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TGFBR1 Gene

protein-coding   GIFtS: 76
GCID: GC09P101867

Transforming Growth Factor, Beta Receptor 1

(Previous names: transforming growth factor, beta receptor I (activin A receptor...)
(Previous symbols: MSSE, ESS1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transforming Growth Factor, Beta Receptor 11 2     EC 2.7.11.303 8
MSSE1 2 5     AAT52 5
ALK52 3 5     53kDa1
ESS11 2     Activin A Receptor Type II-Like Kinase1
Multiple Self-Healing Squamous Epithelioma1 2     ACVRLK42
Transforming Growth Factor, Beta Receptor I (Activin A Receptor Type
II-Like Kinase, 53kD)1 2
     LDS1A2
Activin A Receptor Type II-Like Protein Kinase Of 53kD2 3     LDS2A2
Activin Receptor-Like Kinase 52 3     Activin A Receptor Type II-Like Kinase, 53kD2
Serine/Threonine-Protein Kinase Receptor R42 3     Activin A Receptor Type II-Like Kinase, 53kDa2
Transforming Growth Factor-Beta Receptor Type I2 3     tbetaR-I2
ALK-52 3     TGF-Beta Receptor Type-12
SKR42 3     Transforming Growth Factor Beta Receptor I2
TGFR-12 3     TbetaR-I3
TGF-Beta Receptor Type I2 3     LDS15
TGF-Beta Type I Receptor2 3     EC 2.7.118

External Ids:    HGNC: 117721   Entrez Gene: 70462   Ensembl: ENSG000001067997   OMIM: 1901815   UniProtKB: P368973   

Export aliases for TGFBR1 gene to outside databases

Previous GC identifers: GC09P092667 GC09P093610 GC09P095324 GC09P097247 GC09P098946 GC09P100907 GC09P071464


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 loeys-dietz syndrome type 2a, and loeys-dietz syndrome type 1a. GO annotations related to this gene include protein serine/threonine kinase activity and SMAD binding. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
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

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 (TGF beta receptor 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGFBR1 gene promoter:
         USF1   Pbx1a   AP-1   ATF-2   USF2   USF-1:USF-2   HNF-3beta   USF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTGFBR1 promoter sequence
   Search Chromatin IP Primers for TGFBR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGFBR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22

TGFBR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFBR1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P101867:  view genomic region     (about GC identifiers)

Start:
101,866,320 bp from pter      End:
101,916,474 bp from pter
Size:
50,155 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897 (See protein sequence)
Recommended Name: TGF-beta receptor type-1 precursor  
Size: 503 amino acids; 55960 Da
Cofactor: Magnesium or manganese (By similarity)
Subunit: 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
Selected PDB 3D structures from and Proteopedia for TGFBR1 (see all 17):
1B6C (3D)        1IAS (3D)        1PY5 (3D)        1RW8 (3D)        1TBI (3D)        1VJY (3D)    
Secondary accessions: Q6IR47 Q706C0 Q706C1
Alternative splicing: 3 isoforms:  P36897-1   P36897-2   P36897-3   

Explore the universe of human proteins at neXtProt for TGFBR1: NX_P36897

Explore proteomics data for TGFBR1 at MOPED

Post-translational modifications: 

  • 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-binding1
  • N-Glycosylated1
  • 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 signal1
  • Glycosylation2 at Asn45
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TGFBR1 (P36897) (see all 23)
     YMAPEVL  IADLGLA  RPNIPNRW  SGSGSGLP 


    See TGFBR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001124388.1  NP_004603.1  

    ENSEMBL proteins: 
     ENSP00000449934   ENSP00000447182   ENSP00000364133   ENSP00000364129   ENSP00000446685  
     ENSP00000447297   ENSP00000449028   ENSP00000448518   ENSP00000450052   ENSP00000447707  
    Reactome Protein details: P36897

