
  • 90 (a)
OneToOne
TGFBR1 36
  • 82.73 (n)
  • 94.24 (a)
lizard
(Anolis carolinensis)
Reptilia TGFBR1 37
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.996 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6441 36
tgfbr1 36
  • 77.97 (n)
  • 88.41 (a)
zebrafish
(Danio rerio)
Actinopterygii tgfbr1a 37
  • 78 (a)
OneToMany
tgfbr1b 36
  • 69.74 (n)
  • 85.22 (a)
tgfbr1b 37
  • 80 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008247 36
  • 62.17 (n)
  • 70.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta babo 36
  • 57.01 (n)
  • 59.87 (a)
babo 37
  • 45 (a)
OneToMany
sax 38
  • 46 (a)
tkv 38
  • 45 (a)
babo 38
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-6 38
  • 38 (a)
daf-1 38
  • 42 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7011 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 51 (a)
OneToMany
Species with no ortholog for TGFBR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TGFBR1 Gene

ENSEMBL:
Gene Tree for TGFBR1 (if available)
TreeFam:
Gene Tree for TGFBR1 (if available)

Paralogs for TGFBR1 Gene

Pseudogenes.org Pseudogenes for TGFBR1 Gene

genes like me logo Genes that share paralogs with TGFBR1: view

Variants for TGFBR1 Gene

Sequence variations from dbSNP and Humsavar for TGFBR1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs868 -- 99,149,374(+) GGTCA(A/G)TTGTT utr-variant-3-prime
rs994 -- 99,149,361(+) TTTTA(A/G)TTTGG utr-variant-3-prime
rs1590 -- 99,153,883(-) CCCCA(A/C)TGGAA utr-variant-3-prime, downstream-variant-500B
rs334348 -- 99,150,189(+) AAATT(A/G)TTAGC utr-variant-3-prime
rs334349 -- 99,152,105(+) AGACC(A/G)TTGCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TGFBR1 Gene

Variant ID Type Subtype PubMed ID
nsv893618 CNV Gain 21882294
nsv893619 CNV Gain 21882294
nsv831666 CNV Gain 17160897

Relevant External Links for TGFBR1 Gene

HapMap Linkage Disequilibrium report
TGFBR1
Human Gene Mutation Database (HGMD)
TGFBR1

Disorders for TGFBR1 Gene

(2) OMIM Diseases for TGFBR1 Gene (190181)

UniProtKB/Swiss-Prot

TGFR1_HUMAN
  • Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269 PubMed:15731757, ECO:0000269 PubMed:16596670, ECO:0000269 PubMed:16791849, ECO:0000269 PubMed:16928994, ECO:0000269 PubMed:19883511, ECO:0000269 PubMed:22113417}. Note=The disease is caused by mutations affecting the gene represented in this entry. TGFBR1 mutation Gln-487 has been reported to be associated with thoracic aortic aneurysms and dissection (TAAD) (PubMed:16791849). This phenotype, also known as thoracic aortic aneurysms type 5 (AAT5), is distinguised from LDS1 by having aneurysms restricted to thoracic aorta. It is unclear, however, if this condition is fulfilled in individuals bearing Gln-487 mutation, that is why they are considered as LDS1 by the OMIM resource. {ECO:0000269 PubMed:16791849}.
  • Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]: A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars. {ECO:0000269 PubMed:21358634}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(56) Novoseek inferred disease relationships for TGFBR1 Gene

Disease -log(P) Hits PubMed IDs
marfan syndrome 57.3 9
telangiectasia hereditary hemorrhagic 57.1 1
sclerosis systemic 43.5 3
tumors 36.4 17
renal fibrosis 35.1 1

Relevant External Links for TGFBR1

GeneTests
TGFBR1
GeneReviews
TGFBR1
Genetic Association Database (GAD)
TGFBR1
Human Genome Epidemiology (HuGE) Navigator
TGFBR1
genes like me logo Genes that share disorders with TGFBR1: view

Publications for TGFBR1 Gene

  1. Cloning and genomic organization of the human transforming growth factor-beta type I receptor gene. (PMID: 9417915) Vellucci V.F. … Reiss M. (Genomics 1997) 3 4 23
  2. Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation. (PMID: 11278251) Ebisawa T. … Miyazono K. (J. Biol. Chem. 2001) 3 4 23
  3. Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancer. (PMID: 11746979) Samowitz W.S. … Slattery M.L. (Genes Chromosomes Cancer 2001) 3 23 49
  4. Identification of 1,5-naphthyridine derivatives as a novel series of potent and selective TGF-beta type I receptor inhibitors. (PMID: 15317461) Gellibert F. … Hartley D. (J. Med. Chem. 2004) 3 4 23
  5. An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder. (PMID: 15382067) Chen T. … Carter J.H. (Int. J. Cancer 2004) 3 23 49

Products for TGFBR1 Gene

Sources for TGFBR1 Gene

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