    TGFBR1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant TGFBR1 Protein
    R&D Systems Recombinant & Natural Proteins for TGFBR1 (TGF-beta RI/ALK-5)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for TGFBR1
    OriGene Protein Over-expression Lysate for TGFBR1
    OriGene MassSpec for TGFBR1
    OriGene Custom Protein Services for TGFBR1
    GenScript Custom Purified and Recombinant Proteins Services for TGFBR1
    Novus Biologicals TGFBR1 Proteins
    Novus Biologicals TGFBR1 Lysate
    Sino Biological Recombinant Protein for TGFBR1
    Sino Biological Cell Lysate for TGFBR1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    TGFBR1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TGFBR1
    R&D Systems Antibodies for TGFBR1 (TGF-beta RI/ALK-5)
    Cell Signaling Technology (CST) Antibodies for TGFBR1 
    OriGene Antibodies for TGFBR1
    OriGene Custom Antibody Services for TGFBR1
    Novus Biologicals TGFBR1 Antibodies
    Abcam antibodies for TGFBR1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for TGFBR1
    LSBio Antibodies in human, mouse, rat for TGFBR1

    TGFBR1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TGFBR1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TGFBR1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: transforming growth factor, beta receptor 1
    Type I receptor serine/threonine kinases
    Type I subfamily

    Selected InterPro protein domains (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR003605 TGF_beta_rcpt_GS
     IPR000472 Activin_rcpt

    Graphical View of Domain Structure for InterPro Entry P36897

    ProtoNet protein and cluster: P36897

    1 Blocks protein domain: IPB000472 Domain in TGF-beta receptor/activin receptor

    UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 GS domain
    Similarity: Contains 1 protein kinase domain


    TGFBR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TGFR1_HUMAN, P36897
    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
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
    Enzyme regulation: Kept in an inactive conformation by FKBP1A preventing receptor activation in absence of ligand.
    CD109 is another inhibitor of the receptor

         Genatlas biochemistry entry for TGFBR1:
    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

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004514nicotinate-nucleotide diphosphorylase (carboxylating) activity ----
    GO:0004672protein kinase activity IDA19736306
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity ----
    GO:0004713protein tyrosine kinase activity ----
         
    TGFBR1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for TGFBR1:
     Decreased Wnt reporter activit  Decreased substrate adherent c  G0/1 arrest  Increased G1 DNA content 
     Increased colony dispersion (i 

         15 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Tgfbr1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  normal  respiratory system  skeleton  tumorigenesis 

    TGFBR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TGFBR1: Tgfbr1tm1Bopa Tgfbr1tm1Karl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGFBR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGFBR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGFBR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGFBR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGFBR1:
    hsa-mir-142-3p (MIRT021634), hsa-mir-101-3p (MIRT027382), hsa-let-7c-5p (MIRT000687), hsa-mir-128-3p (MIRT004650), hsa-mir-98-5p (MIRT027865), hsa-mir-140-5p (MIRT007379), hsa-let-7d-5p (MIRT032178), hsa-mir-204-5p (MIRT003271)

    Block miRNA regulation of human, mouse, rat TGFBR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGFBR1 (see all 114):
    hsa-miR-140-5p hsa-miR-3152-3p hsa-miR-4254 hsa-miR-361-5p hsa-miR-642a hsa-miR-300 hsa-miR-376b hsa-miR-1258
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TGFBR1
    Predesigned siRNA for gene silencing in human, mouse, rat TGFBR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TGFBR1

    Clone
    Products:
         
    OriGene clones in human, mouse for TGFBR1 (see all 12)
    OriGene ORF clones in mouse, rat for TGFBR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TGFBR1 (NM_001130916)
    Sino Biological Human cDNA Clone for TGFBR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBR1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TGFBR1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TGFBR1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TGFR1_HUMAN, P36897: Cell membrane; Single-pass type I membrane protein. Cell junction, tight junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    extracellular2
    nucleus2
    chloroplast1
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005923tight junction IDA15761148
    GO:0016020membrane ----
    GO:0043235receptor complex IDA8774881
    GO:0070022transforming growth factor beta receptor homodimeric complex IC1326540

    TGFBR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TGFBR1 About   (see all 59)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    Cytokine-cytokine receptor interaction0.43
    3Loss of Function of SMAD2/3 in Cancer
    Loss of Function of SMAD2/3 in Cancer0.60
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    Signaling by TGF-beta Receptor Complex in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    4Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    PPAR Pathway0.66
    Cellular Apoptosis Pathway0.85
    Rac1 Pathway0.65
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    5PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 R&D Systems Pathways for TGFBR1
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation
    TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TGFBR1 (see all 42)
        Nuclear Receptor Activation by Vitamin-A
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C

    2 Cell Signaling Technology (CST) Pathways for TGFBR1
        Angiogenesis
    TGF-beta/Smad Signaling

    4 Tocris Bioscience Pathways for TGFBR1
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    Selected GeneGo (Thomson Reuters) Pathways for TGFBR1 (see all 9)
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Cytokine production by Th17 cells in CF (Mouse model)
    Cell adhesion Plasmin signaling
    Transcription PPAR Pathway

    Selected BioSystems Pathways for TGFBR1 (see all 9)
        MAPK signaling pathway
    TGF Beta Signaling Pathway
    p38 MAPK Signaling Pathway
    Integrated Breast Cancer Pathway
    TGF-beta Receptor Signaling Pathway

    1 Sino Biological Pathway for TGFBR1
        TGF-beta Signaling Pathway

    Selected Reactome Pathways for TGFBR1 (see all 8)
        TGF-beta receptor signaling activates SMADs
    TGFBR2 Kinase Domain Mutants in Cancer
    SMAD2/3 MH2 Domain Mutants in Cancer
    TGFBR1 LBD Mutants in Cancer
    TGFBR1 KD Mutants in Cancer


    Selected Kegg Pathways  (Kegg details for TGFBR1) (see all 15):
        MAPK signaling pathway
    Cytokine-cytokine receptor interaction
    FoxO signaling pathway
    Endocytosis
    TGF-beta signaling pathway


    TGFBR1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFBR1: 
              Osteogenesis in human mouse rat
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGFBR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TGFBR1 (P368971, 2, 3 ENSP000003641334) via UniProtKB, MINT, STRING, and/or I2D (see all 389)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371732, 3, ENSP000003519054MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 I2D: score=6 STRING: ENSP00000351905
    TGFB3P106002, 3, ENSP000002386824MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 I2D: score=3 STRING: ENSP00000238682
    SMAD2Q157962, 3, ENSP000002621604MINT-6799216 I2D: score=5 STRING: ENSP00000262160
    RNF5Q999423, ENSP000003642354I2D: score=3 STRING: ENSP00000364235
    ENSG00000183574Q999423I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 56):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000186activation of MAPKK activity IDA18625725
    GO:0001501skeletal system development ISS--
    GO:0001525angiogenesis IEA--
    GO:0001701in utero embryonic development ISS--
    GO:0001822kidney development ISS--

    TGFBR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for TGFBR1
      Browse compounds at ApexBio 

    Compounds for TGFBR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LY 364947Selective inhibitor of TGF-betaRI[396129-53-6]
    SB 525334Selective inhibitor of TGF-betaRI[356559-20-1]
    RepSoxSelective inhibitor of TGF-betaRI[446859-33-2]
    SB 431542 Potent, selective inhibitor of TGF-betaRI, ALK4 and ALK7 [301836-41-9]
    SD 208Potent ATP-competitive TGF-betaRI inhibitor[627536-09-8]

    4 HMDB Compounds for TGFBR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    6 DrugBank Compounds for TGFBR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine-- --target--10592235
    3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]Pyrazole-- --target--10592235
    4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)Quinoline-- --target--10592235
    N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amine-- --target--10592235
    N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamide-- --target--10592235
    Naphthyridine Inhibitor-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for TGFBR1 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 78.7 22 16762882 (4), 17071858 (2), 20169621 (1), 10208456 (1) (see all 16)
    threonine 65.3 13 10997691 (1), 8044838 (1), 8576253 (1), 12606401 (1) (see all 12)
    serine 54.2 15 10997691 (1), 17673906 (1), 8044838 (1), 8576253 (1) (see all 13)
    pyrazole 17 2 15317461 (1)
    ribonucleic acid 12.2 2 8636304 (1), 10819793 (1)
    matrigel 11.4 2 16407850 (1), 9139855 (1)
    vegf 8.68 9 19506300 (5), 15797633 (4)
    rapamycin 7.01 8 12417722 (1), 16362038 (1)
    ly294002 4.78 1 14610066 (1)
    nitric oxide 4.16 1 12027535 (1)



    TGFBR1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TGFBR1 gene (2 alternative transcripts): 
    NM_001130916.1  NM_004612.2  

    Unigene Cluster for TGFBR1:

    Transforming growth factor, beta receptor 1
    Hs.494622  [show with all ESTs]
    Unigene Representative Sequence: AJ619019
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547314 ENST00000552573 ENST00000374994(uc004azc.3 uc004azd.3 uc004aze.3 uc011lvc.2)
    ENST00000374990 ENST00000549766 ENST00000552516 ENST00000549021 ENST00000548365
    ENST00000550253 ENST00000546584

    miRNA
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    Block miRNA regulation of human, mouse, rat TGFBR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGFBR1 (see all 114):
    hsa-miR-140-5p hsa-miR-3152-3p hsa-miR-4254 hsa-miR-361-5p hsa-miR-642a hsa-miR-300 hsa-miR-376b hsa-miR-1258
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat TGFBR1
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    OriGene clones in human, mouse for TGFBR1 (see all 12)
    OriGene ORF clones in mouse, rat for TGFBR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TGFBR1 (NM_001130916)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBR1
    Primer
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    OriGene qPCR primer pairs and template standards for TGFBR1
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFBR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGFBR1
      QuantiTect SYBR Green Assays in human, mouse, rat TGFBR1
      QuantiFast Probe-based Assays in human, mouse, rat TGFBR1

    Additional mRNA sequence: 

    AJ420419.1 AJ619019.2 AJ619020.1 AK002171.1 AK129793.1 AK302059.1 AK302234.1 AL117597.1 
    BC038347.1 BC056247.1 BC071181.1 BX648917.1 L11695.1 

    14 DOTS entries:

    DT.99954952  DT.91865585  DT.444189  DT.86853546  DT.121169149  DT.100790430  DT.121169150  DT.435429 
    DT.101977267  DT.121169110  DT.95256903  DT.75182985  DT.92463787  DT.95275649 

    Selected AceView cDNA sequences (see all 228):

    AU140082 AI680880 BG539642 CB123053 BC056247 BC038347 AA652779 CB143622 
    AW263721 AU156571 NM_004612 AW026638 AI925770 AL528160 L11695 AI269743 
    AI888162 AI400980 AA570014 AA678544 AI627324 AI017162 AI096476 BM472996 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR1 (see all 9)    About this scheme

    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:              -     -     -     -     -     -                                                                                             


    ECgene alternative splicing isoforms for TGFBR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TGFBR1 expression in normal human tissues (normalized intensities)      TGFBR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TGFBR1 Expression
    About this image


    TGFBR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Endothelium (Cardiovascular System)
             Vascular Smooth Muscle Cells Veins
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Vascular Smooth Muscle Cells Splanchnic Mesoderm
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Hypertrophic Chondrocytes Rib
    TGFBR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGFBR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494622

    UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
    Tissue specificity: Found in all tissues examined, most abundant in placenta and least abundant in brain and heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFBR1: 
              Osteogenesis in human mouse rat
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Angiogenesis in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TGFBR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TGFBR1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgfbr11 , 5 transforming growth factor, beta receptor I1, 5 90.45(n)1
    96.59(a)1
      4 (26.02 cM)5
    218121  NM_009370.21  NP_033396.11 
     473532225 
    chicken
    (Gallus gallus)
    Aves TGFBR11 transforming growth factor, beta receptor I (activin more 82.73(n)
    94.24(a)
      374094  NM_204246.1  NP_989577.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGFBR16
    transforming growth factor, beta receptor 1
    85(a)
    1 ↔ 1
    6(55820487-55853282)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9962 Xenopus laevis type I serine/threonine kinase receptor more 73.99(n)    U21860.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tgfbr1b1 transforming growth factor, beta receptor 1 b 69.74(n)
    85.22(a)
      792928  NM_001115059.1  NP_001108531.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta babo1 , 3 TGFbeta ligand binding to type I
    receptor protein more3
    baboon1
    58(a)
    (best of 3)3
    57.01(n)1
    59.87(a)1
      44F123
    359001  NM_057651.31  NP_476999.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TGFBR1 gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  ACVR1B2  BMPR1A2  ACVR12  
    ACVRL12  BMPR22  BMPR1B2  
    10 SIMAP similar genes for TGFBR1 using alignment to 11 protein entries:     TGFR1_HUMAN (see all proteins):
    ACVR1B    ACVR1C    ACVRL1    BMPR1B    BMPR1A    ACVR1
    ACVR2A    ACVR2B    TGFBR2    BMPR2

    TGFBR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TGFBR1
    PGOHUM00000261258


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TGFBR1 (see all 1435)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0658294
    Multiple self-healing squamous epithelioma (MSSE)4--see VAR_0658292 P L mis40--------
    VAR_0667224
    Loeys-Dietz syndrome 1A (LDS1A)4--see VAR_0667222 T I mis40--------
    VAR_0667204
    Loeys-Dietz syndrome 1A (LDS1A)4--see VAR_0667202 D Y mis40--------
    VAR_0223444
    Loeys-Dietz syndrome 1A (LDS1A)4--see VAR_0223442 T I mis40--------
    VAR_0667214
    Loeys-Dietz syndrome 1A (LDS1A)4--see VAR_0667212 D G mis40--------
    VAR_0223474
    Loeys-Dietz syndrome 2A (LDS2A)4--see VAR_0223472 R P mis40--------
    VAR_0294844
    Loeys-Dietz syndrome 2A (LDS2A)4--see VAR_0294842 R Q mis40--------
    VAR_0294814
    Loeys-Dietz syndrome 2A (LDS2A)4--see VAR_0294812 K E mis40--------
    VAR_0658284
    Multiple self-healing squamous epithelioma (MSSE)4--see VAR_0658282 G R mis40--------
    VAR_0223454
    Loeys-Dietz syndrome 1A (LDS1A)4--see VAR_0223452 M R mis40--------

    HapMap Linkage Disequilibrium report for TGFBR1 (101866320 - 101916474 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TGFBR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893619CNV Gain21882294
    nsv831666CNV Gain17160897
    nsv893618CNV Gain21882294

    Human Gene Mutation Database (HGMD): TGFBR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGFBR1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFBR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 190181   
    OMIM disorders: 609192  132800  
    UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
  • Loeys-Dietz syndrome 1A (LDS1A) [MIM:609192]: An aortic aneurysm syndrome with widespread systemic
    involvement. The disorder is characterized by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism,
    and bifid uvula or cleft palate. Other findings include exotropy, micrognathia and retrognathia, structural brain
    abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm
    with dissection throughout the arterial tree. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Loeys-Dietz syndrome 2A (LDS2A) [MIM:608967]: An aortic aneurysm syndrome with widespread systemic
    involvement. Physical findings include diffuse arterial aneurysms and dissections, 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. Loeys-Dietz syndrome type 2 is
    characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present
    in some patients. 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
    LDS2A 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 LDS2A by the OMIM resource
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for TGFBR1 (see all 119):    About MalaCards
    loeys-dietz syndrome type 2a    loeys-dietz syndrome type 1a    multiple self-healing squamous epithelioma, susceptiblity to    tgfbr1-related thoracic aortic aneurysms and aortic dissections
    multiple self healing squamous epithelioma    tgfbr1-related loeys-dietz syndrome    loeys-dietz syndrome    thoracic aortic aneurysm
    aortic aneurysm    eisenmenger syndrome    aortic aneurysm, familial thoracic 4    thoracic aortic aneurysms and aortic dissections
    familial thoracic aortic aneurysm and dissection    kabuki syndrome    marfan syndrome    arteriovenous malformation
    camurati-engelmann disease    diabetic foot ulcers    gastric cardia adenocarcinoma    hereditary hemorrhagic telangiectasia

    5 diseases from the University of Copenhagen DISEASES database for TGFBR1:
    Loeys-Dietz syndrome     Hereditary hemorrhagic telangiectasia     Cleft palate     Aortic aneurysm
    Camurati-Engelmann disease

    TGFBR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for TGFBR1 gene (see all 56)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    marfan syndrome 57.3 12 16799921 (2), 18377530 (1), 16596670 (1), 16835936 (1) (see all 8)
    telangiectasia hereditary hemorrhagic 57.1 1 12384983 (1)
    sclerosis systemic 43.5 4 15593186 (1), 16575856 (1), 16947635 (1)
    tumors 36.4 21 7622234 (2), 10932976 (2), 8636304 (1), 8760600 (1) (see all 15)
    renal fibrosis 35.1 1 17274978 (1)
    breast cancer 33.9 15 16428477 (2), 10416594 (2), 14760070 (1), 11221885 (1) (see all 11)
    telangiectasia 31.4 1 15385967 (1)
    cancer 25.9 18 8760600 (2), 10416594 (2), 19509225 (2), 11746979 (1) (see all 11)
    hnscc 25.1 2 20111589 (1), 16478646 (1)
    keloid 21.2 1 11496185 (1)

    GeneTests: TGFBR1
    GeneReviews: TGFBR1
    Genetic Association Database (GAD): TGFBR1
    Human Genome Epidemiology (HuGE) Navigator: TGFBR1 (76 documents)

    Export disorders for TGFBR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TGFBR1 gene, integrated from 10 sources (see all 686):
    (articles sorted by number of sources associating them with TGFBR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multiple self-healing squamous epithelioma is caused by a disease- specific spectrum of mutations in TGFBR1. (PubMed id 21358634)1, 2, 3 Goudie D.R.... Lane E.B. (Nat. Genet. 2011)
    2. TGFBR1(*)6A is not associated with prostate cancer in men of European ancestry. (PubMed id 15505640)1, 2, 4 Suarez B.K.... Catalona W.J. (Prostate Cancer Prostatic Dis. 2005)
    3. No major association between TGFBR1*6A and prostate cancer. (PubMed id 15385056)1, 2, 4 Kaklamani V.G.... Pasche B. (BMC Genet. 2004)
    4. TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies. (PubMed id 12947057)1, 2, 4 Kaklamani V.G.... Pasche B. (J. Clin. Oncol. 2003)
    5. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. (PubMed id 19542084)1, 4, 9 Tran-Fadulu V....Milewicz D.M. (J. Med. Genet. 2009)
    6. TGFBR1 haplotypes and risk of non-small-cell lung cancer. (PubMed id 19690145)1, 4, 9 Lei Z....Zhang H.T. (Cancer Res. 2009)
    7. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (PubMed id 16791849)1, 2, 9 Matyas G.... Steinmann B. (Hum. Mutat. 2006)
    8. An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder. (PubMed id 15382067)1, 4, 9 Chen T....Carter J.H. (Int. J. Cancer 2004)
    9. Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation. (PubMed id 18721526)1, 4, 9 Arrington C.B....Bowles N.E. (Am. J. Cardiol. 2008)
    10. Identification of 1,5-naphthyridine derivatives as a novel series of potent and selective TGF-beta type I receptor inhibitors. (PubMed id 15317461)1, 2, 9 Gellibert F....Hartley D. (J. Med. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7046 HGNC: 11772 AceView: TGFBR1 Ensembl:ENSG00000106799 euGenes: HUgn7046
    ECgene: TGFBR1 Kegg: 7046 H-InvDB: TGFBR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TGFBR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFBR1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TGFBR1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgfbr1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TGFBR1 gene:
    Search GeneIP for patents involving TGFBR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of TGFBR1
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     OriGene Antibodies for TGFBR1   OriGene RNAi products in human, mouse, rat for TGFBR1  
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     OriGene Custom Antibody Services for TGFBR1   OriGene Custom Protein Services for TGFBR1  

     
     
     Block miRNA regulation of human, mouse, rat TGFBR1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TGFBR1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGFBR1 Predesigned siRNA for gene silencing in human, mouse, rat TGFBR1
     QuantiFast Probe-based Assays in human, mouse, rat TGFBR1 QuantiTect SYBR Green Assays in human, mouse, rat TGFBR1
     PCR Arrays including human, mouse, rat TGFBR1 Search Chromatin IP Primers for TGFBR1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGFBR1  GeneGlobe Interaction Network for TGFBR1
     Regulatory tfbs in TGFBR1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TGFBR1 GenScript cDNA clones with any tag delivered in your preferred vector for TGFBR1
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     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
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     Antibodies & Assays for TGFBR1 

     Tocris compounds for TGFBR1
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
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     See all of Abcam's Antibodies, Kits and Proteins for TGFBR1
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     Browse Proteins at Cloud-Clone Corp.
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     Browse ELISAs at Cloud-Clone Corp.
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     Browse ESI BIO Cell Lines and PureStem Progenitors for TGFBR1
     Gene Synthesis
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TGFBR1
     SwitchGear Promoter luciferase reporter plasmids for TGFBR1
     ThermoFisher Antibody for TGFBR1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBR1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGFBR1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGFBR1
     LSBio Antibodies in human, mouse, rat for TGFBR1
    Customized transgenic rodents for:
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